WorldWideScience

Sample records for sclerosis multiplexi seoste

  1. Liina Vahter aitab sclerosis multiplex'i põdejaid / Sergo Selder

    Index Scriptorium Estoniae

    Selder, Sergo

    2010-01-01

    Lääne-Tallinna keskhaigla närvihaiguste keskus on Eesti kõige suurem sclerosis multiplex'i kompleksse ravi keskus. Keskuse neuropsühholoogist Liina Vahterist, kes kaitses Tallinna Ülikoolis doktorikraadi, mille materjaliks kujunes SM keskuse töö ja patsiendid. Ta peab ka kliinilise psühholoogia loenguid Tallinna Ülikooli psühholoogia instituudis

  2. Tuberous sclerosis

    Science.gov (United States)

    ... However, tuberous sclerosis often appears as a new DNA mutation. These cases are not preventable. Alternative Names Bourneville disease Images Tuberous sclerosis, angiofibromas - face Tuberous sclerosis, hypopigmented ...

  3. Tuberous Sclerosis

    Science.gov (United States)

    ... StartEar InfectionBreastfeeding: How to Pump and Store Your Breast MilkAnemiaIrritable Bowel Syndrome (IBS) Home Diseases and Conditions Tuberous Sclerosis Condition Tuberous Sclerosis Share Print Table of ...

  4. Tuberous Sclerosis

    Science.gov (United States)

    Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. ... Kidney problems Some people have signs of tuberous sclerosis at birth. In others it can take time ...

  5. Multiple Sclerosis

    Science.gov (United States)

    Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the myelin ... healthy cells in your body by mistake. Multiple sclerosis affects women more than men. It often begins ...

  6. Tuberous Sclerosis Syndrome

    Science.gov (United States)

    ... of Cancer > Tuberous Sclerosis Complex Request Permissions Tuberous Sclerosis Complex Approved by the Cancer.Net Editorial Board , 11/2016 What is tuberous sclerosis complex? Tuberous sclerosis complex (TSC) is a hereditary ...

  7. ALS (Amyotrophic Lateral Sclerosis)

    Science.gov (United States)

    ... Disorders » Patient & Caregiver Education » Fact Sheets Amyotrophic Lateral Sclerosis (ALS) Fact Sheet What is amyotrophic lateral sclerosis? ... I get more information? What is amyotrophic lateral sclerosis? Amyotrophic lateral sclerosis (ALS) is a group of ...

  8. Multiple Sclerosis

    Science.gov (United States)

    ... SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition An unpredictable disease of the central nervous system, multiple sclerosis (MS) can range from relatively benign to somewhat disabling to devastating, as communication between the brain and other parts of the ...

  9. Tuberous Sclerosis

    Science.gov (United States)

    ... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Tuberous Sclerosis Information ...

  10. Multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, Egon; Stenager, E N; Knudsen, Lone

    1994-01-01

    In a cross-sectional study of 117 randomly selected patients (52 men, 65 women) with definite multiple sclerosis, it was found that 76 percent were married or cohabitant, 8 percent divorced. Social contacts remained unchanged for 70 percent, but outgoing social contacts were reduced for 45 percent......, need for structural changes in home and need for pension became greater with increasing physical handicap. No significant differences between gender were found. It is concluded that patients and relatives are under increased social strain, when multiple sclerosis progresses to a moderate handicap...

  11. Genetics Home Reference: multiple sclerosis

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Multiple sclerosis Multiple sclerosis Printable PDF Open All Close All Enable Javascript ... Profile National Multiple Sclerosis Society: What is Multiple Sclerosis? Orphanet: Multiple sclerosis Patient Support and Advocacy Resources (5 links) ...

  12. Multiple sclerosis

    OpenAIRE

    Nicholas, Richard; Rashid, Waqar

    2012-01-01

    Multiple sclerosis is characterised by central nervous system lesions causing neurological dysfunction and other problems, such as fatigue, pain, depression, and anxiety. Early disease is usually relapsing and remitting, but most people develop secondary-progressive disease over time. No treatment has been shown to affect long-term outcome.Irreversible disability can occur, but life expectancy is generally not affected.

  13. Multiple Sclerosis.

    Science.gov (United States)

    Plummer, Nancy; Michael, Nancy, Ed.

    This module on multiple sclerosis is intended for use in inservice or continuing education programs for persons who administer medications in long-term care facilities. Instructor information, including teaching suggestions, and a listing of recommended audiovisual materials and their sources appear first. The module goal and objectives are then…

  14. Multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, E; Jensen, K

    1988-01-01

    Forty-two (12%) of a total of 366 patients with multiple sclerosis (MS) had psychiatric admissions. Of these, 34 (81%) had their first psychiatric admission in conjunction with or after the onset of MS. Classification by psychiatric diagnosis showed that there was a significant positive correlation...

  15. Multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, E; Knudsen, L; Jensen, K

    1994-01-01

    In a cross-sectional study of 94 patients (42 males, 52 females) with definite multiple sclerosis (MS) in the age range 25-55 years, the correlation of neuropsychological tests with the ability to read TV-subtitles and with the use of sedatives is examined. A logistic regression analysis reveals...

  16. Multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, E; Knudsen, L; Jensen, K

    1991-01-01

    In a cross-sectional investigation of 116 patients with multiple sclerosis, the social and sparetime activities of the patient were assessed by both patient and his/her family. The assessments were correlated to physical disability which showed that particularly those who were moderately disabled...

  17. Multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, E; Jensen, K

    1990-01-01

    An investigation on the correlation between ability to read TV subtitles and the duration of visual evoked potential (VEP) latency in 14 patients with definite multiple sclerosis (MS), indicated that VEP latency in patients unable to read the TV subtitles was significantly delayed in comparison...

  18. Multiple sclerosis

    OpenAIRE

    Nylander, Alyssa; Hafler, David A.

    2012-01-01

    Multiple sclerosis (MS) is a multifocal demyelinating disease with progressive neurodegeneration caused by an autoimmune response to self-antigens in a genetically susceptible individual. While the formation and persistence of meningeal lymphoid follicles suggest persistence of antigens to drive the continuing inflammatory and humoral response, the identity of an antigen or infectious agent leading to the oligoclonal expansion of B and T cells is unknown. In this review we examine new paradig...

  19. Multiple Sclerosis

    OpenAIRE

    Gaby, Alan

    2013-01-01

    Multiple sclerosis (MS) is a chronic progressive demyelinating disease of the central nervous system. Common manifestations include paresthesias, diplopia, loss of vision, numbness or weakness of the limbs, bowel or bladder dysfunction, spasticity, ataxia, fatigue, and mental changes. Four main patterns of MS are recognized: relapsing remitting, primary progressive, secondary progressive, and progressive relapsing. The cause of MS is unknown, although it appears to be an autoimmune disease. M...

  20. Systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Ahathya R

    2007-01-01

    Full Text Available Systemic sclerosis (scleroderma is a rare generalized disorder of connective tissue origin. This condition is predominantly a clinical diagnosis, based on the clinical signs and symptoms. Here is a case report of 26-year-old female patient with the classical features of this disease. This case is reported for its rarity and variable expressivity. This article also reviews the literature of this uncommon condition.

  1. Primary Lateral Sclerosis

    Science.gov (United States)

    ... When symptoms begin, PLS may be mistaken for amyotrophic lateral sclerosis (ALS) or spastic paraplegia. Most neurologists follow an ... When symptoms begin, PLS may be mistaken for amyotrophic lateral sclerosis (ALS) or spastic paraplegia. Most neurologists follow an ...

  2. National Multiple Sclerosis Society

    Science.gov (United States)

    ... Have you met? d Our Healthcare Voice National Multiple Sclerosis Society International Progressive MS Alliance live from Paris ... Persist for Years October 25, 2017 View All Multiple Sclerosis News & Press View All Clinical Trial Alerts Every ...

  3. Multiple sclerosis - discharge

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/patientinstructions/000129.htm Multiple sclerosis - discharge To use the sharing features on this ... doctor has told you that you have multiple sclerosis (MS). This disease affects the brain and spinal ...

  4. Depression and Multiple Sclerosis

    Science.gov (United States)

    ... navigation Skip to content Menu Navigation National Multiple Sclerosis Society Sign In In Your Area Donate Donate ... MS What Causes MS? Who Gets MS? Multiple Sclerosis FAQs Types of MS Related Conditions Symptoms & Diagnosis ...

  5. Fatigue and Multiple Sclerosis

    Science.gov (United States)

    ... navigation Skip to content Menu Navigation National Multiple Sclerosis Society Sign In In Your Area Donate Donate ... MS What Causes MS? Who Gets MS? Multiple Sclerosis FAQs Types of MS Related Conditions Symptoms & Diagnosis ...

  6. Tuberous sclerosis Anaesthetic considerations

    African Journals Online (AJOL)

    QuickSilver

    Tuberous sclerosis. Anaesthetic considerations. Tuberous sclerosis. Tuberous sclerosis(TS) was first described by Bourneville in. 1880.1 TS is said to be one of the commonest autosomal domi- nant diseases. Epidemiological studies report an incidence rang- ing between1:10000 to 1:170000.2,3 Two gene loci have been ...

  7. Multiple Sclerosis: Hope through Research

    Science.gov (United States)

    ... Disorders » Patient & Caregiver Education » Hope Through Research Multiple Sclerosis: Hope Through Research Download publication Introduction What is ... prevent MS from developing. top What is Multiple Sclerosis? Multiple sclerosis (MS) is a neuroinflammatory disease that ...

  8. Suicide and multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, E N; Stenager, Egon; Koch-Henriksen, N

    1992-01-01

    In a nationwide investigation the risk of death by suicide for patients with multiple sclerosis (MS) was assessed using records kept at the Danish Multiple Sclerosis Registry (DMSR) and the Danish National Register of Cause of Death. The investigation covers all MS patients registered with DSMR w...

  9. Suicide and multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, E N; Stenager, Egon; Koch-Henriksen, Nils

    1992-01-01

    In a nationwide investigation the risk of death by suicide for patients with multiple sclerosis (MS) was assessed using records kept at the Danish Multiple Sclerosis Registry (DMSR) and the Danish National Register of Cause of Death. The investigation covers all MS patients registered with DSMR...

  10. Tuberous sclerosis complex coexistent with hippocampal sclerosis.

    Science.gov (United States)

    Lang, Min; Prayson, Richard A

    2016-02-01

    Tuberous sclerosis and hippocampal sclerosis are both well-defined entities associated with medically intractable epilepsy. To our knowledge, there has been only one prior case of these two pathologies being co-existent. We report a 7-month-old boy who presented with intractable seizures at 2 months of age. MRI studies showed diffuse volume loss in the brain with bilateral, multiple cortical tubers and subcortical migration abnormalities. Subependymal nodules were noted without subependymal giant cell astrocytoma. Genetic testing revealed TSC2 and PRD gene deletions. Histopathology of the hippocampus showed CA1 sclerosis marked by loss of neurons in the CA1 region. Sections from the temporal, parietal and occipital lobes showed multiple cortical tubers characterized by cortical architectural disorganization, gliosis, calcifications and increased number of large balloon cells. Focal white matter balloon cells and spongiform changes were also present. The patient underwent resection of the right fronto-parietal lobe and a subsequent resection of the right temporal, parietal and occipital lobes. The patient is free of seizures on anti-epileptic medication 69 months after surgery. Although hippocampal sclerosis is well documented to be associated with coexistent focal cortical dysplasia, the specific co-existence of cortical tubers and hippocampal sclerosis appears to be rare. Copyright © 2015 Elsevier Ltd. All rights reserved.

  11. Amyotrophic Lateral Sclerosis (ALS)

    Science.gov (United States)

    ... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Amyotrophic Lateral Sclerosis ( ...

  12. Rehabilitation and multiple sclerosis

    DEFF Research Database (Denmark)

    Dalgas, Ulrik

    2011-01-01

    In a chronic and disabling disease like multiple sclerosis, rehabilitation becomes of major importance in the preservation of physical, psychological and social functioning. Approximately 80% of patients have multiple sclerosis for more than 35 years and most will develop disability at some point...... of their lives, emphasising the importance of rehabilitation in order to maintain quality of life. An important aspect of multiple sclerosis rehabilitation is the preservation of physical functioning. Hot topics in the rehabilitation of physical function include (1) exercise therapy, (2) robot-assisted training...... and (3) pharmacological interventions. Exercise therapy has for many years been a controversial issue in multiple sclerosis rehabilitation and the advice generally given to patients was not to participate in physical exercise, since it was thought to lead to a worsening of symptoms or fatigue. However...

  13. Multiple Sclerosis and Vitamin D

    Science.gov (United States)

    ... Editors David C. Spencer, MD Steven Karceski, MD Multiple sclerosis and vitamin D Andrew J. Solomon, MD WHAT ... caused by improper immune responses (autoimmune diseases), including multiple sclerosis (MS). A recent Patient Page in Neurology provided ...

  14. Marijuana (Cannabis) and Multiple Sclerosis

    Science.gov (United States)

    ... navigation Skip to content Menu Navigation National Multiple Sclerosis Society Sign In In Your Area Donate Donate ... MS What Causes MS? Who Gets MS? Multiple Sclerosis FAQs Types of MS Related Conditions Symptoms & Diagnosis ...

  15. African Americans and Multiple Sclerosis

    Science.gov (United States)

    ... Council: nationalMSsociety.org/African- AmericansandMS African Americans & Multiple Sclerosis GENER AL INFORMATION MS STOPS PEOPLE FROM MOVING. ... Judy, diagnosed in 1982 What is MS? Multiple sclerosis (MS), an unpredictable, often disabling disease of the ...

  16. Jalgpallisõjal polnud jalgpalliga mingit seost / Allan Espenberg

    Index Scriptorium Estoniae

    Espenberg, Allan

    2005-01-01

    14. juulil 1969 ründas El Salvador riigipea Fidel Sanchez Hernandeze korraldusel naaberriiki Hondurast. Rahulepinguni jõuti pärast ülikeerukaid ja mitmel korral katkenud läbirääkimisi alles 1980. aastal

  17. Muusikalil "Fantoom" ei ole seost Webberi "Ooperifantoomiga" / Andri Maimets

    Index Scriptorium Estoniae

    Maimets, Andri, 1979-

    2007-01-01

    Muusikaliteatri uuest kavandatavast muusikalist "Fantoom" (helilooja Maury Yeston), mille esietendus on 16. novembril Tallinna linnahallis. 20. juunil esietenduvast lavastusest "Tutvumiskuulutus", lavastaja Mait Malmstein

  18. Vaccines and multiple sclerosis

    DEFF Research Database (Denmark)

    Mailand, Mia Topsøe; Frederiksen, Jette Lautrup

    2017-01-01

    Vaccinations are often the most effective tool against some disease known to mankind. This study offers a literature review on the role of vaccines regarding the risk of developing multiple sclerosis (MS) and MS relapse. The method used in this study is a systematic literature review on the datab......Vaccinations are often the most effective tool against some disease known to mankind. This study offers a literature review on the role of vaccines regarding the risk of developing multiple sclerosis (MS) and MS relapse. The method used in this study is a systematic literature review...... on the database PubMed. The study found no change in risk of developing multiple sclerosis (MS) after vaccination against hepatitis B virus, human papillomavirus, seasonal influenza, measles-mumps-rubella, variola, tetanus, Bacillus Calmette-Guérin (BCG), polio, or diphtheria. No change in risk of relapse...

  19. Multiple sclerosis; Multiple Sklerose

    Energy Technology Data Exchange (ETDEWEB)

    Grunwald, I.Q.; Kuehn, A.L.; Backens, M.; Papanagiotou, P. [Universitaet des Saarlandes, Abteilung fuer Diagnostische und Interventionelle Neuroradiologie, Radiologische Klinik, Homburg/Saar (Germany); Shariat, K. [Universitaet des Saarlandes, Klinik fuer Neurochirurgie, Homburg/Saar (Germany); Kostopoulos, P. [Universitaet des Saarlandes, Klinik fuer Neurologie, Homburg/Saar (Germany)

    2008-06-15

    Multiple sclerosis is the most common chronic inflammatory disease of myelin with interspersed lesions in the white matter of the central nervous system. Magnetic resonance imaging (MRI) plays a key role in the diagnosis and monitoring of white matter diseases. This article focuses on key findings in multiple sclerosis as detected by MRI. (orig.) [German] Die Multiple Sklerose (MS) ist die haeufigste chronisch-entzuendliche Erkrankung des Myelins mit eingesprengten Laesionen im Bereich der weissen Substanz des zentralen Nervensystems. Die Magnetresonanztomographie (MRT) hat bei der Diagnosestellung und Verlaufskontrolle eine Schluesselrolle. Dieser Artikel befasst sich mit Hauptcharakteristika der MR-Bildbebung. (orig.)

  20. Mesial temporal sclerosis

    African Journals Online (AJOL)

    Kurt

    2005-07-29

    Jul 29, 2005 ... Introduction. Mesial temporal sclerosis is the commonest cause of partial complex seizures. The aetiology of this condi- tion is controversial, but it is postulat- ed that both acquired and develop- mental processes may be involved. Familial cases have also been reported. Magnetic resonance imaging. (MRI) ...

  1. Tremor in multiple sclerosis

    NARCIS (Netherlands)

    Koch, Marcus; Mostert, Jop; Heersema, Dorothea; De Keyser, Jacques

    Tremor is estimated to occur in about 25 to 60 percent of patients with multiple sclerosis (MS). This symptom, which can be severely disabling and embarrassing for patients, is difficult to manage. Isoniazid in high doses, carbamazepine, propranolol and gluthetimide have been reported to provide

  2. Seizures in multiple sclerosis

    NARCIS (Netherlands)

    Koch, Marcus; Uyttenboogaart, Maarten; Polman, Susan; De Keyser, Jacques

    Seizures have long been recognized to be part of the disease spectrum of multiple sclerosis (MS). While they occur in only a minority of patients with MS, epileptic seizures can have serious consequences. The treatment of MS can be epileptogenic, and antiepileptic treatment can conversely worsen the

  3. Vaccines and multiple sclerosis

    DEFF Research Database (Denmark)

    Frederiksen, J. L.; Topsøe Mailand, M.

    2017-01-01

    An association between certain vaccinations and onset or relapse of multiple sclerosis (MS) has been debated. Based on PubMed, we made a thorough literature review and included all relevant studies, 51 on MS and 15 on optic neuritis (ON). Case studies were excluded. With the exception of a live...

  4. Zinc in multiple sclerosis

    DEFF Research Database (Denmark)

    Bredholt, Mikkel; Fredriksen, Jette Lautrup

    2016-01-01

    In the last 35 years, zinc (Zn) has been examined for its potential role in the disease multiple sclerosis (MS). This review gives an overview of the possible role of Zn in the pathogenesis of MS as well as a meta-analysis of studies having measured Zn in serum or plasma in patients with MS...

  5. Multiple Sclerosis: Can It Cause Seizures?

    Science.gov (United States)

    ... it cause seizures? Is there any connection between multiple sclerosis and epilepsy? Answers from B Mark Keegan, M. ... article: http://www.mayoclinic.org/diseases-conditions/multiple-sclerosis/expert-answers/multiple-sclerosis/FAQ-20058138 . Mayo Clinic Footer Legal Conditions ...

  6. Genetics Home Reference: juvenile primary lateral sclerosis

    Science.gov (United States)

    ... Conditions Juvenile primary lateral sclerosis Juvenile primary lateral sclerosis Printable PDF Open All Close All Enable Javascript ... the expand/collapse boxes. Description Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness ...

  7. Genetics Home Reference: amyotrophic lateral sclerosis

    Science.gov (United States)

    ... Home Health Conditions Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor ...

  8. Genetics Home Reference: tuberous sclerosis complex

    Science.gov (United States)

    ... Twitter Home Health Conditions Tuberous sclerosis complex Tuberous sclerosis complex Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Tuberous sclerosis complex is a genetic disorder characterized by the ...

  9. Emotional Disorders in People with Multiple Sclerosis

    Science.gov (United States)

    ... guideline was endorsed by the American Association of Neuroscience Nurses, the Consortium of Multiple Sclerosis Centers, and the International Organization of Multiple Sclerosis Nurses. This statement is provided ...

  10. Vascular comorbidities in multiple sclerosis

    DEFF Research Database (Denmark)

    Thormann, Anja; Magyari, Melinda; Koch-Henriksen, Nils

    2016-01-01

    To investigate the occurrence of vascular comorbidities before and after the clinical onset of multiple sclerosis. In this combined case–control and cohort study, all Danish born citizens with onset of multiple sclerosis 1980–2005 were identified from the Danish Multiple Sclerosis Registry...... and randomly matched with controls regarding year of birth, gender, and municipality on January 1st in the year of multiple sclerosis (MS) onset (index date). Individual-level information on comorbidities was obtained from several independent nationwide registries and linked to the study population by unique...

  11. Tuberous sclerosis complex

    Directory of Open Access Journals (Sweden)

    Alexander Jerman

    2014-05-01

    Full Text Available Tuberous sclerosis complex is a genetic disorder with a characteristic development of a benign tumorous growth in various tissues. Clinical picture is very heterogeneous, resulting in difficult diagnosis and unrecognized patients. In this article, we present pathophysiological basis for understanding the clinical picture and the diagnosis of tuberous sclerosis complex. The skin, central nervous system, kidneys and heart are the most commonly affected sites. The disease course is progressive. Although the great majority of lesions are benign, life expectancy and quality of life are affected by their secondary impact. Until recently, the therapy has been only symptomatic, but nowadays the inhibitors of mTOR complex, such as everolimus, are efficient in reducing the growth of tumors.

  12. Thermoregulation in multiple sclerosis

    OpenAIRE

    Davis, Scott L.; Wilson, Thad E.; White, Andrea T.; Frohman, Elliot M.

    2010-01-01

    Multiple sclerosis (MS) is a progressive neurological disorder that disrupts axonal myelin in the central nervous system. Demyelination produces alterations in saltatory conduction, slowed conduction velocity, and a predisposition to conduction block. An estimated 60–80% of MS patients experience temporary worsening of clinical signs and neurological symptoms with heat exposure. Additionally, MS may produce impaired neural control of autonomic and endocrine functions. This review focuses on f...

  13. Multiple sclerosis associated with trismus.

    Science.gov (United States)

    D'Costa, D. F.; Vania, A. K.; Millac, P. A.

    1990-01-01

    This report describes the case history of a middle-aged lady who presented with symptoms and signs over one year leading to a diagnosis of multiple sclerosis. During one of her relapses, she developed trismus--an association that has not been described before in multiple sclerosis. PMID:2099430

  14. Tuberous sclerosis complex in autism.

    Science.gov (United States)

    Guo, Xin; Tu, Wen-Jun; Shi, Xiao-Dong

    2012-09-01

    To study the prevalence rate of tuberous sclerosis complex in autistic disorder. We studied one cohort of children followed up since 2005 until 2009, with autistic disorder, to determine the incidence of tuberous sclerosis complex. We established an autistic disorder registry in 2005 at China Rehabilitation Research Center. During the 4-year period (2005-2009), we collected a database of 429 children (390 boys and 39 girls; male to female ratio 10:1) with autistic disorder and pervasive developmental disorders. We routinely examined all children with autistic disorder for any features of tuberous sclerosis complex by looking for neurocutaneous markers such as depigmented spots. In those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up. Of these, five had tuberous sclerosis complex. Thus, the prevalence rate of tuberous sclerosis complex in autistic disorder is 1.17%. All of these children were mentally retarded with moderate to severe grades. Their IQ or developmental quotient was less than 70. The prevalence rate of tuberous sclerosis complex in autistic disorder was 1.17% in our region; autism spectrum disorder is a condition that might be associated with development of tuberous sclerosis complex.

  15. Electroconvulsive Therapy in Multiple Sclerosis.

    Science.gov (United States)

    Steen, Katie; Narang, Puneet; Lippmann, Steven

    2015-01-01

    We performed a literature search regarding the safety and efficacy of electroconvulsive therapy in patients with multiple sclerosis and comorbid psychiatric symptoms. Literature review was conducted via PubMed databases. Of the cases we reviewed, most subjects with multiple sclerosis reported significant psychiatric symptom relief, with only a handful reporting neurologic deterioration. There was some evidence that active white matter lesions may be predictive of neurologic deterioration when electroconvulsive therapy is used in patients with multiple sclerosis. A brief description of the pathophysiology and effects of depression in patients with multiple sclerosis is also provided. Although no clinical recommendations or meaningful conclusions can be drawn without further investigation, the literature suggests that electroconvulsive therapy for treatment of psychiatric illnesses in patients with multiple sclerosis is safe and efficacious.

  16. Pediatric Multiple sclerosis

    OpenAIRE

    Gkampeta, Anastasia; Pavlidou, Efterpi; Saravakos, Panagiotis; Pavlou, Evangelos

    2013-01-01

    Multiple sclerosis (MS) is considered as the major cause of acquired neurological insult in young adults and the most common demyelinating disease of the central nervous system (CNS). It is an inflammatory disease characterized by multiple areas of demyelination, rupture of the blood-brain barrier and diffused disorder of the white matter. MS is relatively rare in childhood. However, 3-10% of children develop the first episode of MS before the 16th year of age. Diagnosis of MS in childhood re...

  17. Epidemiology of Multiple Sclerosis.

    Science.gov (United States)

    Howard, Jonathan; Trevick, Stephen; Younger, David S

    2016-11-01

    The epidemiology of multiple sclerosis (MS) includes a consideration of genetic and environmental factors. Comparative studies of different populations have revealed prevalence and incidence rates that vary with geography and ethnicity. With a prevalence ranging from 2 per 100,000 in Japan to greater than 100 per 100,000 in Northern Europe and North America, the burden of MS is similarly unevenly influenced by longevity and comorbid disorders. Well-powered genome-wide association studies have investigated the genetic substrate of MS, providing insight into autoimmune mechanisms involved in the etiopathogenesis of MS and elucidating possible avenues of biological treatment. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. What causes amyotrophic lateral sclerosis?

    Science.gov (United States)

    Martin, Sarah; Al Khleifat, Ahmad; Al-Chalabi, Ammar

    2017-01-01

    Amyotrophic lateral sclerosis is a neurodegenerative disease predominantly affecting upper and lower motor neurons, resulting in progressive paralysis and death from respiratory failure within 2 to 3 years. The peak age of onset is 55 to 70 years, with a male predominance. The causes of amyotrophic lateral sclerosis are only partly known, but they include some environmental risk factors as well as several genes that have been identified as harbouring disease-associated variation. Here we review the nature, epidemiology, genetic associations, and environmental exposures associated with amyotrophic lateral sclerosis. PMID:28408982

  19. [Future challenges in multiple sclerosis].

    Science.gov (United States)

    Fernández, Óscar

    2014-12-01

    Multiple sclerosis occurs in genetically susceptible individuals, in whom an unknown environmental factor triggers an immune response, giving rise to a chronic and disabling autoimmune disease. Currently, significant progress is being made in our knowledge of the frequency and distribution of multiple sclerosis and its risk factors, genetics, pathology, pathogenesis, diagnostic and prognostic markers, and treatment. This has radically changed patients' and clinicians' expectations of multiple sclerosis and has raised hope that there will soon be a way to control the disease. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  20. Skin scoring in systemic sclerosis

    DEFF Research Database (Denmark)

    Zachariae, Hugh; Bjerring, Peter; Halkier-Sørensen, Lars

    1994-01-01

    Forty-one patients with systemic sclerosis were investigated with a new and simple skin score method measuring the degree of thickening and pliability in seven regions together with area involvement in each region. The highest values were, as expected, found in diffuse cutaneous systemic sclerosis...... (type III SS) and the lowest in limited cutaneous systemic sclerosis (type I SS) with no lesions extending above wrists and ancles. A positive correlation was found to the aminoterminal propeptide of type III procollagen, a serological marker for synthesis of type III collagen. The skin score...

  1. Biosensing in multiple sclerosis.

    Science.gov (United States)

    Yousef, Andrew; Jonzzon, Soren; Suleiman, Leena; Arjona, Jennifer; Graves, Jennifer S

    2017-10-23

    The goal of using wearable biosensors in multiple sclerosis (MS) is to provide outcome metrics with higher sensitivity to deficits and better inter-test and inter-rater reliability than standard neurological exam bedside maneuvers. A wearable biosensor not only has the potential to enhance physical exams, but also offers the promise of remote evaluations of the patient either at home or with local non-specialist providers. Areas covered: We performed a structured literature review on the use of wearable biosensors in studies of multiple sclerosis. This included accelerometers, gyroscopes, eye-trackers, grip sensors, and multi-sensors. Expert commentary: Wearable sensors that are sensitive to change in function over time have great potential to serve as outcome metrics in clinical trials. Key features of generalizability are simplicity in the application of the device and delivery of data to the provider. Another important feature to establish is best sampling rate. Having too high of a sampling rate can lead to over-interpretation of noisy data On the other hand, a low sampling rate can result in an insensitive test thus missing subtle changes of clinical interest. Of most importance is to establish metrics derived from wearable devices that provide meaningful data in longitudinal studies.

  2. Idiopatic Osteo Sclerosis

    Directory of Open Access Journals (Sweden)

    MM Salari

    2004-10-01

    Full Text Available Introduction: The term of idiopatic osteosclerosis (I.O have been used to describe a localised area of radiopacity of unknown origin. The condition is usually asymptomatic and discovered on a radiograph taken for other reason. The radiopacity is variable in size, shape, outline and density. The purpose of this investigation was to determine the frequncy, age and sex distribution and anatomic location of I.O and its relation to history of extraction of decidious teeth. Materials and Methods: Standard panoramic radiographs of 917 patients(494 female & 423 male were examined at the Department of oral and maxillofacial radiology, Yazd dental college and private clinic. The age, sex as well as the anatomic location of I.O is outlined I.O mass were observed in patients. The radiographs was studies carefully by oral radiologist and sclerosis mass place was marked then clinical examination was done. Results: In total 54 sclerosis mass in 52 mandibuls were observed According to the location of lesions premolars of lower jaws was higher than other (59.6% in female & 40.4% in male P=0.392. Most of cases were occurred in 3rd & forth decade of life (P=0.018. The most prevalence areas were premolar/ molar/ between firstmolar second premolar/ between canin & first premolar. Conclusion: According to the our finding that the most prevalence was belogned to sclerotic mass that was not related to the root, the developing theory in a cause of mass that seems to be accepted.

  3. Amyotrophic Lateral Sclerosis and Multiple Sclerosis Overlap: A Case Report

    OpenAIRE

    Francesca Trojsi; Anna Sagnelli; Giovanni Cirillo; Giovanni Piccirillo; Cinzia Femiano; Francesco Izzo; Maria Rosaria Monsurrò; Gioacchino Tedeschi

    2012-01-01

    The concurrence of amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) is extremely rare. We reported the case of a 33-year-old woman with a past history of paresthesias at the right hand, who developed progressive quadriparesis with muscular atrophy of limbs and, finally, bulbar signs and dyspnea. Clinical and neurophysiologic investigations revealed upper and lower motor neuron signs in the bulbar region and extremities, suggesting the diagnosis of ALS. Moreover, magnetic resona...

  4. [Systemic sclerosis: a multisystem disease

    NARCIS (Netherlands)

    Berrevoets, M.A.; Markhorst, J.; Meek, I.; Ede, A.E. van; Vonk, M.C.

    2014-01-01

    Systemic sclerosis is a rare, systemic autoimmune disease, characterized by inflammation, vasculopathy and fibrosis of the skin and internal organs. The disease is associated with a significantly increased morbidity and mortality, and can be rapidly progressive. Interstitial lung disease, renal

  5. Occupational therapy for multiple sclerosis.

    NARCIS (Netherlands)

    Steultjens, E.M.J.; Dekker, J.; Bouter, L.M.; Cardol, M.; Nes, J.C.M. van de; Ende, C.H.M. van den

    2003-01-01

    Background: Multiple sclerosis (MS) patients are referred to occupational therapy with complaints about fatigue, limb weakness, alteration of upper extremity fine motor coordination, loss of sensation and spasticity that causes limitations in performance of activities of daily living and social

  6. Multiple Sclerosis and Vitamin D

    Science.gov (United States)

    ... similar topics, appears in the following collection(s): All Demyelinating disease ( CNS) http://www.neurology.org//cgi/collection/all_demyelinating_disease_cn s Multiple sclerosis http://www.neurology.org//cgi/ ...

  7. Statin treatment in multiple sclerosis

    DEFF Research Database (Denmark)

    Pihl-Jensen, Gorm; Tsakiri, Anna; Frederiksen, Jette Lautrup

    2015-01-01

    BACKGROUND: Multiple sclerosis (MS) is a chronic inflammatory disease that leads to progressive disability. Statins [hydroxymethylglutaryl-CoA (HMG-CoA) reductase inhibitors] are widely prescribed drugs in hypercholesterolemia. They exert immunomodulatory and neurotrophic effects and are attractive...

  8. Defining active progressive multiple sclerosis

    DEFF Research Database (Denmark)

    Sellebjerg, Finn; Börnsen, Lars; Ammitzbøll, Cecilie

    2017-01-01

    BACKGROUND: It is unknown whether disease activity according to consensus criteria (magnetic resonance imaging activity or clinical relapses) associate with cerebrospinal fluid (CSF) changes in progressive multiple sclerosis (MS). OBJECTIVE: To compare CSF biomarkers in active and inactive...

  9. Multiple sclerosis and organic solvents

    DEFF Research Database (Denmark)

    Mortensen, J T; Brønnum-Hansen, Henrik; Rasmussen, K

    1998-01-01

    We investigated a possible causal relation between exposure to organic solvents in Danish workers (housepainters, typographers/printers, carpenters/cabinetmakers) and onset of multiple sclerosis. Data on men included in the Danish Multiple Sclerosis Register (3,241 men) were linked with data from......, and butchers. Over a follow-up period of 20 years, we observed no increase in the incidence of multiple sclerosis among men presumed to be exposed to organic solvents. It was not possible to obtain data on potential confounders, and the study design has some potential for selection bias. Nevertheless......, the study does not support existing hypotheses regarding an association between occupational exposure to organic solvents and multiple sclerosis....

  10. Multiple sclerosis after infectious mononucleosis

    DEFF Research Database (Denmark)

    Nielsen, Trine Rasmussen; Rostgaard, Klaus; Nielsen, Nete Munk

    2007-01-01

    BACKGROUND: Infectious mononucleosis caused by the Epstein-Barr virus has been associated with increased risk of multiple sclerosis. However, little is known about the characteristics of this association. OBJECTIVE: To assess the significance of sex, age at and time since infectious mononucleosis......, and attained age to the risk of developing multiple sclerosis after infectious mononucleosis. DESIGN: Cohort study using persons tested serologically for infectious mononucleosis at Statens Serum Institut, the Danish Civil Registration System, the Danish National Hospital Discharge Register, and the Danish...... Multiple Sclerosis Registry. SETTING: Statens Serum Institut. PATIENTS: A cohort of 25 234 Danish patients with mononucleosis was followed up for the occurrence of multiple sclerosis beginning on April 1, 1968, or January 1 of the year after the diagnosis of mononucleosis or after a negative Paul...

  11. [Current therapy of multiple sclerosis].

    Science.gov (United States)

    Antonio García Merino, J

    2014-12-01

    Since the introduction of interferon beta 1 b for the treatment of multiple sclerosis, there has been a progressive increase in the number of drugs available for this disease. Currently, 11 drugs have been approved in Spain, and their indications depend on specific clinical characteristics. The present article reviews these indications and also discusses other medications without official approval that have also been used in multiple sclerosis. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  12. Cortical pathology in multiple sclerosis.

    Science.gov (United States)

    Stadelmann, Christine; Albert, Monika; Wegner, Christiane; Brück, Wolfgang

    2008-06-01

    Multiple sclerosis is the most common chronic, disabling central nervous system disease in young adults, characterized by inflammatory demyelinating white matter lesions with glial scar formation and axonal loss. Lately, evidence has accumulated that large areas of grey matter are affected in multiple sclerosis patients. Findings in post-mortem brain tissue support the notion that cortical demyelination is frequent and extensive, especially in patients with chronic multiple sclerosis. Cortical lesions differ from white matter lesions with respect to inflammatory cell infiltration, gliosis, and remyelination. Thus, differences in cortical and white matter lesion pathogenesis have been proposed. Experimental models suggest a decisive role for antimyelin antibodies in cortical demyelination. Topical studies focus on damage to neurons, dendrites, and synapses in cortical multiple sclerosis lesions. Improved imaging techniques for the detection of cortical lesions are currently developed and will provide the basis for future clinicopathological correlative studies. In summary, recent years have opened our eyes to the extensive grey matter involvement in multiple sclerosis. Studies on the pathogenesis of cortical demyelination, cortical damage, and repair will elucidate basic principles of multiple sclerosis lesion formation. However, more sensitive imaging tools are required to study the impact of cortical lesions on clinical symptoms, disability, and disease progression.

  13. Multiple sclerosis genetics.

    Science.gov (United States)

    Canto, Ester; Oksenberg, Jorge R

    2018-01-01

    A broad scientific consensus has emerged linking multiple sclerosis (MS) risk to multiple independent and interacting DNA variants that are relatively frequent in the population and act in concert with environmental exposures. The multifactorial, polygenic model of heritability provided the rationale and impetus to pursue genome-wide association studies (GWAS), which have been highly successful in uncovering genetic variants influencing susceptibility. Over 200 loci have been firmly associated with MS susceptibility. The main association signal genome-wide maps to the major histocompatibility complex ( MHC) gene cluster in chromosome 6p21. This association has been observed across all populations studied. However, a significant proportion of MS heritability remains unexplained. Decoding the genetics of MS represents a long-standing and important research goal in this disease, as the demonstration of even modest functional genomic effects on risk or the course of MS is likely to reveal fundamental disease mechanisms and possibly yield new therapeutic opportunities.

  14. Vasculitis in Systemic Sclerosis

    Directory of Open Access Journals (Sweden)

    Lily Kao

    2010-01-01

    Full Text Available Systemic sclerosis (SSc is a multiorgan connective tissue disease characterized by autoantibody production and fibroproliferative stenosis of the microvasculature. The vascoluopathy associated with SSc is considered to be noninflammatory, yet frank vasculitis can complicate SSc, posing diagnostic and therapeutic challenges. Here, we have reviewed the literature for reports of small-, medium-, and large-vessel vasculitis occurring in SSc. Amongst 88 reported cases of vasculitis in SSc, patients with ANCA-associated vasculitis appear to present a unique subclass in that they combined typical features of SSc with the renal manifestation of ANCA-associated glomerulonephritis. Other vasculitic syndromes, including large-vessel vasculitis, Behcet's disease, cryoglobulinemia, and polyarteritis nodosa, are rarely encountered in SSc patients. ANCA-associated vasculitis needs to be considered as a differential diagnosis in SSc patients presenting with renal insufficiency, as renal manifestations may result from distinct disease processes and require appropriate diagnostic testing and treatment.

  15. Vaccines in Multiple Sclerosis.

    Science.gov (United States)

    Williamson, Eric M L; Chahin, Salim; Berger, Joseph R

    2016-04-01

    Vaccinations help prevent communicable disease. To be valuable, a vaccine's ability to prevent disease must exceed the risk of adverse effects from administration. Many vaccines present no risk of infection as they are comprised of killed or non-infectious components while other vaccines consist of live attenuated microorganisms which carry a potential risk of infection-particularly, in patients with compromised immunity. There are several unique considerations with respect to vaccination in the multiple sclerosis (MS) population. First, there has been concern that vaccination may trigger or aggravate the disease. Second, disease-modifying therapies (DMTs) employed in the treatment of MS may increase the risk of infectious complications from vaccines or alter their efficacy. Lastly, in some cases, vaccination strategies may be part of the treatment paradigm in attempts to avoid complications of therapy.

  16. Update on Hippocampal Sclerosis.

    Science.gov (United States)

    Dutra, Juliana R; Cortés, Etty P; Vonsattel, Jean Paul G

    2015-10-01

    The diagnostic hallmarks of hippocampal sclerosis (HS) are severe volume loss of the hippocampus, severe neuronal loss, and reactive gliosis involving primarily two especially vulnerable fields, CA1 and the subiculum. Occasionally, HS may be the only neuropathological change detected in older individuals with dementia and is known as pure HS. In the majority of cases, HS occurs in the setting of other degenerative changes, usually Alzheimer's disease (AD). In these cases, it is classified as combined HS. Although a clinical profile for HS has been identified, its similarities with AD make the diagnosis during life quite challenging; thus, the diagnosis is often made postmortem. The pathogenesis of HS is not completely understood, but the strong association with transactive response DNA-binding protein 43 (TDP-43), in approximately 90%, and the recent discovery of genetic risk factors are important contributions to a better understanding of the disease process.

  17. Primary Lateral Sclerosis : diagnostic boundaries and outcome

    NARCIS (Netherlands)

    Brugman, F.

    2010-01-01

    Primary lateral sclerosis (PLS) is a diagnosis of exclusion in sporadic patients with an adult-onset gradually progressive upper motor neuron (UMN) syndrome. Differentiation between PLS, amyotrophic lateral sclerosis (ALS), and sporadic presentation of hereditary spastic paraparesis (HSP) is

  18. Vitamin D Levels Predict Multiple Sclerosis Progression

    Science.gov (United States)

    ... Research Matters NIH Research Matters February 3, 2014 Vitamin D Levels Predict Multiple Sclerosis Progression Among people ... sclerosis (MS), those with higher blood levels of vitamin D had better outcomes during 5 years of ...

  19. Complementary and Alternative Medicine for Multiple Sclerosis

    Science.gov (United States)

    ... their FAMILIES COMPLEMENTARY AND ALTERNATIVE MEDICINE FOR MULTIPLE SCLEROSIS This fact sheet is provided to help you ... and alternative medicine (CAM) for treatment of multiple sclerosis (MS). The American Academy of Neurology (AAN) is ...

  20. Accelerated Cure Project for Multiple Sclerosis

    Science.gov (United States)

    ... content Accelerating research toward a cure for multiple sclerosis Toggle navigation Search form Search Connect Volunteer Donate ... to accelerate efforts toward a cure for multiple sclerosis by rapidly advancing research that determines its causes ...

  1. Characterising aggressive multiple sclerosis.

    Science.gov (United States)

    Menon, Suresh; Shirani, Afsaneh; Zhao, Yinshan; Oger, Joel; Traboulsee, Anthony; Freedman, Mark S; Tremlett, Helen

    2013-11-01

    To explore the occurrence and characteristics of aggressive multiple sclerosis (AMS) in adult-onset multiple sclerosis (MS) patients. Prospectively collected data (1980-2009) from British Columbia, Canada, were retrospectively analysed. AMS was defined in three different ways (AMS1, 2 and 3): 'AMS1'--confirmed Expanded Disability Status Scale (EDSS) ≥ 6 within 5 years of MS onset; 'AMS2'--confirmed EDSS ≥ 6 by age 40; and 'AMS3'--secondary progressive MS within 3 years of a relapsing-onset course. Three respective 'non-aggressive' MS comparison cohorts were selected. Patients' characteristics were compared between aggressive and non-aggressive cohorts using multivariable logistic regression, with findings expressed as adjusted OR (AOR) and 95% CI. Application of the three definitions to the source population of 5891 patients resulted in 235/4285 (5.5%) patients fulfilling criteria for AMS1 (59.6% were female; 74.5% had relapsing-onset MS), 388/2762 (14.0%) for AMS2 (65.2% were female; 92.8% had relapsing-onset MS) and 195/4918 (4.0%) patients for AMS3 (61.0% were female). Compared to the respective control cohorts, those with AMS were more likely to be male (AOR=1.5, 95% CI 1.1 to 2.0 (AMS1); 1.6, 95% CI 1.3 to 2.1 (AMS2); 1.8, 95% CI 1.3 to 2.4 (AMS3)), older at MS symptom onset (AOR=1.1; 95% CI 1.1 to 1.1 (AMS1 and AMS3)) and have primary progressive MS (AOR=2.3, 95% CI 1.6 to 3.3 (AMS1); 2.7, 95% CI 1.7 to 4.4 (AMS2)). AMS was identified in 4-14% of patients, depending on the definition used. Although there was a relative preponderance of men and primary progressive MS presenting with AMS, the majority of patients were still women and those with relapsing-onset MS.

  2. Disability in multiple sclerosis

    Science.gov (United States)

    Chamot, Eric; Salter, Amber R.; Cutter, Gary R.; Bacon, Tamar E.; Herbert, Joseph

    2013-01-01

    Objective: To create a reference table of disability outcomes in multiple sclerosis (MS) that would enable patients to rank their disability relative to others' with similar disease duration and to develop a cost-effective research tool for comparing MS severity across patient populations and time periods. Methods: The North American Research Committee on Multiple Sclerosis (NARCOMS) Registry collects disability data from patients with MS on a validated, 9-point Patient-Determined Disease Steps (PDDS) scale. We compiled the Disability Expectancy Table, which displays cumulative frequencies of PDDS scores for each year of disease duration, from 0 to 45 years. We also tabulated disease duration–adjusted mean ranks of PDDS scores, referred to as Patient-derived MS Severity Scores (P-MSSS). Results: The cohort consisted of 27,918 NARCOMS enrollees, 72.7% of whom were female and 90.1% of whom were white. Mean age at symptom onset was 30.1 ± 10.1 years, and age at enrollment was 47.1 ± 11.0 years. The Disability Expectancy Table and P-MSSS afford a detailed overview of disability outcomes in a large MS cohort over a 45-year period. In the first year of disease, 15% of patients reported need of ambulatory aid, and 4% needed bilateral assistance or worse; after 45 years of disease, 76% of patients required ambulatory aid, and 52% bilateral assistance or worse. Proportion of patients who reported minimal or no interference in daily activities (PDDS ≤ 1) declined from 63% in the first year to 8% after 45 years of disease. Conclusion: The Disability Expectancy Table allows individual patients to determine how their disability ranks relative to NARCOMS enrollees with the same disease duration. P-MSSS may be used to compare disability across patient populations and to track disease progression in patient cohorts. P-MSSS does not require a formal neurologic examination and may therefore find wide applicability as a practical and cost-effective outcome measure in

  3. Reactive sclerosis of the pedicle

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sun Wha; Lim, Jae Hoon [Kyung Hee University Hospital, Seoul (Korea, Republic of)

    1991-01-15

    The vertebral pedicles of the neural arch represent the 'eyes' through which normal variants, anomalies and acquired pathologic conditions can be detected on lumbar spine radiographs. Close scrutiny of the size, shape, density and margins of the pedicles may permit the radiologist to suggest a wide variety of disease. Radiologic attention is almost always directed at determining of sclerosis or lysis of the pedicle. Numerous conditions causing sclerosis of the pedicle have been reported and among them osteoidosteoma and osteoblastoma are well known tumors. However the real significance of reactive sclerosis of the pedicle related to the unstable neural arch such as contralateral spondyloysis have drawn little attention in the literature. The purpose of this report is to analyze the nature of arch deficiency which is the primary lesion related to the sclerotic pedicle, and emphasizes the significance of radiologic features of reactive pedicular sclerosis for clinical practice. Cautious observation of both sclerotic lesion and the contralateral neural arch is essential in radiologic evaluation of the scleortic pedicle and the presence of a contraslateral pars defect in the same vertebral segment suggests reactive sclerosis of the pedicle.

  4. Optineurin and amyotrophic lateral sclerosis.

    Science.gov (United States)

    Maruyama, Hirofumi; Kawakami, Hideshi

    2013-07-01

    Amyotrophic lateral sclerosis is a devastating disease, and thus it is important to identify the causative gene and resolve the mechanism of the disease. We identified optineurin as a causative gene for amyotrophic lateral sclerosis. We found three types of mutations: a homozygous deletion of exon 5, a homozygous Q398X nonsense mutation and a heterozygous E478G missense mutation within its ubiquitin-binding domain. Optineurin negatively regulates the tumor necrosis factor-α-induced activation of nuclear factor kappa B. Nonsense and missense mutations abolished this function. Mutations related to amyotrophic lateral sclerosis also negated the inhibition of interferon regulatory factor-3. The missense mutation showed a cyotoplasmic distribution different from that of the wild type. There are no specific clinical symptoms related to optineurin. However, severe brain atrophy was detected in patients with homozygous deletion. Neuropathologically, an E478G patient showed transactive response DNA-binding protein of 43 kDa-positive neuronal intracytoplasmic inclusions in the spinal and medullary motor neurons. Furthermore, Golgi fragmentation was identified in 73% of this patient's anterior horn cells. In addition, optineurin is colocalized with fused in sarcoma in the basophilic inclusions of amyotrophic lateral sclerosis with fused in sarcoma mutations, and in basophilic inclusion body disease. These findings strongly suggest that optineurin is involved in the pathogenesis of amyotrophic lateral sclerosis. © 2012 Japan Geriatrics Society.

  5. Immunopathogenesis of multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Racke Michael

    2009-01-01

    Full Text Available Multiple sclerosis (MS is a suspected autoimmune disease in which myelin-specific CD4+ and CD8+ T cells enter the central nervous system (CNS and initiate an inflammatory response directed against myelin and other components of the CNS. Acute MS exacerbations are believed be the result of active inflammation, and progression of disability is generally believed to reflect accumulation of damage to the CNS, particularly axonal damage. Over the last several years, the pathophysiology of MS is being appreciated to be much more complex, and it appears that the development of the MS plaque involves a large number of cell populations, including CD8+ T lymphocytes, B cells, and Th17 cells (a population of helper T cells that secrete the inflammatory cytokine IL-17. The axonal transection and degeneration that is thought to represent the basis for progressive MS is now recognized to begin early in the disease process and to continue in the progressive forms of the disease. Molecules important for limiting aberrant neural connections in the CNS have been identified, which suppress axonal sprouting and regeneration of transected axons within the CNS. Pathways have also been identified that prevent remyelination of the MS lesion by oligodendrocyte precursors. Novel neuroimaging methodologies and potential biomarkers are being developed to monitor various aspects of the disease process in MS. As we identify the pathways responsible for the clinical phenomena of MS, we will be able to develop new therapeutic strategies for this disabling illness of young adults.

  6. Neuromodulation in multiple sclerosis.

    Science.gov (United States)

    Abboud, Hesham; Hill, Eddie; Siddiqui, Junaid; Serra, Alessandro; Walter, Benjamin

    2017-11-01

    Neuromodulation, or the utilization of advanced technology for targeted electrical or chemical neuronal stimulation or inhibition, has been expanding in several neurological subspecialties. In the past decades, immune-modulating therapy has been the main focus of multiple sclerosis (MS) research with little attention to neuromodulation. However, with the recent advances in disease-modifying therapies, it is time to shift the focus of MS research to neuromodulation and restoration of function as with other neurological subspecialties. Preliminary research supports the value of intrathecal baclofen pump and functional electrical stimulation in improving spasticity and motor function in MS patients. Deep brain stimulation can improve MS-related tremor and trigeminal neuralgia. Spinal cord stimulation has been shown to be effective against MS-related pain and bladder dysfunction. Bladder overactivity also responds to sacral neuromodulation and posterior tibial nerve stimulation. Despite limited data in MS, transcranial magnetic stimulation and brain-computer interface are promising neuromodulatory techniques for symptom mitigation and neurorehabilitation of MS patients. In this review, we provide an overview of the available neuromodulatory techniques and the evidence for their use in MS.

  7. Pediatric multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Patel Yashma

    2009-01-01

    Full Text Available Pediatric multiple sclerosis (MS represents a particular MS subgroup with unique diagnostic challenges and many unanswered questions. Due to the narrow window of environmental exposures and clinical disease expression, children with MS may represent a particularly important group to study to gain a better understanding of MS pathogenesis. Acute disseminated encephalomyelitis (ADEM is more common in children than in adults, often making the differential diagnosis of MS, particularly a clinically isolated syndrome, quite difficult. Although both disorders represent acute inflammatory disorders of the central nervous system and have overlapping symptoms, ADEM is typically (not always self-limiting. The presence of encephalopathy is much more characteristic of ADEM and may help in distinguishing between the two. Young children (under ten years old with MS differ the most from adults. They have a lower frequency of oligoclonal bands in their cerebrospinal fluid and are less likely to have discrete lesions on MRI. Problems of cognitive dysfunction and psychosocial adjustment have particularly serious implications in both children and teenagers with MS. Increased awareness of these difficulties and interventions are needed. While clinical research on therapies to alter the disease course is limited, the available data fortunately suggests that disease-modifying therapy is well tolerated and likely to be effective. Ultimately, multinational research studies are necessary to advance our knowledge of the causes, symptoms, and treatment of pediatric MS and such collaborations are currently underway.

  8. Gut microbiome and multiple sclerosis.

    Science.gov (United States)

    Bhargava, Pavan; Mowry, Ellen M

    2014-10-01

    The commensal flora that lives in the human gut is a unique ecosystem that has evolved over millennia with human beings. The importance of the microbiota in various bodily functions is gradually becoming more apparent. Besides the gut microbiome playing a role in bowel-related disorders, a role in metabolic and autoimmune disorders is becoming clearer. The gut bacteria play a role in educating the immune system and hence may be a player in the development of multiple sclerosis. We examine the different sources of information linking the gut microbiota to multiple sclerosis and examine the future avenues for utilizing the knowledge of the gut microbiome to potentially treat and prevent multiple sclerosis.

  9. Cognitive deficits in multiple sclerosis

    DEFF Research Database (Denmark)

    Lund, H; Jønsson, A; Andresen, Jesper Graubæk

    2012-01-01

    Objectives - Although disease load in multiple sclerosis (MS) often is based on T2 lesion volumes, the changes in T2 of normal appearing brain tissue (NABT) are rarely considered. By means of magnetic resonance, (MR) we retrospectively investigated whether T2 changes in NABT explain part of the c......Objectives - Although disease load in multiple sclerosis (MS) often is based on T2 lesion volumes, the changes in T2 of normal appearing brain tissue (NABT) are rarely considered. By means of magnetic resonance, (MR) we retrospectively investigated whether T2 changes in NABT explain part...... Expanded Disability Status Scale (EDSS) and the Multiple Sclerosis Impairment Scale (MSIS). Voxel-wise T2 estimates and total T2 lesion volume were tested for correlations with eight cognitive domains, a general cognitive dysfunction factor (CDF), and the two clinical scales. Results - We found distinct...

  10. Clinical diagnosis of multiple sclerosis

    Directory of Open Access Journals (Sweden)

    ZHANG Xing-hu

    2012-04-01

    Full Text Available Multiple sclerosis (MS is an inflammatory demyelinating disease in central nervous system. The etiology is still unknown. The pathogenesis may be related to autoimmune response. Clinical features are dissemination in time (multiple attacks and dissemination in space (multifocal episode. The common used examinations including brain or spinal MRI, CSF analysis and evoked potentials. The latest diagnostic criteria is McDonald criteria published in 2010. It is now accepted that neuromyelitis optica (NMO is different from MS in clinical, pathology, imaging and so on. Due to the diversity in clinical manifestation and the lack of specific biological parameters, the diagnosis of multiple sclerosis is still challenging.

  11. Exercise and multiple sclerosis.

    Science.gov (United States)

    White, Lesley J; Dressendorfer, Rudolph H

    2004-01-01

    The pathophysiology of multiple sclerosis (MS) is characterised by fatigue, motor weakness, spasticity, poor balance, heat sensitivity and mental depression. Also, MS symptoms may lead to physical inactivity associated with the development of secondary diseases. Persons with MS are thus challenged by their disability when attempting to pursue an active lifestyle compatible with health-related fitness. Although exercise prescription is gaining favour as a therapeutic strategy to minimise the loss of functional capacity in chronic diseases, it remains under-utilised as an intervention strategy in the MS population. However, a growing number of studies indicate that exercise in patients with mild-to-moderate MS provides similar fitness and psychological benefits as it does in healthy controls. We reviewed numerous studies describing the responses of selected MS patients to acute and chronic exercise compared with healthy controls. All training studies reported positive outcomes that outweighed potential adverse effects of the exercise intervention. Based on our review, this article highlights the role of exercise prescription in the multidisciplinary approach to MS disease management for improving and maintaining functional capacity. Despite the often unpredictable clinical course of MS, exercise programmes designed to increase cardiorespiratory fitness, muscle strength and mobility provide benefits that enhance lifestyle activity and quality of life while reducing risk of secondary disorders. Recommendations for the evaluation of cardiorespiratory fitness, muscle performance and flexibility are presented as well as basic guidelines for individualised exercise testing and training in MS. Special considerations for exercise, including medical management concerns, programme modifications and supervision, in the MS population are discussed.

  12. MRI mimics of multiple sclerosis

    NARCIS (Netherlands)

    Sanchez Aliaga, E.; Barkhof, F.

    2014-01-01

    Diagnosis of multiple sclerosis (MS) is based on the demonstration of dissemination of lesions in space (DIS) and in time (DIT), as well as on the exclusion of an alternative neurologic disorder. As a paraclinical tool brain and/or spinal cord magnetic resonance imaging (MRI), showing typical lesion

  13. Oral treatment for multiple sclerosis

    NARCIS (Netherlands)

    Killestein, J.; Rudick, R.A.; Polman, C.H.

    2011-01-01

    Background: The armamentarium for the treatment of relapsing-remitting multiple sclerosis (RRMS) is increasing rapidly. Several oral treatments have shown benefit and will generate much interest because of the convenience of such administration. However, availability of convenient oral drugs will

  14. Uric acid in multiple sclerosis

    NARCIS (Netherlands)

    Koch, M; De Keyser, J

    Peroxynitrite, a reactive oxidant formed by the reaction of nitric oxide with superoxide at sites of inflammation in multiple sclerosis (MS), is capable of damaging tissues and cells. Uric acid, a natural scavenger of peroxynitrite, reduces inflammatory demyelination in experimental allergic

  15. Social consequences of multiple sclerosis

    DEFF Research Database (Denmark)

    Pfleger, C C H; Flachs, E M; Koch-Henriksen, N

    2010-01-01

    BACKGROUND: Time to disability pension is one of the endpoints to be used to determine the prognosis of multiple sclerosis (MS) in prospective studies. OBJECTIVE:   To assess the time to cessation of work and receiving disability pension in MS, and how it may depend on gender, type of work and age...

  16. Childhood Multiple Sclerosis: A Review

    Science.gov (United States)

    Waldman, Amy; O'Connor, Erin; Tennekoon, Gihan

    2006-01-01

    Multiple sclerosis (MS) is an autoimmune demyelinating disorder of the central nervous system (CNS) that is increasingly recognized as a disease that affects children. Similar to adult-onset MS, children present with visual and sensory complaints, as well as weakness, spasticity, and ataxia. A lumbar puncture can be helpful in diagnosing MS when…

  17. Genetic aspects of Multiple Sclerosis

    NARCIS (Netherlands)

    Boon, Maartje

    2006-01-01

    General introduction into Multiple Sclerosis (MS). Chapter 2 review of the literature on genetic epidemiology of MS with emphasis on whole genome screens. Chapter 3 Haplotype sharing, association analysis and TDT in the HLA region in MS patients. Support for a 50 kb interval containing HLA DQB1.

  18. Cortical deafness in multiple sclerosis

    OpenAIRE

    Tabira, T; Tsuji, S; Nagashima, T.; Nakajima, T.; Kuroiwa, Y

    1981-01-01

    Cortical deafness in a patient with multiple sclerosis is reported. Complete recovery from total deafness was seen following stages of auditory agnosia and pure word deafness. The otological and neurophysiological studies suggested lesions in subcortical white matter. This report stresses the rarity of the condition, its subcortical origin and good prognosis.

  19. Psychiatric onset of multiple sclerosis.

    NARCIS (Netherlands)

    Jongen, P.J.H.

    2006-01-01

    We present a patient with psychotic disorder as onset of relapsing-remitting multiple sclerosis (MS). In this patient, a 26-year-old female, neurological examination revealed only minor abnormalities. As cranial CT scan was normal, her psychosis was diagnosed as psychogenic. Literature on

  20. The immunogenetics of multiple sclerosis

    DEFF Research Database (Denmark)

    Svejgaard, A.

    2008-01-01

    with complex genetic backgrounds. HLA controls immune response genes and HLA associations indicate the involvement of autoimmunity. Multiple sclerosis (MS) was one of the first conditions proven to be HLA associated involving primarily HLA class II factors. We review how HLA studies give fundamental...

  1. Tuberous sclerosis Anaesthetic considerations | Bosenberg ...

    African Journals Online (AJOL)

    Southern African Journal of Anaesthesia and Analgesia. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 9, No 2 (2003) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register. Tuberous sclerosis Anaesthetic ...

  2. Neuromyelitis optica and multiple sclerosis

    DEFF Research Database (Denmark)

    Bennett, J. L.; de Seze, J.; Lana-Peixoto, M.

    2015-01-01

    Neuromyelitis optica (NMO) is an inflammatory autoimmune disease of the central nervous system that preferentially targets the optic nerves and spinal cord. The clinical presentation may suggest multiple sclerosis (MS), but a highly specific serum autoantibody against the astrocytic water channel...

  3. The danish multiple sclerosis registry

    DEFF Research Database (Denmark)

    Brønnum-Hansen, Henrik; Koch-Henriksen, Nils; Stenager, Egon

    2011-01-01

    Introduction: The Danish Multiple Sclerosis (MS) Registry was established in 1956. Content: The register comprises data on all Danes who had MS in 1949 or who have been diagnosed since. Data on new cases and updated information on persons with an MS diagnosis already notified are continuously...

  4. Hippocampal Sclerosis: Causes and Prevention.

    Science.gov (United States)

    Walker, Matthew Charles

    2015-06-01

    Hippocampal sclerosis is the commonest cause of drug-resistant epilepsy in adults, and is associated with alterations to structures and networks beyond the hippocampus.In addition to being a cause of epilepsy, the hippocampus is vulnerable to damage from seizure activity. In particular, prolonged seizures (status epilepticus) can result in hippocampal sclerosis. The hippocampus is also vulnerable to other insults including traumatic brain injury, and inflammation. Hippocampal sclerosis can occur in association with other brain lesions; the prevailing view is that it is probably a secondary consequence. In such instances, successful surgical treatment usually involves the resection of both the lesion and the involved hippocampus. Experimental data have pointed to numerous neuroprotective strategies to prevent hippocampal sclerosis. Initial neuroprotective strategies aimed at glutamate receptors may be effective, but later, metabolic pathways, apoptosis, reactive oxygen species, and inflammation are involved, perhaps necessitating the use of interventions aimed at multiple targets. Some of the therapies that we use to treat status epilepticus may neuroprotect. However, prevention of neuronal death does not necessarily prevent the later development of epilepsy or cognitive deficits. Perhaps, the most important intervention is the early, aggressive treatment of seizure activity, and the prevention of prolonged seizures. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  5. Suicide attempts in multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, Elsebeth Nylev; Jensen, Børge; Stenager, Maria

    2011-01-01

    The purposes of the study were (1) to estimate the risk of suicide attempts in multiple sclerosis (MS) patients in Denmark and compare the risk to the background population in the County of Funen, Denmark; (2) to estimate the risk of suicide attempts in MS patients receiving immunomodulating...

  6. Teriflunomide for multiple sclerosis.

    Science.gov (United States)

    He, Dian; Zhang, Chao; Zhao, Xia; Zhang, Yifan; Dai, Qingqing; Li, Yuan; Chu, Lan

    2016-03-22

    This is an update of the Cochrane review "Teriflunomide for multiple sclerosis" (first published in The Cochrane Library 2012, Issue 12).Multiple sclerosis (MS) is a chronic immune-mediated disease of the central nervous system. It is clinically characterized by recurrent relapses or progression, or both, often leading to severe neurological disability and a serious decline in quality of life. Disease-modifying therapies (DMTs) for MS aim to prevent occurrence of relapses and disability progression. Teriflunomide is a pyrimidine synthesis inhibitor approved by both the US Food and Drug Administration (FDA) and the European Medicines Agency (EMA) as a DMT for adults with relapsing-remitting MS (RRMS). To assess the absolute and comparative effectiveness and safety of teriflunomide as monotherapy or combination therapy versus placebo or other disease-modifying drugs (DMDs) (interferon beta (IFNβ), glatiramer acetate, natalizumab, mitoxantrone, fingolimod, dimethyl fumarate, alemtuzumab) for modifying the disease course in people with MS. We searched the Cochrane Multiple Sclerosis and Rare Diseases of the CNS Group Specialised Trials Register (30 September 2015). We checked reference lists of published reviews and retrieved articles and searched reports (2004 to September 2015) from the MS societies in Europe and America. We also communicated with investigators participating in trials of teriflunomide and the pharmaceutical company, Sanofi-Aventis. We included randomized, controlled, parallel-group clinical trials with a length of follow-up of one year or greater evaluating teriflunomide, as monotherapy or combination therapy, versus placebo or other approved DMDs for people with MS without restrictions regarding dose, administration frequency and duration of treatment. We used the standard methodological procedures of Cochrane. Two review authors independently assessed trial quality and extracted data. Disagreements were discussed and resolved by consensus among

  7. Amyotrophic lateral sclerosis

    Directory of Open Access Journals (Sweden)

    Leigh P Nigel

    2009-02-01

    Full Text Available Abstract Amyotrophic lateral sclerosis (ALS is a neurodegenerative disease characterised by progressive muscular paralysis reflecting degeneration of motor neurones in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Incidence (average 1.89 per 100,000/year and prevalence (average 5.2 per100,000 are relatively uniform in Western countries, although foci of higher frequency occur in the Western Pacific. The mean age of onset for sporadic ALS is about 60 years. Overall, there is a slight male prevalence (M:F ratio~1.5:1. Approximately two thirds of patients with typical ALS have a spinal form of the disease (limb onset and present with symptoms related to focal muscle weakness and wasting, where the symptoms may start either distally or proximally in the upper and lower limbs. Gradually, spasticity may develop in the weakened atrophic limbs, affecting manual dexterity and gait. Patients with bulbar onset ALS usually present with dysarthria and dysphagia for solid or liquids, and limbs symptoms can develop almost simultaneously with bulbar symptoms, and in the vast majority of cases will occur within 1–2 years. Paralysis is progressive and leads to death due to respiratory failure within 2–3 years for bulbar onset cases and 3–5 years for limb onset ALS cases. Most ALS cases are sporadic but 5–10% of cases are familial, and of these 20% have a mutation of the SOD1 gene and about 2–5% have mutations of the TARDBP (TDP-43 gene. Two percent of apparently sporadic patients have SOD1 mutations, and TARDBP mutations also occur in sporadic cases. The diagnosis is based on clinical history, examination, electromyography, and exclusion of 'ALS-mimics' (e.g. cervical spondylotic myelopathies, multifocal motor neuropathy, Kennedy's disease by appropriate investigations. The pathological hallmarks comprise loss of motor neurones with intraneuronal ubiquitin-immunoreactive inclusions in upper motor neurones and TDP-43

  8. Comorbidity of Bipolar Disorder and Multiple Sclerosis: A Case Report

    OpenAIRE

    Necla Keskin; Soner Cakmak; Lut Tamam; Ahmet Turan Evlice

    2013-01-01

    Multiple sclerosis is a chronic demyelinating disease of a central nervous system. Neuropsychiatric symptoms are common in multiple sclerosis and bipolar disorder is one of the most common psychiatric disorders that coexist with multiple sclerosis. Manic episodes may be the first presenting symptom of multiple sclerosis as comorbid pathology or as an adverse effect of pharmacotherapies used in multiple sclerosis. The comorbidity of bipolar disorder and multiple sclerosis is well-proven but it...

  9. Does vagotomy protect against multiple sclerosis?

    Science.gov (United States)

    Sundbøll, Jens; Horváth-Puhó, Erzsébet; Adelborg, Kasper; Svensson, Elisabeth

    2017-07-01

    To examine the association between vagotomy and multiple sclerosis. We conducted a matched cohort study of all patients who underwent truncal or super-selective vagotomy and a comparison cohort, by linking Danish population-based medical registries (1977-1995). Hazard ratios (HRs) for multiple sclerosis, adjusting for potential confounders were computed by means of Cox regression analysis. Median age of multiple sclerosis onset corresponded to late onset multiple sclerosis. No association with multiple sclerosis was observed for truncal vagotomy (0-37 year adjusted HR=0.91, 95% confidence interval [CI]: 0.48-1.74) or super-selective vagotomy (0-37 year adjusted HR=1.28, 95% CI: 0.79-2.09) compared with the general population. We found no association between vagotomy and later risk of late onset multiple sclerosis. Copyright © 2017 Elsevier B.V. All rights reserved.

  10. Amyotrophic Lateral Sclerosis and Multiple Sclerosis Overlap: A Case Report

    Directory of Open Access Journals (Sweden)

    Francesca Trojsi

    2012-01-01

    Full Text Available The concurrence of amyotrophic lateral sclerosis (ALS and multiple sclerosis (MS is extremely rare. We reported the case of a 33-year-old woman with a past history of paresthesias at the right hand, who developed progressive quadriparesis with muscular atrophy of limbs and, finally, bulbar signs and dyspnea. Clinical and neurophysiologic investigations revealed upper and lower motor neuron signs in the bulbar region and extremities, suggesting the diagnosis of ALS. Moreover, magnetic resonance imaging (MRI and cerebrospinal fluid (CSF analysis demonstrated 3 periventricular and juxtacortical lesions, hyperintense in T2 and FLAIR sequences, and 3 liquoral immunoglobulin G (IgG oligoclonal bands, consistent with diagnosis of primary progressive MS (PPMS. This unusual overlap of ALS and MS leads to the discussion of a hypothetical common pathological process of immunological dysfunction in these two disorders, although the role of immune response in ALS remains ambivalent and unclear.

  11. Acoustic reflex patterns in amyotrophic lateral sclerosis.

    Science.gov (United States)

    Canale, Andrea; Albera, Roberto; Lacilla, Michelangelo; Canosa, Antonio; Albera, Andrea; Sacco, Francesca; Chiò, Adriano; Calvo, Andrea

    2017-02-01

    The aim of the study is to investigate acoustic reflex testing in amyotrophic lateral sclerosis patients. Amplitude, latency, and rise time of stapedial reflex were recorded for 500 and 1000 Hz contralateral stimulus. Statistical analysis was performed by the Wilcoxon test and the level of significance was set at 5 %. Fifty-one amyotrophic lateral sclerosis patients and ten sex- and age-matched control subjects were studied. Patients were further divided in two groups: amyotrophic lateral sclerosis-bulbar (38 cases, with bulbar signs at evaluation) and amyotrophic lateral sclerosis-spinal (13 cases, without bulbar signs at evaluation). Stapedial reflex was present in all patients. There was a statistically significant difference in the mean amplitude, latency, and rise time between the amyotrophic lateral sclerosis patients as compared with the controls. Amplitude was lower in both the amyotrophic lateral sclerosis-bulbar and the amyotrophic lateral sclerosis-spinal patients than in the controls (p amyotrophic lateral sclerosis cases with bulbar signs and, moreover, suggesting a possible subclinical involvement of the stapedial motor neuron even in amyotrophic lateral sclerosis-spinal patients. Amplitude and rise time seem to be good sensitive parameters for investigating subclinical bulbar involvement.

  12. [SCLEROSIS: LOCAL AND GENERAL PATTERNS OF DEVELOPMENT].

    Science.gov (United States)

    Kats, Ya A; Parkhonyuk, E V

    2015-01-01

    Sclerosis is a final substrate and outcome of structural lesions of different organs and tissues in various pathological conditions, such as hypertensive disease, coronaty heart disease, chronic obstructive pulmonary disease, systemic lupus erythematosus, rheumatoid arthritis, systemic scleroderma, etc. Not infrequently it as a determinant of severity and unfavourable outcome of the disease. Elucidation of general patterns of the development of sclerosis requires an integrated approach to the systemic analysis of clinical, genetic, biochemical, and morphological characteristics whereas a local analysis reveals peculiarities of formation of sclerosis in individual patients. Such combination permits to use methods of predictive-preventive personified medicine for planning the treatment of sclerosis.

  13. Sclerosis: Implications for Interhemispheric Communication

    Directory of Open Access Journals (Sweden)

    A. Lunardelli

    2014-01-01

    Full Text Available We report a case of a 47-year-old woman with 35-year history of multiple sclerosis, who showed alien hand signs, a rare behavioural disorder that involves unilateral goal-directed movements that are contrary to the individual's intention. Alien hand syndrome has been described in multiple sclerosis (MS only occasionally and is generally suggestive of callosal disconnection. The patient presented also with bilateral limb apraxia and left hand agraphia, raising the possibility of cortical dysfunction or disconnection, in addition to corpus callosum and white matter involvement. Her specific pattern of symptoms supports the role of the corpus callosum in interhemispheric communication for complex as well as fine motor activities and may indicate that it can serve as both an inhibitory and excitatory function depending on task demands.

  14. Multiple sclerosis - New treatment modalities

    Directory of Open Access Journals (Sweden)

    Rocco Totaro

    2015-01-01

    Full Text Available Ever since the introduction of the first disease modifying therapies, the concept of multiple sclerosis treatment algorithms developed ceaselessly. The increasing number of available drugs is paralleled by impelling issue of ensuring the most appropriate treatment to the right patient at the right time. The purpose of this review is to describe novel agents recently approved for multiple sclerosis treatment, namely teriflunomide, alemtuzumab and dimethylfumarate, focusing on mechanism of action, efficacy data in experimental setting, safety and tolerability. The place in therapy of newer treatment implies careful balancing of risk-benefit profile as well as accurate patient selection. Hence the widening of therapeutic arsenal provides greater opportunity for personalized therapy but also entails a complex trade-off between efficacy, tolerability, safety and eventually patient preference.

  15. Multiple sclerosis and herpesvirus interaction

    Directory of Open Access Journals (Sweden)

    Guilherme Sciascia do Olival

    2013-09-01

    Full Text Available Multiple sclerosis is the most common autoimmune inflammatory demyelinating disease of the central nervous system, and its etiology is believed to have both genetic and environmental components. Several viruses have already been implicated as triggers and there are several studies that implicate members of the Herpesviridae family in the pathogenesis of MS. The most important characteristic of these viruses is that they have periods of latency and exacerbations within their biological sanctuary, the central nervous system. The Epstein-Barr, cytomegalovirus, human herpesvirus 6 and human herpesvirus 7 viruses are the members that are most studied as being possible triggers of multiple sclerosis. According to evidence in the literature, the herpesvirus family is strongly involved in the pathogenesis of this disease, but it is unlikely that they are the only component responsible for its development. There are probably multiple triggers and more studies are necessary to investigate and define these interactions.

  16. Multiple Sclerosis Epidemiology in Europe.

    Science.gov (United States)

    Bezzini, Daiana; Battaglia, Mario A

    2017-01-01

    Multiple sclerosis is characterized by a non-homogeneous distribution around the world. Some authors in past described a latitude gradient, with increasing risk from the equator to North and South Poles, but this theory is still controversial. Regarding Europe, there are many articles in the literature concerning the epidemiology of this disease but, unfortunately, they are not always comparable due to different methodologies, they do not cover all countries in the continent, and most of them reported data of small areas and rarely at a national level. In 2012 there were 20 national registries that could help to describe the epidemiology of the disease and, in addition, there is an European Register for Multiple Sclerosis that collect data from already existing national or regional MS registries and databases. Another valid alternative to obtain epidemiological data, also at national level, in a routinely and cost-saving way is through administrative data that are of increasing interest in the last years.

  17. Tuberous sclerosis complex; Tuberoese Sklerose

    Energy Technology Data Exchange (ETDEWEB)

    Yilmaz, U. [Universitaetsklinikum des Saarlandes, Klinik fuer Diagnostische und Interventionelle Neuroradiologie, Homburg/Saar (Germany); Altmeyer, K. [Universitaetsklinikum des Saarlandes, Klinik fuer Diagnostische und Interventionelle Radiologie, Homburg/Saar (Germany); Meyer, S. [Universitaetsklinikum des Saarlandes, Klinik fuer Allgemeine Paediatrie und Neonatologie, Homburg/Saar (Germany); TSC-Zentrum Saarland (Germany)

    2013-12-15

    Tuberous sclerosis complex is an autosomal dominant disorder with variable affection of the central nervous system (CNS) and many other organ systems. Radiological features include various lesions of the brain as well as lesions of the lungs, kidneys and the heart. Imaging is important for the early detection of complications. This article provides an overview of the clinical features and therapy as well as the specific imaging of tuberous sclerosis complex. (orig.) [German] Die tuberoese Sklerose ist eine autosomal-dominante Erkrankung mit unterschiedlich ausgepraegter Beteiligung des zentralen Nervensystems (ZNS) und vieler anderer Organsysteme. Zu ihren radiologischen Merkmalen gehoeren verschiedene Veraenderungen des ZNS, der Lunge, der Nieren und des Herzens. Die Bildgebung ist wichtig fuer die Frueherkennung von Komplikationen. Dieser Artikel dient der Uebersicht ueber das klinische Bild, die Therapie sowie die spezifische Bildgebung der tuberoesen Sklerose. (orig.)

  18. Immunologic mechanisms of multiple sclerosis.

    Science.gov (United States)

    Frohman, Elliot M; Eagar, Todd; Monson, Nancy; Stuve, Olaf; Karandikar, Nitin

    2008-11-01

    Multiple sclerosis is widely recognized as the most commonly identified cause of progressive neurologic disability in young adults throughout the developed world. The disorder is clinically suspected when patients experience either acute attacks of neurologic compromise or instead are afflicted by a steadily progressive deterioration in functional capabilities. The pathophysiology of acute exacerbations is thought to be related to the development of inflammation and its consequences, within strategic and often discrete central nervous system tract systems. Although a myriad of hypotheses have been formulated to explain the underpinnings of the mechanisms that contribute to both the predilection and triggering of the multiphasic inflammatory events that personify multiple sclerosis, much remains to be done to understand fully the specific set and sequence of events that produce the disease and its cardinal features.

  19. [Current description of multiple sclerosis].

    Science.gov (United States)

    Río, Jordi; Montalbán, Xavier

    2014-12-01

    Multiple sclerosis is a multifocal demyelinating disease leading to progressive neurodegeneration caused by an autoimmune response in genetically predisposed individuals. In the last few years, the knowledge and management of this disease has been revolutionized by a series of findings. The present article reviews pathological features of the disease, in which cortical involvement is increasingly implicated, and aspects related to novel pathogenic mechanisms, such as the role of the microbiota in the genesis of multiple sclerosis, as well as recent contributions from the fields of epidemiology and genetics. Also reviewed are the latest diagnostic criteria, which currently allow a much earlier diagnosis, with clear therapeutic implications. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  20. Fructose Malabsorption in Systemic Sclerosis

    OpenAIRE

    Marie, Isabelle; Leroi, Anne-Marie; Gourcerol, Guillaume; Levesque, Herv?; M?nard, Jean-Fran?ois; Ducrotte, Philippe

    2015-01-01

    Abstract The deleterious effect of fructose, which is increasingly incorporated in many beverages, dairy products, and processed foods, has been described; fructose malabsorption has thus been reported in up to 2.4% of healthy subjects, leading to digestive clinical symptoms (eg, pain, distension, diarrhea). Because digestive involvement is frequent in patients with systemic sclerosis (SSc), we hypothesized that fructose malabsorption could be responsible for intestinal manifestations in thes...

  1. Primary-progressive multiple sclerosis.

    Science.gov (United States)

    Miller, David H; Leary, Siobhan M

    2007-10-01

    About 10-15% of patients with multiple sclerosis (MS) present with gradually increasing neurological disability, a disorder known as primary-progressive multiple sclerosis (PPMS). Compared with relapse-onset multiple sclerosis, people with PPMS are older at onset and a higher proportion are men. Inflammatory white-matter lesions are less evident but diffuse axonal loss and microglial activation are seen in healthy-looking white matter, in addition to cortical demyelination, and quantitative MRI shows atrophy and intrinsic abnormalities in the grey matter and the white matter. Spinal cord atrophy corresponds to the usual clinical presentation of progressive spastic paraplegia. Although neuroaxonal degeneration seems to underlie PPMS, the pathogenesis and the extent to which immune-mediated mechanisms operate is unclear. MRI of the brain and spinal cord, and examination of the CSF, are important investigations for diagnosis; conventional immunomodulatory therapies, such as interferon beta and glatiramer acetate, are ineffective. Future research should focus on the clarification of the mechanisms of axonal loss, improvements to the design of clinical trials, and the development of effective neuroprotective treatments.

  2. Lactose malabsorption in systemic sclerosis.

    Science.gov (United States)

    Marie, I; Leroi, A-M; Gourcerol, G; Levesque, H; Menard, J-F; Ducrotte, P

    2016-11-01

    There are no studies on systemic sclerosis (SSc) assessing the relationship between food intake, especially lactose, and gastrointestinal dysfunction. To determine the prevalence of lactose malabsorption, using lactose breath test, in patients with SSc. To evaluate the correlation between lactose malabsorption and gastrointestinal involvement. To predict which SSc patients exhibit lactose malabsorption. Seventy-seven consecutive Caucasian patients with SSc and 20 control subjects underwent lactose breath test. All patients also completed a questionnaire on digestive symptoms, and a global symptom score (GSS) was calculated. The prevalence of lactose malabsorption was higher in SSc patients than in controls (44.3% vs. 10%; P = 0.004). We observed a marked correlation between the presence of lactose malabsorption and: higher values of GSS (P lactose malabsorption, the median value of GSS of digestive symptoms was lower after initiation of lactose-free diet (P lactose malabsorption often occurs in patients with systemic sclerosis. Furthermore, our findings highlight the fact that lactose breath test is a helpful, noninvasive method, by identifying the group of patients with systemic sclerosis with symptomatic lactose malabsorption that may benefit from a reduction in lactose intake. © 2016 John Wiley & Sons Ltd.

  3. Demyelination of subcortical nuclei in multiple sclerosis

    Science.gov (United States)

    Krutenkova, E.; Aitmagambetova, G.; Khodanovich, M.; Bowen, J.; Gangadharan, B.; Henson, L.; Mayadev, A.; Repovic, P.; Qian, P.; Yarnykh, V.

    2016-02-01

    Myelin containing in basal ganglia in multiple sclerosis patients was evaluated using new noninvasive quantitative MRI method fast whole brain macromolecular proton fraction mapping. Myelin level in globus pallidus and putamen significantly decreased in multiple sclerosis patients as compared with healthy control subjects but not in substantia nigra and caudate nucleus.

  4. Progressive System Sclerosis - A Case Report

    Directory of Open Access Journals (Sweden)

    Jyothi S Kumar

    2003-01-01

    Full Text Available Progressive systemic sclerosis is a disease that involves connective tissues and.blood vessels leading to fibrosis. The skin as well as internal organs are involved. A case of progressive systemic sclerosis is presented and review of literature concerning oral manifestations of this condition is presented.

  5. Tuberous sclerosis complex presenting as pulmonary ...

    African Journals Online (AJOL)

    Tuberous sclerosis complex (TSC) manifests predominantly as a neurocutaneous disorder. Lymphangioleiomyomatosis (LAM) is a rare pulmonary manifestation of TSC. Imaging evaluation plays an important role in the assessment of patients with tuberous sclerosis complex. In newly diagnosed patients, it helps not only to ...

  6. Reproduction and the risk of multiple sclerosis

    DEFF Research Database (Denmark)

    Magyari, Melinda; Koch-Henriksen, Nils Iørgen; Pfleger, Claudia Christina

    2013-01-01

    The incidence of multiple sclerosis (MS) in Denmark has doubled in women since 1970, whereas it has been almost unchanged in men.......The incidence of multiple sclerosis (MS) in Denmark has doubled in women since 1970, whereas it has been almost unchanged in men....

  7. New management algorithms in multiple sclerosis

    DEFF Research Database (Denmark)

    Sorensen, Per Soelberg

    2014-01-01

    complex. The purpose of the review has been to work out new management algorithms for treatment of relapsing-remitting multiple sclerosis including new oral therapies and therapeutic monoclonal antibodies. RECENT FINDINGS: Recent large placebo-controlled trials in relapsing-remitting multiple sclerosis...

  8. Demyelination versus remyelination in progressive multiple sclerosis

    DEFF Research Database (Denmark)

    Bramow, Stephan; Frischer, Josa M; Lassmann, Hans

    2010-01-01

    The causes of incomplete remyelination in progressive multiple sclerosis are unknown, as are the pathological correlates of the different clinical characteristics of patients with primary and secondary progressive disease. We analysed brains and spinal cords from 51 patients with progressive...... multiple sclerosis by planimetry. Thirteen patients with primary progressive disease were compared with 34 with secondary progressive disease. In patients with secondary progressive multiple sclerosis, we found larger brain plaques, more demyelination in total and higher brain loads of active demyelination...... compared with patients with primary progressive disease. In addition, the brain density of plaques with high-grade inflammation and active demyelination was highest in secondary progressive multiple sclerosis and remained ~18% higher than in primary progressive multiple sclerosis after adjustments...

  9. Localized Scleroderma, Systemic Sclerosis and Cardiovascular Risk

    DEFF Research Database (Denmark)

    Hesselvig, Jeanette Halskou; Kofoed, Kristian; Wu, Jashin J

    2018-01-01

    Recent findings indicate that patients with systemic sclerosis have an increased risk of cardiovascular disease. To determine whether patients with systemic sclerosis or localized scleroderma are at increased risk of cardiovascular disease, a cohort study of the entire Danish population aged ≥ 18......,962 patients with systemic sclerosis were identified and compared with 5,428,380 people in the reference population. In systemic sclerosis, the adjusted HR was 2.22 (95% confidence interval 1.99-2.48). No association was seen between patients with localized scleroderma and cardiovascular disease. In conclusion......, systemic sclerosis is a significant cardiovascular disease risk factor, while patients with localized scleroderma are not at increased risk of cardiovascular disease....

  10. Chromosomal radiosensitivity in patients with multiple sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Milenkova, Maria; Milanov, Ivan; Kmetska, Ksenia [III Neurological Clinic, University Hospital Saint Naum, Sofia (Bulgaria); Deleva, Sofia; Popova, Ljubomira; Hadjidekova, Valeria [Laboratory of Radiation Genetics, NCRRP, Sofia (Bulgaria); Groudeva, Violeta [Department of Diagnostic Imaging, University Hospital St. Ekaterina, Sofia (Bulgaria); Hadjidekova, Savina [Department of Medical Genetics, Medical University, Sofia (Bulgaria); Domínguez, Inmaculada, E-mail: idomin@us.es [Department of Cell Biology, Faculty of Biology, University of Seville, Avda. Reina Mercedes 6, 41012 (Spain)

    2013-09-15

    Highlights: • We studied radiosensitivity to in vitro γ-irradiated lymphocytes from MS patients. • Immunotherapy in RRMS patients reduced the yield of radiation induced MN. • The group of treated RRMS accounts for the low radiosensitivity in MS patients. • Spontaneous yield of MN was similar in treated and untreated RRMS patients. - Abstract: Multiple sclerosis is a clinically heterogeneous autoimmune disease leading to severe neurological disability. Although during the last years many disease-modifying agents as treatment options for multiple sclerosis have been made available, their mechanisms of action are still not fully determined. In the present study radiosensitivity in lymphocytes of patients with relapsing–remitting multiple sclerosis, secondary progressive multiple sclerosis and healthy controls was investigated. Whole blood cultures from multiple sclerosis patients and healthy controls were used to analyze the spontaneous and radiation-induced micronuclei in binucleated lymphocytes. A subgroup of patients with relapsing–remitting multiple sclerosis was treated with immunomodulatory agents, interferon β or glatiramer acetate. The secondary progressive multiple sclerosis patients group was not receiving any treatment. Our results reveal that the basal DNA damage was not different between relapsing–remitting and secondary progressive multiple sclerosis patients, and healthy controls. No differences between gamma-irradiation induced micronuclei frequencies in binucleated cells from relapsing–remitting and secondary progressive multiple sclerosis patients, and healthy controls were found either. Nevertheless, when we compared the radiation induced DNA damage in binucleated cells from healthy individuals with the whole group of patients, a reduction in the frequency of micronuclei was obtained in the patients group. Induced micronuclei yield was significantly lower in the irradiated samples from treated relapsing–remitting multiple

  11. Newer therapies for multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Alasdair Coles

    2015-01-01

    Full Text Available The newer immunotherapies for multiple sclerosis (fingolimod, natalizumab, dimethyl fumarate, teriflunomide, alemtuzumab offer advantages of efficacy or tolerability over the injectable therapies of the 1990s. But they also have greater risks. As further treatments emerge (daclizumab and ocrelizumab are likely to be licensed in the next two years, the physician needs to be able to place them within a complex landscape of drugs and a specific treatment strategy, which may be an "escalation" or "induction" approach. Whilst on treatment, neurologist and patient need to be vigilant to signs of disease breakthrough or adverse effects.

  12. Systematic imaging review: Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Aparna Katdare

    2015-01-01

    Full Text Available Multiple sclerosis (MS is a chronic, inflammatory disease of the central nervous system characterised by immune-mediated demyelination, and is a leading cause of neurological disability worldwide. It has a wide spectrum of clinical presentations which overlap with other neurological conditions many times. Further, the radiological array of findings in MS can also be confused for multiple other conditions, leading to the need to look for the more typical findings, and interpret these in close conjunction with the clinical picture including temporal evolution. This review aims to revisit the MRI findings in MS, including recent innovations in imaging, and to help distinguish MS from its mimics.

  13. [Biological treatment of multiple sclerosis

    DEFF Research Database (Denmark)

    Sorensen, P.S.; Sellebjerg, F.

    2008-01-01

    In 1996 interferon (IFN)beta was the first biopharmaceutical product to be approved for the treatment of relapsing-remitting multiple sclerosis (MS). In 2006 the more potent monoclonal antibody natalizumab was approved. Presently, a number of monoclonal antibodies are being studied, including...... alemtuzumab, daclizumab and rituximab, which have all shown promising results. However, the monoclonal antibodies generally have a less favourable safety profile and are more expensive than the currently used first-line therapies, IFNb and glatiramer acetate Udgivelsesdato: 2008/6/9...

  14. Symptomatic management in multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Pushkar Shah

    2015-01-01

    Full Text Available Multiple sclerosis (MS is the commonest cause of disability in young adults. While there is increasing choice and better treatments available for delaying disease progression, there are still, very few, effective symptomatic treatments. For many patients such as those with primary progressive MS (PPMS and those that inevitably become secondary progressive, symptom management is the only treatment available. MS related symptoms are complex, interrelated, and can be interdependent. It requires good understanding of the condition, a holistic multidisciplinary approach, and above all, patient education and empowerment.

  15. [Special cases of multiple sclerosis].

    Science.gov (United States)

    Mendibe Bilbao, Mar

    2014-12-01

    Multiple sclerosis is a chronic disease that usually occurs in young people and affects them for the rest of their lives. Patients and their families usually have a series of doubts and questions on everyday matters and all types of situations that occur during the distinct stages of life and which can influence the course of the disease. The aim of this review is to provide specific answers to these questions. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  16. Clinical Neurogenetics: Amyotrophic Lateral Sclerosis

    Science.gov (United States)

    Harms, Matthew B.; Baloh, Robert H.

    2013-01-01

    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease, about which our understanding is expanding rapidly as its genetic causes are uncovered. The pace of new gene discovery over the last 5 years has accelerated, providing new insights into the pathogenesis of disease and highlighting biological pathways for target for therapeutic development. This article reviews our current understanding of the heritability of ALS, provides an overview of each of the major ALS genes, highlighting their phenotypic characteristics and frequencies as a guide for clinicians evaluating patients with ALS. PMID:24176417

  17. Spasticity management in multiple sclerosis.

    Science.gov (United States)

    Hughes, Christina; Howard, Ileana M

    2013-11-01

    Spasticity is a prevalent and potentially disabling symptom common in individuals with multiple sclerosis. Adequate evaluation and management of spasticity requires a careful assessment of the patient's history to determine functional impact of spasticity and potential exacerbating factors, and physical examination to determine the extent of the condition and culpable muscles. A host of options for spasticity management are available: therapeutic exercise, physical modalities, complementary/alternative medicine interventions, oral medications, chemodenervation, and implantation of an intrathecal baclofen pump. Choice of treatment hinges on a combination of the extent of symptoms, patient preference, and availability of services. Copyright © 2013 Elsevier Inc. All rights reserved.

  18. Impaired neurosteroid synthesis in multiple sclerosis

    Science.gov (United States)

    Noorbakhsh, Farshid; Ellestad, Kristofor K.; Maingat, Ferdinand; Warren, Kenneth G.; Han, May H.; Steinman, Lawrence; Baker, Glen B.

    2011-01-01

    High-throughput technologies have led to advances in the recognition of disease pathways and their underlying mechanisms. To investigate the impact of micro-RNAs on the disease process in multiple sclerosis, a prototypic inflammatory neurological disorder, we examined cerebral white matter from patients with or without the disease by micro-RNA profiling, together with confirmatory reverse transcription–polymerase chain reaction analysis, immunoblotting and gas chromatography-mass spectrometry. These observations were verified using the in vivo multiple sclerosis model, experimental autoimmune encephalomyelitis. Brains of patients with or without multiple sclerosis demonstrated differential expression of multiple micro-RNAs, but expression of three neurosteroid synthesis enzyme-specific micro-RNAs (miR-338, miR-155 and miR-491) showed a bias towards induction in patients with multiple sclerosis (P micro-RNAs revealed suppression of enzyme transcript and protein levels in the white matter of patients with multiple sclerosis (P micro-RNA target knockdown experiments (P micro-RNAs by in situ hybridization in the brains of patients with or without multiple sclerosis. Levels of important neurosteroids, including allopregnanolone, were suppressed in the white matter of patients with multiple sclerosis (P micro-RNAs, miR-338 and miR-155, accompanied by diminished expression of neurosteroidogenic enzymes and allopregnanolone, was also observed in the brains of mice with experimental autoimmune encephalomyelitis (P < 0.05). Allopregnanolone treatment of the experimental autoimmune encephalomyelitis mouse model limited the associated neuropathology, including neuroinflammation, myelin and axonal injury and reduced neurobehavioral deficits (P < 0.05). These multi-platform studies point to impaired neurosteroidogenesis in both multiple sclerosis and experimental autoimmune encephalomyelitis. The findings also indicate that allopregnanolone and perhaps other neurosteroid

  19. The overactive bladder in multiple sclerosis.

    Science.gov (United States)

    Fingerman, J S; Finkelstein, L H

    2000-03-01

    Multiple sclerosis is a common neurologic disorder that often affects the genitourinary system. One of the most common symptoms of multiple sclerosis is the hyperactive bladder. These patients will have symptoms that may affect their lifestyle, such as urinary incontinence, urgency, and frequency. They may also suffer from debilitating urinary tract symptoms, such as frequent or recurrent urinary tract infections and also on occasion, damage to the upper urinary tract. Fortunately, the neurogenic bladder dysfunction associated with multiple sclerosis can be treated with a reasonable chance of success. With proper treatment, related symptoms may be brought under control, allowing the physician to concentrate on the more debilitating aspects of this disease.

  20. Registers of multiple sclerosis in Denmark

    DEFF Research Database (Denmark)

    Koch-Henriksen, N; Magyari, M; Laursen, B

    2015-01-01

    There are two nationwide population-based registers for multiple sclerosis (MS) in Denmark. The oldest register is The Danish Multiple Sclerosis Registry (DMSR), which is an epidemiological register for estimation of prevalence and incidence of MS and survival, and for identifying exposures earlier...... between a number of different environmental exposures in the past and the subsequent risk of MS. Some of these studies have been able to exonerate suspected risk factors. The other register, the nationwide Danish Multiple Sclerosis Treatment Register, is a follow-up register for all patients who have...

  1. Emerging therapies for multiple sclerosis.

    Science.gov (United States)

    Muraro, Paolo A; Bielekova, Bibiana

    2007-10-01

    This review examines the mode of action, safety profile and clinical efficacy of some of the most promising new therapeutic strategies for multiple sclerosis. Autologous hematopoietic stem cell transplantation can regenerate a new and tolerant immune system and is a potentially effective rescue therapy in a subset of patients with aggressive forms of MS refractory to approved immunomodulatory and immunosuppressive agents. High-dose cyclophosphamide without stem cell support is suggested to induce prolonged remissions through similar immunological mechanisms with less toxicity. Fingolimod (FTY720) is a novel oral immunomodulating agent that acts through preventing lymphocyte recirculation from lymphoid organs. Monoclonal antibody therapy has provided scientists and clinicians the opportunity to rationally direct the therapeutic intervention against specific molecules. Targeting molecules of the immune system such as CD52 (alemtuzumab), CD25 (daclizumab), VLA-4 (natalizumab) and CD20 (rituximab) have resulted in potent immunomodulatory effects through sometimes unpredicted mechanisms. The potential of immunoglobulins to induce remyelination in the CNS is being investigated in an attempt to develop therapies promoting tissue repair and functional recovery. The evidence supporting the potential of these emerging immunotherapies suggests that strong progress is being made in the development of effective cures for multiple sclerosis.

  2. [Dimethyl Fumarate in Multiple Sclerosis].

    Science.gov (United States)

    Tanaka, Masami; Shimizu, Yuko

    2017-09-01

    At the end of 2016, dimethyl fumarate (DMF) was approved as the sixth disease-modifying drug for multiple sclerosis by the Pharmaceuticals and Medical Devices Agency of Japan. Two randomized, placebo-controlled, phase III studies (DEFINE and CONFIRM) showed beneficial effects in patients in Western countries, with relapsing-remitting multiple sclerosis (RRMS). Some of the benefits included a decreased annual relapse rate, inhibition of disease activity (shown using brain magnetic resonance imaging), and a decreased proportion of patients with confirmed disease progression. The APEX study, which included Japanese patients with RRMS, also showed similar results, but reported some adverse effects. Flushing and gastrointestinal events (e.g., nausea, vomiting, abdominal pain, and diarrhea) occurring within 1 month of the initiation of DMF treatment are major causes of discontinuation of the drug. The most serious adverse event is progressive multifocal leukoencephalopathy (PML), which was reported in four patients with MS treated with DMF, worldwide. Grade 3 lymphopenia (less than 500/mm3) due to apoptosis occurs in some DMF-treated patients with MS and is more prevalent among older patients. A reduction in CD8+ T cells is more pronounced than that in CD4+ T cells. Patients with grade 3 lymphopenia, aged more than 50 years, are at a risk for PML development. Further studies are needed to determine the appropriate final dose and an acceptable dose-escalation method for DMF treatment, to prevent or decrease adverse effects in Japanese patients with MS.

  3. Osteopathia striata with cranial sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Gay, B.B. [Emory Univ., Atlanta, GA (United States). Dept. of Radiology; Elsas, L.J. [Emory Univ., Atlanta, GA (United States). Dept. of Pediatrics; Wyly, J.B. [Emory Univ., Atlanta, GA (United States). Dept. of Radiology; Pasquali, M. [Emory Univ., Atlanta, GA (United States). Dept. of Pediatrics

    1994-03-01

    Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation. We will review the clinical and radiologic findings in a new patient from birth to 20 years; this is believed to be the thirty-fifth patient reported. OS-CS is 2.5 times more common in females and occurs as an autosomal dominant condition or a sporadic dominant mutation with patients presenting for evaluation from the newborn period to the fifth decade. Skeletal abnormalities are distinctive including sclerosis of the skull base and calvarium, linear striated densities in the long bones and pelvis, and poor development of the mastoid and sinus air cells. Radionuclide bone scans with SPECT indicated in our patient increased bone turnover which was supported by biochemical findings of increased pyridinoline excretion. The major complications are due to constriction of essential foramina at the skull base. The condition is not life-threatening but can produce disability. (orig.)

  4. Cognitive Impairment in Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Farnaz Etesam

    2014-01-01

    Full Text Available Cognitive impairment can emerge in the earliest phases of multiple sclerosis. It strongly impacts different aspects of Multiple Sclerosis (MS patients' lives, like employment, social relationships and the overall quality of life; thus, its on-time recognition and treatment is mandatory. This paper discusses issues, diagnostic methods and treatment options for cognitive dysfunctions in MS. This paper is a descriptive review of the related studies in the recent 10 years, performing a keyword search in the main databases4T. Cognitive impairment mostly involves aspects of information processing, memory and executive functioning in MS. Neuropsychological tests like MACFIMS and BRB-N are recommended for its assessment. Still, there is no fully efficient treatment for cognitive impairment. Researchers have shown some positive effects, using disease-modifying therapies and cognitive rehabilitation. Depression, pain, fatigue and other factors influencing cognitive functions must be paid attention to4T. Recognizing cognitive impairment as a major symptom for MS, makes studying this subject one of the priorities in dealing with the disease. Therefore, a consecutive research for identification and management of this part of quality of life in MS patients is obligatory4T.4T

  5. NEUROREHABILITATION STRATEGIES IN MULTIPLE SCLEROSIS

    Directory of Open Access Journals (Sweden)

    Ioana Stanescu

    2015-12-01

    Full Text Available Multiple sclerosis (MS is a chronic progressive disease which is one of the leading causes of handicap in young subjects. Despite the availability of advanced disease-modifying and symptomatic therapies, there is still a need for complex rehabilitation interventions in order to compensate functional deficits, to minimize limitations in activity, to increase independence and quality of life of MS patients. Individualized programs elaborated by a multidisciplinary team of experts are the key to success of rehabilitation. Treatment should be adapted depending on: the individual patient's needs, demands of their surrounding environment, type and degree of disability, and treatment goals. The main objective of rehabilitation is, therefore, to ease the burden of symptoms by improving self-performance and independence. The methods used are: function conservation , optimization of restant capacities, compensation of functional deficits and prevention of complications. Benefits of rehabilitation interventions are generally higher in earlier phases of MS. Inpatient and outpatient multidisciplinary rehabilitation has been shown to be beneficial in improving disability. Outcome measures applied for patients with MS include: the EDSS score, the Barthel index and the FIM (Functional Independence Measure. The coexistence of physical and cognitive impairments, together with the imprevisible evolution of the disease makes MS rehabilitation very challenging. Rehabilitation is a valuable tool in the overall management of MS patients, the improvements obtained after treatment sessions often outlast the treatment period by several months. Neurorehabilitation methods are important tools in developing complex management strategies for patients with multiple sclerosis.

  6. Comorbidity of Bipolar Disorder and Multiple Sclerosis: A Case Report

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2013-08-01

    Full Text Available Multiple sclerosis is a chronic demyelinating disease of a central nervous system. Neuropsychiatric symptoms are common in multiple sclerosis and bipolar disorder is one of the most common psychiatric disorders that coexist with multiple sclerosis. Manic episodes may be the first presenting symptom of multiple sclerosis as comorbid pathology or as an adverse effect of pharmacotherapies used in multiple sclerosis. The comorbidity of bipolar disorder and multiple sclerosis is well-proven but its etiology is not known and investigated accurately. Recent studies support a common genetic susceptibility. Management of bipolar disorder in multiple sclerosis is based on evidence provided by case reports and treatment should be individualized. In this report, the association between bipolar disorder and multiple sclerosis, epidemiology, ethiology and treatment is discussed through a case had diagnosed as multiple sclerosis and had a manic episode with psychotic features. [Cukurova Med J 2013; 38(4.000: 832-836

  7. Identification of potential biomarkers in Multiple Sclerosis

    NARCIS (Netherlands)

    V. Singh (Vaibhav)

    2015-01-01

    markdownabstractAbstract Multiple sclerosis (MScl) is an inflammatory, autoimmune, demyelinating disease of the central nervous system (CNS). Thesis describes the identification of potential MScl biomarker research, with emphasis on distinguishing subtypes, first event of CNS demyelination in

  8. Defining the clinical course of multiple sclerosis

    DEFF Research Database (Denmark)

    Lublin, Fred D; Reingold, Stephen C; Cohen, Jeffrey A

    2014-01-01

    Accurate clinical course descriptions (phenotypes) of multiple sclerosis (MS) are important for communication, prognostication, design and recruitment of clinical trials, and treatment decision-making. Standardized descriptions published in 1996 based on a survey of international MS experts provi...

  9. Disseminated Encephalomyelitis and Multiple Sclerosis Differentiation

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-09-01

    Full Text Available The distinguishing features of acute disseminated encephalomyelitis (DEM and multiple sclerosis (MS are reviewed by researchers at Harvard Medical School, Boston, MA, and University of Zagreb, Croatia.

  10. Plasma homocysteine levels in multiple sclerosis

    NARCIS (Netherlands)

    Ramsaransing, G S M; Fokkema, M R; Teelken, A; Arutjunyan, A V; Koch, M; De Keyser, J

    Background: There is evidence that homocysteine contributes to various neurodegenerative disorders, and elevated plasma homocysteine levels have been observed in patients with multiple sclerosis (MS). Objective: To investigate if and why plasma homocysteine levels are increased in MS, and whether

  11. Suicide among Danes with multiple sclerosis

    DEFF Research Database (Denmark)

    Brønnum-Hansen, H; Stenager, E; Nylev Stenager, E

    2005-01-01

    OBJECTIVE: To compare the suicide risk among Danish citizens with multiple sclerosis with that of the general population, and to evaluate changes over 45 years. METHODS: The study was based on linkage of the Danish Multiple Sclerosis Registry to the Cause of Death Registry. It comprised all 10......,174 persons in whom multiple sclerosis was diagnosed in the period 1953 to 1996. The end of follow up was 1 January 1999. Standardised mortality ratios (SMRs) were calculated for various times after diagnosis and for age and calendar period of diagnosis. RESULTS: In all, 115 persons (63 men, 52 women) had...... taken their own lives, whereas the expected number of suicides was 54.2 (29.1 men, 25.1 women). Thus the suicide risk among persons with multiple sclerosis was more than twice that of the general population (SMR = 2.12). The increased risk was particularly high during the first year after diagnosis (SMR...

  12. Epidemiology in multiple sclerosis: a pilgrim's progress.

    Science.gov (United States)

    Kurtzke, John F

    2013-09-01

    There was more neurology taught under Harold G. Wolff at Cornell University Medical College in New York than perhaps anywhere else in the country when I attended from 1948 to 1952. I took my residency at the Veterans Administration Hospital in the Bronx, New York, a teaching hospital of Cornell, with Wolff as my Director of Training. While a resident, we thought we had found a treatment for multiple sclerosis. To test our conclusion, the first Class 1 treatment trial ever conducted for multiple sclerosis was performed. This showed no effect, but the participants began investigating multiple sclerosis among the 16 million persons at prime age for symptom onset who had served in the military in World War II. This led me to study its epidemiology worldwide, beginning with a detailed review of all published population-based estimates of frequency. Among these were nationwide surveys from Sweden, Denmark, Switzerland and later Norway and Finland, which showed in each country a concentration of the significantly high regions into contiguous areas forming a single 'focus' in each land, maximal in Denmark under the age of 15 years. The primary locus of high frequency multiple sclerosis seemed to be in the south-central inland lake region of Sweden, with spread to its contiguous neighbours. These concentrations in time and space indicated that multiple sclerosis was a disease probably acquired in early adolescence. Migration studies supported this: moves from high to low showed retention of birthplace risk only for those aged >15 years, whereas opposite moves indicated susceptibility limited to some 11-45 year olds. Epidemics of multiple sclerosis would suggest the disease is not only acquired but also infectious. If an infectious origin were true, transmission would have to occur before clinical onset, and would have to involve a much greater number of subjects than clinically involved. I believe there have been epidemics in Iceland, Shetland-Orkney and the Faroe Islands

  13. Teriflunomide in relapsing multiple sclerosis: therapeutic utility

    OpenAIRE

    Freedman, Mark S

    2013-01-01

    Teriflunomide is an oral, once-daily disease-modifying therapy (DMT) approved in the USA, Australia, and Argentina for the treatment of relapsing forms of multiple sclerosis (RMS). Teriflunomide reversibly limits the expansion of activated T and B cells associated with the inflammatory process purportedly involved in multiple sclerosis pathogenesis, while preserving lymphocytes for routine immune surveillance. In an extensive clinical development program, teriflunomide demonstrated consistent...

  14. Reproductive history and risk of multiple sclerosis

    DEFF Research Database (Denmark)

    Nielsen, Nete Munk; Jørgensen, Kristian Tore; Stenager, Egon

    2011-01-01

    It has been suggested that reproductive factors may be involved in the etiology of multiple sclerosis (MS). We studied associations of reproductive history with MS risk in a population-based setting.......It has been suggested that reproductive factors may be involved in the etiology of multiple sclerosis (MS). We studied associations of reproductive history with MS risk in a population-based setting....

  15. Anti-Integrin Therapy for Multiple Sclerosis

    OpenAIRE

    Eiji Kawamoto; Susumu Nakahashi; Takayuki Okamoto; Hiroshi Imai; Motomu Shimaoka

    2012-01-01

    Integrins are the foremost family of cell adhesion molecules that regulate immune cell trafficking in health and diseases. Integrin alpha4 mediates organ-specific migration of immune cells to the inflamed brain, thereby playing the critical role in the pathogenesis of multiple sclerosis. Anti-alpha4 integrin therapy aiming to block infiltration of autoreactive lymphocytes to the inflamed brain has been validated in several clinical trials for the treatment of multiple sclerosis. This paper pr...

  16. Understanding the Etiology of Tuberous Sclerosis Complex

    Science.gov (United States)

    2012-07-01

    of life as infantile spasms that are unresponsive to conventional anti-epileptic drug therapies (Curatolo et al., 2001; Holmes and Stafstrom, 2007...Tsc1fl/fl mice were purchased from Jackson Laboratories. The Tsc1wt/mut mice were obtained from the National Cancer Institute. Nestin-CreERT2 mice... Infantile spasms in tuberous sclerosis complex. Brain Dev 23:502-507. DiMario FJ, Jr. (2004) Brain abnormalities in tuberous sclerosis complex. J

  17. Balo`s concentric sclerosis: MRI

    Energy Technology Data Exchange (ETDEWEB)

    Chen, C.J. [Department of Radiology, Chang Gung Memorial Hospital, 199 Tung Hwa North Road, Taipei (Taiwan, Province of China); Ro, L.S. [Department of Neurology, Chang Gung Memorial Hospital, Taipei (Taiwan, Province of China); Wang, L.J. [Department of Radiology, Chang Gung Memorial Hospital, 199 Tung Hwa North Road, Taipei (Taiwan, Province of China); Wong, Y.C. [Department of Radiology, Chang Gung Memorial Hospital, 199 Tung Hwa North Road, Taipei (Taiwan, Province of China)

    1996-05-01

    We report a case of Balo`s concentric sclerosis. In the past, the diagnosis was usually made post mortem. In this case, we found that CT demonstrated only low-density lesions, but not their concentric pattern. However, MRI showed a striking feature, reminiscent of histopathology of Balo`s concentric sclerosis, and played an important role in antemortem diagnosis of this rare demyelinating disease. (orig.). With 3 figs.

  18. Cavernous angioma associated with ipsilateral hippocampal sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Okujava, M. [Institute of Radiology and Interventional Diagnostics, Tbilisi (Georgia); Ebner, A.; Schmitt, J.; Woermann, F.G. [Bethel Epilepsy Centre, Mara Hospital, Bielefeld (Germany)

    2002-07-01

    We report two cases with extratemporal cavernous angioma (CA) and coexisting ipsilateral hippocampal sclerosis. Classically dual pathology is defined as the association of hippocampal sclerosis with an extrahippocampal lesion. Subtle changes in hippocampus might be overlooked in the presence of an unequivocal extrahippocampal abnormality. Seizure outcome after epilepsy surgery in cases with dual pathology is less favourable if only one of the lesions is removed. Dual pathology must always be considered in diagnostic imaging of patients with intractable epilepsy and CA. (orig.)

  19. SOME NEUROCHEMICAL DISTURBANCES IN MULTIPLE SCLEROSIS

    OpenAIRE

    Vladimir V. Markelov; Maxim V. Trushin

    2006-01-01

    ABSTRACTThe data presented in this manuscript suggest a pivotal role of the central nervous system (CNS) in the regulation of immune status. We describe here that some neurochemical disturbances may provoke development of various diseases including multiple sclerosis. Some theoretic and practical backgrounds, how to improve the multiple sclerosis sufferers and patients with other autoimmune disorders, are also given.RESUMENLos datos que presentamos en este manuscrito, sugieren un papel guia d...

  20. Gait Characteristics in Adolescents With Multiple Sclerosis.

    Science.gov (United States)

    Kalron, Alon; Frid, Lior; Menascu, Shay

    2017-03-01

    Multiple sclerosis is a progressive autoimmune disease of the central nervous system. A presentation of multiple sclerosis before age18 years has traditionally been thought to be rare. However, during the past decade, more cases have been reported. We examined gait characteristics in 24 adolescents with multiple sclerosis (12 girls, 12 boys). Mean disease duration was 20.4 (S.D. = 24.9) months and mean age was 15.5 (S.D. = 1.1) years. The mean expanded disability status scale score was 1.7 (S.D. = 0.7) indicating minimal disability. Outcomes were compared with gait and the gait variability index value of healthy age-matched adolescents. Adolescents with multiple sclerosis walked slower with a wider base of support compared with age-matched healthy control subjects. Moreover, the gait variability index was lower in the multiple sclerosis group compared with the values in the healthy adolescents: 85.4 (S.D. = 8.1) versus 96.5 (S.D. = 7.4). We present gait parameters of adolescents with multiple sclerosis. From a clinical standpoint, our data could improve management of walking dysfunction in this relatively young population. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Recent developments in multiple sclerosis therapeutics

    Directory of Open Access Journals (Sweden)

    Bourdette Dennis

    2009-12-01

    Full Text Available Abstract Multiple sclerosis, the most common neurologic disorder of young adults, is traditionally considered to be an inflammatory, autoimmune, demyelinating disease of the central nervous system. Based on this understanding, the initial therapeutic strategies were directed at immune modulation and inflammation control. These approaches, including high-dose corticosteroids for acute relapses and long-term use of parenteral interferon-β, glatiramer acetate or natalizumab for disease modification, are at best moderately effective. Growing evidence supports that, while an inflammatory pathology characterizes the early relapsing stage of multiple sclerosis, neurodegenerative pathology dominates the later progressive stage of the disease. Multiple sclerosis disease-modifying therapies currently in development attempt to specifically target the underlying pathology at each stage of the disease, while avoiding frequent self-injection. These include a variety of oral medications and monoclonal antibodies to reduce inflammation in relapsing multiple sclerosis and agents intended to promote neuroprotection and neurorepair in progressive multiple sclerosis. Although newer therapies for relapsing MS have the potential to be more effective and easier to administer than current therapies, they also carry greater risks. Effective treatments for progressive multiple sclerosis are still being sought.

  2. Varied manifestations of tuberous sclerosis

    Directory of Open Access Journals (Sweden)

    Nikhil Gupta

    2015-01-01

    Full Text Available Tuberous sclerosis complex (TSC is a rare autosomal dominant disease. The prevalence of TSC is estimated to be 1 in 95,136 in general population and in those <6 years of age, it is 1 in 14,608. It is an autosomal dominant neurocutaenous disease and in about 80% of cases it is caused by a de novo mutation. The relationship between cardiac rhabdomyomas and TSC is well established. The cardiac rhabdomyomas may arise anywhere in the myocardium but are more commonly seen in the left ventricle. However, in our case an interventricular septal rhabdomyoma was seen. Angiomyolipomas (AMLs occur in up to 80% of patients with TSC. Bilateral renal AMLs were seen in our case. There was evidence of systemic involvement in form of lymphangiomyomatosis and subependymal hamartomas.

  3. Gait Variability and Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Michael J. Socie

    2013-01-01

    Full Text Available Gait variability, that is, fluctuations in movement during walking, is an indicator of walking function and has been associated with various adverse outcomes such as falls. In this paper, current research concerning gait variability in persons with multiple sclerosis (MS is discussed. It is well established that persons with MS have greater gait variability compared to age and gender matched controls without MS. The reasons for the increase in gait variability are not completely understood. Evidence indicates that disability level, assistive device use, attentional requirement, and fatigue are related to gait variability in persons with MS. Future research should address the time-evolving structure (i.e., temporal characteristics of gait variability, the clinical importance of gait variability, and underlying mechanisms that drive gait variability in individuals with MS.

  4. Vitamin D and multiple sclerosis.

    Science.gov (United States)

    Ho, Swui-Ling; Alappat, Lini; Awad, Atif B

    2012-01-01

    Multiple sclerosis (MS) is an inflammatory disease of the central nervous system and characterized by neurological and cognitive manifestations. The disease is more common in populations living in high altitudes with low sun exposure, women more than men, and certain ethnic backgrounds more than others. The etiology of MS is yet unknown, although several factors have been implicated in its development. These include genetic factors and environmental factors as well as dietary components and their interactions. Among the dietary components that have recently attracted the attention is vitamin D. This mini-review summarizes current knowledge on the potential use of vitamin D in the protection and treatment of MS. In addition, the mechanism(s) by which vitamin D plays a role in the development and/or protection from MS are discussed.

  5. Encapsulating peritoneal sclerosis: case report

    Directory of Open Access Journals (Sweden)

    Gabriel Caetano Pereira

    Full Text Available Abstract Patients with chronic kidney disease (CDK can develop several diseases caused by the renal replacement therapy. Here we report a rare complication of peritoneal dialysis, the encapsulating peritoneal sclerosis (EPS in which the peritoneal tissue is gradually replaced by fibrous tissue. The patient in question, after late loss of renal graft and conversion to peritoneal dialysis, evolved with multiple hospitalizations for spontaneous bacterial infections, in recent admission, he was diagnosed with sub-occlusive abdomen secondary to the EPS. Five days after, presented with intestinal obstruction requiring surgical approach by laparotomy, being performed with right colectomy, enterectomy, enteroraphy and ileostomy with drainage. The patient progressed well and follows on prednisone and tamoxifen-associated with intermittent hemodialysis.

  6. Autonomic Dysregulation in Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Alexandra Pintér

    2015-07-01

    Full Text Available Multiple sclerosis (MS is a chronic, progressive central neurological disease characterized by inflammation and demyelination. In patients with MS, dysregulation of the autonomic nervous system may present with various clinical symptoms including sweating abnormalities, urinary dysfunction, orthostatic dysregulation, gastrointestinal symptoms, and sexual dysfunction. These autonomic disturbances reduce the quality of life of affected patients and constitute a clinical challenge to the physician due to variability of clinical presentation and inconsistent data on diagnosis and treatment. Early diagnosis and initiation of individualized interdisciplinary and multimodal strategies is beneficial in the management of autonomic dysfunction in MS. This review summarizes the current literature on the most prevalent aspects of autonomic dysfunction in MS and provides reference to underlying pathophysiological mechanisms as well as means of diagnosis and treatment.

  7. Multiple sclerosis, a treatable disease.

    Science.gov (United States)

    Doshi, Anisha; Chataway, Jeremy

    2016-12-01

    This article reviews our current understanding and modern treatment of multiple sclerosis (MS). MS is a disabling condition resulting in devastating social and economic impacts. As MS can affect any part of the central nervous system, the presentation is often diverse; however, there are key features that can be useful in the clinic. We comment on the diagnostic criteria and review the main subtypes of MS, including clinically isolated syndrome, relapsing remitting MS, secondary progressive MS and primary progressive MS. Although the underlying aetiology of MS is still not known, we summarise those with most evidence of association. Finally, we aim to present treatment strategies for managing the acute relapse, disease-modifying therapies and MS symptoms. This review highlights that progressive MS is an area where there is currently a paucity of available disease-modifying treatments and this will be a major focus for future development. © Royal College of Physicians 2016. All rights reserved.

  8. [Renal involvement in systemic sclerosis].

    Science.gov (United States)

    Jara, Luis J; Barrera, Antonio

    2006-11-01

    Renal crisis is one of the most severe complications of systemic sclerosis, and its frequency is 10%, and it is characterized by malignant hypertension, hyperreninemia, azotemia, microangiopathic hemolytic anemia, and renal failure. In the pathogenesis of renal affection, the main mechanism is the endothelial damage (thickness of arterial vessels), decrease of blood flow and hyperplasia of the yuxtaglomerular apparatus as well as release of renina. Pathological changes of scleroderma kidney are similar to those observed in other forms of malignant hypertension. Renal crisis was considered as fatal complications, however it is now successfully treated with angiotensin- converting enzyme inhibitors. Copyright © 2006 Elsevier España S.L. Barcelona. Published by Elsevier Espana. All rights reserved.

  9. Implicit Memory in Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    G. Latchford

    1993-01-01

    Full Text Available A number of neuropsychological studies have revealed that memory problems are relatively common in patients with multiple sclerosis (MS. It may be useful to compare MS with conditions such as Huntington's disease (HD, which have been referred to as subcortical dementia. A characteristic of these conditions may be an impairment in implicit (unconscious memory, but not in explicit (conscious memory. The present study examined the functioning of explicit and implicit memory in MS. Results showed that implicit memory was not significantly impaired in the MS subjects, and that they were impaired on recall but not recognition. A correlation was found between implicit memory performance and disability status in MS patients. Findings also suggest the possibility of long-term priming of implicit memory in the control subjects. The implications of these results are discussed.

  10. Motor neuron disease (amyotrophic lateral sclerosis) arising from longstanding primary lateral sclerosis

    NARCIS (Netherlands)

    Bruyn, R. P.; Koelman, J. H.; Troost, D.; de Jong, J. M.

    1995-01-01

    Three men were initially diagnosed as having primary lateral sclerosis (PLS), but eventually developed amyotrophic lateral sclerosis (ALS) after 7.5, 9, and at least 27 years. Non-familial ALS and PLS might be different manifestations of a single disease or constitute completely distinct entities.

  11. Limb apraxia in multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Rapaić Dragan

    2014-01-01

    Full Text Available Background/Aim. There are almost no studies on apraxia in people with multiple sclerosis. Although the white matter is damaged in MS, it is not the only location in which the pathological changes are present. Demyelinated lesions in the cortex have recently been recognized as important components of multiple sclerosis pathology. The aim of this study was to determine whether apraxia is present among people with MS, and the importance of demographic characteristics and impairment of functional systems at conceptualization and execution of movements. Methods. The experimental group consisted of 30 patients, mean age 51.34 ± 7.70 years. The patients in the experimental group were diagnosed with MS according to the McDonald criteria. The control group consisted of 30 healthy subjects, mean age 50.30 ± 10.47 years. For research purposes, we used the following instruments: Questionnaire for Collecting Demographic Data, Kurtzke Functional Systems Scores, Waterloo-Sunnybrook Apraxia Battery (WatAB. Execution of motion tasks that are a part of the Watwere incorporated in the System for the Observation and Analysis of Motor Behavior. Results. Our study showed that limb apraxia was common in people with MS. Apraxia was present during pantomime in 26.70% of the patients, and during the imitation of movements in 44.80% of the patients. Gender, age, education level, duration of disease and a form of MS did not determine the quality of conceptualization and execution of movements. The time elapsed from the last exacerbation was a determinant of quality of executed movements. Impairments of functional systems predicted impairments of movement execution. The expanded disability scale score correlated with the severity of apraxia. Conclusion. Our study confirm the presence of apraxia in MS. It is necessary to carry out further studies using functional magnetic resonance imaging, as well as the conduct longitudinal studies to determine the precise structure of

  12. Diagnostic challenges in combined multiple sclerosis and centronuclear myopathy

    DEFF Research Database (Denmark)

    Olsen, D.B.; Langkilde, Annika Reynberg; Schmalbruch, H

    2000-01-01

    The first case of combined centronuclear myopathy and multiple sclerosis is reported. The difficulties of diagnosing multiple sclerosis in patients with muscular disorders associated with the central nervous system involvement are discussed...

  13. [Coexistence of multiple sclerosis and craniopharyngioma--case report].

    Science.gov (United States)

    Grzelec, H; Nowacki, P; Potemkowski, A

    1991-01-01

    The authors present a case of coexistence of multiple sclerosis and craniopharyngioma. Such, a case has not been described up to now. The neoplasm was clinically not recognized because its signs were completely covered by multiple sclerosis symptoms.

  14. Muscle ultrasonography to predict survival in amyotrophic lateral sclerosis

    NARCIS (Netherlands)

    Arts, I.M.P.; Overeem, S.; Pillen, S.; Schelhaas, H.J.; Zwarts, M.J.

    2011-01-01

    The authors assessed the prognostic value of muscle ultrasonography in 31 patients with amyotrophic lateral sclerosis (ALS) and compared it with accepted prognostic variables like functional capacity (measured with the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS)) and muscle

  15. What's new in multiple sclerosis spasticity research? Poster session highlights.

    Science.gov (United States)

    Linker, Ralf

    2017-11-01

    Each year at the Multiple Sclerosis Experts Summit, relevant research in the field of multiple sclerosis spasticity is featured in poster sessions. The main studies presented at this year's meeting are summarized herein.

  16. Pathogenesis of multiple sclerosis: insights from molecular and metabolic imaging

    NARCIS (Netherlands)

    Ciccarelli, O.; Barkhof, F.; Bodini, B.; De Stefano, N.; Golay, X.; Nicolay, K; Pelletier, D.; Pouwels, P.J.W.; Smith, S.A.; Wheeler-Kingshott, C.A.M.; Stankoff, B.; Yousry, T.; Miller, D. H.

    2014-01-01

    The mechanisms underlying the pathogenesis of multiple sclerosis induce the changes that underpin relapse-associated and progressive disability. Disease mechanisms can be investigated in preclinical models and patients with multiple sclerosis by molecular and metabolic imaging techniques. Many

  17. Randomized trial of oral teriflunomide for relapsing multiple sclerosis

    DEFF Research Database (Denmark)

    O'Connor, Paul; Wolinsky, Jerry S; Confavreux, Christian

    2011-01-01

    Teriflunomide is a new oral disease-modifying therapy for relapsing forms of multiple sclerosis.......Teriflunomide is a new oral disease-modifying therapy for relapsing forms of multiple sclerosis....

  18. Multiple Sclerosis, Personal Stories | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... this page please turn Javascript on. Feature: Multiple Sclerosis Personal Stories: Nicole Lemelle, Iris Young, Michael Anthony, ... quite different for a person living with multiple sclerosis, such as his girlfriend's brother, Chuy. The more ...

  19. Diagnostic challenges in combined multiple sclerosis and centronuclear myopathy

    DEFF Research Database (Denmark)

    Olsen, D.B.; Langkilde, Annika Reynberg; Schmalbruch, H

    2000-01-01

    The first case of combined centronuclear myopathy and multiple sclerosis is reported. The difficulties of diagnosing multiple sclerosis in patients with muscular disorders associated with the central nervous system involvement are discussed......The first case of combined centronuclear myopathy and multiple sclerosis is reported. The difficulties of diagnosing multiple sclerosis in patients with muscular disorders associated with the central nervous system involvement are discussed...

  20. Seizures in Patients with Multiple Sclerosis: Epidemiology, Pathophysiology and Management

    OpenAIRE

    Kelley, Brendan J.; Rodriguez, Moses

    2009-01-01

    Seizures have been recognized to occur in multiple sclerosis since early descriptions of the disease. Various studies have attempted to determine the incidence and prevalence of seizures in multiple sclerosis; although they differ in the reported prevalence, seizures do appear to be more common in multiple sclerosis cohorts than in the general population.

  1. Multiple sclerosis - etiology and diagnostic potential.

    Science.gov (United States)

    Kamińska, Joanna; Koper, Olga M; Piechal, Kinga; Kemona, Halina

    2017-06-30

    Multiple sclerosis (MS) is a chronic inflammatory and demyelinating disease of autoimmune originate. The main agents responsible for the MS development include exogenous, environmental, and genetic factors. MS is characterized by multifocal and temporally scattered central nervous system (CNS) damage which lead to the axonal damage. Among clinical courses of MS it can be distinguish relapsing-remitting multiple sclerosis (RRMS), secondary progressive multiple sclerosis (SPSM), primary progressive multiple sclerosis (PPMS), and progressive-relapsing multiple sclerosis (RPMS). Depending on the severity of signs and symptoms MS can be described as benign MS or malignant MS. MS diagnosis is based on McDonald's diagnostic criteria, which link clinical manifestation with characteristic lesions demonstrated by magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) analysis, and visual evoked potentials. Among CSF laboratory tests used to the MS diagnosis are applied: Tibbling & Link IgG index, reinbegrams, and CSF isoelectrofocusing for oligoclonal bands detection. It should be emphasized, that despite huge progress regarding MS as well as the availability of different diagnostics methods this disease is still a diagnostic challenge. It may result from fact that MS has diverse clinical course and there is a lack of single test, which would be of appropriate diagnostic sensitivity and specificity for quick and accurate diagnosis.

  2. Multiple sclerosis - etiology and diagnostic potential

    Directory of Open Access Journals (Sweden)

    Joanna Kamińska

    2017-06-01

    Full Text Available Multiple sclerosis (MS is a chronic inflammatory and demyelinating disease of autoimmune originate. The main agents responsible for the MS development include exogenous, environmental, and genetic factors. MS is characterized by multifocal and temporally scattered central nervous system (CNS damage which lead to the axonal damage. Among clinical courses of MS it can be distinguish relapsing-remitting multiple sclerosis (RRMS, secondary progressive multiple sclerosis (SPSM, primary progressive multiple sclerosis (PPMS, and progressive-relapsing multiple sclerosis (RPMS. Depending on the severity of signs and symptoms MS can be described as benign MS or malignant MS. MS diagnosis is based on McDonald’s diagnostic criteria, which link clinical manifestation with characteristic lesions demonstrated by magnetic resonance imaging (MRI, cerebrospinal fluid (CSF analysis, and visual evoked potentials. Among CSF laboratory tests used to the MS diagnosis are applied: Tibbling & Link IgG index, reinbegrams, and CSF isoelectrofocusing for oligoclonal bands detection. It should be emphasized, that despite huge progress regarding MS as well as the availability of differentdiagnostics methods this disease is still a diagnostic challenge. It may result from fact that MS has diverse clinical course and there is a lack of single test, which would be of appropriate diagnostic sensitivity and specificity for quick and accurate diagnosis.

  3. Neuroendocrine Immunoregulation in Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Nathalie Deckx

    2013-01-01

    Full Text Available Currently, it is generally accepted that multiple sclerosis (MS is a complex multifactorial disease involving genetic and environmental factors affecting the autoreactive immune responses that lead to damage of myelin. In this respect, intrinsic or extrinsic factors such as emotional, psychological, traumatic, or inflammatory stress as well as a variety of other lifestyle interventions can influence the neuroendocrine system. On its turn, it has been demonstrated that the neuroendocrine system has immunomodulatory potential. Moreover, the neuroendocrine and immune systems communicate bidirectionally via shared receptors and shared messenger molecules, variously called hormones, neurotransmitters, or cytokines. Discrepancies at any level can therefore lead to changes in susceptibility and to severity of several autoimmune and inflammatory diseases. Here we provide an overview of the complex system of crosstalk between the neuroendocrine and immune system as well as reported dysfunctions involved in the pathogenesis of autoimmunity, including MS. Finally, possible strategies to intervene with the neuroendocrine-immune system for MS patient management will be discussed. Ultimately, a better understanding of the interactions between the neuroendocrine system and the immune system can open up new therapeutic approaches for the treatment of MS as well as other autoimmune diseases.

  4. Remyelination Therapy in Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Danielle E. Harlow

    2015-12-01

    Full Text Available Multiple Sclerosis (MS is an immune-mediated disorder of the central nervous system that results in destruction of the myelin sheath that surrounds axons and eventual neurodegeneration. Current treatments approved for the treatment of relapsing forms of MS target the aberrant immune response and successfully reduce the severity of attacks and frequency of relapses. Therapies are still needed that can repair damage particularly for the treatment of progressive forms of MS for which current therapies are relatively ineffective. Remyelination can restore neuronal function and prevent further neuronal loss and clinical disability. Recent advancements in our understanding of the molecular and cellular mechanisms regulating myelination, as well as the development of high throughput screens to identify agents that enhance myelination, have lead to the identification of many potential remyelination therapies currently in pre-clinical and early clinical development. One problem that has plagued the development of treatments to promote remyelination is the difficulty in assessing remyelination in patients with current imaging techniques. Powerful new imaging technologies are making it easier to discern remyelination in patients, which is critical for the assessment of these new therapeutic strategies during clinical trials. This review will summarize what is currently known about remyelination failure in MS, strategies to overcome this failure, new therapeutic treatments in the pipeline for promoting remyelination in MS patients, and new imaging technologies for measuring remyelination in patients.

  5. Islamic fasting and multiple sclerosis

    Science.gov (United States)

    2014-01-01

    Background Month-long daytime Ramadan fasting pose s major challenges to multiple sclerosis (MS) patients in Muslim countries. Physicians should have practical knowledge on the implications of fasting on MS. We present a summary of database searches (Cochrane Database of Systematic Reviews, PubMed) and a mini-symposium on Ramadan fasting and MS. In this symposium, we aimed to review the effect of fasting on MS and suggest practical guidelines on management. Discussion In general, fasting is possible for most stable patients. Appropriate amendment of drug regimens, careful monitoring of symptoms, as well as providing patients with available evidence on fasting and MS are important parts of management. Evidence from experimental studies suggests that calorie restriction before disease induction reduces inflammation and subsequent demyelination and attenuates disease severity. Fasting does not appear to have unfavorable effects on disease course in patients with mild disability (Expanded Disability Status Scale (EDSS) score ≤3). Most experts believed that during fasting (especially in summer), some MS symptoms (fatigue, fatigue perception, dizziness, spasticity, cognitive problems, weakness, vision, balance, gait) might worsen but return to normal levels during feasting. There was a general consensus that fasting is not safe for patients: on high doses of anti-convulsants, anti-spastics, and corticosteroids; with coagulopathy or active disease; during attacks; with EDSS score ≥7. Summary These data suggest that MS patients should have tailored care. Fasting in MS patients is a challenge that is directly associated with the spiritual belief of the patient. PMID:24655543

  6. Multiple sclerosis and Capgras' syndrome.

    Science.gov (United States)

    Sidoti, Vincenzo; Lorusso, Lorenzo

    2007-11-01

    Psychotic disorders in patients with multiple sclerosis (MS), although reported in the literature, are quite rare. The maniac psychosis is increased in MS patients, especially after steroid use, but a pure paranoid (delusional) state is very uncommon. We report a case of a patient with MS complicated by Capgras' syndrome. This disorder, characterized by misidentification and also known as "illusion of double", was first described by the French psychiatrist Joseph Capgras in 1923. Our patient was a 36-year-old female, with a negative psychiatric history; the diagnosis of MS dated back to the age of 18. Subsequently, after a treatment with high dosage of steroids for optic neuritis, her psychiatric symptoms (delusion of references) began and she was then treated with clozapine. Thereafter she had repeated relapses. Immunomodulatory treatments with beta-interferon first and azathioprine then were stopped for intolerance. She came to our hospital for a new relapse with severe dynamic ataxia. After a treatment with corticosteroids the patient developed a paranoid disorder characterized by persecutory delusion (illusion of double) towards her husband. Treatment with glatiramer acetate and quetiapine improved her neuropsychiatric condition.

  7. Pediatric multiple sclerosis in Venezuela

    Directory of Open Access Journals (Sweden)

    Joaquín A. Peña

    2012-04-01

    Full Text Available OBJECTIVE: To describe the epidemiological and clinical characteristics of Venezuelan pediatric patients with multiple sclerosis (MS. METHODS: Database records from the National Program for MS were searched for patients with an established diagnosis of MS whose first symptoms appeared before age 18. RESULTS: The national database held records of 1.710 patients; 3.8% had onset of the first symptoms before age 18. 46.7% were boys, yielding an F:M ratio of 1.13:1. Many children had a disease onset characterized by motor impairment (30.7%, brainstem/cerebellum and spinal cord affectation (27.6%, headache (26%. Less frequent symptoms were sensory symptoms (8% and optic neuritis (7%. DISCUSSION: Pediatric MS patients in Venezuela represent a significant proportion of all MS cases. The clinical pattern is characterized by motor symptoms at onset, and predominantly monosymptomatic presentation with a relapsing-remitting pattern. This is the first systematic attempt to estimate the prevalence of pediatric MS in Venezuela.

  8. [Genetics of amyotrophic lateral sclerosis].

    Science.gov (United States)

    Corcia, Philippe; Blasco, Hélène; Camu, William

    2014-05-01

    Although the pathophysiology of amyotrophic lateral sclerosis remains currently unknown, involvement of genetic factors is worldwide accepted as a key clue in the motor neuron death. Since 1993 and the discovery of mutation in the SOD1 gene, number of genes linked to or promoting ALS had always growing. Among them, only four (SOD1, TARDBP, FUS and C9ORF72 genes) are unanimously recognized as convincing causative genetic factors for more than 60% of familial and probably 10% of sporadic ALS cases. Geographic origin of the studied populations tends to become one of the major items in the gene-ALS relationship: this was extremely stressed for C9ORF72. Concerning susceptibility genes factors, an increase of the risk of ALS is clearly shown for SMN1 and ATXN2 genes and accepted for some VEGF haplotypes. Finally, some modulating effects might also exist as underline for the relationships between ApoE and ALS that differ between European and North American studies. In inherited ALS, The European Federation of Neurological Societies (EFNS) edited rules that gave a legal frame to situations for which research of mutations were justified. Progress in the field of genetic raises major questions concerning the relevance of genetic studies from asymptomatic relatives. This first implies that the mutation identified in the proband case is perfectly characterized as a pathogenic mutation. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  9. [Oral treatments in multiple sclerosis].

    Science.gov (United States)

    Meca-Lallana, José Eustasio; Hernández-Clares, Rocío; Carreón-Guarnizo, Ester

    2014-12-01

    The development of new disease-modifying drugs (DMD) in relapsing-remitting multiple sclerosis (RRMS), which share the common denominator of oral administration, considerably improves patient expectations in terms of effectiveness, tolerability and treatment adherence compared with currently available drugs. However, the common route of administration of these drugs does not mean that they are equivalent, since the heading of "oral route" encompasses drugs with distinct indications and mechanisms of action, as well as heterogeneous results in terms of efficacy and safety, allowing treatment to be personalized according to the each patient' s characteristics. Currently, four oral DMD are available or in an advanced stage of clinical development: fingolimod, teriflunomide, dimethyl fumarate and laquinimod. In pivotal trials versus placebo, these molecules reduced the annualized rate of exacerbations versus placebo by 54%, 31%, 53% and 23%, respectively, the risk of progression of disability by 31%, 30%, 38% and 36%, and the number of active lesions showing contrast uptake on magnetic resonance imaging by 82%, 80%, 90% and 37%, respectively. Based on the risk/benefit ratio, fingolimod is indicated in patients with suboptimal response to initial DMD or in severe rapidly progressing RRMS, while the remaining drugs can be used as first-line options. Clinical experience with these treatments will provide new data on safety and effectiveness, which will be determinant when establishing therapeutic algorithms. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  10. The neuropsychiatry of multiple sclerosis.

    Science.gov (United States)

    Feinstein, Anthony

    2004-03-01

    This review describes the many neuropsychiatric abnormalities associated with multiple sclerosis (MS). These may be broadly divided into 2 categories: disorders of mood, affect, and behaviour and abnormalities affecting cognition. With respect to the former, the epidemiology, phenomenology, and theories of etiology are described for the syndromes of depression, bipolar disorder, euphoria, pathological laughing and crying, and psychosis attributable to MS. The section discussing cognition reviews the prevalence and nature of cognitive dysfunction, with an emphasis on abnormalities affecting multiple domains of memory, speed of information processing, and executive function. The detection, natural history, and cerebral correlates of cognitive dysfunction are also discussed. Finally, treatment pertaining to all these disorders is reviewed, with the observation that translational research has been found wanting when it comes to providing algorithms to guide clinicians. Guidelines derived from general psychiatry still largely apply, although they may not always be most effective in patients with neurologic disorders. The importance of future research addressing this imbalance is emphasized, for neuropsychiatric sequelae add significantly to the morbidity associated with MS.

  11. Natalizumab therapy of multiple sclerosis.

    LENUS (Irish Health Repository)

    Hutchinson, Michael

    2012-02-01

    Multiple sclerosis (MS) is the commonest disabling neurological disease of young and middle-aged adults affecting 1 million persons world wide. The illness begins with a relapsing-remitting MS course in 85%-90% of patients; the other 10%-15% have a primary progressive onset MS. Our current understanding is that MS is an autoimmune disorder with an inflammatory T-cell attack on myelin or some component of the oligodendrocyte--myelin structure. Relapses of disease activity result in plaques of demyelination with destruction of myelin and, to a lesser, extent axons. Lymphocytes within the central nervous system tissue recruit more cells leading to an inflammatory cascade that causes myelin damage, axonal disruption, and neuronal death. If the plaque occurs in a vocal area of the central nervous system then symptoms relating to that area result. However, magnetic resonance imaging shows that approximately 10 times more lesions occur in asymptomatic areas of the brain. Recovery from an initial relapse may appear relatively complete but persistent inflammation results in axonal injury and residual disability results. With time and accumulated lesion load, secondary degeneration of denuded axons results in the phase of secondary progressive MS usually 15-20 years after onset.

  12. Current and Future Therapies for Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Alireza Minagar

    2013-01-01

    Full Text Available With the introduction of interferon-β1b in 1993 as the first FDA-approved treatment for multiple sclerosis, the era of treatment of this incurable disease began, and its natural course was permanently changed. Currently, seven different treatments for patients with multiple sclerosis with different mechanisms of action and dissimilar side effect profiles exist. These medications include interferon-β1a intramuscular (Avonex, interferon-β1a subcutaneous (Rebif, interferon-β1b subcutaneous (Betaseron/Extavia, glatiramer acetate (Copaxone, natalizumab (Tysabri, fingolimod (Gilenya, teriflunomide (Aubagio, and mitoxantrone (Novantrone. In addition, a large number of clinical trials are being conducted to assess the safety and efficacy of various experimental agents in patients with multiple sclerosis, including alemtuzumab, dimethyl fumarate, laquinimod, rituximab, daclizumab, and cladribine. In this paper, the author presents a concise and comprehensive review of present and potential treatments for this incurable disease.

  13. Anti-integrin therapy for multiple sclerosis.

    Science.gov (United States)

    Kawamoto, Eiji; Nakahashi, Susumu; Okamoto, Takayuki; Imai, Hiroshi; Shimaoka, Motomu

    2012-01-01

    Integrins are the foremost family of cell adhesion molecules that regulate immune cell trafficking in health and diseases. Integrin alpha4 mediates organ-specific migration of immune cells to the inflamed brain, thereby playing the critical role in the pathogenesis of multiple sclerosis. Anti-alpha4 integrin therapy aiming to block infiltration of autoreactive lymphocytes to the inflamed brain has been validated in several clinical trials for the treatment of multiple sclerosis. This paper provides readers with an overview of the molecular and structural bases of integrin activation as well as rationale for using anti-alpha4 integrin therapy for multiple sclerosis and then chronicles the rise and fall of this treatment strategy using natalizumab, a humanized anti-alpha4 integrin.

  14. Anti-Integrin Therapy for Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Eiji Kawamoto

    2012-01-01

    Full Text Available Integrins are the foremost family of cell adhesion molecules that regulate immune cell trafficking in health and diseases. Integrin alpha4 mediates organ-specific migration of immune cells to the inflamed brain, thereby playing the critical role in the pathogenesis of multiple sclerosis. Anti-alpha4 integrin therapy aiming to block infiltration of autoreactive lymphocytes to the inflamed brain has been validated in several clinical trials for the treatment of multiple sclerosis. This paper provides readers with an overview of the molecular and structural bases of integrin activation as well as rationale for using anti-alpha4 integrin therapy for multiple sclerosis and then chronicles the rise and fall of this treatment strategy using natalizumab, a humanized anti-alpha4 integrin.

  15. Longitudinal multiple sclerosis lesion segmentation data resource

    Directory of Open Access Journals (Sweden)

    Aaron Carass

    2017-06-01

    Full Text Available The data presented in this article is related to the research article entitled “Longitudinal multiple sclerosis lesion segmentation: Resource and challenge” (Carass et al., 2017 [1]. In conjunction with the 2015 International Symposium on Biomedical Imaging, we organized a longitudinal multiple sclerosis (MS lesion segmentation challenge providing training and test data to registered participants. The training data consists of five subjects with a mean of 4.4 (±0.55 time-points, and test data of fourteen subjects with a mean of 4.4 (±0.67 time-points. All 82 data sets had the white matter lesions associated with multiple sclerosis delineated by two human expert raters. The training data including multi-modal scans and manually delineated lesion masks is available for download. In addition, the testing data is also being made available in conjunction with a website for evaluating the automated analysis of the testing data.

  16. Neuropsychiatric problems in tuberous sclerosis complex.

    Science.gov (United States)

    Asato, Miya R; Hardan, Antonio Y

    2004-04-01

    Tuberous sclerosis complex is an autosomal dominant disorder characterized by abnormal cellular differentiation and proliferation, as well as abnormal neuronal migration. It is a disease affecting multiple organ systems and typically has brain involvement, causing severe disabilities. This article reviews the literature of the commonly associated neuropsychiatric complications, including mental retardation, autism-like features, and other behavior problems, which are discussed in the context of the neuropathology and epilepsy observed in tuberous sclerosis complex. The potential pathogenesis of neuropsychiatric problems is explored, including links to the genetics, neuropathology, neurotrophins, and epilepsy factors associated with tuberous sclerosis complex. Treatment of neuropsychiatric symptoms, including autism-like features, attention deficits, and sleep disorders, is also discussed.

  17. Retinal layer segmentation in multiple sclerosis

    DEFF Research Database (Denmark)

    Petzold, Axel; Balcer, Laura J; Calabresi, Peter A

    2017-01-01

    BACKGROUND: Structural retinal imaging biomarkers are important for early recognition and monitoring of inflammation and neurodegeneration in multiple sclerosis. With the introduction of spectral domain optical coherence tomography (SD-OCT), supervised automated segmentation of individual retinal...... layers is possible. We aimed to investigate which retinal layers show atrophy associated with neurodegeneration in multiple sclerosis when measured with SD-OCT. METHODS: In this systematic review and meta-analysis, we searched for studies in which SD-OCT was used to look at the retina in people...... with multiple sclerosis with or without optic neuritis in PubMed, Web of Science, and Google Scholar between Nov 22, 1991, and April 19, 2016. Data were taken from cross-sectional cohorts and from one timepoint from longitudinal studies (at least 3 months after onset in studies of optic neuritis). We classified...

  18. Clinical neurorestorative progress in multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Geng TC

    2015-03-01

    Full Text Available Tong Chao Geng,1 Victor W Mark2 1Department of Neurology, Yuquan Hospital of Tsinghua University, Beijing, People's Republic of China; 2Department of Physical Medicine and Rehabilitation, University of Alabama at Birmingham, Birmingham, AL, USA Abstract: With the chronic progress of the disease, the majority of patients with multiple sclerosis will eventually become severely disabled and unable to live independently. Neurorestorative strategies, including cell therapy and neuromodulation, combined with neurorehabilitation, have shown encouraging signs that may benefit multiple sclerosis patients. This review indicates current progress in this area. Keywords: demyelinating disease, immunosuppression, cell therapy, neuromodulation, neurorehabilitation 

  19. The Danish multiple sclerosis treatment register

    DEFF Research Database (Denmark)

    Magyari, Melinda; Koch-Henriksen, Nils; Sørensen, Per Soelberg

    2016-01-01

    Aim of the database: The Danish Multiple Sclerosis Treatment Register (DMSTR) serves as a clinical quality register, enabling the health authorities to monitor the quality of the diseasemodifying treatment, and it is an important data source for epidemiological research. Study population: The DMSTR...... includes all patients with multiple sclerosis who had been treated with disease-modifying drugs since 1996. At present, more than 8,400 patients have been registered in this database. Data are continuously entered online into a central database from all sites in Denmark at start and at regular visits. Main...

  20. The initiation and prevention of multiple sclerosis

    Science.gov (United States)

    Ascherio, Alberto; Munger, Kassandra L.; Lünemann, Jan D.

    2015-01-01

    Although there are strong genetic determinants of multiple sclerosis, the results of migration studies support a role for the environment, and through rigorous epidemiological investigation, Epstein-Barr virus infection, vitamin D nutrition, and cigarette smoking have been identified as likely causal factors for multiple sclerosis. In this review, we discuss the strength of this evidence, as well as the potential biological mechanisms underlying these associations. Both vitamin D nutrition and cigarette smoking are modifiable and as such, increasing vitamin D levels and smoking avoidance have the potential to substantially reduce MS risk and influence its progression. PMID:23045241

  1. Biomarkers in Multiple Sclerosis: Role of Antibodies

    Directory of Open Access Journals (Sweden)

    Thomas Berger

    2006-01-01

    Full Text Available The first international workshop on “Biomarkers in Multiple Sclerosis” was organized by B. Bielekova, R. Hohlfeld, R. Martin and U. Utz from April 14–16, 2004, in Washington, DC. The workshop intended to discuss the current status and potential applicability of biological markers for the understanding of the pathogenesis, diagnosis, and therapy of multiple sclerosis. The present review summarizes the presentation on the potential role of antibodies as biomarkers for diagnosis, disease activity, classification and prediction of clinical courses in multiple sclerosis.

  2. Amyotrophic Lateral Sclerosis: A Historical Perspective.

    Science.gov (United States)

    Katz, Jonathan S; Dimachkie, Mazen M; Barohn, Richard J

    2015-11-01

    This article looks back in time to see where the foundational basis for the understanding of amyotrophic lateral sclerosis originated. This foundation was created primarily in France by Jean-Martin Charcot and his fellow countrymen and disciples, along with key contributions from early clinicians in England and Germany. The early work on amyotrophic lateral sclerosis provides a useful foundation for today's clinicians with respect to tying together genetic and biologic aspects of the disorder that have been discovered over the past few decades. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. Sibship characteristics and risk of multiple sclerosis

    DEFF Research Database (Denmark)

    Bager, Peter; Nielsen, Nete Munk; Bihrmann, Kristine

    2006-01-01

    It has been hypothesized that age at infection with a common microbial agent may be associated with the risk of multiple sclerosis (MS). The authors addressed this hypothesis by using number of older siblings and other sibship characteristics as an approximation of age at exposure to common...... Sclerosis Register. The cohort of 1.9 million Danes was followed for 28.1 million person-years; during that time, 1,036 persons developed MS. Overall, there was no association between number of older siblings, number of younger siblings, total number of siblings, age distance from the nearest younger...

  4. Primary lateral sclerosis mimicking atypical parkinsonism

    DEFF Research Database (Denmark)

    Norlinah, Ibrahim M; Bhatia, Kailash P; Østergaard, Karen

    2007-01-01

    Primary lateral sclerosis (PLS), the upper motor neurone variant of motor neurone disease, is characterized by progressive spinal or bulbar spasticity with minimal motor weakness. Rarely, PLS may present with clinical features resembling parkinsonism resulting in occasional misdiagnosis as one...... of the atypical parkinsonian syndromes. Here we describe five patients initially referred with a diagnosis of levodopa-unresponsive atypical parkinsonism (n = 4) or primary progressive multiple sclerosis (n = 1), but subsequently found to have features consistent with PLS instead. Onset age varied from 49 to 67...

  5. Intravenous polyclonal human immunoglobulins in multiple sclerosis

    DEFF Research Database (Denmark)

    Sørensen, Per Soelberg

    2008-01-01

    Intravenous immunoglobulin (IVIG) is an established therapy for demyelinating diseases of the peripheral nervous system. IVIG exerts a number of effects that may be beneficial in multiple sclerosis (MS). Four double-blind IVIG trials have been performed in relapsing-remitting MS. A meta-analysis ......Intravenous immunoglobulin (IVIG) is an established therapy for demyelinating diseases of the peripheral nervous system. IVIG exerts a number of effects that may be beneficial in multiple sclerosis (MS). Four double-blind IVIG trials have been performed in relapsing-remitting MS. A meta...

  6. Motor neuron disease (amyotrophic lateral sclerosis) arising from longstanding primary lateral sclerosis.

    OpenAIRE

    Bruyn, R P; Koelman, J H; Troost, D.; de Jong, J M

    1995-01-01

    Three men were initially diagnosed as having primary lateral sclerosis (PLS), but eventually developed amyotrophic lateral sclerosis (ALS) after 7.5, 9, and at least 27 years. Non-familial ALS and PLS might be different manifestations of a single disease or constitute completely distinct entities. The clinical diagnosis of PLS predicts a median survival that is four to five times longer than in ALS.

  7. Dimethyl fumarate for multiple sclerosis.

    Science.gov (United States)

    Xu, Zhu; Zhang, Feng; Sun, FangLi; Gu, KeFeng; Dong, Shuai; He, Dian

    2015-04-22

    Multiple sclerosis (MS) often leads to severe neurological disability and a serious decline in quality of life. The ideal target of disease-modifying therapy for MS is to prevent disability worsening and improve quality of life. Dimethyl fumarate is considered to have an immunomodulatory activity and neuroprotective effect. It has been approved by the U.S. Food and Drug Administration (FDA) and the European Medicines Agency as a first-line therapy for adult patients with relapsing-remitting MS (RMSS). To assess the benefit and safety of dimethyl fumarate as monotherapy or combination therapy versus placebo or other approved disease-modifying drugs (interferon beta, glatiramer acetate, natalizumab, mitoxantrone, fingolimod, teriflunomide, alemtuzumab) for patients with MS.  The Trials Search Co-ordinator searched the Trials Specialised Register of the Cochrane Multiple Sclerosis and Rare Diseases of the Central Nervous System Group (4 June 2014). We checked reference lists of published reviews and retrieved articles and searched reports (2004 to June 2014) from the MS societies in Europe and America. We also communicated with investigators participating in trials of dimethyl fumarate and the Biogen Idec Medical Information. We included randomised, controlled, parallel-group clinical trials (RCTs) with a length of follow-up equal to or greater than one year evaluating dimethyl fumarate, as monotherapy or combination therapy, versus placebo or other approved disease-modifying drugs for patients with MS without restrictions regarding dosage, administration frequency and duration of treatment. We used the standard methodological procedures of The Cochrane Collaboration. Two review authors independently assessed trial quality and extracted data. Disagreements were discussed and resolved by consensus among the review authors. We contacted the principal investigators of included studies for additional data or confirmation of data. Two RCTs were included, involving 2667

  8. Nutrition Facts in Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Paolo Riccio

    2015-02-01

    Full Text Available The question whether dietary habits and lifestyle have influence on the course of multiple sclerosis (MS is still a matter of debate, and at present, MS therapy is not associated with any information on diet and lifestyle. Here we show that dietary factors and lifestyle may exacerbate or ameliorate MS symptoms by modulating the inflammatory status of the disease both in relapsing-remitting MS and in primary-progressive MS. This is achieved by controlling both the metabolic and inflammatory pathways in the human cell and the composition of commensal gut microbiota. What increases inflammation are hypercaloric Western-style diets, characterized by high salt, animal fat, red meat, sugar-sweetened drinks, fried food, low fiber, and lack of physical exercise. The persistence of this type of diet upregulates the metabolism of human cells toward biosynthetic pathways including those of proinflammatory molecules and also leads to a dysbiotic gut microbiota, alteration of intestinal immunity, and low-grade systemic inflammation. Conversely, exercise and low-calorie diets based on the assumption of vegetables, fruit, legumes, fish, prebiotics, and probiotics act on nuclear receptors and enzymes that upregulate oxidative metabolism, downregulate the synthesis of proinflammatory molecules, and restore or maintain a healthy symbiotic gut microbiota. Now that we know the molecular mechanisms by which dietary factors and exercise affect the inflammatory status in MS, we can expect that a nutritional intervention with anti-inflammatory food and dietary supplements can alleviate possible side effects of immune-modulatory drugs and the symptoms of chronic fatigue syndrome and thus favor patient wellness.

  9. Targeted Therapy in Systemic Sclerosis

    Directory of Open Access Journals (Sweden)

    Murray Baron

    2016-10-01

    Full Text Available Targeted therapies use an understanding of the pathophysiology of a disease in an individual patient. Although targeted therapy for systemic sclerosis (SSc, scleroderma has not yet reached the level of patient-specific treatments, recent developments in the understanding of the global pathophysiology of the disease have led to new treatments based on the cells and pathways that have been shown to be involved in the disease pathogenesis. The presence of a B cell signature in skin biopsies has led to the trial of rituximab, an anti-CD20 antibody, in SSc. The well-known properties of transforming growth factor (TGF-β in promoting collagen synthesis and secretion has led to a small trial of fresolimumab, a human IgG4 monoclonal antibody capable of neutralizing TGF-β. Evidence supporting important roles for interleukin-6 in the pathogenesis of SSc have led to a large trial of tocilizumab in SSc. Soluble guanylate cyclase (sGC is an enzyme that catalyzes the production of cyclic guanosine monophosphate (cGMP upon binding of nitric oxide (NO to the sGC molecule. Processes such as cell growth and proliferation are regulated by cGMP. Evidence that sGC may play a role in SSc has led to a trial of riociguat, a molecule that sensitizes sGC to endogenous NO. Tyrosine kinases (TKs are involved in a wide variety of physiologic and pathological processes including vascular remodeling and fibrogenesis such as occurs in SSc. This has led to a trial of nintedanib, a next-generation tyrosine-kinase (TK inhibitor which targets multiple TKs, in SSc.

  10. Spinal Cord Neuronal Pathology in Multiple Sclerosis

    NARCIS (Netherlands)

    Gilmore, C.P.; DeLuca, G.C.; Bo, L.; Owens, T; Lowe, J.; Esiri, M.M.; Evangelou, N.

    2009-01-01

    The objective of this study was to assess neuronal pathology in the spinal cord in multiple sclerosis (MS), both within myelinated and demyelinated tissue. Autopsy material was obtained from 38 MS cases and 21 controls. Transverse sections were taken from three spinal cord levels and stained using

  11. Cognitive Impairment in Tuberous Sclerosis Complex

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-04-01

    Full Text Available Seizure histories, EEG recordings and intelligence equivalents and their relation to tuber/brain proportion (TBP measured by 3 dimensional MRI were evaluated in 61 patients with tuberous sclerosis complex (TSC, in a study at University Medical Center, Utrecht, the Netherlands.

  12. The role of diet in multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Klaudia Konikowska

    2014-03-01

    Full Text Available Multiple sclerosis is a demyelinating disease of the central nervous system, occurs most commonly in adults between 20 and 40 years of age. Etiology of this disease is still not known, and one of the analyzed environmental factors is food. In this study, based on literature, discusses the impact of dietary intake of food on the occurrence and development of the disease. This study demonstrated that patients with multiple sclerosis less than healthy people ate bread and cereal products, fish, some vegetables and fruits. While patients often consumed an animal products, whole milk and sweets. It also discusses Swank’s diet, which suggest that the severity of symptoms disease may be responsible food of animal origin, which is rich in saturated fatty acids. The author found that patients who comply a diet, after 34 years of application, the risk of death due to multiple sclerosis was three times lower than in those who have not complied with all the dietary recommendations. Moreover, research demonstrated a correlation between deficiency of omega-3, vitamin D, B12, antioxidant vitamins and folic acid in diet, and the development and exacerbation of symptoms of multiple sclerosis. Results of research concerning the relationship between dietary factors and the occurrence and development of this disease are inconclusive why the need is greater the amount thereof in this field. Patients may consider using a diet or supplements, if pharmacotherapy and other alternative and complementary methods do not bring expected effects.

  13. The risk of multiple sclerosis in nurses

    DEFF Research Database (Denmark)

    Stenager, Egon; Brønnum-Hansen, Henrik; Koch-Henriksen, Nils

    2003-01-01

    The incidence of multiple sclerosis (MS) in nurses during the period 1980-1996 was calculated in a nationwide study. The cohort consisted of 69,428 nurses, 2185 men and 67,243 women. Sixty (two men and 58 women) with definite MS were observed, whereas 69.3 were expected. We found no significant...

  14. Exercise therapy for fatigue in multiple sclerosis

    NARCIS (Netherlands)

    Heine, Martin; van de Port, Ingrid; Rietberg, Marc B; van Wegen, Erwin Eh; Kwakkel, Gert

    2015-01-01

    BACKGROUND: Multiple sclerosis (MS) is an immune-mediated disease of the central nervous system affecting an estimated 1.3 million people worldwide. It is characterised by a variety of disabling symptoms of which excessive fatigue is the most frequent. Fatigue is often reported as the most

  15. Nuclear magnetic resonance relaxation in multiple sclerosis

    DEFF Research Database (Denmark)

    Larsson, H B; Barker, G J; MacKay, A

    1998-01-01

    OBJECTIVES: The theory of relaxation processes and their measurements are described. An overview is presented of the literature on relaxation time measurements in the normal and the developing brain, in experimental diseases in animals, and in patients with multiple sclerosis. RESULTS AND CONCLUS...

  16. Esophageal involvement in progressive systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Stephen A. Geller

    2013-10-01

    Full Text Available Progressive systemic sclerosis (PSSc is a chronic disease of unknown etiology characterized by progressive, abnormal accumulation of fibrous tissue in the skin and many organs. Characteristically, there is induration and thickening of the skin (scleroderma, abnormalities involving muscles, joints, and viscera. The first description was likely by William and Robert Watson in 1754.

  17. Treating fatigue in multiple sclerosis : Aerobic training

    NARCIS (Netherlands)

    Heine, M

    2016-01-01

    Multiple sclerosis (MS) is considered a chronic and debilitating autoimmune-mediated inflammatory and neurodegenerative disorder of the central nervous system. It is the number one neurological condition in young adults, affecting approximately 17.000 people in the Netherlands. Patients with MS

  18. Antigen-specific therapies in multiple sclerosis

    NARCIS (Netherlands)

    Noort, J.M. van

    1998-01-01

    Multiple sclerosis is the major neurological disease of young adults in the western world, affecting about 1 per 1,000. It is characterised by chronic or recurrent lesions of inflammatory damage in the white matter of the central nervous system. Within such lesions, the protective myelin sheath is

  19. Cigarette smoking and progression in multiple sclerosis

    NARCIS (Netherlands)

    Koch, Marcus; van Harten, Annemarie; Uyttenboogaart, Maarten; De Keyser, Jacques

    2007-01-01

    Objective: To investigate the influence of cigarette smoking on progression and disability accumulation in multiple sclerosis ( MS). Methods: Information on past and present smoking of 364 patients with MS was obtained through a structured questionnaire survey. We used Kaplan-Meier analyses and Cox

  20. Cardiac involvement in patients of systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Ahmad Qazi

    2008-01-01

    Full Text Available Background: Systemic sclerosis is a multi-systemic autoimmune disorder. Cardiac involvement by the disease, although not included in the diagnostic criteria, may be seen either clinically, histologically or may be revealed by various investigative modalities. Purpose: To see the profile of cardiac involvement in patients of systemic sclerosis. Materials and Methods: Forty-seven patients of systemic sclerosis were included in the study. After taking a complete history and doing a detailed physical examination, the patients were submitted to electrocardiogram ECG (all leads, echocardiography and x-ray chest. Furst′s organ indices scoring system for cardiac involvement was followed. Findings: Forty-seven patients of systemic sclerosis were included in the study. Five females gave a history of palpitations. A loud pulmonic heart sound was heard in 1. Arrhythmias were observed in 5 patients. Significantly, echocardiography revealed valvular involvement in 5 patients. Left ventricular hypertrophy was seen in 2 patients. Conclusions: In our patients, cardiac involvement was rare. In contrast to other studies, valvular involvement was a prominent feature. Limitations: Complete evaluation for arrhythmias with 24-h Holter monitor was not used

  1. Spinal cord involvement in Balo's concentric sclerosis

    NARCIS (Netherlands)

    Kreft, Karim L.; Mellema, S. Jouke; Hintzen, Rogier Q.

    2009-01-01

    We present a patient with a history of myelitis, who had a steroid refractory attack of CNS inflammatory demyelinating disease that developed into cerebral concentric sclerosis of Balo after plasma exchange. The acute inflammatory disease involved the spinal cord, a phenomenon rarely demonstrated.

  2. Unusual Cutaneous Manifestation of Tuberous Sclerosis

    Directory of Open Access Journals (Sweden)

    K C Shah

    1980-01-01

    Full Text Available Cutaneous manifestations are found in 60 to 70% cases of tuberous sclerosis and consist of adenoma sebaceum, periungual fibromatas, cafe au lait spots, shagreen patches and white macules. Our patient showed unusual skin manifestations like spotty pigmentation on the chest, back and abdomen and hyperkeratosis palmaris et plantaris.

  3. [The role of diet in multiple sclerosis].

    Science.gov (United States)

    Konikowska, Klaudia; Regulska-Ilow, Bożena

    2014-03-27

    Multiple sclerosis is a demyelinating disease of the central nervous system, occurs most commonly in adults between 20 and 40 years of age. Etiology of this disease is still not known, and one of the analyzed environmental factors is food. In this study, based on literature, discusses the impact of dietary intake of food on the occurrence and development of the disease. This study demonstrated that patients with multiple sclerosis less than healthy people ate bread and cereal products, fish, some vegetables and fruits. While patients often consumed an animal products, whole milk and sweets. It also discusses Swank's diet, which suggest that the severity of symptoms disease may be responsible food of animal origin, which is rich in saturated fatty acids. The author found that patients who comply a diet, after 34 years of application, the risk of death due to multiple sclerosis was three times lower than in those who have not complied with all the dietary recommendations. Moreover, research demonstrated a correlation between deficiency of omega-3, vitamin D, B12, antioxidant vitamins and folic acid in diet, and the development and exacerbation of symptoms of multiple sclerosis. Results of research concerning the relationship between dietary factors and the occurrence and development of this disease are inconclusive why the need is greater the amount thereof in this field. Patients may consider using a diet or supplements, if pharmacotherapy and other alternative and complementary methods do not bring expected effects.

  4. Traces of disease in amyotrophic lateral sclerosis

    NARCIS (Netherlands)

    Verstraete, E.

    2012-01-01

    Amyotrophic lateral sclerosis (ALS) is a progressive disease of the motor system involving both upper motor neurons in the brain and lower motor neurons in the spinal cord. Patients suffer from progressive wasting and weakness of limb, bulbar and respiratory muscles. Onset and disease course in ALS

  5. Cognitive and depressive disorders in multiple sclerosis.

    Science.gov (United States)

    Alajbegović, Azra; Loga, Natasa; Tiro, Naida; Alajbegović, Salem; Cindro, Veselin; Hozo, Izet

    2009-03-01

    Among other symptoms, multiple sclerosis can also produce symptoms of affective and cognitive disorders. The majority of patients have certain cognitive dysfunctions, and the' most common affective disorder is reactive depression. The aim of the study was to determine the correlation of the Mini-Mental State (MMS) and Beck Depression Inventory (BDI) scale scores with the Expanded Disability Status Scale (EDSS) score in patients with multiple sclerosis treated at University Department of Neurology, Sarajevo University Clinical Center in Sarajevo. We evaluated 50 randomly selected patients with various types of multiple sclerosis using the MMS, BDI and EDSS instruments. The study included 33 women and 17 men (66% : 34%), mean age 40.74 years (SD 9.236). The mean value of EDSS score was 3.98, ranging from 1.0 to 8.5 in women and from 1.0 to 6.5 in men. BDI scale scores showed a mean value of 12.56. The mean MMS score in baseline sample was 26.88. Statistically significant positive correlation was found between age and EDSS score, and negative correlation between EDSS and MMS, as well as between BDI and MMS. Study results indicated older patients with multiple sclerosis to have a higher EDSS score with more pronounced cognitive disturbances. There was no statistically significant correlation between EDSS score and depression.

  6. Concordance for multiple sclerosis in Danish twins

    DEFF Research Database (Denmark)

    Hansen, T; Skytthe, Axel; Stenager, Egon

    2005-01-01

    The occurrence of multiple sclerosis (MS) in twins has not previously been studied in complete nationwide data sets. The existence of almost complete MS and twin registries in Denmark ensures that essentially unbiased samples of MS cases among twins can be obtained. In this population-based study...

  7. The association between multiple sclerosis and uveitis

    DEFF Research Database (Denmark)

    Olsen, Tine Gadegaard; Frederiksen, Jette

    2016-01-01

    The association between multiple sclerosis (MS) and uveitis has been questioned. Nerve tissue and eye tissue develop from the same embryonic cells; thus, MS and uveitis could be etiologically associated. In published studies, the prevalence of MS in patients with uveitis differe from 0.7% to 30...

  8. Myeloproliferative neoplasms in five multiple sclerosis patients

    DEFF Research Database (Denmark)

    Thorsteinsdottir, Sigrun; Bjerrum, Ole Weis

    2013-01-01

    The concurrence of myeloproliferative neoplasms (MPNs) and multiple sclerosis (MS) is unusual. We report five patients from a localized geographic area in Denmark with both MS and MPN; all the patients were diagnosed with MPNs in the years 2007-2012. We describe the patients' history and treatment...

  9. Clinical psychology and amyotrophic lateral sclerosis

    Directory of Open Access Journals (Sweden)

    Francesco Pagnini

    2010-07-01

    Full Text Available Amyotrophic Lateral Sclerosis is a fatal and progressive disease, characterized by progressive muscles weakness, with consequent loss of physical capacities. Psychologists can play an important role in ALS care, by providing clinical activities in every step of the disease, including support and counseling activities directed to patients, their caregivers and to physicians.

  10. Tuberous Sclerosis Complex: mutations, functions and phenotypes

    NARCIS (Netherlands)

    O. Sancak (Ozgur)

    2005-01-01

    textabstractTuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in multiple organs and tissues. TSC is caused by mutations in either the TSC1 or TSC2 gene. We searched for mutations in both genes in a cohort of 490 patients diagnosed

  11. Treatment of seizures in multiple sclerosis

    NARCIS (Netherlands)

    Koch, Marcus W.; Polman, Susanne K. L.; Uyttenboogaart, Maarten; De Keyser, Jacques

    2009-01-01

    Background Epileptic seizures occur in only a minority of patients with multiple sclerosis (MS), but can have serious consequences. The available literature suggests an association of seizures in MS with cortical and subcortical demyelinating lesions, which suggest that seizures in MS are probably

  12. Multiple Sclerosis: From Molecules to Treatment

    Directory of Open Access Journals (Sweden)

    Simon A. Broadley

    2013-04-01

    Full Text Available The treatment of multiple sclerosis has been radically transformed over the past 20 years and this special issue of IJMS, focusing on the molecular aspects of the disease, highlights the growing conformity of the various investigative approaches. It is a very exciting time to be involved in the research of this disease.

  13. Towards gene therapy in amyotrophic lateral sclerosis

    NARCIS (Netherlands)

    Wisman, Liselijn Agatha Barendina

    2004-01-01

    Amyotrophic lateral sclerosis (ALS) is a paralytic neurodegenerative disorder, characterised by a specific loss of motoneurons. Although the exact pathogenesis is largely enigmatic, it is known that glutamate excitotoxicity plays an important role in motoneuron cell death. Glutamate is one of the

  14. Blindness in tuberous sclerosis: A case report

    African Journals Online (AJOL)

    2015-06-24

    Jun 24, 2015 ... managed by a multidisciplinary- team of ophthalmologists, neuro- surgeons and radiologists, co- ordinated by a paediatrician. Conclusion: The diagnosis of tu- berous sclerosis complex (TSC) was based on the lesions found on clinical examination, imaging, and pathologic studies. The blindness.

  15. Lung volume recruitment in multiple sclerosis.

    Science.gov (United States)

    Srour, Nadim; LeBlanc, Carole; King, Judy; McKim, Douglas A

    2013-01-01

    Pulmonary function abnormalities have been described in multiple sclerosis including reductions in forced vital capacity (FVC) and cough but the time course of this impairment is unknown. Peak cough flow (PCF) is an important parameter for patients with respiratory muscle weakness and a reduced PCF has a direct impact on airway clearance and may therefore increase the risk of respiratory tract infections. Lung volume recruitment is a technique that improves PCF by inflating the lungs to their maximal insufflation capacity. Our goals were to describe the rate of decline of pulmonary function and PCF in patients with multiple sclerosis and describe the use of lung volume recruitment in this population. We reviewed all patients with multiple sclerosis referred to a respiratory neuromuscular rehabilitation clinic from February 1999 until December 2010. Lung volume recruitment was attempted in patients with FVC lung volume recruitment was prescribed if it resulted in a significant improvement in the laboratory. There were 79 patients included, 35 of whom were seen more than once. A baseline FVC Lung volume recruitment was associated with a slower decline in FVC (plung volume recruitment is associated with a slower rate of decline in lung function and peak cough flow. Given design limitations, additional studies are needed to assess the role of lung volume recruitment in patients with multiple sclerosis.

  16. Nutritional management of encapsulating peritoneal sclerosis with ...

    African Journals Online (AJOL)

    Saspen Case Study: Nutritional management of encapsulating peritoneal sclerosis with intradialytic parenteral nutrition. 2014;27(1). S Afr J Clin Nutr. Kriel J, BSc(Dietetics); Clinical Dietitian; Esau N, MSc(Dietetics), Clinical Dietitian. Tygerberg Academic Hospital; Department of Health. Correspondence: Janine Kriel, e-mail: ...

  17. Cholinergic imbalance in the multiple sclerosis hippocampus

    NARCIS (Netherlands)

    Kooi, Evert-Jan; Prins, Marloes; Bajic, Natasha; Beliën, Jeroen A. M.; Gerritsen, Wouter H.; van Horssen, Jack; Aronica, Eleonora; van Dam, Anne-Marie; Hoozemans, Jeroen J. M.; Francis, Paul T.; van der Valk, Paul; Geurts, Jeroen J. G.

    2011-01-01

    Hippocampal pathology was shown to be extensive in multiple sclerosis (MS) and is associated with memory impairment. In this post-mortem study, we investigated hippocampal tissue from MS and Alzheimer's disease (AD) patients and compared these to non-neurological controls. By means of biochemical

  18. Nutritional management of encapsulating peritoneal sclerosis with ...

    African Journals Online (AJOL)

    The learning objectives of the case study were: • To discuss the management of a patient with encapsulating peritoneal sclerosis. • To discuss the nutritional recommendations of adults with end- stage kidney disease (ESKD) on haemodialysis. • To discuss intradialytic parenteral nutrition as a nutrition therapeutic ...

  19. Mapping and predicting mortality from systemic sclerosis

    DEFF Research Database (Denmark)

    Elhai, Muriel; Meune, Christophe; Boubaya, Marouane

    2017-01-01

    OBJECTIVES: To determine the causes of death and risk factors in systemic sclerosis (SSc). METHODS: Between 2000 and 2011, we examined the death certificates of all French patients with SSc to determine causes of death. Then we examined causes of death and developed a score associated with all...

  20. Immune system alterations in amyotrophic lateral sclerosis

    DEFF Research Database (Denmark)

    Hovden, H; Frederiksen, J L; Pedersen, S W

    2013-01-01

    Amyotrophic lateral sclerosis is a disease of which the underlying cause and pathogenesis are unknown. Cumulatative data clearly indicates an active participation by the immune system in the disease. An increasingly recognized theory suggests a non-cell autonomous mechanism, meaning that multiple...

  1. Sleep and Fasciculations in Amyothropic Lateral Sclerosis

    Czech Academy of Sciences Publication Activity Database

    Šonka, K.; Fiksa, J.; Horváth, E.; Kemlink, D.; Süssová, J.; Böhm, J.; Šebesta, Václav; Volná, J.; Nevšímalová, S.

    2004-01-01

    Roč. 8, č. 1 (2004), s. 25-30 ISSN 1432-9123 R&D Projects: GA MZd NF5999 Keywords : amyothropic lateral sclerosis ALS * fasciculation * fragmentary myoclonus * periodic leg movements in sleep PLMS * polysomnography PSG * electromyography EMG * REM sleep Subject RIV: BD - Theory of Information

  2. Onset symptoms in paediatric multiple sclerosis

    DEFF Research Database (Denmark)

    Boesen, Magnus Spangsberg; Sellebjerg, Finn; Blinkenberg, Morten

    2014-01-01

    INTRODUCTION: Paediatric multiple sclerosis (MS) carries a relatively higher mortality and morbidity than adult MS. Paediatric MS symptoms and paraclinical findings at the first demyelinating event have never before been characterised in a Danish setting. The aim of this study was to compare...

  3. MYO9B polymorphisms in multiple sclerosis

    DEFF Research Database (Denmark)

    Kemppinen, A.; Suvela, M.; Tienari, P.J.

    2009-01-01

    Single-nucleotide polymorphisms (SNPs) in the 3' region of myosin IXB (MYO9B) gene have recently been reported to associate with different inflammatory or autoimmune diseases. We monitored for the association of MYO9B variants to multiple sclerosis (MS) in four Northern European populations. First...

  4. Pharmacological management of spasticity in multiple sclerosis

    DEFF Research Database (Denmark)

    Otero-Romero, Susana; Sastre-Garriga, Jaume; Comi, Giancarlo

    2016-01-01

    Background and objectives: Treatment of spasticity poses a major challenge given the complex clinical presentation and variable efficacy and safety profiles of available drugs. We present a systematic review of the pharmacological treatment of spasticity in multiple sclerosis (MS) patients. Methods...

  5. The socioeconomic consequences of multiple sclerosis

    DEFF Research Database (Denmark)

    Jennum, Poul; Wanscher, Benedikte; Frederiksen, Jette

    2012-01-01

    Multiple sclerosis (MS) has serious negative effects on health-, social-, and work-related issues for the patients and their families, thus causing significant socioeconomic burden. The objective of the study was to determine healthcare costs and indirect illness costs in MS patient in a national...

  6. Gender and autoimmune comorbidity in multiple sclerosis

    DEFF Research Database (Denmark)

    Magyari, Melinda; Koch-Henriksen, Nils; Pfleger, Claudia C

    2014-01-01

    BACKGROUND: The female preponderance in incidence of multiple sclerosis (MS) calls for investigations into sex differences in comorbidity with other autoimmune diseases (ADs). OBJECTIVES: To determine whether male and female patients with MS have a higher frequency of autoimmune comorbidity than...

  7. Psychiatric co-morbidity in multiple sclerosis

    DEFF Research Database (Denmark)

    Hoang, Huong; Laursen, Bjarne; Stenager, Elsebeth N

    2015-01-01

    BACKGROUND: Studies of depression and anxiety in multiple sclerosis (MS) patients have reported higher rates in MS patients than the general population. OBJECTIVE: To estimate the risk of depression and anxiety and the use of tricyclic antidepressant and selective serotonin reuptake inhibitors...

  8. 78 FR 72573 - Specially Adapted Housing Eligibility for Amyotrophic Lateral Sclerosis Beneficiaries

    Science.gov (United States)

    2013-12-03

    ... veterans and active servicemembers with service- connected amyotrophic lateral sclerosis (ALS) rated... Amyotrophic Lateral Sclerosis Beneficiaries.'' Copies of comments received will be available for public... occasional locomotion by other methods may be possible. (d) Amyotrophic lateral sclerosis. VA considers Sec...

  9. Risks of multiple sclerosis in relatives of patients in Flanders, Belgium

    NARCIS (Netherlands)

    Carton, H; Vlietinck, R; Debruyne, J; DeKeyser, J; DHooghe, MB; Loos, R; Medaer, R; Truyen, L; Yee, IML; Sadovnick, AD

    Objectives - To calculate age adjusted risks for multiple sclerosis in relatives of Flemish patients with multiple sclerosis. Methods - Lifetime risks were calculated using the maximum likelihood approach. Results - Vital information was obtained on 674 probands with multiple sclerosis in Flanders

  10. Mulptiple Sclerosis, Symptoms, Diagnosis, Treatment and Latest NIH Research | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... this page please turn Javascript on. Feature: Multiple Sclerosis Multiple Sclerosis: Symptoms, Diagnosis, Treatment and Latest NIH Research Past Issues / Spring 2012 Table of Contents Symptoms Multiple sclerosis (MS) is an unpredictable disease. MS can range ...

  11. The Danish Multiple Sclerosis Treatment Register

    Directory of Open Access Journals (Sweden)

    Magyari M

    2016-10-01

    Full Text Available Melinda Magyari,1,3 Nils Koch-Henriksen,1,2 Per Soelberg Sørensen3 1Danish Multiple Sclerosis Registry, Department of Neurology, Rigshospitalet, Copenhagen, 2Department of Clinical Epidemiology, Clinical Institute, University of Aarhus, Aarhus, 3Danish Multiple Sclerosis Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark Aim of the database: The Danish Multiple Sclerosis Treatment Register (DMSTR serves as a clinical quality register, enabling the health authorities to monitor the quality of the disease-modifying treatment, and it is an important data source for epidemiological research. Study population: The DMSTR includes all patients with multiple sclerosis who had been treated with disease-modifying drugs since 1996. At present, more than 8,400 patients have been registered in this database. Data are continuously entered online into a central database from all sites in Denmark at start and at regular visits. Main variables: Include age, sex, onset year and year of the diagnosis, basic clinical information, and information about treatment, side effects, and relapses. Descriptive data: Notification is done at treatment start, and thereafter at every scheduled clinical visit 3 months after treatment start, and thereafter every 6 months. The longitudinally collected information about the disease activity and side effects made it possible to investigate the clinical efficacy and adverse events of different disease-modifying therapies. Conclusion: The database contributed to a certain harmonization of treatment procedures in Denmark and will continue to be a major factor in terms of quality in clinical praxis, research and monitoring of adverse events, and plays an important role in research. Keywords: multiple sclerosis, epidemiology, immunomodulatory treatment, neutralizing antibodies, observational studies, registry research, disease modifying therapy

  12. [Multiple sclerosis, loss of functionality and gender].

    Science.gov (United States)

    Bravo-González, Félix; Álvarez-Roldán, Arturo

    2017-12-01

    To identify the type of support and assistance that patients with multiple sclerosis need in order to cope with the loss of functionality, and to show how gender affects the perception of these needs. Interpretative-phenomenological qualitative study. Granada (Spain). Year: 2014. Intentional sample: 30 patients and 20 family caregivers. Data were gathered from 26 interviews and 4 focus groups. The data were coded and analysed with the NVivo programme. The multiple sclerosis patients and family caregivers had different perceptions of the loss of capacity to undertake activities of daily living. Being able to self care was considered the last vestige of autonomy. The women with multiple sclerosis tried to take on the responsibility of housework, but the male caregivers became gradually involved in these tasks. Gender roles were redefined with respect to housekeeping. The multiple sclerosis patients showed a need for emotional support. Some of the men had abandoned the stereotype of the strong male as a result of the decline in their health. Adaptations in the home took place without planning them in advance. The use of mobility devices started on an occasional basis. A fear of stigma was an obstacle for regular use of assistive technology. Health care for people with multiple sclerosis should include family caregivers. Gender influences the perception that caregivers and patients have of the assistance they require to maximise their quality of life. This flags up several intervention areas for the follow-up and long-term care of these patients by the healthcare system. Copyright © 2017 SESPAS. Publicado por Elsevier España, S.L.U. All rights reserved.

  13. Lung volume recruitment in multiple sclerosis.

    Directory of Open Access Journals (Sweden)

    Nadim Srour

    Full Text Available INTRODUCTION: Pulmonary function abnormalities have been described in multiple sclerosis including reductions in forced vital capacity (FVC and cough but the time course of this impairment is unknown. Peak cough flow (PCF is an important parameter for patients with respiratory muscle weakness and a reduced PCF has a direct impact on airway clearance and may therefore increase the risk of respiratory tract infections. Lung volume recruitment is a technique that improves PCF by inflating the lungs to their maximal insufflation capacity. OBJECTIVES: Our goals were to describe the rate of decline of pulmonary function and PCF in patients with multiple sclerosis and describe the use of lung volume recruitment in this population. METHODS: We reviewed all patients with multiple sclerosis referred to a respiratory neuromuscular rehabilitation clinic from February 1999 until December 2010. Lung volume recruitment was attempted in patients with FVC <80% predicted. Regular twice daily lung volume recruitment was prescribed if it resulted in a significant improvement in the laboratory. RESULTS: There were 79 patients included, 35 of whom were seen more than once. A baseline FVC <80% predicted was present in 82% of patients and 80% of patients had a PCF insufficient for airway clearance. There was a significant decline in FVC (122.6 mL/y, 95% CI 54.9-190.3 and PCF (192 mL/s/y, 95% 72-311 over a median follow-up time of 13.4 months. Lung volume recruitment was associated with a slower decline in FVC (p<0.0001 and PCF (p = 0.042. CONCLUSION: Pulmonary function and cough decline significantly over time in selected patients with multiple sclerosis and lung volume recruitment is associated with a slower rate of decline in lung function and peak cough flow. Given design limitations, additional studies are needed to assess the role of lung volume recruitment in patients with multiple sclerosis.

  14. Fructose Malabsorption in Systemic Sclerosis.

    Science.gov (United States)

    Marie, Isabelle; Leroi, Anne-Marie; Gourcerol, Guillaume; Levesque, Hervé; Ménard, Jean-François; Ducrotte, Philippe

    2015-09-01

    The deleterious effect of fructose, which is increasingly incorporated in many beverages, dairy products, and processed foods, has been described; fructose malabsorption has thus been reported in up to 2.4% of healthy subjects, leading to digestive clinical symptoms (eg, pain, distension, diarrhea). Because digestive involvement is frequent in patients with systemic sclerosis (SSc), we hypothesized that fructose malabsorption could be responsible for intestinal manifestations in these patients. The aims of this prospective study were to: determine the prevalence of fructose malabsorption, in SSc; predict which SSc patients are at risk of developing fructose malabsorption; and assess the outcome of digestive symptoms in SSc patients after initiation of standardized low-fructose diet. Eighty consecutive patients with SSc underwent fructose breath test. All SSc patients also completed a questionnaire on digestive symptoms, and a global symptom score (GSS) was calculated. The prevalence of fructose malabsorption was as high as 40% in SSc patients. We also observed a marked correlation between the presence of fructose malabsorption and: higher values of GSS score of digestive symptoms (P = 0.000004); and absence of delayed gastric emptying (P = 0.007). Furthermore, in SSc patients with fructose malabsorption, the median value of GSS score of digestive symptoms was lower after initiation of standardized low-fructose diet (4 before vs. 1 after; P = 0.0009). Our study underscores that fructose malabsorption often occurs in SSc patients. Our findings are thus relevant for clinical practice, highlighting that fructose breath test is a helpful, noninvasive method by: demonstrating fructose intolerance in patients with SSc; and identifying the group of SSc patients with fructose intolerance who may benefit from low-fructose diet. Interestingly, because the present series also shows that low-fructose diet resulted in a marked decrease of gastrointestinal clinical manifestations

  15. [Multiple sclerosis: etiology, epidemiology, some questions of pathogenicity].

    Science.gov (United States)

    Chuprina, H M

    2012-01-01

    In the article the questions of ways of development of the dissipated sclerosis, as nosologies, are affected from the group of autoimmune diseases. Examined etiology, epidedemiologiya, separate links of pathogeny of the dissipated sclerosis. The analysis of multifaktors of his origin is conducted, with the detailed study of internal and external factors, marked on the important role of inherited predisposition, infectious and klimato-geograficheskogo factors in genesis of the dissipated sclerosis.

  16. Intranasal Insulin for Improving Cognitive Function in Multiple Sclerosis

    Science.gov (United States)

    2017-10-01

    AWARD NUMBER: W81XWH-16-1-0693 TITLE: Intranasal Insulin for Improving Cognitive Function in Multiple Sclerosis PRINCIPAL INVESTIGATOR...TITLE AND SUBTITLE Intranasal Insulin for Improving Cognitive Function in Multiple Sclerosis 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c. PROGRAM ELEMENT...dysfunction is common and devastating to people with multiple sclerosis (MS). To date, multiple pharmacologic interventions have been tried for MS

  17. Supratentorial lesions contribute to trigeminal neuralgia in multiple sclerosis.

    Science.gov (United States)

    Fröhlich, Kilian; Winder, Klemens; Linker, Ralf A; Engelhorn, Tobias; Dörfler, Arnd; Lee, De-Hyung; Hilz, Max J; Schwab, Stefan; Seifert, Frank

    2017-01-01

    Background It has been proposed that multiple sclerosis lesions afflicting the pontine trigeminal afferents contribute to trigeminal neuralgia in multiple sclerosis. So far, there are no imaging studies that have evaluated interactions between supratentorial lesions and trigeminal neuralgia in multiple sclerosis patients. Methods We conducted a retrospective study and sought multiple sclerosis patients with trigeminal neuralgia and controls in a local database. Multiple sclerosis lesions were manually outlined and transformed into stereotaxic space. We determined the lesion overlap and performed a voxel-wise subtraction analysis. Secondly, we conducted a voxel-wise non-parametric analysis using the Liebermeister test. Results From 12,210 multiple sclerosis patient records screened, we identified 41 patients with trigeminal neuralgia. The voxel-wise subtraction analysis yielded associations between trigeminal neuralgia and multiple sclerosis lesions in the pontine trigeminal afferents, as well as larger supratentorial lesion clusters in the contralateral insula and hippocampus. The non-parametric statistical analysis using the Liebermeister test yielded similar areas to be associated with multiple sclerosis-related trigeminal neuralgia. Conclusions Our study confirms previous data on associations between multiple sclerosis-related trigeminal neuralgia and pontine lesions, and showed for the first time an association with lesions in the insular region, a region involved in pain processing and endogenous pain modulation.

  18. Steering through complexity: management approaches in multiple sclerosis.

    Science.gov (United States)

    Cree, Bruce A C; Hartung, Hans-Peter

    2016-06-01

    This review evaluates current and late-phase developing therapies for multiple sclerosis in regard to therapeutic efficacy and patient safety in light of recent published and presented observations from 2015. We describe data that provide supportive evidence for comparisons of therapeutic efficacy of multiple sclerosis therapies and review available data on rare but serious adverse events associated with these therapies. Serious adverse events that are sometimes rare and unpredictable may substantially alter current approaches to multiple sclerosis treatments. New therapies that have proved superior effects compared with older therapies will also impact multiple sclerosis treatment practice in the near future.

  19. Cognitive impairment in multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Kutashov V.A.

    2016-06-01

    Full Text Available Aim: to identify the degree of cognitive impairment (CN and to optimize the treatment of patients with multiple sclerosis (MS. Material and methods. A total of 695 patients (278 men and 417 women were ranged from 18 to 63 years. The mean age was 30.2±0.7 years: women (417 28.5±0.5 years, while for men (278 31.8±0.7 years. Relaps-ing-remitting type (RT of MS was established in 520 patients (74.8%, secondary progressive type (VPT MS in 132 patients (18.9% and primary progressive type (PPT MS in 10 patients (1.5%. Clinically isolated syndrome (CIS was detected in 33 patients (4.8%. The diagnosis of MS 662 patients according to the criteria McDonald etal. (2005. Score of neurologic deficit was carried out on an extended scale of disability (Expanded Disability Status Scale — EDSS. CN were evaluated by conventional tests. To estimate the orientation in time, assessment of short-term and long-term memory, attention and concentration, as well as executive functions, memory, language, evaluation of optical-spatial activities, conceptual thinking, the account used by the Montreal Cognitive Assessment Scale (MoCA. For the screening of dementia with a primary lesion of the frontal lobes and subcortical cerebral structures used battery frontal test to assess frontal dysfunction. Results. The ratio of male (265 and female (397 was 1:1.5. The severity of the condition patients EDSS scale ranged from 1.5 to 8.0 points, and the average score was 3.5±1.2. In the group of patients with RT RS average score EDSS was more than a half (2.5±1.1, than in the group of patients with MS VAC (5.5±1.2 and POS PC (6.5±1.2. In the study of history, it was found that the development of the RS (662 patients was preceded by the following conditions: a viral infection in 277 patients (41.84%; fatigue in 147 patients (22.21%; transferred psycho-emotional load from 218 (32.93%; after pregnancy and childbirth in 20 patients (3.02%. Conclusion. Among the patients with MS

  20. Teriflunomide in relapsing multiple sclerosis: therapeutic utility.

    Science.gov (United States)

    Freedman, Mark S

    2013-09-01

    Teriflunomide is an oral, once-daily disease-modifying therapy (DMT) approved in the USA, Australia, and Argentina for the treatment of relapsing forms of multiple sclerosis (RMS). Teriflunomide reversibly limits the expansion of activated T and B cells associated with the inflammatory process purportedly involved in multiple sclerosis pathogenesis, while preserving lymphocytes for routine immune surveillance. In an extensive clinical development program, teriflunomide demonstrated consistent benefits on both clinical and magnetic resonance imaging outcomes. In long-term studies, teriflunomide treatment was associated with low rates of relapse and disability progression for up to 8 years. The safety profile of teriflunomide has been well characterized, with adverse events generally mild to moderate in nature and infrequently leading to permanent treatment discontinuation. The evidence reviewed here indicates that teriflunomide is an effective addition to the current DMTs used to treat RMS.

  1. Type 1 diabetes and multiple sclerosis

    DEFF Research Database (Denmark)

    Nielsen, Nete M; Westergaard, Tine; Frisch, Morten

    2006-01-01

    BACKGROUND: Type 1 diabetes mellitus (T1D) and multiple sclerosis (MS) contribute considerably to the burden of autoimmune diseases in young adults. Although HLA patterns of T1D and MS are considered mutually exclusive, individual and familial co-occurrence of the 2 diseases has been reported...... Multiple Sclerosis Register were used to identify patients with T1D, defined as patients in whom diabetes was diagnosed before age 20 years (N = 6078), and patients with MS (N = 11 862). First-degree relatives (N = 14,771) of patients with MS were identified from family information in the Danish Civil....... OBJECTIVE: To assess the co-occurrence of T1D and MS by estimating the risk for MS in patients with T1D and the risk for T1D in first-degree relatives of patients with MS. DESIGN, SETTING, AND PARTICIPANTS: Two population-based disease registers, the Danish Hospital Discharge Register and the Danish...

  2. Clinically Relevant Imaging in Tuberous Sclerosis

    Directory of Open Access Journals (Sweden)

    Rupa Radhakrishnan

    2011-01-01

    Full Text Available Tuberous sclerosis (TS, also known as Bourneville disease or Bourneville-Pringle disease, is an autosomal dominant genetic disorder classically characterized by the presence of hamartomatous growths in multiple organs. TS and tuberous sclerosis complex (TSC are different terms for the same genetic condition. Both terms describe clinical changes due to mutations involving either of the two genes named TSC1 and TSC2, which regulate cell growth. The diagnosis of TSC is established using diagnostic criteria based on clinical and imaging findings. Routine screening and surveillance of patients with TSC is needed to determine the presence and extent of organ involvement, especially the brain, kidneys, and lungs, and identify the development of associated complications. As the treatment is organ specific, imaging plays a crucial role in the management of patients with TSC.

  3. Esophageal transit scintigraphy in systemic sclerosis.

    Science.gov (United States)

    Chojnowski, Marek; Kobylecka, Małgorzata; Olesińska, Marzena

    2016-01-01

    Systemic sclerosis is a rare connective tissue disease, distinctive features of which are fibrosis and microangiopathy. The esophagus is one of the most commonly involved internal organs. Most patients experience dysphagia, difficulties in swallowing and gastro-esophageal reflux. However, in up to one third of cases, the initial onset of esophageal disease may be clinically silent. There are several diagnostic modalities available for assessing both morphological and functional abnormalities of the esophagus. If structural abnormalities are suspected, endoscopy is the method of choice. Functional evaluation is best achieved with manometry. Both endoscopy and manometry are invasive techniques, with low patient acceptance. Barium-contrast study is well tolerated, but qualitative assessment of functional abnormalities is imprecise. Esophageal scintigraphy is an easy, non-invasive, sensitive and specific diagnostic modality. It can detect esophageal dysfunction even in asymptomatic patients. In patients already diagnosed with systemic sclerosis, scintigraphy is useful in evaluating severity and progression of the disease.

  4. [Large vessels vasculopathy in systemic sclerosis].

    Science.gov (United States)

    Tejera Segura, Beatriz; Ferraz-Amaro, Iván

    2015-12-07

    Vasculopathy in systemic sclerosis is a severe, in many cases irreversible, manifestation that can lead to amputation. While the classical clinical manifestations of the disease have to do with the involvement of microcirculation, proximal vessels of upper and lower limbs can also be affected. This involvement of large vessels may be related to systemic sclerosis, vasculitis or atherosclerotic, and the differential diagnosis is not easy. To conduct a proper and early diagnosis, it is essential to start prompt appropriate treatment. In this review, we examine the involvement of large vessels in scleroderma, an understudied manifestation with important prognostic and therapeutic implications. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

  5. The Danish Multiple Sclerosis Treatment Register

    DEFF Research Database (Denmark)

    Magyari, Melinda; Koch-Henriksen, Nils; Sørensen, Per Soelberg

    2016-01-01

    Aim of the database: The Danish Multiple Sclerosis Treatment Register (DMSTR) serves as a clinical quality register, enabling the health authorities to monitor the quality of the diseasemodifying treatment, and it is an important data source for epidemiological research. Study population: The DMSTR...... includes all patients with multiple sclerosis who had been treated with disease-modifying drugs since 1996. At present, more than 8,400 patients have been registered in this database. Data are continuously entered online into a central database from all sites in Denmark at start and at regular visits. Main...... variables: Include age, sex, onset year and year of the diagnosis, basic clinical information, and information about treatment, side effects, and relapses. Descriptive data: Notification is done at treatment start, and thereafter at every scheduled clinical visit 3 months after treatment start...

  6. Musical identity of patients with multiple sclerosis.

    Science.gov (United States)

    Moreira, Shirlene Vianna; França, Cecília Cavalieri; Moreira, Marcos Aurélio; Lana-Peixoto, Marco Aurélio

    2009-03-01

    Musical autobiographies consist of a powerful therapeutic tool by which individuals define themselves. The use of this technique may help (re)construction personal identities and improve quality of life of patients with multiple sclerosis (MS). Eight adult patients on treatment at CIEM Multiple Sclerosis Investigation Center after selecting 10 to 15 pieces of music most significant in their lives were interviewed. The data collected were classified according to Even Rudd categories, which reveal how a person expresses his personal, social, temporal and transpersonal identities. We observed that recall of musical history makes MS patients get better perception both of their feelings and body awareness, as well as provide them with an alternative way to express themselves, activate and contextualize affective memories, and achieving a sense of life continuity in spite of the disease.

  7. SOME NEUROCHEMICAL DISTURBANCES IN MULTIPLE SCLEROSIS

    Directory of Open Access Journals (Sweden)

    Vladimir V. Markelov

    2006-04-01

    Full Text Available ABSTRACTThe data presented in this manuscript suggest a pivotal role of the central nervous system (CNS in the regulation of immune status. We describe here that some neurochemical disturbances may provoke development of various diseases including multiple sclerosis. Some theoretic and practical backgrounds, how to improve the multiple sclerosis sufferers and patients with other autoimmune disorders, are also given.RESUMENLos datos que presentamos en este manuscrito, sugieren un papel guia del sistema nervioso central (SNC en la regulación del estado inmune. Describimos aquí que varias alteraciones neuroquímicas pueden provocar el desarrollo de varias enfermedades, incluyendo esclerosis múltiple. También se comenta acerca del trasfondo teórico y práctico, y cómo mejorar a víctimas y pacientes con esclerosis múltiple y otras alteraciones autoinmunes.

  8. Primary sclerosing cholangitis associated with systemic sclerosis.

    Science.gov (United States)

    Fraile, G; Rodríguez-García, J L; Moreno, A

    1991-02-01

    Primary sclerosing cholangitis is a chronic inflammatory fibrotic disorder strongly associated with inflammatory bowel disease. Although an association between some inflammatory fibrotic conditions, such as Riedel's thyroiditis and retroperitoneal fibrosis and primary sclerosing cholangitis has been described, to our knowledge there are no reports of primary sclerosing cholangitis in patients with systemic sclerosis. A patient with this combination of conditions is presented and the possible significance of the association discussed.

  9. Primary sclerosing cholangitis associated with systemic sclerosis.

    OpenAIRE

    Fraile, G.; Rodríguez-García, J. L.; Moreno, A.

    1991-01-01

    Primary sclerosing cholangitis is a chronic inflammatory fibrotic disorder strongly associated with inflammatory bowel disease. Although an association between some inflammatory fibrotic conditions, such as Riedel's thyroiditis and retroperitoneal fibrosis and primary sclerosing cholangitis has been described, to our knowledge there are no reports of primary sclerosing cholangitis in patients with systemic sclerosis. A patient with this combination of conditions is presented and the possible ...

  10. Amyloid PET in pseudotumoral multiple sclerosis.

    Science.gov (United States)

    Matías-Guiu, Jordi A; Cabrera-Martín, María Nieves; Cortés-Martínez, Ana; Pytel, Vanesa; Moreno-Ramos, Teresa; Oreja-Guevara, Celia; Carreras, José Luis; Matías-Guiu, Jorge

    2017-07-01

    Pseudotumoral multiple sclerosis is a rare form of demyelinating disease of the central nervous system. Positron emission tomography (PET) using amyloid-tracers has also been suggested as a marker of damage in white matter lesions in multiple sclerosis due to the nonspecific uptake of these tracers in white matter. We present the case of a 59 year-old woman with a pathological-confirmed pseudotumoral multiple sclerosis, who was studied with the amyloid tracer (18)F-florbetaben. The patient had developed word-finding difficulties and right hemianopia twelve years ago. In that time, MRI showed a lesion on the left hemisphere with an infiltrating aspect in frontotemporal lobes. Brain biopsy showed demyelinating areas and inflammation. During the following years, two new clinical relapses occurred. (18)F-florbetaben PET showed lower uptake in the white matter lesion visualized in the CT and MRI images. Decreased tracer uptake was also observed in a larger area of the left hemisphere beyond the lesions observed on MRI or CT. White matter lesion volume on FLAIR was 44.2mL, and tracer uptake change between damaged white matter and normal appearing white matter was - 40.5%. Standardized uptake value was inferior in the pseudotumoral lesion than in the other white matter lesions. We report the findings of amyloid PET in a patient with pseudotumoral multiple sclerosis. This case provides further evidence on the role of amyloid PET in the assessment of white matter and demyelinating diseases. Copyright © 2017 Elsevier B.V. All rights reserved.

  11. Noise in multiple sclerosis: unwanted and necessary

    OpenAIRE

    Bordi, Isabella; Ricigliano, Vito A. G.; Umeton, Renato; Ristori, Giovanni; Grassi, Francesca; Crisanti, Andrea; Sutera, Alfonso; Salvetti, Marco

    2014-01-01

    As our knowledge about the etiology of multiple sclerosis (MS) increases, deterministic paradigms appear insufficient to describe the pathogenesis of the disease, and the impression is that stochastic phenomena (i.e. random events not necessarily resulting in disease in all individuals) may contribute to the development of MS. However, sources and mechanisms of stochastic behavior have not been investigated and there is no proposed framework to incorporate nondeterministic processes into dise...

  12. Connective tissue diseases mimicking multiple sclerosis

    OpenAIRE

    Maryam Moghaddassi-Jahromi; Mohammad-Ali Sahraian

    2011-01-01

    Background: Connective tissue diseases (CTD) can involve nervous system. Diagnosis and differentiation from multiple sclerosis (MS) can be difficult especially when the disease presented by symptoms and signs related to demyelinating process. The aim of this article is to review the variant forms of central nervous system involvement in CTD especially useful points for differentiation from demyelinating disorders. Materials and Method: We used the relevant articles in PUBMED, Scopus and other...

  13. Psychotherapy with multiple-sclerosis patients.

    Science.gov (United States)

    Langenmayr, A; Schöttes, N

    2000-04-01

    We wanted to find out if psychotherapy may influence the course of the physical aspects of multiple sclerosis and the consequences of psychotherapy for coping processes. 46 patients diagnosed with multiple sclerosis who had chosen to undergo a 1-yr. group psychotherapy treatment were compared with a control group of 24 multiple-sclerosis patients without such treatment. They were given the Giessen test (personality test), the Achievement Capacities Questionnaire by Kesselring, an intensive interview as well as the content analysis scales of verbal behavior by Gottschalk and Gleser. The various tests were carried out at each of four times of measurement with a 2-yr. follow-up. There were significant changes in the area of relationships and aggressive loosening (interview) between the Therapy and Control groups. Several changes were also found with regard to physical symptoms (Achievement Capacities Questionnaire) in the Therapy group compared to the Control group, e.g., increases in physical mobility and decreases in care of the body. The decreases appear to be a known effect of therapy with psychosomatic disorders. We interpret it psychoanalytically as resistance against releasing anxiety of counter-cathected motives which multiple sclerosis helps to keep unconscious. In a follow-up, the Therapy group showed greater optimism and physical improvements, e.g., decrease in feeling cold and lack of energy. Some positive changes appeared in both groups, such as, for example, an improvement of cognitive impairment (Gottschalk & Gleser). It appears that the attention from the research itself may have affected both groups because some members of both groups were in contact and hence the Control group was also informed about the research project and its underlying hypothesis.

  14. Gray matter pathology and multiple sclerosis.

    Science.gov (United States)

    Wegner, Christiane; Stadelmann, Christine

    2009-09-01

    Gray matter demyelination is frequent and extensive in most patients with multiple sclerosis (MS) and has recently received much attention in neuropathologic and imaging studies. Gray matter lesions show distinct pathologic features that make their detection difficult with conventional imaging techniques. Thus, despite their high prevalence, their impact on clinical symptoms has not been defined well so far. This review focuses on recent information from pathologic and imaging studies and summarizes our current knowledge on cortical pathology derived from human and experimental studies.

  15. Evaluation and management of amyotrophic lateral sclerosis.

    Science.gov (United States)

    Valadi, Nojan

    2015-06-01

    Motor neuron diseases can cause progressive impairment of voluntary muscles of movement, respiration, speech, and swallowing. This review discusses the most common motor neuron disease, amyotrophic lateral sclerosis (ALS). It reviews the evaluation, diagnosis, and management of ALS, and its epidemiology, pathophysiology, and management. A coordinated approach by the primary care physician and neurologist is necessary with a focus on treatment options, durable medical equipment needs, and end-of-life discussions. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Psychiatric disorders prior to amyotrophic lateral sclerosis

    OpenAIRE

    Turner, M.; Goldacre, R; Talbot, K; Goldacre, MJ

    2016-01-01

    It is recognized that neuropsychiatric conditions are overrepresented in amyotrophic lateral sclerosis (ALS) patient kindreds and psychiatric symptoms may precede the onset of motor symptoms. Using a hospital record linkage database, hospitalization with a diagnosis of schizophrenia, bipolar disorder, depression, or anxiety was significantly associated with a first diagnosis of ALS within the following year. This is likely to specifically reflect the clinicopathological overlap of ALS with fr...

  17. Genetics of primary progressive multiple sclerosis

    OpenAIRE

    Cree, BAC

    2014-01-01

    Multiple sclerosis (MS) patients are classified as either having relapsing onset or progressive onset disease, also known as primary progressive MS (PPMS). Relative to relapsing onset patients, PPMS patients are older at disease onset, are equally likely to be men or women, and have more rapid accumulation of disability that does not respond well to treatments used in relapsing onset MS. Although estimates vary, 5-15% of all MS patients have a PPMS disease course. Genetic variance is a propos...

  18. Update in vitamin D and multiple sclerosis

    OpenAIRE

    Alharbi, Fatimah M.

    2015-01-01

    Multiple sclerosis (MS) is a common neurological disease, and its etiology remains unknown. In recent years, increasing attention has been paid to the possible association between MS and vitamin D deficiency. Here, we review the current literature between MS and vitamin D, showing clear evidence that vitamin D deficiency is a risk factor for MS despite the lack of direct evidence for the effects of vitamin D in MS progression.

  19. Mining gene expression data of multiple sclerosis.

    Directory of Open Access Journals (Sweden)

    Pi Guo

    Full Text Available Microarray produces a large amount of gene expression data, containing various biological implications. The challenge is to detect a panel of discriminative genes associated with disease. This study proposed a robust classification model for gene selection using gene expression data, and performed an analysis to identify disease-related genes using multiple sclerosis as an example.Gene expression profiles based on the transcriptome of peripheral blood mononuclear cells from a total of 44 samples from 26 multiple sclerosis patients and 18 individuals with other neurological diseases (control were analyzed. Feature selection algorithms including Support Vector Machine based on Recursive Feature Elimination, Receiver Operating Characteristic Curve, and Boruta algorithms were jointly performed to select candidate genes associating with multiple sclerosis. Multiple classification models categorized samples into two different groups based on the identified genes. Models' performance was evaluated using cross-validation methods, and an optimal classifier for gene selection was determined.An overlapping feature set was identified consisting of 8 genes that were differentially expressed between the two phenotype groups. The genes were significantly associated with the pathways of apoptosis and cytokine-cytokine receptor interaction. TNFSF10 was significantly associated with multiple sclerosis. A Support Vector Machine model was established based on the featured genes and gave a practical accuracy of ∼86%. This binary classification model also outperformed the other models in terms of Sensitivity, Specificity and F1 score.The combined analytical framework integrating feature ranking algorithms and Support Vector Machine model could be used for selecting genes for other diseases.

  20. Alemtuzumab for the treatment of multiple sclerosis

    OpenAIRE

    Willis MD; Robertson NP

    2015-01-01

    Mark D Willis, Neil P Robertson Institute of Psychological Medicine and Clinical Neuroscience, Cardiff University, University Hospital of Wales, Heath Park, Cardiff, UK Abstract: Alemtuzumab is an anti-CD52 monoclonal antibody, recently approved for the treatment of active, relapsing multiple sclerosis (MS). Administration of alemtuzumab causes a rapid and dramatic reduction in circulating lymphocytes, with a predictable subsequent pattern of immune reconstitution. Although the precise mode...

  1. The management of amyotrophic lateral sclerosis.

    LENUS (Irish Health Repository)

    Phukan, Julie

    2009-02-01

    The terms amyotrophic lateral sclerosis (ALS) or motor neuron disease (MND) refer to a condition characterized by motor system degeneration with relative preservation of other pathways. Although there have been advances in symptomatic treatment, ALS remains an incurable condition. Advances in ALS management prolong survival but simultaneously raise challenging ethical dilemmas for physicians, patients and their families. Here, we review current practice in the management of ALS including pharmacological treatment, nutritional management, respiratory care, and evolving strategies in the management of cognitive impairment.

  2. Glioblastoma in the setting of tuberous sclerosis.

    Science.gov (United States)

    Reyes, Dennys; Prayson, Richard

    2015-05-01

    Tuberous sclerosis is an autosomal dominant condition commonly manifesting with seizures, mental retardation, cortical tubers and hamartomas. Neoplasms may occasionally arise in this setting with the majority of these tumors being subependymal giant cell astrocytomas (World Health Organization [WHO] grade I). Reports of high grade astrocytic neoplasms arising in patients with tuberous sclerosis are rare. We report a left fronto-parietal mass presenting in a 33-year-old woman with altered mental status and slurred speech. The tumor demonstrated areas of enhancement and was associated with mass effect on CT imaging. The tumor was marked by prominent cellularity, easily identifiable mitotic figures, vascular proliferative changes, necrosis and multinucleated giant cells. A Ki-67 labeling index of greater than 30% was noted. The findings were interpreted as being consistent with a glioblastoma (WHO grade IV). The limited literature on similar cases of malignant gliomas arising in the setting of tuberous sclerosis are reviewed. Few reports of similar tumors have been described in the literature. Presentation appears to depend on where the tumor is situated; locations have been variable in previous reports. For those cases in which survival data were included, the prognosis is poor. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. Urinary tract infections in multiple sclerosis.

    Science.gov (United States)

    Phé, Véronique; Pakzad, Mahreen; Curtis, Carmel; Porter, Bernadette; Haslam, Collette; Chataway, Jeremy; Panicker, Jalesh N

    2016-06-01

    Urinary tract infections (UTIs) are commonly reported by people with multiple sclerosis (PwMS) and significantly impact quality of life. To provide an overview of the problem of UTIs in PwMS and offer a practical approach for the diagnosis and management. A review of the literature through a Pubmed search up to October 2015 was performed using the following keywords: multiple sclerosis, neurogenic bladder, urinary tract infections, relapse, dipsticks, culture, recurrent and prevention. Noteworthy topics include the definition of a confirmed symptomatic UTI as a positive urine culture defined by >10(5) colony-forming units (CFU)/mL or >10(4) CFU/mL if a urethral catheter urine sample is taken, or any count of bacteria in a suprapubic bladder puncture specimen, both in addition to symptoms including fever, pain, changes in lower urinary tract symptoms or neurological status. Urinalysis is useful to exclude a UTI; however, on its own is insufficient to confirm a UTI, for which urine culture is required. Experts advise asymptomatic UTIs should not be treated except in the context of an acute relapse. From international guidelines, there is no validated strategy to prevent recurrent UTIs in PwMS. This review provides an overview of the diagnosis, treatment and prevention of UTIs in the setting of multiple sclerosis (MS). © The Author(s), 2016.

  4. [Multiple sclerosis in literature, cinema and television].

    Science.gov (United States)

    Collado-Vazquez, S; Carrillo, J M; Cano-de-la-Cuerda, R

    2016-12-16

    Today, the care of patients with multiple sclerosis and those around them represents a clinical and therapeutic challenge for healthcare professionals. The aim of this study is to analyse the appearance of multiple sclerosis in literature, cinema and television, and to reflect upon the image it has in these media. Several representative works that have addressed multiple sclerosis were reviewed, and many of them were seen to offer a very true-to-life vision of the disease. Likewise, a review was also conducted of the most relevant films and TV series that, on occasions, offer the general public a close look at the impact of the disease on patients or relatives, although they are sometimes somewhat exaggerated for the sake of increased dramatic effect and offer a slightly distorted view of reality. Literature largely reflects the real epidemiology, the symptoms and development of the disease, while less attention seems to be given to the diagnostic and therapeutic options open to patients. Cinema and television have offered a correct image but sometimes with the addition of more dramatic effects. It is important for literature, cinema and television to offer a realistic view of this neurological disease so as to make it better known among the public and to help lessen the stigma attached to it.

  5. Fatigue in Multiple Sclerosis: (An update

    Directory of Open Access Journals (Sweden)

    Hossein Zarei

    2007-10-01

    Full Text Available BACKGROUND:To study the dimensions of fatigue in multiple sclerosis, its pathophysiology, the efficacy, tolerability and safety of drug and non-drug treatments and measurement of fatigue. METHODS: Relevant articles from PubMed and Google scholar search engines from January 1987 until September 2006 were studied to compose a short clinical update (not a systematic review and make the required clinical information available for the clinicians. RESULTS: There is evidence that fatigue is very common in all types and stages of multiple sclerosis, but its pathophysiology is not well explained. Consequently, few drug options have been offered for its treatment. Amantadine is the bestknown drug, though its efficacy and duration of action are limited. Pemoline and modafinil are alternatives and have
    some effects on fatigue. DAP (diaminopyridine, ASA (acetylsalicylic acid, methylphenidate and fluoxetine are other possible options but await further confirmation. Neurorehabilitation, regular exercise and cooling are confirmed to be of value in MS treatment. Measurement of fatigue is a complicated issue. At present fatigue does not have a laboratory marker. CONCLUSIONS: The results of this short clinical update provide guidelines for diagnosing MS-related fatigue and differentiating
    it from other similar physical and psychological conditions. It also examines prescription drug options and other therapies for MS patients with fatigue.
    KEYWORDS: Multiple sclerosis, fatigue, pathophysiology, treatment, measurement.

  6. Multiple sclerosis: Pregnancy and women's health issues.

    Science.gov (United States)

    Mendibe Bilbao, M; Boyero Durán, S; Bárcena Llona, J; Rodriguez-Antigüedad, A

    2016-08-18

    The course of multiple sclerosis (MS) is influenced by sex, pregnancy and hormonal factors. To analyse the influence of the above factors in order to clarify the aetiopathogenic mechanisms involved in the disease. We conducted a comprehensive review of scientific publications in the PubMed database using a keyword search for 'multiple sclerosis', 'MS', 'EAE', 'pregnancy', 'hormonal factors', 'treatment', and related terms. We reviewed the advances presented at the meeting held by the European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS) in March 2013 in London, as well as recommendations by international experts. We provide recommendations for counselling and treating women with MS prior to and during pregnancy and after delivery. Current findings on the effects of treatment on the mother, fetus, and newborn are also presented. We issue recommendations for future research in order to address knowledge gaps and clarify any inconsistencies in currently available data. Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  7. Registers of multiple sclerosis in Denmark.

    Science.gov (United States)

    Koch-Henriksen, N; Magyari, M; Laursen, B

    2015-01-01

    There are two nationwide population-based registers for multiple sclerosis (MS) in Denmark. The oldest register is The Danish Multiple Sclerosis Registry (DMSR), which is an epidemiological register for estimation of prevalence and incidence of MS and survival, and for identifying exposures earlier in life that may affect the risk of MS. This register has no systematic follow-up data except for survival. The DMSR has over the years published nationwide incidence- and prevalence data from Denmark and has been involved in a number of 'historical prospective' studies to elucidate the association between a number of different environmental exposures in the past and the subsequent risk of MS. Some of these studies have been able to exonerate suspected risk factors. The other register, the nationwide Danish Multiple Sclerosis Treatment Register, is a follow-up register for all patients who have received disease-modifying treatments since 1996. It has, in particular, contributed to the knowledge of the role of antibodies against the biological drugs used for the treatment of MS. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. The genetic aspects of multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Sawcer Stephen

    2009-01-01

    Full Text Available The epidemiology of multiple sclerosis has been extensively investigated and two features have consistently emerged: marked geographical variation in prevalence and substantial familial clustering. At first sight, geographic variation would seem to imply an environmental cause for the disease, while familial clustering would seem to suggest that genetic factors have the predominant etiological effect. However, given that geographic variation in prevalence could result from variation in the frequency of genetic risk alleles and that familial clustering might result from shared environmental exposure rather than shared genetic risk alleles, it is clear that these crude inferences are unreliable. Epidemiologists have been resourceful in their attempts to resolve this apparent conflict between "nurture and nature" and have employed a whole variety of sophisticated methods to try and untangle the etiology of multiple sclerosis. The body of evidence that has emerged from these efforts has formed the foundation for decades of research seeking to identify relevant genes and this is the obvious place to start any consideration of the genetics of multiple sclerosis.

  9. Genes and Environment in Multiple Sclerosis project: A platform to investigate multiple sclerosis risk.

    Science.gov (United States)

    Xia, Zongqi; White, Charles C; Owen, Emily K; Von Korff, Alina; Clarkson, Sarah R; McCabe, Cristin A; Cimpean, Maria; Winn, Phoebe A; Hoesing, Ashley; Steele, Sonya U; Cortese, Irene C M; Chitnis, Tanuja; Weiner, Howard L; Reich, Daniel S; Chibnik, Lori B; De Jager, Philip L

    2016-02-01

    The Genes and Environment in Multiple Sclerosis project establishes a platform to investigate the events leading to multiple sclerosis (MS) in at-risk individuals. It has recruited 2,632 first-degree relatives from across the USA. Using an integrated genetic and environmental risk score, we identified subjects with twice the MS risk when compared to the average family member, and we report an initial incidence rate in these subjects that is 30 times greater than that of sporadic MS. We discuss the feasibility of large-scale studies of asymptomatic at-risk subjects that leverage modern tools of subject recruitment to execute collaborative projects. © 2015 American Neurological Association.

  10. Congestive Cardiac Failure in a patient with Systemic Sclerosis ...

    African Journals Online (AJOL)

    TNHJOURNALPH

    BACKGROUND. Systemic sclerosis and other connective tissue diseases are thought to be rare in. Nigerians and are not common causes of heart failure compared to hypertensive heart disease. The presence of cardiac involvement in a patient with systemic sclerosis generally portends poor outcome. We therefore present ...

  11. Preliminary criteria for the very early diagnosis of systemic sclerosis

    DEFF Research Database (Denmark)

    Avouac, J; Fransen, Julie Munk; Walker, U A

    2011-01-01

    To identify a core set of preliminary items considered as important for the very early diagnosis of systemic sclerosis (SSc).......To identify a core set of preliminary items considered as important for the very early diagnosis of systemic sclerosis (SSc)....

  12. Identification of epileptogenic tubers in patients with tuberous sclerosis complex

    NARCIS (Netherlands)

    Jansen, F.E.

    2007-01-01

    Identification of epileptogenic tubers in patients with tuberous sclerosis complex Tuberous sclerosis complex (TSC) is associated with epilepsy and mental retardation. The principal aim of this thesis was to identify epileptogenic tuber(s) enabling the selection of patients for epilepsy surgery. In

  13. Echocardiographic screening results in patients with tuberous sclerosis complex.

    NARCIS (Netherlands)

    Adriaensen, M.E.; Cramer, M.J.; Brouha, M.E.; Schaefer-Prokop, C.M.; Prokop, M.; Doevendans, P.A.; Zonnenberg, B.A.; Feringa, H.H.

    2010-01-01

    We sought to examine the frequency of abnormal echocardiographic findings in patients with tuberous sclerosis complex. In a retrospective cohort study, we included all patients with known tuberous sclerosis complex who had been sent to our cardiology department for echocardiographic screening from

  14. Challenges in the management of a case of tuberous sclerosis

    Directory of Open Access Journals (Sweden)

    Anubhav Rathi

    2012-01-01

    Full Text Available Tuberous sclerosis complex is a multi-system disorder with autosomal dominant inheritance, which can affect the brain, heart, skin, kidneys, lungs, and retina. We hereby report therapeutic challenges faced in a case of an adolescent male suffering from tuberous sclerosis.

  15. The risk of multiple sclerosis in bereaved parents

    DEFF Research Database (Denmark)

    Li, J; Johansen, C; Brønnum-Hansen, Henrik

    2004-01-01

    Previous studies have suggested that psychological stress may play a role in the risk of multiple sclerosis (MS), but the evidence is very limited.......Previous studies have suggested that psychological stress may play a role in the risk of multiple sclerosis (MS), but the evidence is very limited....

  16. Incidence of multiple sclerosis in Denmark 1948-1982

    DEFF Research Database (Denmark)

    Koch-Henriksen, Nils; Brønnum-Hansen, Henrik; Hyllested, K

    1992-01-01

    The incidence rates of multiple sclerosis (MS) in Denmark were estimated as a result of a continuous nationwide epidemiological survey since 1948 by the Danish Multiple Sclerosis Registry (DMSR). Among cases notified to the DMSR, 6,478 met the diagnostic criteria and had onset of MS from 1948...

  17. Are port wines stains a feature of tuberous sclerosis?

    Science.gov (United States)

    Ben-Amitai, D; Halachmi, S; Lapidoth, M

    2011-07-01

    Tuberous sclerosis complex is a multisystem inherited disorder characterized by the development of tumour-like growths in brain, skin and other organs. Although cutaneous vascular anomalies are not considered a common manifestation, we have encountered co-occurrence of port wine stains and tuberous sclerosis. To assess the prevalence of port wine stain in patients with previously diagnosed tuberous sclerosis. All cases diagnosed with tuberous sclerosis at two tertiary care centres from 2000 to 2009 were reviewed. Cases with clinically documented port wine stains were included for evaluation. Of 24 patients diagnosed with tuberous sclerosis, three (12.5%) had clinically evident port wine stains. The prevalence of port wine stains in this series of tuberous sclerosis patients was significantly higher than the 0.3% prevalence of port wine stain in the general population. Port wine stain rate in this population was significantly greater than the expected rate. Further studies are needed to assess the frequency of port wine stains in tuberous sclerosis and to clarify whether the finding should be added to the list of cutaneous features of tuberous sclerosis. © 2010 The Authors. Journal of the European Academy of Dermatology and Venereology © 2010 European Academy of Dermatology and Venereology.

  18. Blindness in Tuberous Sclerosis: A Case Report | Olaosebikan ...

    African Journals Online (AJOL)

    Tuberous sclerosis (TS) is inherited as an autosomal dominant trait with variable penetrance characterised by glial cell tumor which arises from the cerebral and the retina. Blindness in association with Tuberous sclerosis (TS) is rare. When visual loss occurs it may be associated with hamartomas from retinal or optic nerve ...

  19. Disconnection as a Mechanism for Cognitive Dysfunction in Multiple Sclerosis

    Science.gov (United States)

    Dineen, R. A.; Vilisaar, J.; Hlinka, J.; Bradshaw, C. M.; Morgan, P. S.; Constantinescu, C. S.; Auer, D. P.

    2009-01-01

    Disconnection of cognitively important processing regions by injury to the interconnecting white matter provides a potential mechanism for cognitive dysfunction in multiple sclerosis. The contribution of tract-specific white matter injury to dysfunction in different cognitive domains in patients with multiple sclerosis has not previously been…

  20. Congestive cardiac failure in a patient with systemic sclerosis: Case ...

    African Journals Online (AJOL)

    Background: Systemic sclerosis and other connective tissue diseases are thought to be rare in Nigerians and are not common causes of heart failure compared to hypertensive heart disease. The presence of cardiac involvement in a patient with systemic sclerosis generally portends poor outcome. We therefore present a ...

  1. Chemokine receptor CCR5 in interferon-treated multiple sclerosis

    DEFF Research Database (Denmark)

    Sellebjerg, F; Kristiansen, T B; Wittenhagen, P

    2007-01-01

    To study the relationship between CC chemokine receptor CCR5 expression and disease activity in multiple sclerosis (MS) patients treated with beta-interferon (IFN-beta).......To study the relationship between CC chemokine receptor CCR5 expression and disease activity in multiple sclerosis (MS) patients treated with beta-interferon (IFN-beta)....

  2. The management of multiple sclerosis in children: a European view

    DEFF Research Database (Denmark)

    Ghezzi, Angelo; Banwell, Brenda; Boyko, Alexey

    2010-01-01

    in the paediatric multiple sclerosis population has triggered the use of disease-modifying therapies that have been shown to reduce relapse rate, disease progression and cognitive decline in adult patients with multiple sclerosis. Hard evidence for the right treatment and its appropriate timing is scarce......About 3-5% of all patients with multiple sclerosis experience the onset of their disease under the age of 16. A significant proportion of paediatric multiple sclerosis patients develop significant cognitive disturbances and persistent physical disability. The high relapse rate and the morbidity...... in paediatric multiple sclerosis. Nevertheless, expertise in this field has grown thanks to recent open-label trials and experience generated in specialized centres. In spring 2009, a first meeting was held in Rotterdam with clinicians from 11 European countries (one from Canada) that are all active...

  3. [The role of vitamin D in multiple sclerosis].

    Science.gov (United States)

    Kfoczyńska, Medea; Kucharska, Alicja; Sińska, Beata

    2015-04-08

    Multiple sclerosis is a chronic, inflammatory, demyelinating disease which affects the central nervous system and is linked to autoimmune disorders. Although the precise causes of multiple sclerosis remain unknown, some evidence points towards hypovitaminosis D. Apart from the maintenance of calcium and phosphorus homeostasis, vitamin D also plays a major role in other aspects of human health. It is caused by the vitamin D receptor, which is present in many human organs and tissues. Vitamin D is an immunomodulating factor and accordingly has a potential to be effective in both preventing and treating autoimmune diseases, including multiple sclerosis. The aim of this review was to present up-to-date knowledge about vitamin D, especially its impact on risk of multiple sclerosis onset, relapses, and potential to modify the immune response. A further objective was to describe the role of vitamin D supplementation and its provision in the everyday diet for both prevention and treatment of multiple sclerosis.

  4. [Current aspects of therapy conversion for multiple sclerosis].

    Science.gov (United States)

    Kolber, P; Luessi, F; Meuth, S G; Klotz, L; Korn, T; Trebst, C; Tackenberg, B; Kieseier, B; Kümpfel, T; Fleischer, V; Tumani, H; Wildemann, B; Lang, M; Flachenecker, P; Meier, U; Brück, W; Limmroth, V; Haghikia, A; Hartung, H-P; Stangel, M; Hohlfeld, R; Hemmer, B; Gold, R; Wiendl, H; Zipp, F

    2015-10-01

    In recent years the approval of new substances has led to a substantial increase in the number of course-modifying immunotherapies available for multiple sclerosis. Therapy conversion therefore represents an increasing challenge. The treatment options sometimes show complex adverse effect profiles and necessitate a long-term and comprehensive monitoring. This article presents an overview of therapy conversion of immunotherapies for multiple sclerosis in accordance with the recommendations of the Disease-Related Competence Network for Multiple Sclerosis and the German Multiple Sclerosis Society as well as the guidelines on diagnostics and therapy for multiple sclerosis of the German Society of Neurology and the latest research results. At the present point in time it should be noted that no studies have been carried out for most of the approaches for therapy conversion given here; however, the recommendations are based on theoretical considerations and therefore correspond to recommendations at the level of expert consensus, which is currently essential for the clinical daily routine.

  5. Urticarial vasculitis appearing in the progression of systemic sclerosis.

    Science.gov (United States)

    Kato, Yoko; Aoki, Mikako; Kawana, Seiji

    2006-11-01

    We report a case of urticarial vasculitis that appeared during the course of limited cutaneous systemic sclerosis. The urticarial lesions responded to systemic administration of prednisolone. After the appearance of urticarial vasculitis, the progression of scleroderma in distal sites of her elbow and knee joint became apparent. We consider this case to be consistent with limited cutaneous systemic sclerosis. The patient started treatment with prednisolone and her edema as well as scleroderma softened gradually. We analyzed, by immunohistochemistry, the number of tryptase-positive mast cells of this case in the lesions of urticarial vasculitis as well as systemic sclerosis. The number of tryptase-positive mast cells in the lesions of urticarial vasculitis as well as systemic sclerosis was significantly increased compared to normal skin (P urticarial vasculitis and systemic sclerosis as a common factor.

  6. High-fat and ketogenic diets in amyotrophic lateral sclerosis.

    Science.gov (United States)

    Paganoni, Sabrina; Wills, Anne-Marie

    2013-08-01

    Amyotrophic lateral sclerosis is a fatal neurodegenerative disease. Epidemiologic data suggest that malnutrition is a common feature in amyotrophic lateral sclerosis and being overweight or obese confers a survival advantage in this patient population. In amyotrophic lateral sclerosis mouse models, a high-fat diet has been shown to lead to weight gain and prolonged survival. However, little research has been conducted to test whether nutritional interventions might ameliorate the disease course in humans. Here we review the currently available evidence supporting the potential role of dietary interventions as a therapeutic tool for amyotrophic lateral sclerosis. Ultimately, determining whether a high-fat or ketogenic diet could be beneficial in amyotrophic lateral sclerosis will require large randomized, placebo-controlled clinical trials.

  7. The management of multiple sclerosis in children: a European view

    DEFF Research Database (Denmark)

    Ghezzi, Angelo; Banwell, Brenda; Boyko, Alexey

    2010-01-01

    About 3-5% of all patients with multiple sclerosis experience the onset of their disease under the age of 16. A significant proportion of paediatric multiple sclerosis patients develop significant cognitive disturbances and persistent physical disability. The high relapse rate and the morbidity...... in the paediatric multiple sclerosis population has triggered the use of disease-modifying therapies that have been shown to reduce relapse rate, disease progression and cognitive decline in adult patients with multiple sclerosis. Hard evidence for the right treatment and its appropriate timing is scarce...... in paediatric multiple sclerosis. Nevertheless, expertise in this field has grown thanks to recent open-label trials and experience generated in specialized centres. In spring 2009, a first meeting was held in Rotterdam with clinicians from 11 European countries (one from Canada) that are all active...

  8. The role of vitamin D in multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Medea Kfoczyńska

    2015-04-01

    Full Text Available Multiple sclerosis is a chronic, inflammatory, demyelinating disease which affects the central nervous system and is linked to autoimmune disorders. Although the precise causes of multiple sclerosis remain unknown, some evidence points towards hypovitaminosis D. Apart from the maintenance of calcium and phosphorus homeostasis, vitamin D also plays a major role in other aspects of human health. It is caused by the vitamin D receptor, which is present in many human organs and tissues. Vitamin D is an immunomodulating factor and accordingly has a potential to be effective in both preventing and treating autoimmune diseases, including multiple sclerosis. The aim of this review was to present up-to-date knowledge about vitamin D, especially its impact on risk of multiple sclerosis onset, relapses, and potential to modify the immune response. A further objective was to describe the role of vitamin D supplementation and its provision in the everyday diet for both prevention and treatment of multiple sclerosis.

  9. Hippocampal sclerosis and chronic epilepsy following posterior reversible encephalopathy syndrome.

    Science.gov (United States)

    Kapina, Viktoria; Vargas, Maria-Isabel; Wohlrab, Gabriele; Vulliemoz, Serge; Fluss, Joel; Seeck, Margitta

    2013-12-01

    Chronic epilepsy has rarely been reported after posterior reversible encephalopathy syndrome (PRES) and the association with hippocampal sclerosis has been suggested only once before. We report the case of a girl admitted at the age of 8 years with idiopathic nephrotic syndrome. On the second day of admission, she presented with focal complex seizures and cerebral MRI showed posterior encephalopathy and no hippocampal sclerosis. MRI after one month confirmed the diagnosis of PRES. The seizures recurred and the girl developed pharmacoresistant epilepsy and was admitted to our hospital for further investigation. Cerebral MRI three years after the diagnosis of PRES showed hippocampal sclerosis which was not present on the initial MRI. We conclude that there is a triggering role of PRES in the development of hippocampal sclerosis. Hippocampal sclerosis may have resulted from seizure-associated damage, alternatively, hypertensive encephalopathy may have led to hippocampal damage via a vascular mechanism.

  10. ▼Teriflunomide for multiple sclerosis.

    Science.gov (United States)

    2014-07-01

    ▼Teriflunomide (Aubagio-Genzyme Therapeutics), the main metabolite of the disease-modifying anti-rheumatic drug leflunomide,1 is an immunomodulatory agent with anti-inflammatory properties.2 It is a new oral treatment licensed for adults with relapsing-remitting multiple sclerosis. Here we discuss the evidence for its effectiveness and safety, and consider its place in therapy. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  11. Work Disability in Early Systemic Sclerosis

    DEFF Research Database (Denmark)

    Sandqvist, Gunnel; Hesselstrand, Roger; Petersson, Ingemar F

    2015-01-01

    OBJECTIVE: To study work disability (WD) with reference to levels of sick leave and disability pension in early systemic sclerosis (SSc). METHODS: Patients with SSc living in the southern part of Sweden with onset of their first non-Raynaud symptom between 2003 and 2009 and with a followup of 36...... months were included in a longitudinal study. Thirty-two patients (26 women, 24 with limited SSc) with a median age of 47.5 years (interquartile range 43-53) were identified. WD was calculated in 30-day intervals from 12 months prior to disease onset until 36 months after, presented as the prevalence...

  12. Stem cell therapy for amyotrophic lateral sclerosis

    Directory of Open Access Journals (Sweden)

    Zhijuan Mao

    2015-01-01

    Full Text Available Amyotrophic lateral sclerosis (ALS is a fatal neurodegenerative disorder characterized by the loss of motor neurons. Currently, no effective therapy is available to treat ALS, except for Riluzole, which has only limited clinical benefits. Stem-cell-based therapy has been intensively and extensively studied as a potential novel treatment strategy for ALS and has been shown to be effective, at least to some extent. In this article, we will review the current state of research on the use of stem cell therapy in the treatment of ALS and discuss the most promising stem cells for the treatment of ALS.

  13. Is Multiple Sclerosis an Autoimmune Disease?

    Directory of Open Access Journals (Sweden)

    Bharath Wootla

    2012-01-01

    Full Text Available Multiple sclerosis (MS is an inflammatory demyelinating disease of the central nervous system (CNS with varied clinical presentations and heterogeneous histopathological features. The underlying immunological abnormalities in MS lead to various neurological and autoimmune manifestations. There is strong evidence that MS is, at least in part, an immune-mediated disease. There is less evidence that MS is a classical autoimmune disease, even though many authors state this in the description of the disease. We show the evidence that both supports and refutes the autoimmune hypothesis. In addition, we present an alternate hypothesis based on virus infection to explain the pathogenesis of MS.

  14. Capillaroscopy 2016: new perspectives in systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Carmen Pizzorni

    2016-01-01

    Full Text Available Systemic sclerosis (SSc is an autoimmune disorder of unknown aetiology characterized by early impairment of the microvascular system. Nailfold microangiopathy and decreased peripheral blood perfusion are typical clinical aspects of SSc. The best method to evaluate vascular injury is nailfold videocapillaroscopy, which detects peripheral capillary morphology, and classifies and scores the abnormalities into different patterns of microangiopathy. Microangiopathy appears to be the best evaluable predictor of the disease development and has been observed to precede the other symptoms by many years. Peripheral blood perfusion is also impaired in SSc, and there are different methods to assess it: laser Doppler and laser speckle techniques, thermography and other emerging techniques.

  15. Onset symptoms in paediatric multiple sclerosis

    DEFF Research Database (Denmark)

    Boesen, Magnus Spangsberg; Sellebjerg, Finn; Blinkenberg, Morten

    2014-01-01

    INTRODUCTION: Paediatric multiple sclerosis (MS) carries a relatively higher mortality and morbidity than adult MS. Paediatric MS symptoms and paraclinical findings at the first demyelinating event have never before been characterised in a Danish setting. The aim of this study was to compare...... and the mean time to MS diagnosis was 1.7 years. The majority of children had sensory symptoms (47%; 95% confidence interval (CI): 23-72%) or optic neuritis (35%; CI: 14-62%) as their presenting symptoms. These results did not differ from the findings in adult MS subjects. Pleocytosis was present in 93% (CI...

  16. Ultraviolet radiation, vitamin D and multiple sclerosis.

    Science.gov (United States)

    Lucas, Robyn M; Byrne, Scott N; Correale, Jorge; Ilschner, Susanne; Hart, Prue H

    2015-10-01

    There is compelling epidemiological evidence that the risk of developing multiple sclerosis is increased in association with low levels of sun exposure, possibly because this is associated with low vitamin D status. Recent work highlights both vitamin D and non-vitamin D effects on cellular immunity that suggests that higher levels of sun exposure and/or vitamin D status are beneficial for both MS risk and in ameliorating disease progression. Here we review this recent evidence, focusing on regulatory cells, dendritic cells, and chemokines and cytokines released from the skin following exposure to ultraviolet radiation.

  17. Multiple sclerosis care in Latin America

    OpenAIRE

    Rivera, Victor M.; Medina, Marco Tulio; Duron, Reyna M.; Macias, Miguel Angel

    2014-01-01

    Before the advent of diagnostic criteria for multiple sclerosis (MS), it was reported that the prevalence of MS in Mexico was “one of the lowest in the world” (1.6/100,000).1 The notion that MS was a rare neurologic disease among those living in the tropics of the Americas and Southern latitudes was widely accepted. The geopolitical boundaries of the region identified as Latin America (LA) extend from the southern border of United States with Mexico (32° North latitude) to the Argentinian and...

  18. Monthly distribution of multiple sclerosis patients' births

    Science.gov (United States)

    Bharanidharan, Padmanabhan

    As part of an integrated geographical and environmental epidemiological study of multiple sclerosis (MS) in Budapest's Pesterzsébet district, many biometeorological variables were specifically examined. Also, the monthly distribution of birthdates of MS patients resident in the district was plotted. Patients reliably diagnosed with MS were found to have been born in greater numbers in the months of April and October, precisely 6 months apart. This finding indicates the presence of natural non-genetic factors in the creation of MS susceptibility, affecting the nervous system at the crucial time of myelination.

  19. Paroxysmal ataxia and dysarthria in multiple sclerosis.

    Science.gov (United States)

    Iorio, R; Capone, F; Plantone, D; Batocchi, A P

    2014-01-01

    Paroxysmal ataxia and dysarthria are part of the spectrum of transient neurological disturbances that can be frequently encountered in multiple sclerosis (MS). Prompt recognition of these symptoms is important because they can be the only manifestation of a MS relapse and symptomatic therapy is often beneficial. We report a patient who developed paroxysmal ataxia and dysarthria, documented by video imaging, while he was recovering from a MS relapse. Treatment with carbamazepine resulted in the complete reversal of the paroxysmal ataxia and dysarthria. Copyright © 2013 Elsevier Ltd. All rights reserved.

  20. Quantifying Disease Progression in Amyotrophic Lateral Sclerosis

    Science.gov (United States)

    Simon, Neil G; Turner, Martin R; Vucic, Steve; Al-Chalabi, Ammar; Shefner, Jeremy; Lomen-Hoerth, Catherine; Kiernan, Matthew C

    2014-01-01

    Amyotrophic lateral sclerosis (ALS) exhibits characteristic variability of onset and rate of disease progression, with inherent clinical heterogeneity making disease quantitation difficult. Recent advances in understanding pathogenic mechanisms linked to the development of ALS impose an increasing need to develop strategies to predict and more objectively measure disease progression. This review explores phenotypic and genetic determinants of disease progression in ALS, and examines established and evolving biomarkers that may contribute to robust measurement in longitudinal clinical studies. With targeted neuroprotective strategies on the horizon, developing efficiencies in clinical trial design may facilitate timely entry of novel treatments into the clinic. PMID:25223628

  1. Etiology and pathogenesis of multiple sclerosis

    DEFF Research Database (Denmark)

    Sørensen, Torben Lykke; Ransohoff, R M

    1998-01-01

    The cause of multiple sclerosis (MS) remains unknown despite decades of intense research. The major research disciplines that have been brought to bear on this question include genetics, epidemiology, neuropathology, immunology, and virology. Recent advances in the understanding of the inflammatory...... characteristics of the MS lesion may herald the development of specific and effective treatments. The goal of this research is to improve our management of a disease that remains the major cause of neurologic disability among young adults in North America and Europe....

  2. Hematopoietic stem cell transplantation in multiple sclerosis

    DEFF Research Database (Denmark)

    Rogojan, C; Frederiksen, J L

    2009-01-01

    Intensive immunosuppresion followed by hematopoietic stem cell transplantation (HSCT) has been suggested as potential treatment in severe forms of multiple sclerosis (MS). Since 1995 ca. 400 patients have been treated with HSCT. Stabilization or improvement occurred in almost 70% of cases at least...... in restoration of self-tolerance. Relatively young patients with active inflammatory lesions of relatively short duration and rapidly progressive disease, but still low disability scores, unresponsive to conventional therapy seem the best candidates for transplantation. Transplant-related mortality was 6...

  3. Ipsilateral uveitis and optic neuritis in multiple sclerosis.

    Science.gov (United States)

    Thouvenot, Eric; Mura, Frédéric; De Verdal, Marie; Carlander, Bertrand; Charif, Mahmoud; Schneider, Christelle; Navarre, Sophie; Camu, William

    2012-01-01

    Background. Uveitis is 20 times more frequent in multiple sclerosis (MS) patients than in the general population. Methods. A retrospective study of local multiple sclerosis (n = 700) and uveitis cohorts (n = 450) described the ophthalmological and neurological characteristics of patients with multiple sclerosis and uveitis. Results. Uveitis and multiple sclerosis were associated in seven patients. The time intervals between diagnoses of MS and uveitis ranged from 6 months to 15 years. Analysis of the patients' characteristics revealed that multiple sclerosis was associated with an older age of onset than usually expected, that is, 39 years. Uveitis was bilateral in three cases and mainly posterior (5/10). Five patients presented with acute optic neuritis (two in one eye and three in both eyes). All eyes presenting with acute optic neuritis were also affected by uveitis (P = 0.02), though not simultaneously. Conclusion. The ipsilateral association between optic neuritis and uveitis in this series of patients with multiple sclerosis may suggest a reciprocal potentiation between optic neuritis and uveitis in multiple sclerosis.

  4. Ipsilateral Uveitis and Optic Neuritis in Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Eric Thouvenot

    2012-01-01

    Full Text Available Background. Uveitis is 20 times more frequent in multiple sclerosis (MS patients than in the general population. Methods. A retrospective study of local multiple sclerosis (n=700 and uveitis cohorts (n=450 described the ophthalmological and neurological characteristics of patients with multiple sclerosis and uveitis. Results. Uveitis and multiple sclerosis were associated in seven patients. The time intervals between diagnoses of MS and uveitis ranged from 6 months to 15 years. Analysis of the patients’ characteristics revealed that multiple sclerosis was associated with an older age of onset than usually expected, that is, 39 years. Uveitis was bilateral in three cases and mainly posterior (5/10. Five patients presented with acute optic neuritis (two in one eye and three in both eyes. All eyes presenting with acute optic neuritis were also affected by uveitis (P=0.02, though not simultaneously. Conclusion. The ipsilateral association between optic neuritis and uveitis in this series of patients with multiple sclerosis may suggest a reciprocal potentiation between optic neuritis and uveitis in multiple sclerosis.

  5. [Antioxidant use as dietary therapy in patients with multiple sclerosis].

    Science.gov (United States)

    González-González, Laura; Pérez-Cortéz, Jesús Giovanni; Flores-Aldana, Mario; Macías-Morales, Nayeli; Hernández-Girón, Carlos

    2015-01-09

    Multiple sclerosis is an immune-mediated disease that produces chronic inflammation and neural degeneration. The disease progresses with acute attacks that result in myelin inflammation. This in turn increases oxidative stress and favors the appearance of reactive oxygen species. Reactive oxygen species damage neural cells causing apoptosis. The etiology of multiple sclerosis remains unknown and current therapy is aggressive and expensive. Recently, complementary and alternative medicine therapies have been proposed to control pathogenesis and symptoms of this disease. It is believed that these therapies help slow the progression of multiple sclerosis and improve survival. We conducted a MEDLINE/PubMed search using the following MeSH terms: diet, multiple sclerosis, antioxidants. We selected the main articles containing multiple sclerosis and diet. We analyzed three case control studies that evaluated different dietary approaches in multiple sclerosis. For this review, we also included five experimental studies that studied the efficacy of lipoic acid in humans and rodents in diseases like multiple sclerosis, experimental autoimmune encephalomyelitis, and breast cancer.

  6. Prevalence of neuropathic pain in early multiple sclerosis.

    Science.gov (United States)

    Heitmann, Henrik; Biberacher, Viola; Tiemann, Laura; Buck, Dorothea; Loleit, Verena; Selter, Rebecca C; Knier, Benjamin; Tölle, Thomas R; Mühlau, Mark; Berthele, Achim; Hemmer, Bernhard; Ploner, Markus

    2016-08-01

    Pain is considered a frequent symptom in multiple sclerosis. Neuropathic pain is the type of pain most closely related to the pathology of multiple sclerosis and its prevalence estimates vary largely. We prospectively assessed the prevalence of neuropathic pain in patients with early multiple sclerosis and investigated the association of neuropathic pain with other clinical parameters. A total of 377 outpatients with multiple sclerosis at an early disease stage were included in this prospective study. Mean disease duration was 4.2 years, mean Expanded Disability Status Scale (EDSS) score was 1.6, 96.8% of patients were classified as having relapsing-remitting multiple sclerosis. Neuropathic pain was assessed using the PainDETECT questionnaire (PDQ). Depression, fatigue and cognition were assessed using the Beck Depression Inventory (BDI), the Fatigue Scale for Motor and Cognitive Functions (FSMC) and the Paced Auditory Serial Addition Test. PDQ scores indicative of neuropathic pain were found in 4.2% of patients. Regression analysis revealed EDSS, BDI and FMSC scores as strongest predictors of PDQ scores. Neuropathic pain appears to be less frequent in early multiple sclerosis than expected and is significantly associated with disability, depression and fatigue. The assessment and therapy of pain in multiple sclerosis should thus take into account neuropsychiatric symptoms already at early disease stages. © The Author(s), 2015.

  7. Tuberous sclerosis complex: Recent advances in manifestations and therapy.

    Science.gov (United States)

    Wataya-Kaneda, Mari; Uemura, Motohide; Fujita, Kazutoshi; Hirata, Haruhiko; Osuga, Keigo; Kagitani-Shimono, Kuriko; Nonomura, Norio

    2017-09-01

    Tuberous sclerosis complex is an autosomal dominant inherited disorder characterized by generalized involvement and variable manifestations with a birth incidence of 1:6000. In a quarter of a century, significant progress in tuberous sclerosis complex has been made. Two responsible genes, TSC1 and TSC2, which encode hamartin and tuberin, respectively, were discovered in the 1990s, and their functions were elucidated in the 2000s. Hamartin-Tuberin complex is involved in the phosphoinositide 3-kinase-protein kinase B-mammalian target of rapamycin signal transduction pathway, and suppresses mammalian target of rapamycin complex 1 activity, which is a center for various functions. Constitutive activation of mammalian target of rapamycin complex 1 causes variable manifestations in tuberous sclerosis complex. Recently, genetic tests were launched to diagnose tuberous sclerosis complex, and mammalian target of rapamycin complex 1 inhibitors are being used to treat tuberous sclerosis complex patients. As a result of these advances, new diagnostic criteria have been established and an indispensable new treatment method; that is, "a cross-sectional medical examination system," a system to involve many experts for tuberous sclerosis complex diagnosis and treatments, was also created. Simultaneously, the frequency of genetic tests and advances in diagnostic technology have resulted in new views on symptoms. The numbers of tuberous sclerosis complex patients without neural symptoms are increasing, and for these patients, renal manifestations and pulmonary lymphangioleiomyomatosis have become important manifestations. New concepts of tuberous sclerosis complex-associated neuropsychiatric disorders or perivascular epithelioid cell tumors are being created. The present review contains a summary of recent advances, significant manifestations and therapy in tuberous sclerosis complex. © 2017 The Japanese Urological Association.

  8. Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist

    Science.gov (United States)

    de Vries, Petrus J.; Whittemore, Vicky H.; Leclezio, Loren; Byars, Anna W.; Dunn, David; Ess, Kevin C.; Hook, Dena; King, Bryan H.; Sahin, Mustafa; Jansen, Anna

    2015-01-01

    BACKGROUND Tuberous sclerosis complex is a multisystem genetic disorder with a range of physical manifestations that require evaluation, surveillance, and management. Individuals with tuberous sclerosis complex also have a range of behavioral, psychiatric, intellectual, academic, neuropsychologic, and psychosocial difficulties. These may represent the greatest burden of the disease. Around 90% of individuals with tuberous sclerosis complex will have some of these difficulties during their lifetime, yet only about 20% ever receive evaluation and treatment. The Neuropsychiatry Panel at the 2012 Tuberous Sclerosis Complex International Consensus Conference expressed concern about the significant “treatment gap” and about confusion regarding terminology relating to the biopsychosocial difficulties associated with tuberous sclerosis complex. METHODS The Tuberous Sclerosis Complex Neuropsychiatry Panel coined the term TAND—tuberous sclerosis complex-associated neuropsychiatric disorders—to bring together these multidimensional manifestations of the disorder, and recommended annual screening for TAND. In addition, the Panel agreed to develop a TAND Checklist as a guide for screening. RESULTS Here, we present an outline of the conceptualization of TAND, rationale for the structure of the TAND Checklist, and include the full US English version of the TAND Checklist. CONCLUSION We hope that the unified term TAND and the TAND Checklist will raise awareness of the importance of tuberous sclerosis complex-associated neuropsychiatric disorders and of the major burden of disease associated with it, provide a shared language and a simple tool to describe and evaluate the different levels of TAND, alert clinical teams and families or individuals of the importance of screening, assessment, and treatment of TAND, and provide a shared framework for future studies of tuberous sclerosis complex-associated neuropsychiatric disorders. PMID:25532776

  9. What causes amyotrophic lateral sclerosis? [version 1; referees: 3 approved

    Directory of Open Access Journals (Sweden)

    Sarah Martin

    2017-03-01

    Full Text Available Amyotrophic lateral sclerosis is a neurodegenerative disease predominantly affecting upper and lower motor neurons, resulting in progressive paralysis and death from respiratory failure within 2 to 3 years. The peak age of onset is 55 to 70 years, with a male predominance. The causes of amyotrophic lateral sclerosis are only partly known, but they include some environmental risk factors as well as several genes that have been identified as harbouring disease-associated variation. Here we review the nature, epidemiology, genetic associations, and environmental exposures associated with amyotrophic lateral sclerosis.

  10. A biopsychosocial model of resilience for multiple sclerosis.

    Science.gov (United States)

    Black, Rebecca; Dorstyn, Diana

    2015-11-01

    The concept of resilience remains under-researched in the multiple sclerosis literature. Consequently, current understanding of the unique and joint contribution of disability-specific variables, cognitive-behavioural skills and social resources to this dynamic process is limited. A holistic model of resilience was therefore developed and tested. Results of an online survey completed by 196 adults with multiple sclerosis revealed both direct and indirect pathways to resilience, with positive affect and self-efficacy being the strongest predictors. The findings lend support to psychological interventions which focus on promoting the personal resources and assets needed to cope effectively with multiple sclerosis. © The Author(s) 2013.

  11. Fatal accidents among Danes with multiple sclerosis

    DEFF Research Database (Denmark)

    Brønnum-Hansen, Henrik; Hansen, Thomas; Koch-Henriksen, Nils

    2006-01-01

    We compared the rate of fatal accidents among Danes with multiple sclerosis (MS) with that of the general population. The study was based on linkage of the Danish Multiple Sclerosis Registry to the Cause of Death Registry and covered all 10174 persons in whom MS was diagnosed during the period 1953......-1996. The end of follow-up was 1 January 1999. We calculated standardized mortality ratios (SMRs) for various types of fatal accidents. A total of 76 persons (48 men and 28 women) died from accidents, whereas the expected number of fatalities from such causes was 55.7 (31.4 men and 24.3 women). Thus, the risk...... for death from accidents among persons with MS was 37% higher than that of the general population (SMR = 1.37). We found no significant excess risk for fatal road accidents (SMR = 0.80). The risk for falls was elevated (SMR = 1.29) but not statistically significantly so. The risks were particularly high...

  12. Amyotrophic lateral sclerosis: one or multiple causes?

    Directory of Open Access Journals (Sweden)

    Aline Furtado Bastos

    2011-04-01

    Full Text Available The Amyotrophic lateral sclerosis (ALS is the most common form of motor neuron disease in the adulthood, and it is characterized by rapid and progressive compromise of the upper and lower motor neurons. The majority of the cases of ALS are classified as sporadic and, until now, a specific cause for these cases still is unknown. To present the different hypotheses on the etiology of ALS. It was carried out a search in the databases: Bireme, Scielo and Pubmed, in the period of 1987 to 2011, using the following keywords: Amyotrophic lateral sclerosis, motor neuron disease, etiology, causes and epidemiology and its similar in Portuguese and Spanish. It did not have consensus as regards the etiology of ALS. Researches demonstrates evidences as regards intoxication by heavy metals, environmental and occupational causes, genetic mutations (superoxide dismutase 1, certain viral infections and the accomplishment of vigorous physical activity for the development of the disease. There is still no consensus regarding the involved factors in the etiology of ALS. In this way, new research about these etiologies are necessary, for a better approach of the patients, promoting preventive programs for the disease and improving the quality of life of the patients.

  13. Amyotrophic lateral sclerosis: one or multiple causes?

    Science.gov (United States)

    Bastos, Aline Furtado; Orsini, Marco; Machado, Dionis; Mello, Mariana Pimentel; Nader, Sergio; Silva, Júlio Guilherme; da Silva Catharino, Antonio M.; de Freitas, Marcos R.G.; Pereira, Alessandra; Pessoa, Luciane Lacerda; Sztajnbok, Flavio R.; Leite, Marco Araújo; Nascimento, Osvaldo J.M.; Bastos, Victor Hugo

    2011-01-01

    The Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease in the adulthood, and it is characterized by rapid and progressive compromise of the upper and lower motor neurons. The majority of the cases of ALS are classified as sporadic and, until now, a specific cause for these cases still is unknown. To present the different hypotheses on the etiology of ALS. It was carried out a search in the databases: Bireme, Scielo and Pubmed, in the period of 1987 to 2011, using the following keywords: Amyotrophic lateral sclerosis, motor neuron disease, etiology, causes and epidemiology and its similar in Portuguese and Spanish. It did not have consensus as regards the etiology of ALS. Researches demonstrates evidences as regards intoxication by heavy metals, environmental and occupational causes, genetic mutations (superoxide dismutase 1), certain viral infections and the accomplishment of vigorous physical activity for the development of the disease. There is still no consensus regarding the involved factors in the etiology of ALS. In this way, new research about these etiologies are necessary, for a better approach of the patients, promoting preventive programs for the disease and improving the quality of life of the patients. PMID:21785676

  14. Pregnancy in multiple sclerosis: a questionnaire study.

    Directory of Open Access Journals (Sweden)

    Nadja Borisow

    Full Text Available BACKGROUND: Multiple sclerosis (MS preferentially affects females at childbearing age. For this reason patients and treating physicians were frequently confronted with questions concerning family planning, pregnancy and birth. OBJECTIVE: The aim of this study was to evaluate the expertise about pregnancy related topics in multiple sclerosis of neurologists in private practice. METHODS: We developed a survey with 16 multiple choice questions about pregnancy related topics and sent it to neurologists in private practice in Berlin, Germany. RESULTS: 56 completed questionnaires were sent back. 54% of all questions were answered correctly, 21% of the questions were answered with "I don't know". Correct answers were more often given by physicians who treat more than 400 MS patients per year (p = 0.001. Further positive associations were found for assumed relevance of the topic (p = 0.002 and the degree of counseling (p<0.001. CONCLUSION: To provide a comprehensive counseling, MS patients with desire for children should be counseled by physicians with a lot of experience in MS treatment.

  15. Serum prolactin level in multiple sclerosis patients

    Directory of Open Access Journals (Sweden)

    Mohammad Ali Shafa

    2006-12-01

    Full Text Available BACKGROUND: Multiple Sclerosis (MS is the most common demyelinating disease. An autoimmune basis has been confirmed for pathogenesis of MS. Prolactin (PRL has roles in these mechanisms. Its serum levels change in MS according to some reports. The purpose of this study was to survey these changes in MS patients. METHODS: Sixty MS patients were included in this cross-sectional study. The same number of controls matched for sex and age were studied. Pregnant, lactating women, consumers of specific medications and patients with underlying diseases were excluded from our study. RIA was used for determination of serum levels of PRL. RESULTS: In this study, PRL level in male patients was 14.23 ± 11.47 ng/ml compared to controls with mean level of 7.21 ± 4.12 ng/ml (P value <0.001. Mean PRL level in female patients was 20.18 ± 11.04 ng/ml whereas controls had a mean level of 14.45 ± 6.93 ng/ml (one-tailed P value <0.05. So there were significant differences in serum PRL level between case and control groups in both men and women CONCLUSIONS: PRL has a positive relation with MS in both sexes. Further studies for determination of causality relation and drug effect in endocrine system on MS pathogenesis are suggested. KEY WORDS: Multiple Sclerosis, prolactin, male, female

  16. Multiple sclerosis in Brazil: A systematic review.

    Science.gov (United States)

    Vasconcelos, C C F; Thuler, L C S; Rodrigues, B C; Calmon, A B; Alvarenga, R M P

    2016-12-01

    The natural history of multiple sclerosis (MS) in Brazil has been available in different regions of country. There is no nationwide population-based studies that express general data in Brazil. To review and synthesize available data about MS in Brazil. Systematic review was performed through a search of medical literature databases to identify Brazilian studies published during 1990-2012. PubMed, SciELO, and Lilacs. "Brazil" or "Brazilian" combined with the following terms: "multiple sclerosis", "clinical profile", "demographic profile", "natural history", "clinical course", "pediatric", or "familial form". In total of 45 pediatric and 1922 adult patients, the median age at onset was 10 years in pediatric patients and 32 years in adult patients. Women were more affected. Motor-control complaints and relapsing-remitting phenotype at onset were the most common. Predictors to disability and progression were number of relapses during the first year of disease, older age, male gender and African ancestry. The profile of the MS in Brazilian seems to correspond to that observed in high-MS-prevalence areas. African ancestry is a risk factor to disability and progression early. In Brazil, factors that limit MS incidence do not interfere with the clinical pattern and outcomes. Copyright © 2016 Elsevier B.V. All rights reserved.

  17. Pregnancy in Multiple Sclerosis: A Questionnaire Study

    Science.gov (United States)

    Borisow, Nadja; Paul, Friedemann; Ohlraun, Stephanie; Pach, Daniel; Fischer, Felix; Dörr, Jan

    2014-01-01

    Background Multiple sclerosis (MS) preferentially affects females at childbearing age. For this reason patients and treating physicians were frequently confronted with questions concerning family planning, pregnancy and birth. Objective The aim of this study was to evaluate the expertise about pregnancy related topics in multiple sclerosis of neurologists in private practice. Methods We developed a survey with 16 multiple choice questions about pregnancy related topics and sent it to neurologists in private practice in Berlin, Germany. Results 56 completed questionnaires were sent back. 54% of all questions were answered correctly, 21% of the questions were answered with “I don’t know”. Correct answers were more often given by physicians who treat more than 400 MS patients per year (p = 0.001). Further positive associations were found for assumed relevance of the topic (p = 0.002) and the degree of counseling (p<0.001). Conclusion To provide a comprehensive counseling, MS patients with desire for children should be counseled by physicians with a lot of experience in MS treatment. PMID:24901447

  18. The Multiple Sclerosis Self-Management Scale

    Science.gov (United States)

    Ghahari, Setareh; Khoshbin, Lana S.

    2014-01-01

    Background: The Multiple Sclerosis Self-Management Scale (MSSM) is currently the only measure that was developed specifically to address self-management among individuals with multiple sclerosis (MS). While good internal consistency (α = 0.85) and construct validity have been demonstrated, other psychometric properties have not been established. This study was undertaken to evaluate the criterion validity, test-retest reliability, and face validity of the MSSM. Methods: Thirty-one individuals with MS who met the inclusion criteria were recruited to complete a series of questionnaires at two time points. At Time 1, participants completed the MSSM and two generic self-management tools—the Partners in Health (PIH-12) and the Health Education Impact Questionnaire (heiQ)—as well as a short questionnaire to capture participants' opinions about the MSSM. At Time 2, approximately 2 weeks after Time 1, participants completed the MSSM again. Results: The available MSSM factors showed moderate to high correlations with both PIH-12 and heiQ and were deemed to have satisfactory test-retest reliability. Face validity pointed to areas of the MSSM that need to be revised in future work. As indicated by the participants, some dimensions of MS self-management are missing in the MSSM and some items such as medication are redundant. Conclusions: This study provides evidence for the reliability and validity of the MSSM; however, further changes are required for both researchers and clinicians to use the tool meaningfully in practice. PMID:25061429

  19. Vitamin D and remyelination in multiple sclerosis.

    Science.gov (United States)

    Matías-Guíu, J; Oreja-Guevara, C; Matias-Guiu, J A; Gomez-Pinedo, U

    2016-06-16

    Several studies have found an association between multiple sclerosis and vitamin D (VD) deficiency, which suggests that VD may play a role in the immune response. However, few studies have addressed its role in remyelination. The VD receptor and the enzymes transforming VD into metabolites which activate the VD receptor are expressed in central nervous system (CNS) cells, which suggests a potential effect of VD on the CNS. Both in vitro and animal model studies have shown that VD may play a role in myelination by acting on factors that influence the microenvironment which promotes both proliferation and differentiation of neural stem cells into oligodendrocyte progenitor cells and oligodendrocytes. It remains unknown whether the mechanisms of internalisation of VD in the CNS are synergistic with or antagonistic to the mechanisms that facilitate the entry of VD metabolites into immune cells. VD seems to play a role in the CNS and our hypothesis is that VD is involved in remyelination. Understanding the basic mechanisms of VD in myelination is necessary to manage multiple sclerosis patients with VD deficiency. Copyright © 2016 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

  20. Alemtuzumab for the treatment of multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Willis MD

    2015-03-01

    Full Text Available Mark D Willis, Neil P Robertson Institute of Psychological Medicine and Clinical Neuroscience, Cardiff University, University Hospital of Wales, Heath Park, Cardiff, UK Abstract: Alemtuzumab is an anti-CD52 monoclonal antibody, recently approved for the treatment of active, relapsing multiple sclerosis (MS. Administration of alemtuzumab causes a rapid and dramatic reduction in circulating lymphocytes, with a predictable subsequent pattern of immune reconstitution. Although the precise mode of action remains unclear, treatment results in a marked reduction in annualized relapse rates, slowing of disability progression compared with an active comparator, and may even cause disability reversal. Although conferring clear clinical benefits, alemtuzumab carries a significant long-term risk of autoimmune disease (AID, which has a particular predilection for the thyroid gland, although a wide range of other disorders have also been reported. However, risks of AID can usually be anticipated and treated successfully, provided rigorous monitoring and surveillance protocols are followed by clinicians and patients alike. Despite its immunosuppressive mechanism of action serious infections are rare and malignancies commonly associated with immunodeficiency have not been observed to date. Alemtuzumab’s unique mode of administration, as well as it’s durability of effect, provides an important addition to currently available therapeutic interventions for MS, and in particular is a valuable treatment option in recent onset and highly active relapsing disease. Keywords: multiple sclerosis, alemtuzumab, autoimmune disease

  1. Oroal manifestations in patients with multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Grajales González Hilda María

    2014-07-01

    Full Text Available Multiple sclerosis is a chronic autoimmune inflammatory disease of the central nervous system, characterized by the presence of acute focal inflammatory demyelination, axonal loss and gliosis. It affects predominantly in young adults between 20 and 40 years of age; it is infrequent in the pediatric age. A observational, retrospective and descriptive cohort research was conducted between May 1999 and January 2012 to assess demographic characteristics, and pathological manifestations in the oral cav- ity of children with this condition. Records of 17 patients, under 18 years of age, of either sex were included, who had been evaluated in the Department of Stomatology. Data recorded were age, sex, State of origin, oral and facial pathological features, focal cavity infections and ceod index. There were no patients with trigeminal neuralgia or facial paralysis; a 5.7% ceod index was identified. Most of the patients were under immunopressive treatment. A protocol for stomatological follow-up in patients with multiple sclerosis does not exist. The medical profession must be sensibilized to establish strategies for an integral follow-up in patients with this condition.

  2. Reliability of classifying multiple sclerosis disease activity using magnetic resonance imaging in a multiple sclerosis clinic.

    Science.gov (United States)

    Erbayat Altay, Edru; Fisher, Elizabeth; Jones, Stephen E; Hara-Cleaver, Claire; Lee, Jar-Chi; Rudick, Richard A

    2013-03-01

    To assess the reliability of new magnetic resonance imaging (MRI) lesion counts by clinicians in a multiple sclerosis specialty clinic. An observational study. A multiple sclerosis specialty clinic. Eighty-five patients with multiple sclerosis participating in a National Institutes of Health–supported longitudinal study were included. Each patient had a brain MRI scan at entry and 6 months later using a standardized protocol. The number of new T2 lesions, newly enlarging T2 lesions, and gadolinium-enhancing lesions were measured on the 6-month MRI using a computer-based image analysis program for the original study. For this study, images were reanalyzed by an expert neuroradiologist and 3 clinician raters. The neuroradiologist evaluated the original image pairs; the clinicians evaluated image pairs that were modified to simulate clinical practice. New lesion counts were compared across raters, as was classification of patients as MRI active or inactive. Agreement on lesion counts was highest for gadolinium-enhancing lesions, intermediate for new T2 lesions, and poor for enlarging T2 lesions. In 18% to 25% of the cases, MRI activity was classified differently by the clinician raters compared with the neuroradiologist or computer program. Variability among the clinical raters for estimates of new T2 lesions was affected most strongly by the image modifications that simulated low image quality and different head position. Between-rater variability in new T2 lesion counts may be reduced by improved standardization of image acquisitions, but this approach may not be practical in most clinical environments. Ultimately, more reliable, robust, and accessible image analysis methods are needed for accurate multiple sclerosis disease-modifying drug monitoring and decision making in the routine clinic setting.

  3. Fatigue and Fatigability in Persons With Multiple Sclerosis

    NARCIS (Netherlands)

    Zijdewind, Inge; Prak, Roeland F.; Wolkorte, Ria

    2016-01-01

    We examine the hypothesis that in persons with multiple sclerosis, fatigue measured with a questionnaire is attributable to interactions between the central nervous system and the immune system, which exacerbate both perceived fatigability and performance fatigability. Performance fatigability is

  4. Modeling Phenotypes of Tuberous Sclerosis in the Mouse

    National Research Council Canada - National Science Library

    Shipley, James M

    2006-01-01

    The overall goal of this project is to generate a mouse model of the smooth muscle-related facets of tuberous sclerosis specifically in an attempt to model the lung phenotype seen in a subset of TS...

  5. Progressive systemic sclerosis in childhood: A report of three cases

    OpenAIRE

    Belgaumkar Vasudha; Gokhale Neeta; Mahajan Pradeep; Tolat Sunil; Bhokare Anil; Kamble Shekhar

    2004-01-01

    Systemic sclerosis is unusual in childhood. We describe three children who presented with diffuse hidebound skin associated with gastrointestinal and pulmonary abnormalities. Cardiac and renal dysfunctions, which are often encountered in these patients, were notably absent in our cases.

  6. Depression and multiple sclerosis: Review of a lethal combination

    National Research Council Canada - National Science Library

    Wallin, Mitchell T; Wilken, Jeffrey A; Turner, Aaron P; Williams, Rhonda M; Kane, Robert

    2006-01-01

    Depression is the most frequent psychiatric disorder in multiple sclerosis (MS) patients. The etiology of depression is multifactorial and likely associated with psychosocial stress, focal demyelinating lesions, and immune dysfunction...

  7. How long can you keep working with benign multiple sclerosis?

    National Research Council Canada - National Science Library

    Glad, Solveig B; Nyland, Harald; Aarseth, Jan Harald; Riise, Trond; Myhr, Kjell-Morten

    2011-01-01

    To study employment in benign multiple sclerosis (MS), the frequency of employment was analysed and the effect of early clinical and demographic factors on time to disability pension was evaluated in a population based MS cohort...

  8. Factors associated with unemployment among persons with multiple sclerosis.

    Science.gov (United States)

    Rumrill, P D

    1996-01-01

    The article examines the high (75%) rate of unemployment among Americans with multiple sclerosis (MS). Specifically, it considers the demographic, medical, psychological, sociopolitical, and work related aspects of MS which have been linked to unemployment.

  9. Alcohol, coffee, fish, smoking and disease progression in multiple sclerosis

    NARCIS (Netherlands)

    D'hooghe, M. B.; Haentjens, P.; Nagels, G.; De Keyser, J.

    Background: Certain lifestyle factors might influence disease activity in multiple sclerosis (MS). Objectives: To investigate the consumption of alcoholic beverages, caffeinated drinks, fish and cigarette smoking in relation to disability progression in relapsing onset and progressive onset MS.

  10. MRI criteria for the diagnosis of multiple sclerosis

    DEFF Research Database (Denmark)

    Filippi, Massimo; Rocca, Maria A; Ciccarelli, Olga

    2016-01-01

    In patients presenting with a clinically isolated syndrome, MRI can support and substitute clinical information in the diagnosis of multiple sclerosis by showing disease dissemination in space and time and by helping to exclude disorders that can mimic multiple sclerosis. MRI criteria were first...... included in the diagnostic work-up for multiple sclerosis in 2001, and since then several modifications to the criteria have been proposed in an attempt to simplify lesion-count models for showing disease dissemination in space, change the timing of MRI scanning to show dissemination in time, and increase...... was to provide an evidence-based and expert-opinion consensus on proposed modifications to MRI criteria for the diagnosis of multiple sclerosis....

  11. Disease-specific molecular events in cortical multiple sclerosis lesions

    National Research Council Canada - National Science Library

    Fischer, Marie Therese; Wimmer, Isabella; Höftberger, Romana; Gerlach, Susanna; Haider, Lukas; Zrzavy, Tobias; Hametner, Simon; Mahad, Don; Binder, Christoph J; Krumbholz, Markus; Bauer, Jan; Bradl, Monika; Lassmann, Hans

    2013-01-01

    Cortical lesions constitute an important part of multiple sclerosis pathology. Although inflammation appears to play a role in their formation, the mechanisms leading to demyelination and neurodegeneration are poorly understood...

  12. Gender differences in multiple sclerosis epidemiology and treatment response

    National Research Council Canada - National Science Library

    Magyari, Melinda

    2016-01-01

    There is an increasing incidence of multiple sclerosis (MS) in women in Denmark and Danish women's risk of developing MS has more than doubled in 25 years, while it has remained virtually unchanged for men...

  13. Downregulation of macrophage inhibitory molecules in multiple sclerosis lesions

    NARCIS (Netherlands)

    Koning, Nathalie; Bö, Lars; Hoek, Robert M.; Huitinga, Inge

    2007-01-01

    Inflammatory and demyelinating activity of activated resident macrophages (microglia) and recruited blood-borne macrophages are considered crucial in multiple sclerosis (MS) lesion development. The membrane glycoproteins CD200 and CD47, highly expressed on neurons, are mediators of macrophage

  14. Grey matter damage in multiple sclerosis A pathology perspective

    NARCIS (Netherlands)

    Klaver, R.; de Vries, H.E.; Schenk, G.J.; Geurts, J.J.G.

    2013-01-01

    Over the past decade, immunohistochemical studies have provided compelling evidence that gray matter (GM) pathology in multiple sclerosis (MS) is extensive. Until recently, this GM pathology was difficult to visualize using standard magnetic resonance imaging (MRI ) techniques. However, with newly

  15. Direct and indirect economic consequences of multiple sclerosis in Ireland

    LENUS (Irish Health Repository)

    Fogarty, Emer

    2014-09-01

    Multiple sclerosis (MS) has significant financial consequences for healthcare systems, individual patients and households, and the wider society. This study examines the distribution of MS costs and resource utilisation across cost categories and from various perspectives, as MS disability increases.

  16. Encapsulating peritoneal sclerosis: experience of a tertiary referral center.

    LENUS (Irish Health Repository)

    Phelan, P J

    2010-05-01

    Encapsulating peritoneal sclerosis (EPS) is arguably the most serious complication of chronic peritoneal dialysis (PD) therapy with extremely high mortality rates. We aimed to establish the rates of EPS and factors associated with its development in a single center.

  17. Childhood trauma in multiple sclerosis: a case-control study

    National Research Council Canada - National Science Library

    Spitzer, Carsten; Bouchain, Miriam; Winkler, Liza Y; Wingenfeld, Katja; Gold, Stefan M; Grabe, Hans Joergen; Barnow, Sven; Otte, Christian; Heesen, Christoph

    2012-01-01

    To investigate the association between childhood trauma and multiple sclerosis (MS) by comparing histories of child abuse and neglect between patients with MS and adults from the general population in a cross-sectional case-control study...

  18. Alterations in the hypothalamic melanocortin pathway in amyotrophic lateral sclerosis.

    Science.gov (United States)

    Vercruysse, Pauline; Sinniger, Jérôme; El Oussini, Hajer; Scekic-Zahirovic, Jelena; Dieterlé, Stéphane; Dengler, Reinhard; Meyer, Thomas; Zierz, Stephan; Kassubek, Jan; Fischer, Wilhelm; Dreyhaupt, Jens; Grehl, Torsten; Hermann, Andreas; Grosskreutz, Julian; Witting, Anke; Van Den Bosch, Ludo; Spreux-Varoquaux, Odile; Ludolph, Albert C; Dupuis, Luc

    2016-04-01

    Amyotrophic lateral sclerosis, the most common adult-onset motor neuron disease, leads to death within 3 to 5 years after onset. Beyond progressive motor impairment, patients with amyotrophic lateral sclerosis suffer from major defects in energy metabolism, such as weight loss, which are well correlated with survival. Indeed, nutritional intervention targeting weight loss might improve survival of patients. However, the neural mechanisms underlying metabolic impairment in patients with amyotrophic lateral sclerosis remain elusive, in particular due to the lack of longitudinal studies. Here we took advantage of samples collected during the clinical trial of pioglitazone (GERP-ALS), and characterized longitudinally energy metabolism of patients with amyotrophic lateral sclerosis in response to pioglitazone, a drug with well-characterized metabolic effects. As expected, pioglitazone decreased glycaemia, decreased liver enzymes and increased circulating adiponectin in patients with amyotrophic lateral sclerosis, showing its efficacy in the periphery. However, pioglitazone did not increase body weight of patients with amyotrophic lateral sclerosis independently of bulbar involvement. As pioglitazone increases body weight through a direct inhibition of the hypothalamic melanocortin system, we studied hypothalamic neurons producing proopiomelanocortin (POMC) and the endogenous melanocortin inhibitor agouti-related peptide (AGRP), in mice expressing amyotrophic lateral sclerosis-linked mutant SOD1(G86R). We observed lower Pomc but higher Agrp mRNA levels in the hypothalamus of presymptomatic SOD1(G86R) mice. Consistently, numbers of POMC-positive neurons were decreased, whereas AGRP fibre density was elevated in the hypothalamic arcuate nucleus of SOD1(G86R) mice. Consistent with a defect in the hypothalamic melanocortin system, food intake after short term fasting was increased in SOD1(G86R) mice. Importantly, these findings were replicated in two other amyotrophic

  19. Multiple sclerosis among patients with previous diagnosis of leishmaniasis

    OpenAIRE

    Mehrdad Farrokhi; Mosoud Etemadifar; Ali Rezaei; Ali Amani Beni

    2015-01-01

    Leishmaniasis is a protozoan parasitic disease which is caused by leishmania genus and is transmitted by sand flies. Multiple sclerosis (MS), however, is a chronic inflammatory disease of central nervous system (CNS). Since co-existence of these two diseases in an individual is rare, we aimed to evaluate prevalence of leishmaniasis among MS patients. At first, total Isfahan MS (TIMS) records of 5123 MS patients who registered in Isfahan multiple sclerosis society (IMMS) from April 2003 till J...

  20. Fabry Disease ? Underestimated in the Differential Diagnosis of Multiple Sclerosis?

    OpenAIRE

    Tobias Böttcher; Arndt Rolfs; Christian Tanislav; Andreas Bitsch; Wolfgang Köhler; Jens Gaedeke; Anne-Katrin Giese; Kolodny, Edwin H.; Thomas Duning

    2013-01-01

    OBJECTIVE: Fabry disease is a rare X-linked inherited lysosomal storage disorder affecting multiple organ systems. It includes central nervous system involvement via micro- and macroangiopathic cerebral changes. Due to its clinical symptoms and frequent MRI lesions, Fabry disease is commonly misdiagnosed as multiple sclerosis. We present an overview of cases from Fabry centres in Germany initially misdiagnosed with multiple sclerosis and report the clinical, MR-tomographical, and laboratory f...

  1. Lead poisoning from complementary and alternative medicine in multiple sclerosis

    OpenAIRE

    Fisher, A; Le Couteur, D.G.

    2000-01-01

    A patient with multiple sclerosis is described who was treated for neurological symptoms thought to be a progression of his disease but subsequently found to be caused by lead poisoning secondary to the use of alternative medicine. His clinical signs improved with oral chelation therapy. Neurologists should consider asking about the use of complementary and alternative medicine before simply attributing symptoms and signs to exacerbation of multiple sclerosis.



  2. Physical Activity and Its Correlates in Youth with Multiple Sclerosis.

    Science.gov (United States)

    Grover, Stephanie A; Sawicki, Carolyn P; Kinnett-Hopkins, Dominique; Finlayson, Marcia; Schneiderman, Jane E; Banwell, Brenda; Till, Christine; Motl, Robert W; Yeh, E Ann

    2016-12-01

    To investigate physical activity levels in youth with multiple sclerosis and monophasic acquired demyelinating syndromes ([mono-ADS], ie, children without relapsing disease) compared with healthy controls and to determine factors that contribute to engagement in physical activity. We hypothesized that greater physical activity goal setting and physical activity self-efficacy would be associated with greater levels of vigorous physical activity in youth with multiple sclerosis. A total of 68 consecutive patients (27 multiple sclerosis, 41 mono-ADS) and 37 healthy controls completed fatigue, depression, Physical Activity Self-Efficacy Scale, perceived disability, Exercise Goal-Setting scale, and physical activity questionnaires, and wore an accelerometer for 7 days. All patients had no ambulatory limitations (Expanded Disability Status Scale, scores all Youth with multiple sclerosis engaged in fewer minutes per day of vigorous (P = .009) and moderate and vigorous physical activity (P = .048) than did patients with mono-ADS and healthy controls. A lower proportion of the group with multiple sclerosis (63%) reported participating in any strenuous physical activity than the mono-ADS (85%) and healthy control (89%) groups (P = .020). When we adjusted for age and sex, the Physical Activity Self-Efficacy Scale and Exercise Goal-Setting scale were associated positively with vigorous physical activity in the group with multiple sclerosis. Fatigue and depression did not predict physical activity or accelerometry metrics. Youth with multiple sclerosis participate in less physical activity than their counterparts with mono-ADS and healthy controls. Physical activity self-efficacy and exercise goal setting serve as potentially modifiable correlates of physical activity, and are measures suited to future interventions aimed to increase physical activity in youth with multiple sclerosis. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Modelling the multiple sclerosis disease using stochastic petri nets

    OpenAIRE

    Μικελλίδης, Λοΐζος; Mikellides, Loizos

    2011-01-01

    Multiple Sclerosis is an inflammatory demyelinating disorder of the Central Nervous System. It is an autoimmune disease that its causes are still not clarified. The demyelization of the neural axons leads to the physical and cognitive disability of the patient. It is important to model the pathophysiology of Multiple Sclerosis in order to obtain an insight of the problem. Formal methods help in this direction by providing concepts and disciplines that are applicable to biological systems, ...

  4. Value, Challenges, and Satisfaction of Certification for Multiple Sclerosis Specialists

    OpenAIRE

    Gulick, Elsie E.; Halper, June

    2014-01-01

    Background: Specialist certification among interdisciplinary multiple sclerosis (MS) team members provides formal recognition of a specialized body of knowledge felt to be necessary to provide optimal care to individuals and families living with MS. Multiple sclerosis specialist certification (MS Certified Specialist, or MSCS) first became available in 2004 for MS interdisciplinary team members, but prior to the present study had not been evaluated for its perceived value, challenges, and sat...

  5. The effect of exercise therapy on fatigue in multiple sclerosis

    DEFF Research Database (Denmark)

    Andreasen, A; Stenager, E; Dalgas, U

    2011-01-01

    Fatigue occurs in the majority of patients with multiple sclerosis (MS) and therapeutic possibilities are few. Exercise therapy is a therapeutic option but no studies have systematically reviewed the existing literature evaluating the effect of exercise therapy on MS fatigue.......Fatigue occurs in the majority of patients with multiple sclerosis (MS) and therapeutic possibilities are few. Exercise therapy is a therapeutic option but no studies have systematically reviewed the existing literature evaluating the effect of exercise therapy on MS fatigue....

  6. Muscle fiber size increases following resistance training in multiple sclerosis

    DEFF Research Database (Denmark)

    Dalgas, U; Stenager, E; Jakobsen, Johannes Klitgaard

    2010-01-01

    To test the hypothesis that lower body progressive resistance training (PRT) leads to an increase of the muscle fiber cross-sectional area (CSA) and a shift in the proportion of fiber types in patients with multiple sclerosis (MS).......To test the hypothesis that lower body progressive resistance training (PRT) leads to an increase of the muscle fiber cross-sectional area (CSA) and a shift in the proportion of fiber types in patients with multiple sclerosis (MS)....

  7. Pediatric Multiple Sclerosis: Genes, Environment, and a Comprehensive Therapeutic Approach.

    Science.gov (United States)

    Cappa, Ryan; Theroux, Liana; Brenton, J Nicholas

    2017-10-01

    Pediatric multiple sclerosis is an increasingly recognized and studied disorder that accounts for 3% to 10% of all patients with multiple sclerosis. The risk for pediatric multiple sclerosis is thought to reflect a complex interplay between environmental and genetic risk factors. Environmental exposures, including sunlight (ultraviolet radiation, vitamin D levels), infections (Epstein-Barr virus), passive smoking, and obesity, have been identified as potential risk factors in youth. Genetic predisposition contributes to the risk of multiple sclerosis, and the major histocompatibility complex on chromosome 6 makes the single largest contribution to susceptibility to multiple sclerosis. With the use of large-scale genome-wide association studies, other non-major histocompatibility complex alleles have been identified as independent risk factors for the disease. The bridge between environment and genes likely lies in the study of epigenetic processes, which are environmentally-influenced mechanisms through which gene expression may be modified. This article will review these topics to provide a framework for discussion of a comprehensive approach to counseling and ultimately treating the pediatric patient with multiple sclerosis. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Effects of Acupuncture on Gait of Patients with Multiple Sclerosis.

    Science.gov (United States)

    Criado, Maria Begoña; Santos, Maria João; Machado, Jorge; Gonçalves, Arminda Manuela; Greten, Henry Johannes

    2017-11-01

    Multiple sclerosis is considered a complex and heterogeneous disease. Approximately 85% of patients with multiple sclerosis indicate impaired gait as one of the major limitations in their daily life. Acupuncture studies found a reduction of spasticity and improvement of fatigue and imbalance in patients with multiple sclerosis, but there is a lack of studies regarding gait. We designed a study of acupuncture treatment, according to the Heidelberg model of Traditional Chinese Medicine (TCM), to investigate if acupuncture can be a useful therapeutic strategy in patients with gait impairment in multiple sclerosis of relapsing-remitting type. The sample consisted of 20 individuals with diagnosis of multiple sclerosis of relapsing-remitting type. Gait impairment was evaluated by the 25-foot walk test. The results showed differences in time to walk 25 feet following true acupuncture. In contrast, there was no difference in time to walk 25 feet following sham acupuncture. When using true acupuncture, 95% of cases showed an improvement in 25-foot walk test, compared with 45% when sham acupuncture was done. Our study protocol provides evidence that acupuncture treatment can be an attractive option for patients with multiple sclerosis, with gait impairment.

  9. Serum total antioxidant capacity in patients with multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Almira Hadžović-Džuvo

    2011-02-01

    Full Text Available Multiple sclerosis (MS is a chronic inflammatory disease of the central nervous system (CNS. It is characterized by loss of myelin, the fatty tissue that surrounds and protects nerve fibres allowing them to conduct electrical impulses. Recent data indicate that oxidative stress (OS plays a major role in the pathogenesis of multiple sclerosis (MS. The aim of this study was to estimate level of serum total antioxidative capacity in patients with multiple sclerosis. Our cross-sectional study included 33 patients with MS and 24 age and sex matched control subjects. All our patients had a Poser criteria for definite diagnostic categories of multiple sclerosis. Serum total antioxidant capacity (TAC was measured by quantitative colorimetric determination, using Total antioxidant Capacity-QuantiCromAntioxidant Assay Kit (BioAssay systems, USA; DTAC-100. Mean serum TAC in multiple sclerosis group of patients was 119.2 mM Trolox equivalents and was significantly lower (p<0.001 compared to the control group of subjects (167.1 mM Trolox equivalents. Our results showed that oxidative stress plays an important role in pathogenesis of multiple sclerosis. This finding, also, suggests the importance of antioxidants in diet and therapy of MS patients.

  10. Neonatal vitamin D status and risk of multiple sclerosis.

    Science.gov (United States)

    Ueda, Peter; Rafatnia, Farshid; Bäärnhielm, Maria; Fröbom, Robin; Korzunowicz, Greg; Lönnerbro, Ragnar; Hedström, Anna Karin; Eyles, Darryl; Olsson, Tomas; Alfredsson, Lars

    2014-09-01

    Low vitamin D status at birth may be associated with risk of adult onset multiple sclerosis, but this link has not been studied directly. We assessed the relation between neonatal vitamin D concentrations, measured in stored blood samples, and risk of multiple sclerosis. This was a population-based case-control study in Sweden including 459 incident cases of multiple sclerosis and 663 controls, randomly drawn from a national population registry and frequency matched on sex, age, and residential area. There was no association between neonatal 25-hydroxyvitamin D quintile and risk of multiple sclerosis (crude odds ratio = 1.0, 95% confidence interval = 0.68-1.44, for the highest quintile compared to the lowest). Adjusting for a number of potential confounding factors in early life (month of birth, latitude of birth, breastfeeding) and in adult life (25-hydroxyvitamin D, sun exposure, vitamin D intake from dairy products, fatty fish consumption, smoking, body mass index at 20 years of age) as well as ancestry, multiple sclerosis heredity, and socioeconomic group did not considerably affect the result. At a broad population level, 25-hydroxyvitamin D at birth was not associated with risk of multiple sclerosis. © 2014 American Neurological Association.

  11. Spinal Cord Gray Matter Atrophy in Amyotrophic Lateral Sclerosis.

    Science.gov (United States)

    Paquin, M-Ê; El Mendili, M M; Gros, C; Dupont, S M; Cohen-Adad, J; Pradat, P-F

    2018-01-01

    There is an emerging need for biomarkers to better categorize clinical phenotypes and predict progression in amyotrophic lateral sclerosis. This study aimed to quantify cervical spinal gray matter atrophy in amyotrophic lateral sclerosis and investigate its association with clinical disability at baseline and after 1 year. Twenty-nine patients with amyotrophic lateral sclerosis and 22 healthy controls were scanned with 3T MR imaging. Standard functional scale was recorded at the time of MR imaging and after 1 year. MR imaging data were processed automatically to measure the spinal cord, gray matter, and white matter cross-sectional areas. A statistical analysis assessed the difference in cross-sectional areas between patients with amyotrophic lateral sclerosis and controls, correlations between spinal cord and gray matter atrophy to clinical disability at baseline and at 1 year, and prediction of clinical disability at 1 year. Gray matter atrophy was more sensitive to discriminate patients with amyotrophic lateral sclerosis from controls (P = .004) compared with spinal cord atrophy (P = .02). Gray matter and spinal cord cross-sectional areas showed good correlations with clinical scores at baseline (R = 0.56 for gray matter and R = 0.55 for spinal cord; P amyotrophic lateral sclerosis. © 2018 by American Journal of Neuroradiology.

  12. A typical MR imaging of multiple sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Katagiri, Shinako; Kan, Shinichi; Ikeda, Toshiaki; Nishiyama, Syougo; Nishimaki, Hiroshi; Matsubayashi, Takashi; Hata, Takashi [Kitasato Univ., Sagamihara, Kanagawa (Japan). School of Medicine

    1995-06-01

    MR imaging is very useful in detecting the intracranial lesion of multiple sclerosis (MS). We present six patients of MS with atypical MR imaging findings. Six patients aged 27-56 years (mean 36 years), and sexuality of six patients were 2 men and 4 females. Three patient`s clinical course had episodes of optic neuritis. The plaque`s size of the predominant lesion of the patients ranged from 3.0 to 9.0 cm in diameter. The plaques were oval, elliptically and other shaped. At acute stage, MR imaging detected perfocal edema and focal mass effect in three cases of our study. Two out of six cases showed multiple irregularly enhancing lesion with Gadolinium-DTPA. Plaques of all cases did not disappear completely in final MR imaging study. (author).

  13. Neuropsychology in Multiple Sclerosis: A literature review.

    Directory of Open Access Journals (Sweden)

    Rodneys Mauricio Jiménez Morales

    2011-11-01

    Full Text Available Multiple sclerosis is an inflammatory disease of the central nervous system that is characterized by demyelination and degeneration. The objective of this article is to offer a review of the latest scientific discoveries in the field of neuropsychology in ME. A description is presented of the most frequent neuropsychological manifestations and their probable association with other factors such as: school level, fatigue, disability, cerebral dysfunction, time and clinical form of evolution, as well as depression and other states of mind starting from recent evidences in the scientific community. Also addressed is the development of tests and valid sensitive neuropsychological sets to evaluate cognitive functions. The use of sensitive and specific test facilitates the evaluation of neuropsychological alterations associated to ME, besides other socio-demographic and clinical-evaluative factors to contemplate in the exploration.

  14. Multiple Sclerosis: Immunopathology and Treatment Update

    Directory of Open Access Journals (Sweden)

    Narges Dargahi

    2017-07-01

    Full Text Available The treatment of multiple sclerosis (MS has changed over the last 20 years. All immunotherapeutic drugs target relapsing remitting MS (RRMS and it still remains a medical challenge in MS to develop a treatment for progressive forms. The most common injectable disease-modifying therapies in RRMS include β-interferons 1a or 1b and glatiramer acetate. However, one of the major challenges of injectable disease-modifying therapies has been poor treatment adherence with approximately 50% of patients discontinuing the therapy within the first year. Herein, we go back to the basics to understand the immunopathophysiology of MS to gain insights in the development of new improved drug treatments. We present current disease-modifying therapies (interferons, glatiramer acetate, dimethyl fumarate, teriflunomide, fingolimod, mitoxantrone, humanized monoclonal antibodies (natalizumab, ofatumumb, ocrelizumab, alentuzumab, daclizumab and emerging immune modulating approaches (stem cells, DNA vaccines, nanoparticles, altered peptide ligands for the treatment of MS.

  15. Teriflunomide for oral therapy in multiple sclerosis.

    Science.gov (United States)

    Papadopoulou, Athina; Kappos, Ludwig; Sprenger, Till

    2012-11-01

    Teriflunomide, the active metabolite of an approved antirheumatic drug, is an emerging oral therapy for multiple sclerosis (MS). Next to the inhibition of pyrimidine biosynthesis and proliferation of activated lymphocytes, it seems to have multiple anti-inflammatory and immunomodulating effects. Phase II and III clinical trials in relapsing MS demonstrated favorable safety and tolerability of the drug, as well as clinical efficacy, with a significant reduction of relapse rate, comparable with those of the available injectable immunomodulatory agents. While multiple other studies with teriflunomide are currently ongoing, its exact place in future treatment algorithms for MS is difficult to predict. It may be a good alternative for patients wishing to have an oral treatment with relatively large data regarding long-term safety.

  16. Teriflunomide in multiple sclerosis: an update.

    Science.gov (United States)

    Miller, Aaron E

    2017-02-01

    Teriflunomide, a once-daily, oral disease-modifying therapy, has demonstrated efficacy in patients with relapsing forms of multiple sclerosis (MS) and patients with a first clinical episode suggestive of MS. As the only disease-modifying therapy with positive disability results in two Phase III trials, teriflunomide significantly slowed disability in patients with relapsing forms of MS. We highlight data from the Phase II study and the TEMSO, TOWER, TOPIC and TENERE teriflunomide studies. TEMSO MRI outcomes have been supported with Structural Image Evaluation Using Normalization of Atrophy analyses. We present data from long-term extensions of the Phase II study, TEMSO and TOWER, as well as results from patients who switched from other disease-modifying therapies to teriflunomide, patient-reported outcomes and supplementary measures of response.

  17. Reproductive History and Risk of Multiple Sclerosis

    DEFF Research Database (Denmark)

    Nielsen, N. M.; Jorgensen, K. T.; Stenager, E.

    2011-01-01

    Background: It has been suggested that reproductive factors may be involved in the etiology of multiple sclerosis (MS). We studied associations of reproductive history with MS risk in a population-based setting. Methods: Using national databases, we established a cohort comprising 4.4 million....... Associations between reproductive factors and MS risk were evaluated using rate ratios (RRs) obtained in log-linear Poisson regression analysis. Results: MS was diagnosed in 6332 women and 3426 men. In both sexes, parents had a lower risk of MS compared with childless persons (in women, RR = 0.76 [95...... of pregnancy in the etiology of MS. Moreover, the observed differences in childbearing patterns were restricted to the 5 years before MS diagnosis, suggesting that reverse causality (ie, reduced reproductive activity in persons with yet-undiagnosed MS) might explain the observed associations....

  18. Multiple sclerosis in an adrenoleukodystrophy carrier

    Directory of Open Access Journals (Sweden)

    Thomas Jenkins

    2011-11-01

    Full Text Available X-linked adrenoleukodystrophy (X-ALD is a rare inherited metabolic disorder, in which accumulation of very long chain fatty acids (VLCFAs results in damage to the central nervous system. As the disease is X-linked, males are affected severely, but female carriers may also present with neurological symptoms. We report the case of a young adult female, who presented with episodic sensorimotor symptoms. Although she was a heterozygous female carrier of X-ALD, subsequent investigations confirmed a diagnosis of multiple sclerosis (MS. To the best of our knowledge, this is the first reported case of a female X-ALD carrier in which the clinical features were more consistent with co-existent MS than ALD-related pathology. The case serves as a reminder that alternative, more common diagnoses should also be considered in carriers of rare neurological syndromes.

  19. Amyotrophic lateral sclerosis associated with pregnancy.

    LENUS (Irish Health Repository)

    Tyagi, A

    2012-02-03

    Amyotrophic lateral sclerosis (ALS) is the most common, progressive motor neurone disease but is rare in the obstetric population. Only 4 cases have been described in the English literature since 1975. We describe a 29 year old woman who presented with ataxia, lower limb weakness and dysarthria 4 weeks after the birth of her first child. The symptoms had onset during the pregnancy but had not been considered remarkable. There were clinical features of upper and lower motor neurone involvement without any sensory loss. MRI of brain and spine was normal. CSF analysis was negative. EMG studies confirmed the presence of widespread anterior horn cell dysfunction compatible with ALS. The patient was commenced on Riluzole and has progressed clinically, at 12 months post diagnosis.

  20. Noise in multiple sclerosis: unwanted and necessary.

    Science.gov (United States)

    Bordi, Isabella; Ricigliano, Vito A G; Umeton, Renato; Ristori, Giovanni; Grassi, Francesca; Crisanti, Andrea; Sutera, Alfonso; Salvetti, Marco

    2014-07-01

    As our knowledge about the etiology of multiple sclerosis (MS) increases, deterministic paradigms appear insufficient to describe the pathogenesis of the disease, and the impression is that stochastic phenomena (i.e. random events not necessarily resulting in disease in all individuals) may contribute to the development of MS. However, sources and mechanisms of stochastic behavior have not been investigated and there is no proposed framework to incorporate nondeterministic processes into disease biology. In this report, we will first describe analogies between physics of nonlinear systems and cell biology, showing how small-scale random perturbations can impact on large-scale phenomena, including cell function. We will then review growing and solid evidence showing that stochastic gene expression (or gene expression "noise") can be a driver of phenotypic variation. Moreover, we will describe new methods that open unprecedented opportunities for the study of such phenomena in patients and the impact of this information on our understanding of MS course and therapy.

  1. Promising treatments of tomorrow for multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Harrison Daniel

    2009-01-01

    Full Text Available The therapeutic options for multiple sclerosis are rapidly expanding. What was once seen as a disease with little hope for treatment is now a target of rapid drug development. Current therapies have demonstrated efficacy in limiting the impact of the disease, but none is fully effective in all patients. However, promising new treatments are on the horizon. In this review we will discuss potential novel immunomodulating drugs that are in advanced stages of investigation; these drugs include monoclonal antibodies, chimeric molecules, and oral therapies. The use of hematopoietic stem cells will also be discussed and, in addition, we will look farther ahead at possible novel targets for the development of new immunomodulatory or neuroprotective pharmaceuticals.

  2. [Amyotrophic lateral sclerosis and respiratory insufficiency].

    Science.gov (United States)

    Siirala, Waltteri; Korpela, Jaana; Vuori, Arno; Saaresranta, Tarja; Olkkola, Klaus T; Aantaa, Riku

    2015-01-01

    Amyotrophic lateral sclerosis (ALS) is a disease causing degeneration of motor neurons, without any curative treatment. The most common cause of death is respiratory arrest due to atrophy of the respiratory musculature. ALS-associated respiratory insufficiency differs in mechanism from the more common causes of dyspnea, such as diseases of pulmonary or cardiac origin. Recognizing the respiratory insufficiency can be challenging for a clinician. It should be possible to predict the development of respiratory insufficiency in order to avoid leaving the treatment decisions concerning respiratory insufficiency to emergency services. Noninvasive ventilatory support can be used to alleviate the patient's dyspnea. It is actually recommended as the first-line treatment of ALS-associated respiratory insufficiency.

  3. Onset symptoms in paediatric multiple sclerosis

    DEFF Research Database (Denmark)

    Boesen, Magnus Spangsberg; Sellebjerg, Finn; Blinkenberg, Morten

    2014-01-01

    INTRODUCTION: Paediatric multiple sclerosis (MS) carries a relatively higher mortality and morbidity than adult MS. Paediatric MS symptoms and paraclinical findings at the first demyelinating event have never before been characterised in a Danish setting. The aim of this study was to compare...... symptoms and paraclinical findings at the first demyelinating event in paediatric MS with those of an adult MS population. MATERIAL AND METHODS: A total of 18 subjects with onset of MS relapse before 16 years of age were retrospectively included in the study. Case records were reviewed for symptoms...... at disease onset, cerebrospinal fluid findings, magnetic resonance imaging (MRI) and evoked potentials at the first demyelinating event. These data were compared with similar nationwide data from adults in Denmark. RESULTS: The median age was 14 (range 10-15) years at the first demyelinating event...

  4. Amyotrophic lateral sclerosis: a hormonal condition?

    Science.gov (United States)

    Blasco, Helene; Guennoc, Anne-Marie; Veyrat-Durebex, Charlotte; Gordon, Paul H; Andres, Christian R; Camu, William; Corcia, Philippe

    2012-10-01

    Amyotrophic lateral sclerosis (ALS) is the most frequent motor neuron disorder in adults. This fatal condition, due to degeneration of upper and lower motor neurons in spinal and bulbar myotomes, leads to death from respiratory failure after median disease duration of 36 months. ALS is sporadic in more than 90% of cases and familial in the remaining cases. Most studies show male predominance with a gender ratio of 3:2, but gender differences are age related. The phenotype of ALS is also different in males and females with a predominance of limb onset in males and bulbar onset in females. While age and site of onset impact survival rate, and are both related to gender, gender by itself has not clearly been shown to have an effect on survival. Given this complex relationship between gender and ALS, we developed a hypothesis about hormone involvement in ALS aetiology by suggesting protective effect of oestrogens and adverse effect of androgens.

  5. Quality of life in systemic sclerosis.

    Science.gov (United States)

    Almeida, Cristiana; Almeida, Isabel; Vasconcelos, Carlos

    2015-12-01

    Systemic sclerosis (SSc) is a chronic multi-system autoimmune disease associated with disability and reduced quality of life. There is no effective treatment or cure to SSc, so it is important improve global health of these patients and reduce morbidity and mortality associated with SSc. It was made a literature review about quality of life in patients with SSc, regarding the several factors that should be considered and evaluated when attending to SSc patients. It was also considered the validated scales and questionnaires used to measure outcomes in patients with SSc. We concluded that it is important to have an interdisciplinary approach to SSc patients considering the patient's cognitive representations of the disease and what they value most like mobility and hand function, pain, fatigue, sleep, depression and body image. Copyright © 2015 Elsevier B.V. All rights reserved.

  6. Stubborn rectal prolapse in systemic sclerosis.

    Science.gov (United States)

    Petersen, Sven; Tobisch, Alexander; Puhl, Gero; Kötter, Ina; Wollina, Uwe

    2017-01-01

    Systemic sclerosis (SSc) is an autoimmune connective tissue disorder. Anorectal involvement might typically cause fecal incontinence and rarely rectal prolapse. Here we report three female patients, who were admitted with a mean history of 10 years suffering from SSc. All patients presented with the initial symptom of anal incontinence, in all cases this was associated with rectal intussusception or rectal prolapse. The three women faced prolapse recurrence, independent of the initial procedure. After surgical removal of the prolapse, the incontinence remained. In SSc rectal prolapse syndrome might occur at an earlier age, and a primary prolapse of the ventral aspect of the rectal wall seems to be typical for this disease. If patients with prior diagnosis of SSc appear with third degree of fecal incontinence, it is suspected to be associated with rectal prolapse. The prolapse recurrence rate after surgery in SSc patients is high.

  7. Chemokines and Chemokine Receptors in Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Wenjing Cheng

    2014-01-01

    Full Text Available Multiple sclerosis is an autoimmune disease with classical traits of demyelination, axonal damage, and neurodegeneration. The migration of autoimmune T cells and macrophages from blood to central nervous system as well as the destruction of blood brain barrier are thought to be the major processes in the development of this disease. Chemokines, which are small peptide mediators, can attract pathogenic cells to the sites of inflammation. Each helper T cell subset expresses different chemokine receptors so as to exert their different functions in the pathogenesis of MS. Recently published results have shown that the levels of some chemokines and chemokine receptors are increased in blood and cerebrospinal fluid of MS patients. This review describes the advanced researches on the role of chemokines and chemokine receptors in the development of MS and discusses the potential therapy of this disease targeting the chemokine network.

  8. Modifiable environmental factors in multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Yara Dadalti Fragoso

    2014-11-01

    Full Text Available Potential environmental modifiable factors involved in multiple sclerosis (MS include low adherence to treatment, smoking, obesity, low levels of liposoluble vitamins A and D, high consumption of salt, and a sedentary lifestyle. Chronic tobacco use, obesity, sedentarism and insufficient levels of these vitamins all contribute to maintenance of a proinflammatory state. It is unlikely that there will be noticeable improvement in the inflammatory condition of MS if stopping smoking, reducing weight, exercising, increasing vitamin levels are done in an isolated and erratic manner. Modification of each and every one of these environmental risk factors is likely to be an important approach in the management of MS. The present review presents the arguments for an association between these hazardous modifiable factors and the chronic inflammatory state observed in MS.

  9. Magnetic Resonance Imaging in Amyotrophic Lateral Sclerosis

    Directory of Open Access Journals (Sweden)

    Katja Kollewe

    2012-01-01

    Full Text Available Amyotrophic lateral sclerosis (ALS is a rapidly progressing neurodegenerative disorder which is incurable to date. As there are many ongoing studies with therapeutic candidates, it is of major interest to develop biomarkers not only to facilitate early diagnosis but also as a monitoring tool to predict disease progression and to enable correct randomization of patients in clinical trials. Magnetic resonance imaging (MRI has made substantial progress over the last three decades and is a practical, noninvasive method to gain insights into the pathology of the disease. Disease-specific MRI changes therefore represent potential biomarkers for ALS. In this paper we give an overview of structural and functional MRI alterations in ALS with the focus on task-free resting-state investigations to detect cortical network failures.

  10. Neuroimaging Endpoints in Amyotrophic Lateral Sclerosis.

    Science.gov (United States)

    Menke, Ricarda A L; Agosta, Federica; Grosskreutz, Julian; Filippi, Massimo; Turner, Martin R

    2017-01-01

    Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative, clinically heterogeneous syndrome pathologically overlapping with frontotemporal dementia. To date, therapeutic trials in animal models have not been able to predict treatment response in humans, and the revised ALS Functional Rating Scale, which is based on coarse disability measures, remains the gold-standard measure of disease progression. Advances in neuroimaging have enabled mapping of functional, structural, and molecular aspects of ALS pathology, and these objective measures may be uniquely sensitive to the detection of propagation of pathology in vivo. Abnormalities are detectable before clinical symptoms develop, offering the potential for neuroprotective intervention in familial cases. Although promising neuroimaging biomarker candidates for diagnosis, prognosis, and disease progression have emerged, these have been from the study of necessarily select patient cohorts identified in specialized referral centers. Further multicenter research is now needed to establish their validity as therapeutic outcome measures.

  11. Neuromuscular Junction Dismantling in Amyotrophic Lateral Sclerosis

    Directory of Open Access Journals (Sweden)

    Valentina Cappello

    2017-10-01

    Full Text Available Neuromuscular junction assembly and plasticity during embryonic, postnatal, and adult life are tightly regulated by the continuous cross-talk among motor nerve endings, muscle fibers, and glial cells. Altered communications among these components is thought to be responsible for the physiological age-related changes at this synapse and possibly for its destruction in pathological states. Neuromuscular junction dismantling plays a crucial role in the onset of Amyotrophic Lateral Sclerosis (ALS. ALS is characterized by the degeneration and death of motor neurons leading to skeletal muscle denervation, atrophy and, most often, death of the patient within five years from diagnosis. ALS is a non-cell autonomous disease as, besides motor neuron degeneration, glial cells, and possibly muscle fibers, play a role in its onset and progression. Here, we will review the recent literature regarding the mechanisms leading to neuromuscular junction disassembly and muscle denervation focusing on the role of the three players of this peripheral tripartite synapse.

  12. Autoantibodies in systemic sclerosis: Unanswered questions

    Directory of Open Access Journals (Sweden)

    CRISTIANE eKAYSER

    2015-04-01

    Full Text Available Systemic sclerosis (SSc is an autoimmune disease characterized by vascular abnormalities, and cutaneous and visceral fibrosis. Serum autoantibodies directed to multiple intracellular antigens are present in more than 95% of patients and are considered a hallmark of SSc. They are helpful biomarkers for the early diagnosis of SSc and are associated with distinctive clinical manifestations. With the advent of more sensitive, multiplexed immunoassays, new and old questions about the relevance of autoantibodies in SSc are emerging. In this review we discuss the clinical relevance of autoantibodies in SSc emphasizing the more recently published data. Moreover, we will summarize recent advances regarding the stability of SSc autoantibodies over the course of disease, whether they are mutually exclusive and their potential roles in the disease pathogenesis.

  13. Respiratory apraxia in amyotrophic lateral sclerosis.

    Science.gov (United States)

    Pinto, Susana; Pinto, Anabela; Atalaia, António; Peralta, Rita; de Carvalho, Mamede

    2007-06-01

    Respiratory dysfunction is a critical problem in amyotrophic lateral sclerosis (ALS). We report a patient with ALS who had respiratory apraxia. A 74-year-old female presented with progressive dysarthria and dysphagia. Clinical signs and evidence of widespread denervation on electromyography (EMG) confirmed the diagnosis of ALS. She had no signs of dementia. Irregular volitional inspiratory movements on verbal command were noticed, in contrast with rhythmic automatic inspiration - respiratory apraxia. Limb and buco-facial movements showed no signs of apraxia. EMG of respiratory muscles was normal, apart from irregular phasic activity of the diaphragm on volitional inspiration; this was confirmed by recording respiratory movements with a percutaneous sensor transducer. Sleep study was normal. She deteriorated rapidly; nonetheless, no clinical sign of dementia or other apraxic findings were observed. ALS, particularly when of bulbar onset, can cause respiratory apraxia and EMG of the respiratory muscles can be useful to detect this condition.

  14. Disease-modifying agents in multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Coyle P

    2009-01-01

    Full Text Available Since 1993, six disease-modifying therapies for multiple sclerosis (MS have been proven to be of benefit in rigorous phase III clinical trials. Other agents are also available and are used to treat MS, but definitive data on their efficacy is lacking. Currently, disease-modifying therapy is used for relapsing forms of MS. This includes clinically isolated syndrome/first-attack high-risk patients, relapsing patients, secondary progressive patients who are still experiencing relapses, and progressive relapsing patients. The choice of agent depends upon drug factors (including affordability, availability, convenience, efficacy, and side effects, disease factors (including clinical and neuroimaging prognostic indicators, and patient factors (including comorbidities, lifestyle, and personal preference. This review will discuss the disease-modifying agents used currently in MS, as well as available alternative agents.

  15. The association between multiple sclerosis and uveitis.

    Science.gov (United States)

    Olsen, Tine Gadegaard; Frederiksen, Jette

    The association between multiple sclerosis (MS) and uveitis has been questioned. Nerve tissue and eye tissue develop from the same embryonic cells; thus, MS and uveitis could be etiologically associated. In published studies, the prevalence of MS in patients with uveitis differe from 0.7% to 30.4%, whereas the prevalence of uveitis in patients with MS differe from 0.65% to 36.7%. Based on the largest retrospective studies, the prevalence of uveitis among MS patients is ∼1%, and the prevalence of MS among patients with uveitis is ∼1%. This is considerably higher than in the general population; thus, more research on this topic is needed to further understand the relationship between MS and uveitis. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Measuring fatigue in people with multiple sclerosis.

    Science.gov (United States)

    Chipchase, S Y; Lincoln, N B; Radford, K A

    2003-07-22

    To compare methods of assessing fatigue. Cross sectional. Community. Forty Multile Sclerosis (MS) patients and 20 healthy controls. Fatigue questionnaires, SDSA dot cancellation test, finger tapping test, TEA Lottery. The MS patients had significantly higher levels of fatigue than the controls on the Task Induced Fatigue Scale, Fatigue Severity Scale and Fatigue Impact Scale. The Task Induced Fatigue Scale completed whilst imagining oneself driving and the Fatigue Assessment Instrument did not differentiate between MS patients and controls. Finger tapping differentiated between MS patients and controls but there was no significant difference between MS patients and controls on visual and auditory concentration tests. A factor analysis indicated that questionnaire measures of fatigue were interrelated but independent of objective test performance. Questionnaire measures can be used to assess fatigue in people with MS. The FSS differentiated MS patients from controls and is relatively short. It was therefore recommended for clinical use.

  17. High Intensity Exercise in Multiple Sclerosis

    DEFF Research Database (Denmark)

    Wens, Inez; Dalgas, Ulrik; Vandenabeele, Frank

    2015-01-01

    exercise groups that performed 12 weeks of a high intensity interval (HITR, n = 12) or high intensity continuous cardiovascular training (HCTR, n = 11), both in combination with resistance training. M.vastus lateralis fiber cross sectional area (CSA) and proportion, knee-flexor/extensor strength, body......±5%) and lean tissue mass (+1.4±0.5%) only increased in HITR. Finally self-reported physical activity levels increased 73±19% and 86±27% in HCTR and HITR, respectively. Conclusion High intensity cardiovascular exercise combined with resistance training was safe, well tolerated and improved muscle contractile......Introduction Low-to-moderate intensity exercise improves muscle contractile properties and endurance capacity in multiple sclerosis (MS). The impact of high intensity exercise remains unknown. Methods Thirty-four MS patients were randomized into a sedentary control group (SED, n = 11) and 2...

  18. [Treatment of multiple sclerosis symptoms and exacerbations].

    Science.gov (United States)

    Prieto González, José María

    2014-12-01

    In the last few years, there has been an explosion of new drugs acting on the clinical course of multiple sclerosis (MS) but less attention has been paid to better knowledge of the symptoms of this disease and their pathogenesis and treatment, which is essential to improve patients' quality of life. Because many patients have numerous concurrent symptoms during their clinical course, their management is complex and consequently it is important to know which symptoms are a direct result of the degenerative lesions of MS. The present article describes all the therapeutic options available for spasticity and its associated pain, paroxystic symptoms, fatigue, genitourinary disorders and sexual dysfunction, tremor, ataxia, gait disorder and cognitive impairment, with special emphasis on novel treatments. The article also defines exacerbations, how to recognize them and the available treatments, mainly oral administration of high-dose methylprednisolone and plasmapheresis. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  19. A comprehensive review of amyotrophic lateral sclerosis

    Science.gov (United States)

    Zarei, Sara; Carr, Karen; Reiley, Luz; Diaz, Kelvin; Guerra, Orleiquis; Altamirano, Pablo Fernandez; Pagani, Wilfredo; Lodin, Daud; Orozco, Gloria; Chinea, Angel

    2015-01-01

    Amyotrophic lateral sclerosis (ALS) is a late-onset fatal neurodegenerative disease affecting motor neurons with an incidence of about 1/100,000. Most ALS cases are sporadic, but 5–10% of the cases are familial ALS. Both sporadic and familial ALS (FALS) are associated with degeneration of cortical and spinal motor neurons. The etiology of ALS remains unknown. However, mutations of superoxide dismutase 1 have been known as the most common cause of FALS. In this study, we provide a comprehensive review of ALS. We cover all aspects of the disease including epidemiology, comorbidities, environmental risk factor, molecular mechanism, genetic factors, symptoms, diagnostic, treatment, and even the available supplement and management of ALS. This will provide the reader with an advantage of receiving a broad range of information about the disease. PMID:26629397

  20. Therapeutic neuroprotective agents for amyotrophic lateral sclerosis

    Science.gov (United States)

    Pandya, Rachna S.; Zhu, Haining; Li, Wei; Bowser, Robert; Friedlander, Robert M.

    2014-01-01

    Amyotrophic lateral sclerosis (ALS) is a fatal chronic neurodegenerative disease whose hallmark is proteinaceous, ubiquitinated, cytoplasmic inclusions in motor neurons and surrounding cells. Multiple mechanisms proposed as responsible for ALS pathogenesis include dysfunction of protein degradation, glutamate excitotoxicity, mitochondrial dysfunction, apoptosis, oxidative stress, and inflammation. It is therefore essential to gain a better understanding of the underlying disease etiology and search for neuroprotective agents that might delay disease onset, slow progression, prolong survival, and ultimately reduce the burden of disease. Because riluzole, the only Food and Drug Administration (FDA)-approved treatment, prolongs the ALS patient’s life by only 3 months, new therapeutic agents are urgently needed. In this review, we focus on studies of various small pharmacological compounds targeting the proposed pathogenic mechanisms of ALS and discuss their impact on disease progression. PMID:23864030

  1. Amyotrophic lateral sclerosis: update and new developments

    Science.gov (United States)

    Pratt, Ashley J; Getzoff, Elizabeth D; Perry, J Jefferson P

    2012-01-01

    Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease. It is typically characterized by adult-onset degeneration of the upper and lower motor neurons, and is usually fatal within a few years of onset. A subset of ALS patients has an inherited form of the disease, and a few of the known mutant genes identified in familial cases have also been found in sporadic forms of ALS. Precisely how the diverse ALS-linked gene products dictate the course of the disease, resulting in compromised voluntary muscular ability, is not entirely known. This review addresses the major advances that are being made in our understanding of the molecular mechanisms giving rise to the disease, which may eventually translate into new treatment options. PMID:23019386

  2. Risk factors for suicide in multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, E N; Koch-Henriksen, N; Stenager, E

    1996-01-01

    BACKGROUND: The purpose of the present study was to identify risk factors for suicide in patients with multiple sclerosis (MS). METHODS: The study is based on available information about MS patients identified in the Danish MS Registry (DMSR) with onset in the period 1950-1985. We compared the MS...... suicides with the 1950-1985 onset cohort patients in the DSMR as to distribution of age at onset, presenting symptoms, and time from onset to diagnosis. We reviewed sociodemographic data, age of onset, the course of the disease, recent deterioration, type of deterioration, Kurtzke Disability Status Scale...... made for male and female suicides and for various groups of MS suicides according to disability status. RESULTS: The male suicide patients were characterized by a tendency to commit suicide in the age interval 40-49 years, by the use of a violent suicide method, by previous suicidal behaviour...

  3. Genetic heterogeneity in tuberous sclerosis: phenotypic correlations.

    Science.gov (United States)

    Winship, I M; Connor, J M; Beighton, P H

    1990-01-01

    There is increasing evidence for genetic heterogeneity in tuberous sclerosis (TSC) on the basis of linkage analysis in affected kindreds. We have performed a detailed assessment of an affected South African family in which there is no evidence of linkage to chromosome 9 markers. The affected persons have atypical clinical features, namely prominent nuchal skin tags, a confetti pattern of hypopigmentation of the skin of the lower legs, and absence of ungual fibromata. Further investigation of these unusual phenotypic features is warranted in order to determine whether these lesions are consistently present in families in whom the gene for TSC is not on 9q34. We conclude that confetti depigmentation and nuchal skin tags may be clinical pointers to an alternative locus for TSC. Images PMID:2395158

  4. Motoneuron firing in amyotrophic lateral sclerosis (ALS

    Directory of Open Access Journals (Sweden)

    Mamede eDe Carvalho

    2014-09-01

    Full Text Available Amyotrophic lateral sclerosis is an inexorably progressive neurodegenerative disorder involving the classical motor system and the frontal effector brain, causing muscular weakness and atrophy, with variable upper motor neuron signs and often an associated fronto-temporal dementia. The physiological disturbance consequent on the motor system degeneration is beginning to be well understood. In this review we describe aspects of the motor cortical, neuronal and lower motor neuron dysfunction. We show how studies of the changes in the pattern of motor unit firing help delineate the underlying pathophysiological disturbance as the disease progresses. Such studies are beginning to illuminate the underlying disordered pathophysiological processes in the disease, and are important in designing new approaches to therapy and especially for clinical trials.

  5. Behavioral Changes in Patients with Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Mirjam R. Heldner

    2017-08-01

    Full Text Available BackgroundBehavioral changes are common in patients with multiple sclerosis (MS, however not as readily recognized as cognitive impairments.ObjectiveThe aim of this study was to analyze behavioral changes and its relation to disease characteristics, disability, and cognitive impairments in patients with MS.MethodThis is a single-center cross-sectional study. A detailed neuropsychological examination, including the Frontal Systems Behavior Scale (FrSBe, the Beck depression inventory (BDI, and the Wuerzburg Fatigue Inventory for Multiple Sclerosis (WEIMuS test, was performed. FrSBe results were correlated with disease characteristics, disability, and cognitive assessments.Results66 patients were enrolled (mean age: 43.4 years; disease duration: 9.3 years; Expanded Disability Status Scale: 3.0. Up to one third of patients showed behavioral changes in at least one domain or the total score of the FrSBe. Patients were mildly affected with regard to cognitive functioning. Consistent correlation was found between behavioral changes and fatigue (WEIMuS and depressive symptoms (BDI, but not with disease characteristics, disability, or cognitive functions. There was an increase of behavioral changes on all FrSBe scales in the current status compared to the retrospectively rated status before disease onset. Self- and family ratings with regard to current behavioral changes were similar.ConclusionBehavioral changes are common in otherwise mildly affected MS patients with up to one third being affected. In this patient cohort, behavioral changes occur largely independent of disease characteristics, physical disability, and cognitive functioning but correlate with both fatigue and depressive symptoms. Therefore, they should be tested specifically.

  6. Kidney involvement in tuberous sclerosis complex

    Directory of Open Access Journals (Sweden)

    Ebru Yılmaz

    2015-03-01

    Full Text Available Objective: Tuberous sclerosis complex (TSC is a multisystem autosomal dominant disease characterized by the development of benign neoplasia in skin, brain and kidneys. There are three particular renal disorders in TSC including renal cysts, renal angiomyolipoma and renal cell carcinoma. In the current study we aimed to investigate renal findings of TSC patients followed in our clinic. Methods: Patients’ family history, convulsion history, age, gender, physical examination findings, renal function tests, ultrasound and/or magnetic resonance imaging, results of computerized tomography, echocardiography and eye findings were found from hospital records and evaluated. Tuberous sclerosis diagnosis was made by clinical and imaging findings in 19 patients. Results: Nineteen cases were included in study. Eleven was males and the remaining 8 were females. The mean age was 75.5±65, 1 month (3 month- 18 year and follow up time was 14.6±7 month. Renal angiomyolipoma was the most commonly seen pathology alone (4 patients-21% and with renal cysts (5 patients-26.3%. Autosomal dominant polycystic kidney disease was with TSC in two patients. Four patients were presented with only simple renal cysts. Two patients had increased renal echogenicity and one patient had mild pelvicaliectasis. Ureteropelvic junction obstruction, urinary tract infection, nephrolithiasis and hemorrhages are commonly seen complications in TSC. Five patients had history of urinary tract infection. None of the patients had bleeding or rupture complication. Hypertension and end stage renal disease were not seen. Conclusion: The most commonly seen renal lesions in TSC are angiomyolipomas and kidney cysts. At the time of TSC diagnosis, all the children must be screened for renal involvement and we should remember renal findings can change with time and new findings can be added to old ones. Therefore nephrologist follow up has been done in all patients.

  7. Leg Spasticity and Ambulation in Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Swathi Balantrapu

    2014-01-01

    Full Text Available Background. Spasticity of the legs is common in multiple sclerosis (MS, but there has been limited research examining its association with ambulatory outcomes. Objective. This study examined spasticity of the legs and its association with multiple measures of ambulation in persons with MS. Methods. The sample included 84 patients with MS. Spasticity of the legs was measured using a 5-point rating scale ranging between 0 (normal and 4 (contracted. Patients completed the 6-minute walk (6 MW, timed 25 foot walk (T25FW, and timed up-and-go (TUG, and O2 cost of walking was measured during the 6 MW. The patients undertook two walking trials on a GAITRite (CIR systems, Inc. for measuring spatial and temporal parameters of gait. The patients completed the Multiple Sclerosis Walking Scale-12 (MSWS-12 and wore an accelerometer over a seven-day period. Results. 52% (n=44 of the sample presented with spasticity of the legs. Those with leg spasticity had significantly worse ambulation as measured by 6 MW (P=0.0001, d=-0.86, T25FW (P=0.003,d=0.72, TUG (P=0.001, d=0.84, MSWS-12 (P=0.0001,d=1.09, O2 cost of walking (P=0.001, d=0.75, average steps/day (P<0.05, d=-0.45, and walking velocity (P<0.05, d=-0.53 and cadence (P<0.05, d=-0.46. Conclusion. Leg spasticity was associated with impairments in ambulation, including alterations in spatiotemporal parameters and free-living walking.

  8. Total lymphoid irradiation for multiple sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Devereux, C.K.; Vidaver, R.; Hafstein, M.P.; Zito, G.; Troiano, R.; Dowling, P.C.; Cook, S.D.

    1988-01-01

    Although chemical immunosuppression has been shown to benefit patients with chronic progressive multiple sclerosis (MS), it appears that chemotherapy has an appreciable oncogenic potential in patients with multiple sclerosis. Accordingly, we developed a modified total lymphoid irradiation (TLI) regimen designed to reduce toxicity and applied it to a randomized double blind trial of TLI or sham irradiation in MS. Standard TLI regimens were modified to reduce dose to 1,980 rad, lowering the superior mantle margin to midway between the thyroid cartilage and angle of the mandible (to avert xerostomia) and the lower margin of the mantle field to the inferior margin of L1 (to reduce gastrointestinal toxicity by dividing abdominal radiation between mantle and inverted Y), limiting spinal cord dose to 1,000 rad by custom-made spine blocks in the mantle and upper 2 cm of inverted Y fields, and also protecting the left kidney even if part of the spleen were shielded. Clinical efficacy was documented by the less frequent functional scale deterioration of 20 TLI treated patients with chronic progressive MS compared to to 20 sham-irradiated progressive MS patients after 12 months (16% versus 55%, p less than 0.03), 18 months (28% versus 63%, p less than 0.03), and 24 months (44% versus 74%, N.S.). Therapeutic benefit during 3 years follow-up was related to the reduction in lymphocyte count 3 months post-irradiation (p less than 0.02). Toxicity was generally mild and transient, with no instance of xerostomia, pericarditis, herpes zoster, or need to terminate treatment in TLI patients. However, menopause was induced in 2 patients and staphylococcal pneumonia in one.

  9. Recurrent myelinoclastic diffuse sclerosis: a case report of a child with Schilder's variant of multiple sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Fitzgerald, M.J.; Coleman, L.T. [Radiology Dept., Royal Children' s Hospital, Parkville, VIC (Australia)

    2000-12-01

    Myelinoclastic diffuse sclerosis (MDS, Schilder's disease) is a rare CNS demyelinating disorder affecting mainly children and usually presenting as an intracranial mass lesion. We report the first case of recurrent intracranial MDS where the third episode of demyelination involved the cervical spinal cord. This may represent a subset of the disease, which should be considered as Schilder's variant (childhood form) of multiple sclerosis. (orig.)

  10. SUMMIT (Serially Unified Multicenter Multiple Sclerosis Investigation): creating a repository of deeply phenotyped contemporary multiple sclerosis cohorts.

    Science.gov (United States)

    Bove, Riley; Chitnis, Tanuja; Cree, Bruce Ac; Tintoré, Mar; Naegelin, Yvonne; Uitdehaag, Bernard Mj; Kappos, Ludwig; Khoury, Samia J; Montalban, Xavier; Hauser, Stephen L; Weiner, Howard L

    2017-08-01

    There is a pressing need for robust longitudinal cohort studies in the modern treatment era of multiple sclerosis. Build a multiple sclerosis (MS) cohort repository to capture the variability of disability accumulation, as well as provide the depth of characterization (clinical, radiologic, genetic, biospecimens) required to adequately model and ultimately predict a patient's course. Serially Unified Multicenter Multiple Sclerosis Investigation (SUMMIT) is an international multi-center, prospectively enrolled cohort with over a decade of comprehensive follow-up on more than 1000 patients from two large North American academic MS Centers (Brigham and Women's Hospital (Comprehensive Longitudinal Investigation of Multiple Sclerosis at the Brigham and Women's Hospital (CLIMB; BWH)) and University of California, San Francisco (Expression/genomics, Proteomics, Imaging, and Clinical (EPIC))). It is bringing online more than 2500 patients from additional international MS Centers (Basel (Universitätsspital Basel (UHB)), VU University Medical Center MS Center Amsterdam (MSCA), Multiple Sclerosis Center of Catalonia-Vall d'Hebron Hospital (Barcelona clinically isolated syndrome (CIS) cohort), and American University of Beirut Medical Center (AUBMC-Multiple Sclerosis Interdisciplinary Research (AMIR)). We provide evidence for harmonization of two of the initial cohorts in terms of the characterization of demographics, disease, and treatment-related variables; demonstrate several proof-of-principle analyses examining genetic and radiologic predictors of disease progression; and discuss the steps involved in expanding SUMMIT into a repository accessible to the broader scientific community.

  11. Primary progressive multiple sclerosis in the Polish population

    Directory of Open Access Journals (Sweden)

    Waldemar Brola

    2017-03-01

    Full Text Available Objectives: The aim of the study was the epidemiological analysis and evaluation of selected clinical and sociodemographic factors in Polish patients with primary progressive multiple sclerosis. Methods: The study included patients from 7 provinces in central and eastern Poland registered in the Registry of Patients with Multiple Sclerosis on 31 December 2016. The incidence of various forms of the disease was compared, and clinical, demographic and social disparities between relapsing-remitting and primary progressive multiple sclerosis were analysed. Results: Of 3,199 registered patients, 2,188 persons (66.2% had the relapsing-remitting form of multiple sclerosis, 774 (24.2% had the secondary progressive type and 307 (9.6% suffered from primary progressive disease. The first symptoms of primary progressive multiple sclerosis appeared almost 10 years later than in patients with the relapsing-remitting type (39.2 ± 11.4 vs. 29.8 ± 9.8. The period from the first symptoms to diagnosis was more than twice as long in patients with primary progressive multiple sclerosis (5.8 ± 3.4 as in those with relapsing-remitting disease (2.4 ± 1.6. The average degree of disability in the Expanded Disability Status Scale was similar and amounted to 3.2 ± 2.1 for relapsing-remitting and 3.6 ± 2.4 for primary progressive multiple sclerosis. The relapsing-remitting form was observed more often in women (2.4:1, and the primary progressive form appeared with equal frequency in both sexes (1:1. Disease-modifying treatment was received by 34% of patients with relapsing-remitting and in only 1.9% of patients with primary progressive multiple sclerosis. Conclusions: The primary progressive form affects approximately 10% of Polish patients with multiple sclerosis. The first symptoms appear at about 40 years of age with equal frequency in both sexes, and its diagnosis takes more than twice as much time as in the case of relapsing-remitting multiple

  12. Proteome-wide analysis and CXCL4 as a biomarker in systemic sclerosis.

    NARCIS (Netherlands)

    van Bon, L.; Affandi, A.J.; dr. Broen, J.C.A.; Christmann, R.B.; Marijnissen, R.J.; Stawski, L.; Farina, G.A.; Stifano, G.; Mathes, A.L.; Cossu, M.; York, M.; Collins, C.; Wenink, M.H.; Huijbens, R.; Hesselstrand, R.; Saxne, T.; Dimarzio, M; Wuttge, D.; Agarwal, S.K.; Reveille, J.D.; Assassi, S.; Mayes, M.D.; Deng, Y.; Drenth, J.P.; de Graaf, J.; den Heijer, M.; Kallenberg, C.G.; Bijl, M.; de Loof, A.; van der Berg, W.B.; Joosten, L.A.; Smith, V.; de Keyser, F.; Scorza, R.; Lunardi, C.; van Riel, P.L.C.M.; Vonk, M.; van Heerde, W.L.; Meller, S.; Homey, B.; Beretta, L.; Roest, M.; Trojanowska, M.; Lafyatis, R.; Radstake, T.R.D.J.; Soft Condensed Matter and Biophysics; Sub Soft Condensed Matter

    2014-01-01

    Background Plasmacytoid dendritic cells have been implicated in the pathogenesis of systemic sclerosis through mechanisms beyond the previously suggested production of type I interferon. Methods We isolated plasmacytoid dendritic cells from healthy persons and from patients with systemic sclerosis

  13. Proteome-wide analysis and CXCL4 as a biomarker in systemic sclerosis

    NARCIS (Netherlands)

    Bon, L. van; Affandi, A.J.; Broen, J.C.A.; Christmann, R.B.; Marijnissen, R.J.; Stawski, L.; Farina, G.A.; Stifano, G.; Mathes, A.L.; Cossu, M.; York, M.; Collins, C.; Wenink, M.; Huijbens, R.; Hesselstrand, R.; Saxne, T.; DiMarzio, M.; Wuttge, D.; Agarwal, S.K.; Reveille, J.D.; Assassi, S.; Mayes, M.; Deng, Y.; Drenth, J.P.H.; Graaf, J. de; Heijer, M. den; Kallenberg, C.G.M.; Bijl, M. van der; Loof, A.; Berg, W.B. van den; Joosten, L.A.B.; Smith, V.; Keyser, F. de; Scorza, R.; Lunardi, C.; Riel, P.L.C.M. van; Vonk, M.C.; Heerde, W.L. van; Meller, S.; Homey, B.; Beretta, L.; Roest, M.; Trojanowska, M.; Lafyatis, R.; Radstake, T.R.D.J.

    2014-01-01

    BACKGROUND: Plasmacytoid dendritic cells have been implicated in the pathogenesis of systemic sclerosis through mechanisms beyond the previously suggested production of type I interferon. METHODS: We isolated plasmacytoid dendritic cells from healthy persons and from patients with systemic sclerosis

  14. Vocal cord dysfunction in amyotrophic lateral sclerosis: four cases and a review of the literature

    NARCIS (Netherlands)

    van der Graaff, Maaike M.; Grolman, Wilko; Westermann, Erik J.; Boogaardt, Hans C.; Koelman, Hans; van der Kooi, Anneke J.; Tijssen, Marina A.; de Visser, Marianne

    2009-01-01

    We describe 4 patients with amyotrophic lateral sclerosis (ALS) and glottic narrowing due to vocal cord dysfunction, and review the literature found using the following search terms: amyotrophic lateral sclerosis, motor neuron disease, stridor, laryngospasm, vocal cord abductor paresis, and

  15. Brain atrophy and lesion load predict long term disability in multiple sclerosis

    DEFF Research Database (Denmark)

    Popescu, Veronica; Agosta, Federica; Hulst, Hanneke E

    2013-01-01

    To determine whether brain atrophy and lesion volumes predict subsequent 10 year clinical evolution in multiple sclerosis (MS).......To determine whether brain atrophy and lesion volumes predict subsequent 10 year clinical evolution in multiple sclerosis (MS)....

  16. Multiple Sclerosis: Hope Through Research | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... this page please turn Javascript on. Feature: Multiple Sclerosis Hope Through Research Past Issues / Spring 2012 Table ... television journalist Neil Cavuto was diagnosed with multiple sclerosis (MS) more than 15 years ago. And that ...

  17. Imaging features of encapsulating peritoneal sclerosis in continuous ambulatory peritoneal dialysis patients.

    LENUS (Irish Health Repository)

    Ti, Joanna P

    2010-07-01

    OBJECTIVE: The purpose of this article is to present the spectrum of radiologic findings of encapsulating peritoneal sclerosis in patients undergoing continuous ambulatory peritoneal dialysis (CAPD). CONCLUSION: Although a rare diagnosis, encapsulating peritoneal sclerosis in patients undergoing CAPD has a high morbidity and mortality. Diagnosis is often delayed because clinical features are insidious and nonspecific. Radiologic imaging may be helpful in the early diagnosis of encapsulating peritoneal sclerosis and in facilitating timely intervention for CAPD patients with encapsulating peritoneal sclerosis.

  18. Progressive multiple sclerosis: from pathogenic mechanisms to treatment.

    Science.gov (United States)

    Correale, Jorge; Gaitán, María I; Ysrraelit, María C; Fiol, Marcela P

    2017-03-01

    During the past decades, better understanding of relapsing-remitting multiple sclerosis disease mechanisms have led to the development of several disease-modifying therapies, reducing relapse rates and severity, through immune system modulation or suppression. In contrast, current therapeutic options for progressive multiple sclerosis remain comparatively disappointing and challenging. One possible explanation is a lack of understanding of pathogenic mechanisms driving progressive multiple sclerosis. Furthermore, diagnosis is usually retrospective, based on history of gradual neurological worsening with or without occasional relapses, minor remissions or plateaus. In addition, imaging methods as well as biomarkers are not well established. Magnetic resonance imaging studies in progressive multiple sclerosis show decreased blood-brain barrier permeability, probably reflecting compartmentalization of inflammation behind a relatively intact blood-brain barrier. Interestingly, a spectrum of inflammatory cell types infiltrates the leptomeninges during subpial cortical demyelination. Indeed, recent magnetic resonance imaging studies show leptomeningeal contrast enhancement in subjects with progressive multiple sclerosis, possibly representing an in vivo marker of inflammation associated to subpial demyelination. Treatments for progressive disease depend on underlying mechanisms causing central nervous system damage. Immunity sheltered behind an intact blood-brain barrier, energy failure, and membrane channel dysfunction may be key processes in progressive disease. Interfering with these mechanisms may provide neuroprotection and prevent disability progression, while potentially restoring activity and conduction along damaged axons by repairing myelin. Although most previous clinical trials in progressive multiple sclerosis have yielded disappointing results, important lessons have been learnt, improving the design of novel ones. This review discusses mechanisms involved

  19. Erinevate andmetöötlusmeetodite rakendamine seoste leidmiseks vealiikide vahel / Anastassia Šmõreitšik

    Index Scriptorium Estoniae

    Šmõreitšik, Anastassia

    2007-01-01

    Artiklis tutvustatakse Tallinna Ülikooli üld- ja rakenduslingvistika õppetooli Eesti vahekeele korpose töötlemiseks sobivaid meetodeid, et esile tuua vealiikide vahelisi seoseid ja täpsustada veapuu hierarhiat

  20. Märt Haamer: Tsahknal pole Overalliga mingisugust seost / Märt Haamer ; intervjueerinud Jan Jõgis-Laats

    Index Scriptorium Estoniae

    Haamer, Märt, 1973-

    2009-01-01

    Overall Eesti juhi Märt Haameri väitel pole Anders Tsahkna ühtegi riigihanget Overalli ettevõtetele suunanud. Overalli omandusse kuuluv firma Gennet Lab on olnud alltöövõtja paaris E-tervise Sihtasutuse korraldatud hankes

  1. Adie’s Tonic Pupil in Systemic Sclerosis: A Rare Association

    Directory of Open Access Journals (Sweden)

    Anusha Venkataraman

    2015-01-01

    Full Text Available We report a rare association of Adie’s tonic pupil in a patient with systemic sclerosis who was otherwise systemically stable. This paper is an effort to unravel whether the tonic pupil and systemic sclerosis are an association by chance (which may be the case or systemic sclerosis is the source of the tonic pupil.

  2. Behavioral Analysis and Rescue of a Novel Cerebellar Mouse Model of Tuberous Sclerosis Complex

    Science.gov (United States)

    2012-05-01

    Purkinje cell; Tuberous sclerosis; mouse; Tsc2; autism ; social; repetitive behavior Corresponding Author: Dr. Michael J. Gambello, MD/PhD...Keywords: Purkinje cell, Tuberous sclerosis, mouse, Tsc2, autism , social, repetitive behavior Abbreviations: Tuberous sclerosis complex (TSC...Supplemental Figure 2A). One aspect of restricted behaviors often seen in patients with autism is resistance to change (Coldren and Halloran, 2003

  3. The Challenges of Dialysis in Systemic Sclerosis: Between the Devil and the Deep Blue Sea?

    Directory of Open Access Journals (Sweden)

    N. Brown

    2012-01-01

    Full Text Available We present the case of a patient with systemic sclerosis (SSc and end stage renal disease (ESRD who experienced complications of both peritoneal and haemodialysis. We review previously reported outcomes of patients with systemic sclerosis on dialysis and discuss potential shared mechanisms in both the disease pathogenesis and dialysis-related complications, particularly with regards to encapsulating peritoneal sclerosis (EPS.

  4. Physical Telerehabilitation in Patients with Multiple Sclerosis with Significant Mobility Impairment

    Science.gov (United States)

    2017-10-01

    Award Number: W81XWH-16-1-0704 TITLE: Physical Telerehabilitation in Patients with Multiple Sclerosis with Significant Mobility Impairment...29 Sep 2017 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER Physical Telerehabilitation in Patients with Multiple Sclerosis with Significant Mobility...benefits of physical rehabilitation in patients with multiple sclerosis with significant mobility impairment (PwMSMI). The purpose of this project

  5. 75 FR 35711 - Schedule for Rating Disabilities; Evaluation of Amyotrophic Lateral Sclerosis

    Science.gov (United States)

    2010-06-23

    ... Sclerosis AGENCY: Department of Veterans Affairs. ACTION: Proposed rule. SUMMARY: The Department of Veterans... for amyotrophic lateral sclerosis (ALS) to provide a 100-percent evaluation for any veteran with... Sclerosis.'' Copies of comments received will be available for public inspection in the Office of Regulation...

  6. 76 FR 78823 - Schedule for Rating Disabilities; Evaluation of Amyotrophic Lateral Sclerosis

    Science.gov (United States)

    2011-12-20

    ... Sclerosis AGENCY: Department of Veterans Affairs. ACTION: Final rule. SUMMARY: The Department of Veterans... criterion provided for amyotrophic lateral sclerosis (ALS) to provide an evaluation of 100 percent for any... revise the evaluation criterion for amyotrophic lateral sclerosis (ALS) in the VA Schedule for Rating...

  7. 38 CFR 3.318 - Presumptive service connection for amyotrophic lateral sclerosis.

    Science.gov (United States)

    2010-07-01

    ... connection for amyotrophic lateral sclerosis. 3.318 Section 3.318 Pensions, Bonuses, and Veterans' Relief... sclerosis. (a) Except as provided in paragraph (b) of this section, the development of amyotrophic lateral sclerosis manifested at any time after discharge or release from active military, naval, or air service is...

  8. Cognitive-Linguistic Deficit and Speech Intelligibility in Chronic Progressive Multiple Sclerosis

    Science.gov (United States)

    Mackenzie, Catherine; Green, Jan

    2009-01-01

    Background: Multiple sclerosis is a disabling neurological disease with varied symptoms, including dysarthria and cognitive and linguistic impairments. Association between dysarthria and cognitive-linguistic deficit has not been explored in clinical multiple sclerosis studies. Aims: In patients with chronic progressive multiple sclerosis, the…

  9. Exercise and disease progression in multiple sclerosis: can exercise slow down the progression of multiple sclerosis?

    DEFF Research Database (Denmark)

    Dalgas, Ulrik; Stenager, Egon

    2012-01-01

    It has been suggested that exercise (or physical activity) might have the potential to have an impact on multiple sclerosis (MS) pathology and thereby slow down the disease process in MS patients. The objective of this literature review was to identify the literature linking physical exercise (or...... studies evaluating the effects on clinical outcome measures, (2) cross-sectional studies evaluating the relationship between fitness status and MRI findings, (3) cross-sectional and longitudinal studies evaluating the relationship between exercise/physical activity and disability/relapse rate and, finally...

  10. Epidemiology of multiple sclerosis in US veterans. VIII. Long-term survival after onset of multiple sclerosis.

    Science.gov (United States)

    Wallin, M T; Page, W F; Kurtzke, J F

    2000-08-01

    Survival to 1996 was analysed for nearly 2500 veterans of World War II who were rated as 'service-connected' for multiple sclerosis as of 1956 by the then Veterans Administration. Survival from onset was defined for all white women and black men, and a random sample of white men. Median survival times from onset were 43 years (white females), 30 years (black males) and 34 years (white males). Crude 50-year survival rates were 31.5% (white females), 21.5% (black males) and 16.6% (white males), but only the white females and white males were significantly different. A proportional hazard analysis was used to identify risk factors for mortality from multiple sclerosis onset year. Significant risk factors included male sex (risk ratio: 1.57), older age at onset (risk ratio: 1.05 per year) and high socioeconomic status (risk ratio: 1.05 per socioeconomic status category). There were no statistically significant differences in survival following multiple sclerosis onset by race or latitude of place of entry into military service, both significant risk factors associated with the development of multiple sclerosis. Standardized mortality ratios utilizing national US data (for 1956-96) showed a marked excess for all three race-sex groups of multiple sclerosis cases, with little difference among them, but with a decreasing excess over time. Relative survival rates, used to compare the survival of multiple sclerosis cases with that of other military veterans, did not differ significantly by sex-race group, nor by latitude of place of entry into military service, but did differ significantly by socioeconomic class. The lack of difference in male and female relative survival rates suggests that the significant difference in survival between male and female multiple sclerosis cases is, at least in part, a result of sex per se and not the disease.

  11. Total lymphoid irradiation in multiple sclerosis.

    Science.gov (United States)

    Wiles, C M; Omar, L; Swan, A V; Sawle, G; Frankel, J; Grunewald, R; Joannides, T; Jones, P; Laing, H; Richardson, P H

    1994-01-01

    Following a report of the efficacy of total lymphoid irradiation (TLI) in the treatment of chronic progressive multiple sclerosis a further randomised double-blind placebo-controlled study was undertaken with the intention of entering 56 patients. In the event it was possible to recruit only 27 patients in a 2.5 year period. Three patients received active treatment openly and 24 were randomised to either active (14) or sham (10) treatment. Treatment was 1980 cGy to the lymphoid system and spleen or sham treatment after full simulation. The primary outcome measure was a comparison of the mean rates of change between treatment groups on the expanded Kurtzke disability scale (EDSS) over the two year follow up period. Patients were also assessed on other clinical outcome measures, psychometry, and serial MRI of the brain. Active treatment resulted in a profound and prolonged fall in T lymphocytes especially those with the CD4 marker and a reversal in CD4:CD8 ratio. No significant benefit was demonstrated on the rate of clinical disease progression (EDSS). A small but significant benefit was found on a score of bladder function. No significant benefit was demonstrated on other clinical or psychometric indices or on subjective visual analogue scales. There was a small but significant difference in the rate of accumulation of lesions on brain MRI favouring the treatment group. The treated group had a higher incidence of clinically relevant side effects, notably amenorrhoea and infections: three deaths (one in the TLI group, two in the sham treated group) occurred. A post hoc calculation indicates that the study had a possible 35% risk of a false negative result using the principal outcome measure. The study fails to confirm the previously reported clinical benefit of TLI although there may be a minor benefit on disease progression as indicated by MRI lesion counts. It is concluded that TLI cannot be recommended for the routine treatment of chronic progressive multiple

  12. Comorbidity in US patients with multiple sclerosis

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    Edwards NC

    2018-02-01

    Full Text Available Natalie C Edwards,1 Michael Munsell,2 Joseph Menzin,2 Amy L Phillips3 1Health Services Consulting Corporation (NCE, Boxborough, MA, USA; 2Boston Health Economics, Inc., Waltham, MA, USA; 3EMD Serono, Inc., Rockland, MA, USA Objective: To assess the trends in the prevalence of comorbidities in US patients with multiple sclerosis (MS, and the association of demographic characteristics with the presence of comorbidities. Study design: A retrospective analysis was conducted from a sample of 5 million patients from the IMS Health Real World Data Adjudicated Claims – US database.Methods: Comorbidity in patients with MS was assessed by year (2006–2014, and logistic regression models evaluated the association of age, sex, and region with select comorbidities.Results: The most common comorbidities from 2006 to 2014 were hyperlipidemia and hypertension (25.9%–29.7% of patients within an individual year, followed by gastrointestinal disease (18.4%–21.2% of patients and thyroid disease (12.9%–17.1% of patients. The proportion with a claim for hyperlipidemia increased from 2006 to 2009, was stable from 2009 to 2011, and then declined from 2011 to 2014. The proportion with a claim for hypertension generally increased from 2006 to 2013, then declined from 2013 to 2014. The proportion with a claim for gastrointestinal disease, thyroid disease, and anxiety generally increased from 2006 to 2014. Claims for comorbidities were statistically significantly more likely among older age groups (p<0.05, with the exception of anxiety and alcohol abuse, which were statistically significantly less likely among older age groups. Claims for gastrointestinal disease (OR=0.75, thyroid disease (OR=0.36, chronic lung disease (OR=0.76, arthritis (OR=0.71, anxiety (OR=0.63, and depression (OR=0.69 were statistically significantly less likely among males versus females (all p<0.05. Claims for hyperlipidemia (OR=1.39, hypertension (OR=1.25, diabetes (OR=1.31, and alcohol

  13. Tomography patterns of lung disease in systemic sclerosis

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    Bastos, Andrea de Lima; Correa, Ricardo de Amorim; Ferreira, Gilda Aparecida, E-mail: andrealb@ufmg.br [Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG (Brazil). Faculdade de Medicina

    2016-09-15

    Currently, lung impairment is the leading factor responsible for the morbidity and mortality associated with systemic sclerosis. Therefore, the recognition of the various tomography patterns becomes decisive in the clinical management of these patients. In high-resolution computed tomography studies, the most common pattern is that of nonspecific interstitial pneumonia. However, there are other forms of lung involvement that must also be recognized. The aim of this study was to review the literature on the main changes resulting from pulmonary involvement in systemic sclerosis and the corresponding radiological findings, considering the current classification of interstitial diseases. We searched the Medline (PubMed), Lilacs, and SciELO databases in order to select articles related to pulmonary changes in systemic sclerosis and published in English between 2000 and 2015. The pulmonary changes seen on computed tomography in systemic sclerosis are varied and are divided into three main categories: interstitial, alveolar, and vascular. Interstitial changes constitute the most common type of pulmonary involvement in systemic sclerosis. However, alveolar and vascular manifestations must also be recognized and considered in the presence of atypical clinical presentations and inadequate treatment responses. (author)

  14. Tomography patterns of lung disease in systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Andréa de Lima Bastos

    Full Text Available Abstract Currently, lung impairment is the leading factor responsible for the morbidity and mortality associated with systemic sclerosis. Therefore, the recognition of the various tomography patterns becomes decisive in the clinical management of these patients. In high-resolution computed tomography studies, the most common pattern is that of nonspecific interstitial pneumonia. However, there are other forms of lung involvement that must also be recognized. The aim of this study was to review the literature on the main changes resulting from pulmonary involvement in systemic sclerosis and the corresponding radiological findings, considering the current classification of interstitial diseases. We searched the Medline (PubMed, Lilacs, and SciELO databases in order to select articles related to pulmonary changes in systemic sclerosis and published in English between 2000 and 2015. The pulmonary changes seen on computed tomography in systemic sclerosis are varied and are divided into three main categories: interstitial, alveolar, and vascular. Interstitial changes constitute the most common type of pulmonary involvement in systemic sclerosis. However, alveolar and vascular manifestations must also be recognized and considered in the presence of atypical clinical presentations and inadequate treatment responses.

  15. Lockhart Clarke's contribution to the description of amyotrophic lateral sclerosis.

    Science.gov (United States)

    Turner, Martin R; Swash, Michael; Ebers, George C

    2010-11-01

    The definition of the clinicopathological entity of amyotrophic lateral sclerosis evolved over half a century. Although the definitive term amyotrophic lateral sclerosis that acknowledged both upper and lower motor neuron involvement was attributed to Jean-Martin Charcot in 1874, his initial case was published nearly a decade earlier; and it is accepted that, from at least the 1830s, several others (including Charles Bell, François-Amilcar Aran and Jean Cruveilhier) had already recognized a progressive lower motor neuron-only syndrome within a broader, clinically-defined group of disorders, termed progressive muscular atrophy. Although William Gowers first grouped the three phenotypes of amyotrophic lateral sclerosis, progressive muscular atrophy and progressive bulbar palsy together as part of the same syndrome, the term motor neuron disease, as an over-arching label, was not suggested until nearly a century later by W. Russell Brain. Augustus Jacob Lockhart Clarke (1817-80) is best known for his descriptions of spinal cord anatomy. However, in two detailed case reports from the 1860s, he carried out rigorous post-mortem neuropathological studies of what appear to be classical cases of amyotrophic lateral sclerosis. Furthermore, he recognized the additional involvement of the corticospinal tracts that distinguished this from progressive muscular atrophy. Several aspects of the exquisite clinical histories documented as part of both studies, one by Charles Bland Radcliffe, resonate with contemporary debates concerning the evolution of disease in amyotrophic lateral sclerosis. These 'past masters' still have much to teach us.

  16. Therapeutic use of sport climbing for patients with multiple sclerosis

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    Ana Ožura

    2009-05-01

    Full Text Available Sport climbing is a form of exercise that requires complex and variable movement. Because of the use of the so-called "top-rope system", this is a safe activity appropriate for individuals with physical disabilities. Therefore, climbing might prove to be an effective form of therapy for patients with multiple sclerosis. Multiple sclerosis is a chronic neurological disease that may include motor and cognitive deficits as well as affective disturbances. The illness is characterized by multifocal areas of brain damage (plaques, as consequence of autoimmune inflammation. Sport climbing might be a potentially useful activity for treating spasticity, improving a person's self image and certain aspects of cognition, such as attention and executive functions, as well as for managing emotional disturbances. All of the above are areas where patients with multiple sclerosis might be in need of assistance. The article also describes the experience of a patient with multiple sclerosis who was enrolled in our climbing program. Future research is needed to evaluate the effect of climbing therapy for patients with multiple sclerosis.

  17. Vision and vision-related outcome measures in multiple sclerosis

    Science.gov (United States)

    Balcer, Laura J.; Miller, David H.; Reingold, Stephen C.

    2015-01-01

    Visual impairment is a key manifestation of multiple sclerosis. Acute optic neuritis is a common, often presenting manifestation, but visual deficits and structural loss of retinal axonal and neuronal integrity can occur even without a history of optic neuritis. Interest in vision in multiple sclerosis is growing, partially in response to the development of sensitive visual function tests, structural markers such as optical coherence tomography and magnetic resonance imaging, and quality of life measures that give clinical meaning to the structure-function correlations that are unique to the afferent visual pathway. Abnormal eye movements also are common in multiple sclerosis, but quantitative assessment methods that can be applied in practice and clinical trials are not readily available. We summarize here a comprehensive literature search and the discussion at a recent international meeting of investigators involved in the development and study of visual outcomes in multiple sclerosis, which had, as its overriding goals, to review the state of the field and identify areas for future research. We review data and principles to help us understand the importance of vision as a model for outcomes assessment in clinical practice and therapeutic trials in multiple sclerosis. PMID:25433914

  18. Vision and driving in multiple sclerosis.

    Science.gov (United States)

    Schultheis, Maria T; Manning, Kevin; Weisser, Valerie; Blasco, Alison; Ang, Jocelyn; Wilkinson, Mark E

    2010-02-01

    To examine the relationship between measures of visual dysfunction and driving performance in persons with multiple sclerosis (MS). Between-group comparison. All data were collected in an outpatient research setting. Persons (N=66) with MS of the relapsing remitting type (26 self-reporting visual difficulties; 40 self-reporting no visual difficulties) and 26 age- and sex-matched healthy controls. Not applicable. Measures of vision included visual acuity, depth perception, and color perception. Driving was measured using documented accident/violation rate and self-reported driving behaviors. Quantitative analysis only revealed that MS persons with self-reported visual difficulties performed significantly worse than healthy controls on color perception (Kruskal-Wallis; chi(2)(2)=8.89, P=.01). There were no group differences on driving behaviors, and correlational analysis revealed a lack of relationship between the selected visual (visual acuity, depth perception, color perception) and driving performance measures (documented accident/violation rate and self-limiting driving behaviors). Persons with MS who self-reported difficulties with vision had acceptable visual acuity, despite demonstrating impairment in color perception. The fact that visual acuity remains the most common measure for visual fitness to drive remains problematic. There is a need to further define measures of visual dysfunction relevant to driving among this clinical population. Copyright 2010 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  19. Multiple sclerosis in India: Iceberg or volcano.

    Science.gov (United States)

    Zahoor, Insha; Haq, Ehtishamul

    2017-06-15

    Multiple sclerosis (MS) 1 is a chronic neurodegenerative disease involving destruction of the myelin sheath around axons of the brain, spinal cord and optic nerve. There has been a tremendous transformation in its perspective across globe. In recent years, its prevalence has changed dramatically worldwide and India is no exception. Initially, MS was believed to be more common in the Caucasians of Northern Europe and United States; however, it has been found to be present in Indian subcontinent as well. There has been a considerable shift in MS prevalence in India and this has really changed the notion of considering India as a low risk zone for MS. In this review, a concise overview and latest update on changing scenario of MS in India is presented along with some major challenges regarding it persisting across globe even today. In India, remarkable upsurge is needed in carrying out large scale population-based epidemiological studies to get an idea about the true incidence and prevalence rates of MS viz a viz disease burden. Through this review, we have probably tried to identify the actual picture of MS prevalence in India and this could serve as harbinger for upcoming research and at the same time it would definitely aid in working out future strategies for MS management in the country. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. [Teriflunomide for treatment of multiple sclerosis].

    Science.gov (United States)

    Warnke, C; Meyer Zu Hörste, G; Menge, T; Stüve, O; Hartung, H-P; Wiendl, H; Kieseier, B C

    2013-06-01

    Interferon beta and glatiramer acetate are still considered to be the first-line therapeutics for treatment of relapsing forms of multiple sclerosis (MS). The use of new compounds, such as natalizumab or fingolimod, is restricted to severe forms of relapsing MS or cases refractory to first-line treatment owing to substance-specific risk-benefit considerations. Teriflunomide is a new compound which has recently been approved as a first-line treatment of relapsing forms of MS in the USA and Australia. It is characterized by a once daily oral administration and a comparably well-established long-term safety profile. The main therapeutic effect is considered to be mediated via the inhibition of the de novo synthesis of pyrimidine in proliferating immune cells. The pro-drug of teriflunomide, leflunomide, has a label for treating rheumatoid arthritis (RA) for many years. Two recently published phase III clinical trials (TEMSO, TOWER) tested teriflunomide in patients with relapsing forms of MS and efficacy was demonstrated, with positive effects on relapse rates and disease progression using 14 mg/day. Overall, the safety profile in these studies was favorable as expected from experiences with leflunomide in RA. In patients treated with teriflunomide regular monitoring of blood cell counts and liver enzymes is required. Teriflunomide must not be used during pregnancy. In this article the recent phase II and phase III clinical trial data are reviewed and the potential of teriflunomide for the treatment of relapsing forms of MS is discussed.

  1. Nutrition management of amyotrophic lateral sclerosis.

    Science.gov (United States)

    Greenwood, Daniel I

    2013-06-01

    Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease with high risk of malnutrition. Symptoms of dysphagia, depression, cognitive impairment, difficulty with self-feeding and meal preparation, hypermetabolism, anxiety, respiratory insufficiency, and fatigue with meals increase the risk of malnutrition. Malnutrition negatively affects prognosis and quality of life, making early and frequent nutrition assessment and intervention essential. Implementation of an adequate calorie diet, dietary texture modification, use of adaptive eating utensils, and placement of a feeding tube aid in preventing malnutrition. When nutrition status is compromised by dysphagia and weight loss (5%-10% of usual body weight) or body mass index 50%, a percutaneous endoscopic gastrostomy placement is indicated. When forced vital capacity is respiratory risk. Parenteral nutrition (PN) is indicated only when enteral nutrition (EN) is contraindicated or impossible. This article reviews the background of ALS, nutrition implications and risk of malnutrition, treatment strategies to prevent malnutrition, the role of EN and PN, and feeding tube placement methods according to disease stage.

  2. A toolbox for multiple sclerosis lesion segmentation

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    Roura, Eloy; Oliver, Arnau; Valverde, Sergi; Llado, Xavier [University of Girona, Computer Vision and Robotics Group, Girona (Spain); Cabezas, Mariano; Pareto, Deborah; Rovira, Alex [Vall d' Hebron University Hospital, Magnetic Resonance Unit, Dept. of Radiology, Barcelona (Spain); Vilanova, Joan C. [Girona Magnetic Resonance Center, Girona (Spain); Ramio-Torrenta, Lluis [Dr. Josep Trueta University Hospital, Institut d' Investigacio Biomedica de Girona, Multiple Sclerosis and Neuroimmunology Unit, Girona (Spain)

    2015-10-15

    Lesion segmentation plays an important role in the diagnosis and follow-up of multiple sclerosis (MS). This task is very time-consuming and subject to intra- and inter-rater variability. In this paper, we present a new tool for automated MS lesion segmentation using T1w and fluid-attenuated inversion recovery (FLAIR) images. Our approach is based on two main steps, initial brain tissue segmentation according to the gray matter (GM), white matter (WM), and cerebrospinal fluid (CSF) performed in T1w images, followed by a second step where the lesions are segmented as outliers to the normal apparent GM brain tissue on the FLAIR image. The tool has been validated using data from more than 100 MS patients acquired with different scanners and at different magnetic field strengths. Quantitative evaluation provided a better performance in terms of precision while maintaining similar results on sensitivity and Dice similarity measures compared with those of other approaches. Our tool is implemented as a publicly available SPM8/12 extension that can be used by both the medical and research communities. (orig.)

  3. Connective tissue diseases mimicking multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Maryam Moghaddassi-Jahromi

    2011-11-01

    Full Text Available Background: Connective tissue diseases (CTD can involve nervous system. Diagnosis and differentiation from multiple sclerosis (MS can be difficult especially when the disease presented by symptoms and signs related to demyelinating process. The aim of this article is to review the variant forms of central nervous system involvement in CTD especially useful points for differentiation from demyelinating disorders. Materials and Method: We used the relevant articles in PUBMED, Scopus and other databases especially published in recent ten years. Results: Systemic lupus erythematosus (SLE, antiphospholipid syndrome (APS, Behcet’s disease (BD, Sjogren's syndrome (SS, and some vasculitides can involve nervous system. Patients may be present by demyelination areas in the white matter of the brain and spinal cord, which are difficult to differentiate from MS and other demyelinating processes, such as transverse myelitis and optic neuritis. On the other hand, autoantibodies such as antinuclear antibodies (ANA and antiphospholipid antibodies (aPL can also occur in MS. Treatment and prognosis of these diseases are quite different. In demyelinating diseases the diagnosis is established on the basis of clinical presentation, magnetic resonance imaging (MRI, cerebrospinal fluid (CSF examination, visual evoked potentials (VEP and autoantibody investigation.Conclusion: In many patients, distinction between different etiologies of demyelination can be made by considering clinical and paraclinical data, but in some cases, accurate diagnosis can only be made after long-term follow-up

  4. Selective attention impairment in amyotrophic lateral sclerosis.

    Science.gov (United States)

    Volpato, Chiara; Prats Sedano, Maria Angeles; Silvoni, Stefano; Segato, Nicoletta; Cavinato, Marianna; Merico, Antonio; Piccione, Francesco; Palmieri, Arianna; Birbaumer, Niels

    2016-01-01

    Objective of this study was to evaluate attentional control mechanisms in amyotrophic lateral sclerosis (ALS) using an auditory event-related potentials (ERPs) paradigm. Fifteen mild to moderate ALS patients and 15 healthy controls were administered a brief neuropsychological test battery and an ERPs paradigm assessing selective attention. Four types of auditory stimuli were presented in random order: short standard (200 Hz, 200 ms), long standard (200 Hz, 500 ms), short deviant (1000 Hz, 200 ms) and long deviant (1000 Hz, 500 ms). Participants had to respond to the long deviant stimuli only. During the task the electroencephalogram (EEG) was recorded. The N200, P300 and re-orienting negativity (RON) ERP components were analysed. Compared to controls ALS patients showed reduced amplitudes and delayed latencies of N200, P300 and RON. These results could be attributable to both an alteration in change detection resulting in a reduction of the allocation and re-orientation of attentional resources or a general slowing or reduction of neural processing efficiency in the same system. The ERPs results support the hypothesis that ALS involves extramotor cognitive functions including auditory attentional processing at all processing stages, early (200 ms) and late (300-600 ms). These data prove the usefulness and sensitivity of the auditory ERPs in detection of cognitive functions in ALS patients.

  5. Gait termination in individuals with multiple sclerosis.

    Science.gov (United States)

    Roeing, Kathleen L; Wajda, Douglas A; Motl, Robert W; Sosnoff, Jacob J

    2015-09-01

    Despite the ubiquitous nature of gait impairment in multiple sclerosis (MS), there is limited information concerning the control of gait termination in individuals with MS. The purpose of this investigation was to examine planned gait termination in individuals with MS and healthy controls with and without cognitive distractors. Individuals with MS and age matched controls completed a series of gait termination tasks over a pressure sensitive walkway under non-distracting and cognitively distracting conditions. As expected the MS group had a lower velocity (89.9±33.3 cm/s) than controls (142.8±22.4 cm/s) and there was a significant reduction in velocity in both groups under the cognitive distracting conditions (MS: 73.9±30.7 cm/s; control: 120.0±25.9 cm/s). Although individuals with MS walked slower, there was no difference between groups in the rate a participant failed to stop at the target (i.e. failure rate). Overall failure rate had a 10-fold increase in the cognitively distracting condition across groups. Individuals with MS were more unstable during termination. Future research examining the neuromuscular mechanisms contributing to gait termination is warranted. Copyright © 2015 Elsevier B.V. All rights reserved.

  6. [Psychological issues related to multiple sclerosis].

    Science.gov (United States)

    Bianconi, G; Poggioli, E; Merelli, E; Razzaboni, E; Comelli, D

    2006-01-01

    This study sought to investigate some psychological issues related to multiple sclerosis (MS), in particular, the relations existing between illness representations, personality factors and coping strategies and, consequently, the specific coping strategies employed in adjusting emotionally to MS. Sixty-nine MS patients attending the University Polyclinic of Modena were administered the following battery: a questionnaire regarding demographic and illness features, the Illness Perception Questionnaire-Revised (IPQ-R), the Coping Orientations to Problems Experienced Questionnaire (COPE) and Cognitive Behavioural Assessment Hospital Form (CBA-H). Patients' physical disability level was also evaluated using the Expanded Disability Status Scale (EDSS). Results suggest that personality factors and patients' perception of their illness play an important role in activating one or other type of coping strategy. Regarding problem-focused coping strategies, the most significant predictors that emerged from stepwise linear multiple regression analysis were perception of the disease as cyclical (timeline cyclical dimension) and a low score in neuroticism, indicating good emotional stability of the subject. For emotion-centered coping strategies, the regression model identified as best predictors: the belief that chance or bad luck are the most important causes of the illness, perception of the disease as cyclical, extroversion and a cooperative mode of interacting with others, and the presence of interpersonal difficulties. Finally, with regard to disadaptive coping strategies, the best predictors resulting from the analysis were, once again, perception of the disease as cyclical, and interpersonal difficulties.

  7. Coexistence of systemic sclerosis and sarcoidosis.

    Science.gov (United States)

    Godziszewska, Sabina; Widuchowska, Małgorzata; Kopeć-Mędrek, Magdalena; Kucharz, Eugeniusz Józef

    Coexistence of systemic sclerosis (SSc) and sarcoidosis (SA) is rarely reported; 21 cases only were reported in the English medical literature before 2011. It is suggested that low incidence of overlap syndrome of SSc with SA is resulted from different immune mechanisms involved in pathogenesis of the diseases. In SSc patients, a role of Th2 lymphocytes is suggested while in patients with SA such role is attributed to Th1 lymphocytes. The paper presents a 47-year-old woman suffering from SSc for over 6 years. CT scan of the lungs revealed the nodulus of the right lung and enlarged mediastinal lymphatic nodes. Pathologic evaluation of the nodulus provided basis for diagnosis of sarcoidosis. Diagnosis of SSc was based on clinical and capilaroscopic evaluation as well as detection of anti-topoisomerase I antibodies. In the course of the disease, fibrosis of the lung, pulmonary hypertension and cardiac abnormalities with rhythm disturbances were developed. Treatment included cyclophosphamide, mycophenolate mofetil, sildenafil, losartan. Stabilization of the general state of the patient was achieved.

  8. Cognitive impairment in relapsing remitting Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Saška Roškar

    2003-06-01

    Full Text Available The purpose of the study was to identify changes in cognitive abilities that affect patients with relapsing remitting form of multiple sclerosis (MS and to find out which instrument manifests them best. The performance of MS patients was compared to a matched group of healthy people using three neuropsychological tests: Wisconsin card sorting test (WCST, Stroop color and word test and Trail making test (TMT part B. Results on all three tests indicate general cognitive impairments in the group of patients. Compared to the group of healthy people patients with MS exhibited impaired ability of abstract reasoning (WCST, impaired cognitive flexibility and less resistance to irrelevant stimuli (Stroop color and word test, slowed information processing and impaired ability of shifting attention from one symbol to another (TMT. The largest differences between groups occured in Stroop color and word test as well as in TMT. The estimation of cognitive abilities of MS patients is of high importance and sistematicaly observing of changes in those abilities should be considered.

  9. Treatment of sialorrhea in amyotrophic lateral sclerosis.

    Science.gov (United States)

    Tysnes, O-B

    2008-01-01

    Amyotrophic lateral sclerosis (ALS) is a devastating progressive disease of all voluntary muscles. Bulbar symptoms with reduced ability to swallow occur frequently and may also be an early symptom. For some patients drooling may represent a severe social problem. To review the literature on treatment of sialorrhea in ALS and describe possible treatments. PubMed was searched combining the words amyotrophic or ALS with sialorrhea or drooling. Publications more recent than 2000 were selected. A total of 31 publications were found. Of these, 22 are from 2000 or later. Thirteen of the 22 most recent publications are original papers whereas 9 are review articles. Of the original articles, four describe treatment of sialorrhea with radiotherapy, five describe effects of botolinum toxin injections into the salivary grands and two describe serious side-effects of botolinum toxin injections for sialorrhea in ALS. The remaining original articles are case descriptions or practice surveys. The treatment of sialorrhea in ALS is discussed in the view of current knowledge.

  10. Stem cell treatment in Amyotrophic Lateral Sclerosis.

    Science.gov (United States)

    Mazzini, Letizia; Mareschi, Katia; Ferrero, Ivana; Vassallo, Elena; Oliveri, Giuseppe; Nasuelli, Nicola; Oggioni, Gaia Donata; Testa, Lucia; Fagioli, Franca

    2008-02-15

    Amyotrophic Lateral Sclerosis is a progressive fatal neurodegenerative disease that targets motor neurons. Its origin is unknown but a main role of reactive astrogliosis and microglia activation in the pathogenesis has been recently demonstrated. Surrounding neurons with healthy adjoining cells completely stops motor neuron death in some cases. Hence stem cell transplantation might represent a promising therapeutic strategy. In this study MSCs were isolated from bone marrow of 9 patients with definite ALS. Growth kinetics, immunophenotype, telomere length and karyotype were evaluated during in vitro expansion. No significant differences between donors or patients were observed. The patients received intraspinal injections of autologous MSCs at the thoracic level and monitored for 4 years. No significant acute or late side effects were evidenced. No modification of the spinal cord volume or other signs of abnormal cell proliferation were observed. Four patients show a significant slowing down of the linear decline of the forced vital capacity and of the ALS-FRS score. Our results seem to demonstrate that MSCs represent a good chance for stem cell cell-based therapy in ALS and that intraspinal injection of MSCs is safe also in the long term. A new phase 1 study is carried out to verify these data in a larger number of patients.

  11. Radiotherapy reduces sialorrhea in amyotrophic lateral sclerosis.

    Science.gov (United States)

    Neppelberg, E; Haugen, D F; Thorsen, L; Tysnes, O-B

    2007-12-01

    Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. Sialorrhea is a frequent problem in ALS patients with bulbar symptoms, because of progressive weakness of oral, lingual and pharyngeal muscles. This prospective study aimed to investigate the putative effect of palliative single-dose radiotherapy on problematic sialorrhea in patients with ALS. Twenty patients with ALS and problematic drooling were included; 14 were given radiotherapy with a single fraction of 7.5 Grey (Gy). Five patients were treated with botulinum toxin A (BTX-A) injections (20 U) into the parotid glands; two of these were later given radiotherapy. Symptom assessment, clinical examination and measurements of salivary flow (ml/min) were performed before and after treatment (1-2 weeks, 3 months). Salivary secretion was significantly reduced after radiation treatment, with a mean reduction of 60% (1 week) and 51% (2 weeks). Three months post-treatment, 21% reduction of the salivary secretion was observed compared with salivation before treatment. Mean salivary flow was not reduced after BTX-A treatment in five patients. No serious side-effects were observed with either of the two treatment modalities. Single-dose radiotherapy (7.5 Gy) significantly reduces sialorrhea and is an effective and safe palliative treatment in patients with ALS.

  12. Tuberous sclerosis complex proteins control axon formation.

    Science.gov (United States)

    Choi, Yong-Jin; Di Nardo, Alessia; Kramvis, Ioannis; Meikle, Lynsey; Kwiatkowski, David J; Sahin, Mustafa; He, Xi

    2008-09-15

    Axon formation is fundamental for brain development and function. TSC1 and TSC2 are two genes, mutations in which cause tuberous sclerosis complex (TSC), a disease characterized by tumor predisposition and neurological abnormalities including epilepsy, mental retardation, and autism. Here we show that Tsc1 and Tsc2 have critical functions in mammalian axon formation and growth. Overexpression of Tsc1/Tsc2 suppresses axon formation, whereas a lack of Tsc1 or Tsc2 function induces ectopic axons in vitro and in the mouse brain. Tsc2 is phosphorylated and inhibited in the axon but not dendrites. Inactivation of Tsc1/Tsc2 promotes axonal growth, at least in part, via up-regulation of neuronal polarity SAD kinase, which is also elevated in cortical tubers of a TSC patient. Our results reveal key roles of TSC1/TSC2 in neuronal polarity, suggest a common pathway regulating polarization/growth in neurons and cell size in other tissues, and have implications for the understanding of the pathogenesis of TSC and associated neurological disorders and for axonal regeneration.

  13. Tumefactive multiple sclerosis: an uncommon diagnostic challenge.

    Science.gov (United States)

    Kaeser, Martha A; Scali, Frank; Lanzisera, Frank P; Bub, Glenn A; Kettner, Norman W

    2011-03-01

    This case report describes a rare presentation of multiple sclerosis (MS) that was initially diagnosed as a peripheral nerve lesion in the emergency department. A 30-year-old woman presented to a chiropractic teaching clinic with a complaint of a sudden right foot drop. Magnetic resonance imaging of the brain revealed a large mass in the left parietal lobe with additional white matter lesions. The mass and smaller lesions were consistent with a rare presentation of demyelinating disease, tumefactive MS. The patient was referred to a neurologist for further evaluation and treatment. Her short-term clinical course was punctuated by recurrent myospasms and neurologic deficits. Tumefactive MS may mimic the clinical and magnetic resonance imaging characteristics of glioma or a cerebral abscess. The clinical presentation, pathophysiology, differential diagnosis, role of diagnostic imaging, and treatment options of MS are described. This case report illustrates that the timely diagnosis and optimal treatment of MS require recognition of its varied, sometimes atypical, and often nonspecific clinical and imaging manifestations. Copyright © 2011 National University of Health Sciences. Published by Elsevier Inc. All rights reserved.

  14. Redox Regulation in Amyotrophic Lateral Sclerosis

    Directory of Open Access Journals (Sweden)

    Sonam Parakh

    2013-01-01

    Full Text Available Amyotrophic lateral sclerosis (ALS is a neurodegenerative disease that results from the death of upper and lower motor neurons. Due to a lack of effective treatment, it is imperative to understand the underlying mechanisms and processes involved in disease progression. Regulations in cellular reduction/oxidation (redox processes are being increasingly implicated in disease. Here we discuss the possible involvement of redox dysregulation in the pathophysiology of ALS, either as a cause of cellular abnormalities or a consequence. We focus on its possible role in oxidative stress, protein misfolding, glutamate excitotoxicity, lipid peroxidation and cholesterol esterification, mitochondrial dysfunction, impaired axonal transport and neurofilament aggregation, autophagic stress, and endoplasmic reticulum (ER stress. We also speculate that an ER chaperone protein disulphide isomerase (PDI could play a key role in this dysregulation. PDI is essential for normal protein folding by oxidation and reduction of disulphide bonds, and hence any disruption to this process may have consequences for motor neurons. Addressing the mechanism underlying redox regulation and dysregulation may therefore help to unravel the molecular mechanism involved in ALS.

  15. Plasma exchange in progressive systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Mohammad Bagher Owlia

    2015-10-01

    Full Text Available Systemic sclerosis (SSc is an autoimmune systemic disease of unknown etiology. Present treatment modalities have limited impact on clinical/ laboratory outcomes. For the first time in our center, we used plasma exchange (PEx in a rather young woman with recent onset but progressive SSc. She is a 39-year-old woman with a recent history of skin stiffness, Raynaud’s phenomenon, nail fold capillary changes and newly diagnosis of SSc presented to us due to worsening her clinical symptoms even after initiation of routine remedies such as low dose oral prednisolone, Ca-channel blockers, azathioprine and pentoxyfylline. After obtaining written consent, interdisciplinary discussion with experts in this field and agreement we started a series of plasma exchange with FFP replacement for her. A dramatic clinical response was observed in respect to Raynaud’s phenomenon, skin stiffness, tendon rub after three sessions of PEx. Her modified Rodnan skin score (MRSS dropped from 36 (before commencement of therapy to 28 in day 4 and 18 in day 20 after 15 sessions of PEx. In conclusion PEx could significantly modify the course of SSc as observed in our case study. Elimination of culprit immune mediators/cytokines/autoantibodies could be the possible mechanism of action of PEx. 

  16. A toolbox for multiple sclerosis lesion segmentation.

    Science.gov (United States)

    Roura, Eloy; Oliver, Arnau; Cabezas, Mariano; Valverde, Sergi; Pareto, Deborah; Vilanova, Joan C; Ramió-Torrentà, Lluís; Rovira, Àlex; Lladó, Xavier

    2015-10-01

    Lesion segmentation plays an important role in the diagnosis and follow-up of multiple sclerosis (MS). This task is very time-consuming and subject to intra- and inter-rater variability. In this paper, we present a new tool for automated MS lesion segmentation using T1w and fluid-attenuated inversion recovery (FLAIR) images. Our approach is based on two main steps, initial brain tissue segmentation according to the gray matter (GM), white matter (WM), and cerebrospinal fluid (CSF) performed in T1w images, followed by a second step where the lesions are segmented as outliers to the normal apparent GM brain tissue on the FLAIR image. The tool has been validated using data from more than 100 MS patients acquired with different scanners and at different magnetic field strengths. Quantitative evaluation provided a better performance in terms of precision while maintaining similar results on sensitivity and Dice similarity measures compared with those of other approaches. Our tool is implemented as a publicly available SPM8/12 extension that can be used by both the medical and research communities.

  17. Multiple sclerosis as a painful disease.

    Science.gov (United States)

    Kenner, Meghan; Menon, Uma; Elliott, Debra G

    2007-01-01

    Pain is a common problem of patients with multiple sclerosis (MS) and may be due to central/neuropathic or peripheral/somatic pathology. Rarely MS may present with pain, or pain may herald an MS exacerbation, such as in painful tonic spasms or Lhermitte's sign. In other patients, pain may become chronic as a long-term sequela of damage to nerve root entry zones (trigeminal neuralgia) or structures in central sensory pathways. Migraine headache may develop as a consequence of MS, and headache can also be a side effect of interferon treatment. The pathophysiology of pain in MS may be linked to certain plaque locations which disrupt the spinothalamic and quintothalamic pathways, abnormal impulses through motor axons, development of an acquired channelopathy in affected nerves, or involve glial cell inflammatory immune mechanisms. At this time, the treatment of pain in MS employs the use of antiepileptic drugs, muscle relaxers/antispasmodic agents, anti-inflammatory drugs, and nonpharmacological measures. Research concerning cannabis-based treatments shows promising results, and substances which block microglial or astrocytic involvement in pain processing are also under investigation.

  18. Encapsulating peritoneal sclerosis: the state of affairs.

    Science.gov (United States)

    Korte, Mario R; Sampimon, Denise E; Betjes, Michiel G H; Krediet, Raymond T

    2011-08-02

    Encapsulating peritoneal sclerosis (EPS) is a severe complication of long-term peritoneal dialysis (PD) with a 50% mortality rate. EPS is characterized by progressive and excessive fibrotic thickening of the peritoneum, leading to encapsulation of the bowels and intestinal obstruction. At present, EPS cannot be detected with certainty during its early stages; however, a progressive loss of ultrafiltration capacity often precedes its development. Studies that attempted to elucidate the pathogenesis of EPS have shown that the duration of exposure to PD fluids is the most important risk factor for EPS, and that young age and possibly the effects of peritonitis are additional contributory factors. The pathophysiology of EPS is probably best described as a multiple-hit process with a central role for transforming growth factor β. A form of EPS that develops shortly after kidney transplantation has also been recognized as a distinct clinical entity, and may be a common form of EPS in countries with a high transplantation rate. Criteria have been developed to identify EPS by abdominal CT scan at the symptomatic stage, but further clinical research is needed to identify early EPS in asymptomatic patients, to clarify additional risk factors for EPS and to define optimal treatment strategies.

  19. Multiple sclerosis and positive lyme serology

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    Marco Aurélio Lana-Peixoto

    1994-12-01

    Full Text Available As Lyme neuroborreliosis (LNB may clinically mimick multiple sclerosis (MS the presence of antibodies to Borrelia burgdorferi in serum of patients with a MS-like disease in non-edemic areas for Lyme disease may be troublesome. We report the case of a 45-year-old white female with the diagnosis of relapsing/ remitting form of MS due to a 15-year history of optic neuritis and recurrent episodes of motor and sensation disturbance in the upper right limb and in both lower extremites associated with bladder dysfunction. A magnetic resonance imaging of the brain revealed multiple high intensity periventricular white matter lesions. The patient had been exposed to ticks but did not recall the presence of erythema migrans. ELISA for Lyme disease was positive in two different laboratories and the positive serology was confirmed by Western blotting. No convincing reponse followed treatment with ceftriaxone. Although it is clear that the patient had been infect by Borrelia burgdorferi the relationship of this spirochetal infection with the neurological disease could not be ascertained.

  20. Modelling amyotrophic lateral sclerosis: progress and possibilities

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    Philip Van Damme

    2017-05-01

    Full Text Available Amyotrophic lateral sclerosis (ALS is a neurodegenerative disorder that primarily affects the motor system and presents with progressive muscle weakness. Most patients survive for only 2-5 years after disease onset, often due to failure of the respiratory muscles. ALS is a familial disease in ∼10% of patients, with the remaining 90% developing sporadic ALS. Over the past decade, major advances have been made in our understanding of the genetics and neuropathology of ALS. To date, around 20 genes are associated with ALS, with the most common causes of typical ALS associated with mutations in SOD1, TARDBP, FUS and C9orf72. Advances in our understanding of the genetic basis of ALS have led to the creation of different models of this disease. The molecular pathways that have emerged from these systems are more heterogeneous than previously anticipated, ranging from protein aggregation and defects in multiple key cellular processes in neurons, to dysfunction of surrounding non-neuronal cells. Here, we review the different model systems used to study ALS and discuss how they have contributed to our current knowledge of ALS disease mechanisms. A better understanding of emerging disease pathways, the detrimental effects of the various gene mutations and the causes underlying motor neuron denegation in sporadic ALS will accelerate progress in the development of novel treatments.

  1. The symptomatic management of multiple sclerosis

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    Schapiro Randall

    2009-01-01

    Full Text Available The management of multiple sclerosis (MS revolves around disease management, symptom management, and person management. Of these, symptom management takes up the bulk of the time of the practicing physician. Some symptoms are easily managed whereas others are more difficult. Decisions have often to be made on whether to treat or to wait and watch. This article discusses the varied symptoms of MS and the approaches to management, which involves rehabilitation, pharmacological treatments, and surgical procedures. The skilled physician managing MS should be familiar with the multiple approaches to improving the quality of life of those with MS. After the diagnosis has been established and the decisions regarding treatment approaches have been made, the talk in a typical office appointment for MS usually turns to symptom management. Thus, the majority of management decisions made by the clinician revolve around that important topic. It is symptom management that will determine quality of life for those with MS, It is the basis for improving function, and, up until twenty years ago, it was the only basis for treating MS. Now, however, we can approach treatment by disease management, symptom management, and person management. The MS specialist must be well versed in all three areas.

  2. Magnetic resonance tomography in confirmed multiple sclerosis

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    Uhlenbrock, D.; Dickmann, E.; Beyer, H.K.; Gehlen, W.

    1985-03-01

    The authors report on 21 cases of confirmed multiple sclerosis examined by both CT and magnetic resonance tomography. To safeguard the results, strict criteria were applied in accordance with the suggestions made by neurological work teams. Pathological lesions were seen in 20 patients; the MR image did not reveal anything abnormal in one case. On the average, 10.3 lesions were seen in the MR tomogram, whereas CT images showed on the average only 2.1 foci. The size and number of lesions in the MR tomogram were independent of the duration of the disease, the presented clinical symptoms, or the type of treatment at the time of examination. Evidently the sensitivity of MR tomography is very high in MS patients, but it has not yet been clarified to what extent this applies also to the specificity. Further research is mandatory. First experiences made by us show that lesions of a similar kind can also occur in diseases such as malignant lymphoma involving the brain, in vitamin B 12 deficiency syndrome, or encephalitis, and can become manifest in the MR tomogram.

  3. Amyotrophic Lateral Sclerosis: New Perpectives and Update

    Science.gov (United States)

    Orsini, Marco; Oliveira, Acary Bulle; Nascimento, Osvaldo J.M.; Reis, Carlos Henrique Melo; Leite, Marco Antonio Araujo; de Souza, Jano Alves; Pupe, Camila; de Souza, Olivia Gameiro; Bastos, Victor Hugo; de Freitas, Marcos R.G.; Teixeira, Silmar; Bruno, Carlos; Davidovich, Eduardo; Smidt, Benny

    2015-01-01

    Amyotrophic lateral sclerosis (ALS), Charcot’s disease or Lou Gehrig’s disease, is a term used to cover the spetrum of syndromes caracterized by progressive degeneration of motor neurons, a paralytic disorder caused by motor neuron degeneration. Currently, there are approximately 25,000 patients with ALS in the USA, with an average age of onset of 55 years. The incidence and prevalence of ALS are 1-2 and 4-6 per 100,000 each year, respectively, with a lifetime ALS risk of 1/600 to 1/1000. It causes progressive and cumulative physical disabilities, and leads to eventual death due to respiratory muscle failure. ALS is diverse in its presentation, course, and progression. We do not yet fully understand the causes of the disease, nor the mechanisms for its progression; thus, we lack effective means for treating this disease. In this chapter, we will discuss the diagnosis, treatment, and how to cope with impaired function and end of life based on of our experience, guidelines, and clinical trials. Nowadays ALS seems to be a more complex disease than it did two decades – or even one decade – ago, but new insights have been plentiful. Clinical trials should be seen more as experiments on pathogenic mechanisms. A medication or combination of medications that targets more than one pathogenic pathway may slow disease progression in an additive or synergistic fashion. PMID:26487927

  4. Cognitive dysfunction in pediatric multiple sclerosis

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    Suppiej A

    2014-07-01

    Full Text Available Agnese Suppiej,1 Elisa Cainelli1,2 1Child Neurology and Clinical Neurophysiology, Pediatric University Hospital, Padua, Italy; 2Lifespan Cognitive Neuroscience Laboratory (LCNL, Department of General Psychology, University of Padua, Italy Abstract: Cognitive and neuropsychological impairments are well documented in adult ­multiple sclerosis (MS. Research has only recently focused on cognitive disabilities in pediatric cases, highlighting some differences between pediatric and adult cases. Impairments in several functions have been reported in children, particularly in relation to attention, processing speed, visual–motor skills, and language. Language seems to be particularly vulnerable in pediatric MS, unlike in adults in whom it is usually preserved. Deficits in executive functions, which are considered MS-specific in adults, have been inconsistently reported in children. In children, as compared to adults, the relationship between cognitive dysfunctions and the two other main symptoms of MS, fatigue and psychiatric disorders, was poorly explored. Furthermore, data on the correlations of cognitive impairments with clinical and neuroimaging features are scarce in children, and the results are often incongruent; interestingly, involvement of corpus callosum and reduced thalamic volume differentiated patients identified as having a cognitive impairment from those without a cognitive impairment. Further studies about pediatric MS are needed in order to better understand the impact of the disease on brain development and the resulting effect on cognitive functions, particularly with respect to different therapeutic strategies. Keywords: central nervous system, child, deficit, IQ, inflammatory demyelination, neuropsychological

  5. B Cells and Autoantibodies in Multiple Sclerosis

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    Anne-Katrin Pröbstel

    2015-07-01

    Full Text Available While over the past decades T cells have been considered key players in the pathogenesis of multiple sclerosis (MS, it has only recently become evident that B cells have a major contributing role. Our understanding of the role of B cells has evolved substantially following the clinical success of B cell-targeting therapies and increasing experimental evidence for significant B cell involvement. Rather than mere antibody-producing cells, it is becoming clear that they are team players with the capacity to prime and regulate T cells, and function both as pro- and anti-inflammatory mediators. However, despite tremendous efforts, the target antigen(s of B cells in MS have yet to be identified. The first part of this review summarizes the clinical evidence and results from animal studies pointing to the relevance of B cells in the pathogenesis of MS. The second part gives an overview of the currently known potential autoantigen targets. The third part recapitulates and critically appraises the currently available B cell-directed therapies.

  6. Pediatric multiple sclerosis: Cognition and mood.

    Science.gov (United States)

    Amato, Maria Pia; Krupp, Lauren B; Charvet, Leigh E; Penner, Iris; Till, Christine

    2016-08-30

    In comparison with the large body of evidence on cognitive functioning in adults with multiple sclerosis (MS), there is limited information on cognition in pediatric-onset MS (POMS). Unique vulnerabilities in POMS can derive from having a disease that occurs during key periods of age-expected brain growth, active myelination in the CNS, and maturation of neural networks during the learning curve and key formative years in the academic career of the patient. Therefore, the consequences of MS on developing cognitive faculties can be assessed only in the pediatric population and cannot be simply extrapolated from studies carried on in the adult population. Until the last decade, research in the pediatric population was mainly represented by small clinical series, often limited by the narrow scope of neuropsychological assessment and lack of adequate control groups. Over the last decade, however, cognitive functioning and mood-related difficulties have become an increasing concern as awareness of this population has grown. A few specialized MS centers have begun performing more systematic research in the field in order to assess the prevalence of cognitive impairments and mood-related difficulties in patients with POMS, to better characterize the neuropsychological pattern and determine the functional consequences of these problems. This chapter summarizes our current understanding of cognitive and mood-related difficulties in POMS and highlights perceived gaps in knowledge and priorities for future research. © 2016 American Academy of Neurology.

  7. Shift work influences multiple sclerosis risk.

    Science.gov (United States)

    Hedström, A K; Åkerstedt, T; Olsson, T; Alfredsson, L

    2015-08-01

    An association between working shift at a young age and subsequent risk for multiple sclerosis (MS) has been observed. To investigate whether this finding could be replicated, and to further explore the influence of age at first exposure to shift work. Using a Swedish population-based, case-control study (2337 cases and 4904 controls), the incidence of MS among subjects whom had worked shifts was compared with that of those whom had not, by calculating odds ratios (ORs) with 95% confidence intervals (CIs) by means of logistic regression. The OR of developing MS was 1.5 (95% CI 1.2-1.8) among those whom started working shifts before age 20, whereas a less pronounced association was observed among those whom started working shifts at age 20 or later (OR 1.2; 95% CI 1.1-1.4). The effect of shift work was more pronounced among subjects whom had been exposed at a young age, regardless of the duration between the start of shift work and disease onset. Some aspects of adolescence seem to be of great importance, regarding the impact of shift work on MS risk. Circadian disruption and sleep deprivation may contribute towards explaining the association; however, the exact mechanisms behind our observations remain to be elucidated. © The Author(s), 2015.

  8. [Pegylation and interferons in multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Diego Centonze

    2016-07-01

    Full Text Available Pegylation is a procedure used for drug development since the 1970s and consists of the conjugation of a polyethylene glycol molecule (PEG to a drug. PEG has shown to be safe and effective in improving the pharmacokinetic and pharmacodynamic profile of drugs. Recently, a 20 kDa linear chain of PEG was conjugated to interferon beta-1a with the aim to offer a new treatment option to relapsing-remitting multiple sclerosis (RRMS patients. Due to a prolonged bioavailability, this new drug can be administered less frequently (every two weeks than the other interferons beta available, thus allowing to hypothesize a better adherence to the treatment, which, in turn, should result in better clinical and economic outcomes. A phase III clinical trial has proven its effectiveness compared to placebo in RRMS patients, as well as a safety profile comparable to that found in other interferon beta preparations. The immunogenicity of this new molecule is < 1%, thus minimizing the suppression or reduction of interferon beta biological activity that could come from the development of Neutralizing Antibodies (NAbs. [Article in Italian

  9. Effects of Sport Climbing on Multiple Sclerosis.

    Science.gov (United States)

    Steimer, Julia; Weissert, Robert

    2017-01-01

    Multiple sclerosis (MS) is an autoimmune and neurodegenerative disease of the central nervous system (CNS) with different types of disease courses (relapsing-remitting, secondary-progressive, primary progressive) that leads to physical as well as mental disability. The symptoms comprise paresis or/and paralysis, ataxia, bladder dysfunction, visual problems as well as effects on cognition. There is limited data regarding the possible effects of sport climbing respectively therapeutic climbing on patients with MS. Sport climbing offers many potentially beneficial effects for patients with MS since there are effects on coordination, muscular strength, and cognition to name the most relevant ones. Also, disease models in rodents point toward such positive outcomes of climbing. Therefore, we assessed the currently available research literature on general effects of physical exercise, impact of climbing on body and mind and therapeutic climbing for prevention or therapy for the treatment of MS. The sparse published controlled trials that investigated this sport activity on different groups of patients with neurological or geriatric diseases grossly differ in study design and outcome parameters. Nevertheless, it appears that climbing offers the opportunity to improve some of the symptoms of patients with MS and can contribute to an enhanced quality of life.

  10. Systemic sclerosis, birth order and parity.

    Science.gov (United States)

    Russo, Paul A J; Lester, Susan; Roberts-Thomson, Peter J

    2014-06-01

    A recent study identified increasing birth order to be a risk factor for the development of systemic sclerosis (SSc). This finding supports the theory that transplacental microchimerism may be a key pathological event in the initiation of SSc. We investigated the relationship between birth order and parity and the age of onset of SSc in South Australia. A retrospective analysis of patient data in the South Australian Scleroderma Register was performed. Data were obtained from a mailed questionnaire. Control data was collected prospectively using a similar questionnaire. The relationship between birth order, family size or parity and risk of subsequent development of SSc was analyzed by mixed effects logistic regression analysis. Three hundred and eighty-seven index probands were identified and compared with 457 controls. Controls were well matched for gender, but not for age. No statistically significant relationship was identified between SSc and birth order, parity in females, family size, age at first pregnancy in females or gender of first child in parous females. Our data suggests that parity, age at first pregnancy and the gender of the first child are not relevant factors in our understanding of the epidemiology and pathogenesis of SSc. Birth order and family size in both genders also appears irrelevant. These results argue against microchimerism as being relevant in the pathogenesis of SSc and add further support to the theory that stochastic events may be important in the etiopathogenesis of SSc. © 2013 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

  11. Systemic sclerosis: patients' perceptions of their condition.

    Science.gov (United States)

    Richards, Helen L; Herrick, Ariane L; Griffin, Kerry; Gwilliam, Petra D H; Loukes, Jonathan; Fortune, Dónal G

    2003-10-15

    To examine patients' beliefs about systemic sclerosis (SSc) and to investigate the relationship between these beliefs, symptom report, and clinical and demographic variables. A total of 49 patients (7 male, 42 female) with SSc underwent clinical examination and completed the Revised Illness Perception Questionnaire. This measure assesses beliefs about symptoms, chronicity or recurrence of the condition, consequences, personal and treatment control, illness coherence, perceived causes of the condition, and patients' emotional response to their condition. The symptoms patients most frequently associated with their SSc were stiff joints (79%), pain (75%), and fatigue (75%). The most commonly reported causes of SSc were stress (53%), altered immunity (49%), and chance or bad luck (46%). More than 96% of patients believed that their condition would be chronic and 78% believed that the condition had serious consequences on their lives. Patients with diffuse cutaneous SSc reported more significant consequences of the condition and less personal control of their SSc compared with patients with limited cutaneous disease. There were no significant differences in illness beliefs between patients with nonsevere and severe ischemia. Multiple regression analyses indicated that illness beliefs, in particular perceived consequences associated with the condition, accounted for a significant proportion of the variance in emotional response to the condition. The beliefs held and symptoms experienced by patients with SSc are not ruled by disease subtype, skin score, functional ability, or severity of digital ischemia. This suggests patients' beliefs and emotional response are associated with the meaning they ascribe to their condition rather than its severity.

  12. Bone Health in Patients with Multiple Sclerosis

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    Vit Zikan

    2011-01-01

    Full Text Available Multiple sclerosis (MS is a gait disorder characterized by acute episodes of neurological defects leading to progressive disability. Patients with MS have multiple risk factors for osteoporotic fractures, such as progressive immobilization, long-term glucocorticoids (GCs treatment or vitamin D deficiency. The duration of motor disability appears to be a major contributor to the reduction of bone strength. The long term immobilization causes a marked imbalance between bone formation and resorption with depressed bone formation and a marked disruption of mechanosensory network of tightly connected osteocytes due to increase of osteocyte apoptosis. Patients with higher level of disability have also higher risk of falls that combined with a bone loss increases the frequency of bone fractures. There are currently no recommendations how to best prevent and treat osteoporosis in patients with MS. However, devastating effect of immobilization on the skeleton in patients with MS underscores the importance of adequate mechanical stimuli for maintaining the bone structure and its mechanical competence. The physical as well as pharmacological interventions which can counteract the bone remodeling imbalance, particularly osteocyte apoptosis, will be promising for prevention and treatment of osteoporosis in patients with MS.

  13. Multiple Sclerosis and Pregnancy: Current Considerations

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    Ioan Buraga

    2014-01-01

    Full Text Available Multiple sclerosis is the most common neurological disease of young adults that causes major disability. In Romania, it is estimated that this disease has a prevalence of 35–40 per 100,000 inhabitants. It is a disease that begins at the age of 20–40 years and is 2-3 times more common in women than in men. More than half of patients with MS develop the disease in their fertile period of life; therefore, MS patients use contraceptive methods while being under our treatment. Since several therapeutic options have been implemented with good efficiency in the disease stabilization, increasingly more patients begin to wonder about the possibility of having a child and about the possible risks of pregnancy. The evolution during pregnancy and the lactation period has been favorable, with lower relapses and side effects comparable to those in the general population. In addition, babies born to mothers with MS have not had a significantly different mean gestational age or birth weight compared to babies born to healthy mothers.

  14. Fatigue in systemic sclerosis: a systematic review.

    Science.gov (United States)

    Basta, Fabio; Afeltra, Antonella; Margiotta, Domenico Paolo Emanuele

    2017-12-15

    To systematically review fatigue in systemic sclerosis (SSc) in terms of prevalence, features, correlates, predictors and management. We performed a literature search in PubMed (Medline), EBSCO and COCHRANE databases up to June 2017 selecting articles regarding fatigue in SSc. The articles finally selected fulfilled the following eligibility criteria: written in English, referred to fatigue in SSc, reporting original data, including validated questionnaires measuring fatigue. A total of 43 records were included. Fatigue in SSc has a prevalence similar to that of other rheumatic diseases and is one of the most prevalent and debilitating symptom experienced by SSc patients. Fatigue leads to a significant impairment of quality of life, parenting, household and work ability. Fatigue is associated with psychosocial factors (depression, pain and sleep disorders), sociodemographic factors and clinical manifestations of the disease (pulmonary and gastrointestinal involvement). Indeed, the relationship with scores of disease activity is uncertain. Pharmacological therapeutic approaches were broadly ineffective in reducing fatigue. More encouraging results concern physical activity, complementary and alternative medicine. Adequate management of fatigue could lead to a marked improvement of the patient's quality of life, also contributing to reduction in SSc indirect costs.

  15. Redox Regulation in Amyotrophic Lateral Sclerosis

    Science.gov (United States)

    Parakh, Sonam; Spencer, Damian M.; Halloran, Mark A.; Soo, Kai Y.; Atkin, Julie D.

    2013-01-01

    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that results from the death of upper and lower motor neurons. Due to a lack of effective treatment, it is imperative to understand the underlying mechanisms and processes involved in disease progression. Regulations in cellular reduction/oxidation (redox) processes are being increasingly implicated in disease. Here we discuss the possible involvement of redox dysregulation in the pathophysiology of ALS, either as a cause of cellular abnormalities or a consequence. We focus on its possible role in oxidative stress, protein misfolding, glutamate excitotoxicity, lipid peroxidation and cholesterol esterification, mitochondrial dysfunction, impaired axonal transport and neurofilament aggregation, autophagic stress, and endoplasmic reticulum (ER) stress. We also speculate that an ER chaperone protein disulphide isomerase (PDI) could play a key role in this dysregulation. PDI is essential for normal protein folding by oxidation and reduction of disulphide bonds, and hence any disruption to this process may have consequences for motor neurons. Addressing the mechanism underlying redox regulation and dysregulation may therefore help to unravel the molecular mechanism involved in ALS. PMID:23533690

  16. Risk factors for amyotrophic lateral sclerosis

    Science.gov (United States)

    Ingre, Caroline; Roos, Per M; Piehl, Fredrik; Kamel, Freya; Fang, Fang

    2015-01-01

    Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease. It is typically fatal within 2–5 years of symptom onset. The incidence of ALS is largely uniform across most parts of the world, but an increasing ALS incidence during the last decades has been suggested. Although recent genetic studies have substantially improved our understanding of the causes of ALS, especially familial ALS, an important role of non-genetic factors in ALS is recognized and needs further study. In this review, we briefly discuss several major genetic contributors to ALS identified to date, followed by a more focused discussion on the most commonly examined non-genetic risk factors for ALS. We first review factors related to lifestyle choices, including smoking, intake of antioxidants, physical fitness, body mass index, and physical exercise, followed by factors related to occupational and environmental exposures, including electromagnetic fields, metals, pesticides, β-methylamino-L-alanine, and viral infection. Potential links between ALS and other medical conditions, including head trauma, metabolic diseases, cancer, and inflammatory diseases, are also discussed. Finally, we outline several future directions aiming to more efficiently examine the role of non-genetic risk factors in ALS. PMID:25709501

  17. Controversies and priorities in amyotrophic lateral sclerosis

    Science.gov (United States)

    Turner, Martin R; Hardiman, Orla; Benatar, Michael; Brooks, Benjamin R; Chio, Adriano; de Carvalho, Mamede; Ince, Paul G; Lin, Cindy; Miller, Robert G; Mitsumoto, Hiroshi; Nicholson, Garth; Ravits, John; Shaw, Pamela J; Swash, Michael; Talbot, Kevin; Traynor, Bryan J; den Berg, Leonard H Van; Veldink, Jan H; Vucic, Steve; Kiernan, Matthew C

    2015-01-01

    Summary Two decades after the discovery that 20% of familial amyotrophic lateral sclerosis (ALS) cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial proportion of the remainder of cases of familial ALS have now been traced to an expansion of the intronic hexanucleotide repeat sequence in C9orf72. This breakthrough provides an opportunity to re-evaluate longstanding concepts regarding the cause and natural history of ALS, coming soon after the pathological unification of ALS with frontotemporal dementia through a shared pathological signature of cytoplasmic inclusions of the ubiquitinated protein TDP-43. However, with profound clinical, prognostic, neuropathological, and now genetic heterogeneity, the concept of ALS as one disease appears increasingly untenable. This background calls for the development of a more sophisticated taxonomy, and an appreciation of ALS as the breakdown of a wider network rather than a discrete vulnerable population of specialised motor neurons. Identification of C9orf72 repeat expansions in patients without a family history of ALS challenges the traditional division between familial and sporadic disease. By contrast, the 90% of apparently sporadic cases and incomplete penetrance of several genes linked to familial cases suggest that at least some forms of ALS arise from the interplay of multiple genes, poorly understood developmental, environmental, and age-related factors, as well as stochastic events. PMID:23415570

  18. Early saccades in amyotrophic lateral sclerosis.

    Science.gov (United States)

    Burrell, James R; Carpenter, Roger H S; Hodges, John R; Kiernan, Matthew C

    2013-05-01

    Our objective was to correlate saccadic abnormalities, including early saccades, in patients with amyotrophic lateral sclerosis (ALS) with measures of motor and functional impairment. A portable saccadometer was used to record saccades in ALS patients and control subjects. The linear approach to threshold with ergodic rate model was used to characterize saccades, including sub-populations of early saccades. Patients with established cognitive impairment or frontotemporal dementia were excluded. Limb-onset (Limb ALS) and bulbar-onset (Bulbar ALS) patient groups were compared and saccadic abnormalities were correlated with measures of motor and functional impairment. In total, 48 participants were included in the study; 24 patients with ALS (15 males, 9 females; mean age 57.0 +/- 13.9 years; mean symptom duration 22.4 +/- 16.3 months, of whom 62.5% had Limb ALS) and 24 age-matched controls. Early saccades were increased in both Limb ALS and Bulbar ALS patients, but other saccadic parameters were normal in ALS. Saccadic abnormalities did not correlate with motor or functional impairment. In conclusion, ALS patients show increased early saccades, but exhibit no significant differences across ALS phenotypes.

  19. Attributional Style and Depression in Multiple Sclerosis

    Science.gov (United States)

    Arnett, Peter A.

    2013-01-01

    Several etiologic theories have been proposed to explain depression in the general population. Studying these models and modifying them for use in the multiple sclerosis (MS) population may allow us to better understand depression in MS. According to the reformulated learned helplessness (LH) theory, individuals who attribute negative events to internal, stable, and global causes are more vulnerable to depression. This study differentiated attributional style that was or was not related to MS in 52 patients with MS to test the LH theory in this population and to determine possible differences between illness-related and non-illness-related attributions. Patients were administered measures of attributional style, daily stressors, disability, and depressive symptoms. Participants were more likely to list non-MS-related than MS-related causes of negative events on the Attributional Style Questionnaire (ASQ), and more-disabled participants listed significantly more MS-related causes than did less-disabled individuals. Non-MS-related attributional style correlated with stress and depressive symptoms, but MS-related attributional style did not correlate with disability or depressive symptoms. Stress mediated the effect of non-MS-related attributional style on depressive symptoms. These results suggest that, although attributional style appears to be an important construct in MS, it does not seem to be related directly to depressive symptoms; rather, it is related to more perceived stress, which in turn is related to increased depressive symptoms. PMID:24453767

  20. Symptom overlap in anxiety and multiple sclerosis.

    LENUS (Irish Health Repository)

    O Donnchadha, Seán

    2013-02-14

    BACKGROUND: The validity of self-rated anxiety inventories in people with multiple sclerosis (pwMS) is unclear. However, the appropriateness of self-reported depression scales has been widely examined. Given somatic symptom overlap between depression and MS, research emphasises caution when using such scales. OBJECTIVE: This study evaluates symptom overlap between anxiety and MS in a group of 33 individuals with MS, using the Beck Anxiety Inventory (BAI). METHODS: Participants underwent a neurological examination and completed the BAI. RESULTS: A novel procedure using hierarchical cluster analysis revealed three distinct symptom clusters. Cluster one (\\'wobbliness\\' and \\'unsteady\\') grouped separately from all other BAI items. These symptoms are well-recognised MS-related symptoms and we question whether their endorsement in pwMS can be considered to reflect anxiety. A modified 19-item BAI (mBAI) was created which excludes cluster one items. This removal reduced the number of MS participants considered \\'anxious\\' by 21.21% (low threshold) and altered the level of anxiety severity for a further 27.27%. CONCLUSION: Based on these data, it is suggested that, as with depression measures, researchers and clinicians should exercise caution when using brief screening measures for anxiety in pwMS.

  1. Activation of Necroptosis in Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Dimitry Ofengeim

    2015-03-01

    Full Text Available Multiple sclerosis (MS, a common neurodegenerative disease of the CNS, is characterized by the loss of oligodendrocytes and demyelination. Tumor necrosis factor α (TNF-α, a proinflammatory cytokine implicated in MS, can activate necroptosis, a necrotic cell death pathway regulated by RIPK1 and RIPK3 under caspase-8-deficient conditions. Here, we demonstrate defective caspase-8 activation, as well as activation of RIPK1, RIPK3, and MLKL, the hallmark mediators of necroptosis, in the cortical lesions of human MS pathological samples. Furthermore, we show that MS pathological samples are characterized by an increased insoluble proteome in common with other neurodegenerative diseases such as Alzheimer’s disease (AD, Parkinson’s disease (PD, and Huntington’s disease (HD. Finally, we show that necroptosis mediates oligodendrocyte degeneration induced by TNF-α and that inhibition of RIPK1 protects against oligodendrocyte cell death in two animal models of MS and in culture. Our findings demonstrate that necroptosis is involved in MS and suggest that targeting RIPK1 may represent a therapeutic strategy for MS.

  2. Depression and immunity: Inflammation and depressive symptoms in multiple sclerosis

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    Gold, Stefan M.; Irwin, Michael R.

    2013-01-01

    An increasing body of evidence suggests that patients with major depressive disorder show alterations in immunological markers including increases in proinflammatory cytokine activity and inflammation. Animal models of a depression-like syndrome called sickness behavior have clearly shown that cytokines are implicated in the development of these symptoms. Inflammation of the CNS is a pathological hallmark of multiple sclerosis (MS). Patients affected by this disease also show a high incidence of depression. In light of accumulating evidence for cytokine-mediated sickness behavior from animal studies, it is possible that some aspects of depression and fatigue in multiple sclerosis may be linked to inflammatory markers. Here, we review the current knowledge in the field and illustrate how the sickness behavior model may be applied to investigate depressive symptoms in inflammatory neurological diseases such as multiple sclerosis. PMID:19389584

  3. Role of oral teriflunomide in the management of multiple sclerosis.

    Science.gov (United States)

    Tanasescu, Radu; Evangelou, Nikos; Constantinescu, Cris S

    2013-01-01

    The landscape of the treatment of relapsing-remitting multiple sclerosis is changing fast. Several oral treatments have shown benefit and generate much interest because of the convenience of their administration. Two oral compounds, fingolimod and teriflunomide, have been approved in relapsing-remitting multiple sclerosis, while others have completed Phase III trials and are awaiting review for registration. Teriflunomide is a pyrimidine synthesis inhibitor with selective immunomodulatory and immunosuppressive properties that have shown consistent efficacy in clinical trials, and a good safety profile. This paper provides an overview of the mechanisms of action and efficacy and safety results from clinical trials with this drug. The role of teriflunomide in the treatment of relapsing-remitting multiple sclerosis is discussed.

  4. Humoral and cellular immunity in progressive systemic sclerosis.

    Science.gov (United States)

    Sierakowski, S; Bernacka, K

    1987-01-01

    There is ever increasing evidence that immune disturbances can play an essential role in the pathogenesis of progressive systemic sclerosis. However, there are still a great many controversial opinions and complex studies in this domain are few. Tests of lymphocyte blastic transformation and of leukocyte migration inhibition as well as E and EAC rosette tests were performed and the serum level of A, G and M immunoglobulins and complement were estimated in 13 patients with progressive systemic sclerosis. The increase of serum IgA, IgG and IgM and the decrease of early and delayed E rosette formation was observed in the patients as compared with the control group. The patients also presented increase spontaneous and PHA induced lymphocyte blastic transformation. The results support the hypothesis of the role played by immune disturbances in the pathogenesis of progressive systemic sclerosis.

  5. Echocardiographic Screening Results in Patients with Tuberous Sclerosis Complex

    Science.gov (United States)

    Adriaensen, Miraude E.A.P.M.; Cramer, Maarten J.M.; Brouha, Madelon E.E.; Schaefer-Prokop, Cornelia M.; Prokop, Mathias; Doevendans, Pieter A.F.M.; Zonnenberg, Bernard A.; Feringa, Harm H.H.

    2010-01-01

    We sought to examine the frequency of abnormal echocardiographic findings in patients with tuberous sclerosis complex. In a retrospective cohort study, we included all patients with known tuberous sclerosis complex who had been sent to our cardiology department for echocardiographic screening from 1995 through August 2003 (n=56). Two research scientists independently reviewed the reports of the echocardiographic screening examinations for abnormal findings. We used descriptive statistics, the Mann-Whitney U test, and the χ2 test. The mean age of patients included in the study was 35 years (range, 12–73 yr); 23 patients were male. Abnormal findings were seen in 22 patients (39%). The most common abnormal findings were focal areas of increased intramyocardial echogenicity, which were seen in 16 patients (29%). The clinical consequence of this finding is still unknown. We conclude that echocardiographic abnormalities are common in patients with tuberous sclerosis complex. PMID:20548802

  6. Falls and Physical Activity in Persons with Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    J. J. Sosnoff

    2012-01-01

    Full Text Available Objectives. To examine the association between fall history and physical activity using an objective measure of physical activity (i.e., accelerometry in persons with multiple sclerosis. Design. A community-based sample of 75 ambulatory persons with multiple sclerosis volunteered for the investigation. Participants self-reported fall history in the last year, underwent a neurological exam to determine Expanded Disability Status Scale (EDSS score, and wore an accelerometer around the waist for 7 consecutive days to determine physical activity. Results. Overall, 37 persons (49.3% of the sample reported falling in the last year with 28 of the 37 falling more than once. Persons who fell in the last year had a significantly lower number of steps/day than nonfallers (3510 versus 4940 steps/day; P.05. Conclusions. Collectively, the findings suggest that fall history may have little impact on current physical activity levels in persons with multiple sclerosis.

  7. Prevalence of multiple sclerosis in Denmark 1950-2005

    DEFF Research Database (Denmark)

    Bentzen, Joan; Meulengracht Flachs, Esben; Stenager, Egon

    2010-01-01

    Multiple sclerosis is an inflammatory disease of the central nervous system of unknown aetiology. Its prevalence varies by ethnicity and place: persons of northern European descent are at increased risk while persons living at lower latitudes appear to be protected against the disease. The Danish...... Multiple Sclerosis Registry is a national registry established in 1956 after a population-based survey which receives information from numerous sources. It is considered to be more than 90% complete, with a validity of 94%. Using data from the Registry, we calculated prevalences per 100,000 inhabitants....... The standardized prevalence of multiple sclerosis increased from 58.8 (95% confidence interval: 54.9-62.7) in 1950 to 154.5 per 100,000 (95% confidence interval: 148.8-160.2) in 2005, and the female to male ratio increased from 1.31 in 1950 to 2.02 in 2005. The increase in prevalence is due to both increased...

  8. Sexual dysfunction in multiple sclerosis: II. Correlation analysis.

    Science.gov (United States)

    Zivadinov, R; Zorzon, M; Bosco, A; Bragadin, L M; Moretti, R; Bonfigli, L; Iona, L G; Cazzato, G

    1999-12-01

    Sexual dysfunction affects a large part of patients suffering from multiple sclerosis, but some aspects of its clinical presentation and aetiology are not clearly defined yet. In an unselected sample of 108 patients with definite multiple sclerosis we investigated the relationship between symptoms of sexual dysfunctioning and sphincteric dysfunction, patients' and disease characteristics, disability and neurological impairment, psychological and cognitive functioning. Sexual dysfunction directly correlated with presence of physical disorders (r=0.37, P=0.0004), low educational level (r=0.32, Pcognitive deterioration (r=0.26, Pmasturbation, and fertility. In conclusion, the association between sexual dysfunction and sphincteric dysfunction indicates a common aetiology corresponding to the frequent involvement of the spinal cord in multiple sclerosis, but the concomitant correlation between sexual dysfunction and other variables suggests the possible aetiological role of physical, psychological and sociological factors as well.

  9. Quality of life of patients with Amyotrophic Lateral Sclerosis

    Directory of Open Access Journals (Sweden)

    Sue Christine Siqueira

    2017-01-01

    Full Text Available Objective: to analyze the scientific evidence that evaluated the quality of life of patients with Amyotrophic Lateral Sclerosis through ALSAQ-40/ALSAQ-5. Methods: this is an integrative review carried out with eight articles in the database, using controlled keywords. Results: the most impaired domains of quality of life were physical mobility and activities of daily living. Patients with bulbar Amyotrophic Lateral Sclerosis, communication and feeding were more impaired. Problems with health care and lack of social support to the caregiver negatively impacted the patient´s quality of life. Emotional stress was correlated with communication, physical mobility and disease progression in patients with breathing and artificial feeding, but it is not directly related to the advances of physical deterioration, but rather how the patient processes the experiences. Conclusion: patients with Amyotrophic Lateral Sclerosis have a poorer quality of life regarding the motor aspect, and lack of caregiver support worsens the patient´s quality of life.

  10. Analysis of the pharyngoesophageal pressure profile in amyotrophic lateral sclerosis.

    Science.gov (United States)

    MacDougall, G; Wilson, J A; Pryde, A; Grant, R

    1995-02-01

    Treatment of dysphagia resulting from bulbar amyotrophic lateral sclerosis has included cricopharyngeal myotomy for many years but is successful in only a minority of cases. The purpose of this study was to explore the rationale for this procedure with modern manometric techniques. The results of pharyngoesophageal manometry in 13 patients with amyotrophic lateral sclerosis were compared with 13 age- and sex-matched healthy volunteers by Mann-Whitney analysis. There was no significant difference between patients and control subjects in distal esophageal or lower esophageal sphincter motility nor any pressure parameter of pharyngoesophageal motility. Separate analysis of the seven significantly dysphagic subjects showed a significantly reduced upper esophageal sphincter after-contraction amplitude during water and bread swallows in patients than in control subjects. These data suggest that the dysphagia of amyotrophic lateral sclerosis is not due to upper esophageal sphincter spasm and that treatment by cricopharyngeal myotomy may be inappropriate.

  11. Infectious mononucleosis and multiple sclerosis - Updated review on associated risk.

    Science.gov (United States)

    Sheik-Ali, Sharaf

    2017-05-01

    There has been substantial evidence accumulating on the role of infectious mononucleosis (IM) and the subsequent risk of obtaining Multiple Sclerosis (MS). Up to date studies not previously explored were reviewed by the author to further clarify the association. Medline and Web of Science were searched with no time constraints for articles exploring an association between Multiple Sclerosis and Infectious Mononucleosis. 24 articles were found, totalling 1063 cases and 13,227 cohort/controls. 23/24 (96%) articles reported a significant association of Infectious Mononucleosis on the risk of subsequent multiple sclerosis. Overall, new literature on IM and risk of MS categorically supports the association. Future work should focus on other risk factors such as age and gender on IM and subsequent risk of MS. Crown Copyright © 2017. Published by Elsevier B.V. All rights reserved.

  12. Remyelination strategies in multiple sclerosis: a critical reflection.

    Science.gov (United States)

    Kipp, Markus

    2016-01-01

    Remyelination is the natural repair mechanism of demyelination and can be a highly efficient process in multiple sclerosis. However, in the majority of lesions, this regenerative approach is incomplete or fails. It is believed that remyelination protects against progressive axonal damage and thus long-term disability in patients with multiple sclerosis. For this reason, therapeutic promotion of remyelination represents an attractive option for preventing disease progression. In this editorial we casts a critical eye over the most frequently used experimental settings which aim to uncover potential remyelination promoting drugs. This article reflects upon the personal opinion of the author who currently used animal models allow to assess the potency of pharmacological interventions to accelerate, but not to induce myelin repair. Furthermore, it is discussed how remyelination and neuroprotection might well be two separate entities. Thus, induction of remyelination does not necessarily prevent disease progression in multiple sclerosis patients.

  13. Polycystic kidney disease and chronic renal failure in tuberous sclerosis.

    Science.gov (United States)

    Dhakal, Mona; Dhakal, O P; Bhandari, Dhurba

    2013-10-02

    Tuberous sclerosis is a rare genetic disease which leads to formation of benign tumours in the brain and other organs of the body. It is a multisystem disease with various clinical manifestations. Renal angiomyolipomas are the most common renal manifestations whereas renal cell carcinoma is the least. Renal cysts are found in around 20% of the patients but polycystic kidney disease is present in less than 2% cases and is relatively rare manifestation of the disease. We present a case of tuberous sclerosis in a 60-year-old man who presented to the medicine outpatient department for routine evaluation of his hypertension. He was diagnosed as tuberous sclerosis. His ultrasound and CT scan of abdomen revealed polycystic kidney disease. His kidney function test and urine analysis were suggestive of chronic kidney disease.

  14. Brain atrophy in clinically early relapsing-remitting multiple sclerosis.

    Science.gov (United States)

    Chard, D T; Griffin, C M; Parker, G J M; Kapoor, R; Thompson, A J; Miller, D H

    2002-02-01

    Brain atrophy measured by MRI is a potentially useful tool for monitoring disease progression in multiple sclerosis. The location, extent and mechanisms of brain atrophy in early disease are not well documented. Using quantitative MRI, this study investigated whole brain, grey and white matter atrophy in clinically early relapsing-remitting multiple sclerosis and its relationship to lesion measures. Data came from 27 normal control subjects (14 females and 13 males, mean age 36.1 years) and 26 subjects with clinically definite multiple sclerosis (18 females and eight males, mean age 35.1 years, mean delay from first symptom to scan 1.8 years, median Expanded Disability Status Scale score 1.0). All had three-dimensional fast spoiled gradient recall (3D FSPGR), T(1)-weighted pre- and post-gadolinium-enhanced and T(2)-weighted scans. The 3D FSPGR images were automatically segmented into grey and white matter and cerebrospinal fluid using SPM99. 3D FSPGR hypo-intense, T(2) hyper-intense, T(1) hypo-intense and T(1) post-gadolinium-enhancing lesion volumes were determined by semi-automatic lesion segmentation. The SPM99 output was combined with the 3D FSPGR lesion segmentations to quantify tissue volumes as fractions of total intracranial volumes, producing values for the brain parenchymal fraction (BPF), white matter fraction (WMF) and grey matter fraction (GMF). Comparing multiple sclerosis with control subjects, BPF, GMF and WMF were significantly reduced (P lesion volumes were inversely related to BPF (T(2) r = -0.78, P lesion volumes were not correlated with any fractional volumes. These results indicate that significant brain atrophy, affecting both grey and white matter, occurs early in the clinical course of multiple sclerosis. The lack of correlation between lesion load measures and WMF suggests that pathological changes in white matter may occur by mechanisms which are at least partly independent from overt lesion genesis in early multiple sclerosis.

  15. Mitochondrial dysfunction in blood cells from amyotrophic lateral sclerosis patients.

    Science.gov (United States)

    Ehinger, Johannes K; Morota, Saori; Hansson, Magnus J; Paul, Gesine; Elmér, Eskil

    2015-06-01

    Mitochondrial dysfunction is implicated in amyotrophic lateral sclerosis, where the progressive degeneration of motor neurons results in muscle atrophy, paralysis and death. Abnormalities in both central nervous system and muscle mitochondria have previously been demonstrated in patient samples, indicating systemic disease. In this case-control study, venous blood samples were acquired from 24 amyotrophic lateral sclerosis patients and 21 age-matched controls. Platelets and peripheral blood mononuclear cells were isolated and mitochondrial oxygen consumption measured in intact and permeabilized cells with additions of mitochondrial substrates, inhibitors and titration of an uncoupler. Respiratory values were normalized to cell count and for two markers of cellular mitochondrial content, citrate synthase activity and mitochondrial DNA, respectively. Mitochondrial function was correlated with clinical staging of disease severity. Complex IV (cytochrome c-oxidase)-activity normalized to mitochondrial content was decreased in platelets from amyotrophic lateral sclerosis patients both when normalized to citrate synthase activity and mitochondrial DNA copy number. In mononuclear cells, complex IV-activity was decreased when normalized to citrate synthase activity. Mitochondrial content was increased in amyotrophic lateral sclerosis patient platelets. In mononuclear cells, complex I activity declined and mitochondrial content increased progressively with advancing disease stage. The findings are, however, based on small subsets of patients and need to be confirmed. We conclude that when normalized to mitochondria-specific content, complex IV-activity is reduced in blood cells from amyotrophic lateral sclerosis patients and that there is an apparent compensatory increase in cellular mitochondrial content. This supports systemic involvement in amyotrophic lateral sclerosis and suggests further study of mitochondrial function in blood cells as a future biomarker for the

  16. Coping strategies among patients with newly diagnosed amyotrophic lateral sclerosis.

    Science.gov (United States)

    Jakobsson Larsson, Birgitta; Nordin, Karin; Askmark, Håkan; Nygren, Ingela

    2014-11-01

    To prospectively identify different coping strategies among newly diagnosed amyotrophic lateral sclerosis patients and whether they change over time and to determine whether physical function, psychological well-being, age and gender correlated with the use of different coping strategies. Amyotrophic lateral sclerosis is a fatal disease with impact on both physical function and psychological well-being. Different coping strategies are used to manage symptoms and disease progression, but knowledge about coping in newly diagnosed amyotrophic lateral sclerosis patients is scarce. This was a prospective study with a longitudinal and descriptive design. A total of 33 patients were included and evaluation was made at two time points, one to three months and six months after diagnosis. Patients were asked to complete the Motor Neuron Disease Coping Scale and the Hospital Anxiety and Depression Scale. Physical function was estimated using the revised Amyotrophic Lateral Sclerosis Functional Rating Scale. The most commonly used strategies were support and independence. Avoidance/venting and information seeking were seldom used at both time points. The use of information seeking decreased between the two time points. Men did not differ from women, but patients ≤64 years used positive action more often than older patients. Amyotrophic Lateral Sclerosis Functional Rating Scale was positively correlated with positive action at time point 1, but not at time point 2. Patients' psychological well-being was correlated with the use of different coping strategies. Support and independence were the most used coping strategies, and the use of different strategies changed over time. Psychological well-being was correlated with different coping strategies in newly diagnosed amyotrophic lateral sclerosis patients. The knowledge about coping strategies in early stage of the disease may help the nurses to improve and develop the care and support for these patients. © 2014 John Wiley

  17. Progressive multiple sclerosis: prospects for disease therapy, repair, and restoration of function.

    Science.gov (United States)

    Ontaneda, Daniel; Thompson, Alan J; Fox, Robert J; Cohen, Jeffrey A

    2017-04-01

    Multiple sclerosis is a major cause of neurological disability, which accrues predominantly during progressive forms of the disease. Although development of multifocal inflammatory lesions is the underlying pathological process in relapsing-remitting multiple sclerosis, the gradual accumulation of disability that characterises progressive multiple sclerosis seems to result more from diffuse immune mechanisms and neurodegeneration. As a result, the 14 anti-inflammatory drugs that have regulatory approval for treatment of relapsing-remitting multiple sclerosis have little or no efficacy in progressive multiple sclerosis without inflammatory lesion activity. Effective therapies for progressive multiple sclerosis that prevent worsening, reverse damage, and restore function are a major unmet need. In this Series paper we summarise the current status of therapy for progressive multiple sclerosis and outline prospects for the future. Copyright © 2017 Elsevier Ltd. All rights reserved.

  18. Advance in new oral drugs for multiple sclerosis

    Directory of Open Access Journals (Sweden)

    ZHOU Guan-en

    2012-04-01

    Full Text Available Multiple sclerosis is an autoimmune inflammatory demyelinating disease of the central nervous system and represents one of the most common causes of chronic neurologic disability. Until recently, major treatments have relied on agents by injection which can induce injection-related adverse events. The parenteral route of administration may affect the compliance with therapy in multiple sclerosis. Therefore, there is a need for the development of oral agents. The research of five oral drugs (cladribine, fingolimod, teriflunomide, laquinimod and dimethyl fumarate, is carrying out in Phase Ⅲ study. In this article, we review the undergoing clinical trials of these five oral agents.

  19. A case of acute fulminant multiple sclerosis treated with alemtuzumab.

    Science.gov (United States)

    Gobbin, F; Marangi, A; Orlandi, R; Richelli, S; Turatti, M; Calabrese, M; Forgione, A; Alessandrini, F; Benedetti, M D; Monaco, S; Gajofatto, A

    2017-10-01

    We describe the case of a woman who came to our attention for acute onset and very rapidly worsening left hemiplegia, vision loss and cognitive impairment. MRI, laboratory and clinical investigations were highly suggestive of an active inflammatory demyelinating disease. Following exclusion of other possible etiologies, a diagnosis of Marburg's variant multiple sclerosis was made. After repeated high-dose steroids and plasma-exchange, the patient was treated with a first course of alemtuzumab followed by improvement of the clinical and MRI picture. This is the first reported case of Marburg type multiple sclerosis treated with alemtuzumab. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. Temporomandibular joint disorder in systemic sclerosis: a case report

    Science.gov (United States)

    Chebbi, Raja; Khalifa, Hanen Ben; Dhidah, Monia

    2016-01-01

    Systemic sclerosis have several effects on the orofacial region such as widening of the periodontal ligament space, xerostomia and bone resorption of the mandible. We report a case of systemic sclerosis with temporomandibular joint involvement in a 45-year-old female patient accompanied by severe limited mouth opening and pain in the right and left preauricular regions and tenderness in masseter muscles with a morning stiffness of jaws.Magnetic resonance imaging showed a resorption of mandibular condylar process, with disk and joint abnormalities. PMID:28292126