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Sample records for chorea

  1. Chorea disclosing a polycythemia vera

    OpenAIRE

    Liu, Guidong; Chang, Jie; Liu, Zhijun; Qiang, Qiang; Gu, Chunhui; Zhang, Yingying; Wei, Wenshi

    2014-01-01

    Guidong Liu, Jie Chang, Zhijun Liu, Qiang Qiang, Chunhui Gu, Yingying Zhang, Wenshi Wei Department of Neurology, Huadong Hospital, Fudan University, Shanghai, People's Republic of China Abstract: Chorea is a rare complication of polycythemia. We report the case of a 70 year-old woman whose polycythemia vera (PV), with Janus Kinase-2 (JAK2) mutation, presented as chorea. Chorea resolved quickly after hydroxyurea therapy. Keywords: chorea, polycythemia vera, elderly, JAK2

  2. Nonketotic Hyperglycemic Chorea

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    Mahmoud Abdelghany

    2014-01-01

    Full Text Available This is a unique case of nonketotic hyperglycemic (NKH chorea in a 34-year-old white male. The patient had a poorly controlled type 2 diabetes mellitus (DM due to medication incompliance. He complained of polyuria, polydipsia, and weight loss of 20 pounds within a month before presentation. T2-weighted (T2W MRI showed hyperintensity in the left basal ganglion. Glycated hemoglobin (HBA1c was 13.6%. The patient was started on insulin and clonazepam and the chorea resolved after proper control of the glucose level. To our knowledge, this is the first reported case of NKH chorea in a young white male with high T2-weighted (T2W magnetic resonance signal in the basal ganglia.

  3. Sydenham's chorea: clinical and evolutive characteristics

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    Maria Teresa Ramos Ascensão Terreri

    2002-01-01

    Full Text Available CONTEXT: During the last 12 years we have observed an increase in the frequency of Sydenham's chorea in our country. We have observed that some of our patients have presented recurrence of the chorea despite regular treatment with benzathine penicillin. OBJECTIVE: The aim of our study was to evaluate clinical and evolutive characteristics of Sydenham's chorea in a group of patients followed in our Pediatric Rheumatology Unit. TYPE OF STUDY: Retrospective study. SETTING: Section of Pediatric Rheumatology - Discipline of Allergy, Clinical Immunology and Rheumatology - Department of Pediatrics - UNIFESP - EPM. PARTICIPANTS: Two hundred and ninety patients with rheumatic fever followed between 1986 and 1999. METHODS: We reviewed the records of 290 patients with rheumatic fever followed between 1986 and 1999. All patients were diagnosed according to the revised Jones criteria (1992. We included 86 patients that presented Sydenham's chorea as one of the major criteria (one or more attacks and evaluated their clinical and evolutive characteristics as well the treatment. RESULTS: Fifty-five patients were girls and 31 were boys. The mean age at onset was 9.7 years and mean follow-up period was 3.6 years. The 86 Sydenham's chorea patients presented 110 attacks of chorea. We observed isolated chorea in 35% of the patients, and 25 (29% presented one or more recurrences. We included only 17 of the 25 patients for further analysis, with a total of 22 recurrences of which 14 were attacks of chorea, because it was not possible to precisely detect the interval between attacks in the other patients. The approximate interval between the attacks ranged from 4 to 96 months. In 71% of the patients there was no failure in the secondary prophylaxis with benzathine penicillin, which was performed every 3 weeks. CONCLUSION: Despite the regular use of secondary benzathine penicillin prophylaxis, children with rheumatic fever have a high risk of Sydenham's chorea

  4. Hemi chorea hemiballism syndrome: the first presentation of type 2 diabetes mellitus as a rare cause of chorea

    International Nuclear Information System (INIS)

    Mittal, P.

    2011-01-01

    Hemi chorea-hemiballism syndrome, which is most commonly related to non-ketotic hyperglycemia, is a rare type of chorea. Here, we present an unusual case of Hemi chorea-hemiballism syndrome who was not a known case of diabetes. This case highlights the importance of recognising underlying non-ketotic hyperglycemia, as control of hyperglycemia is helpful in the quick relief of symptoms.

  5. Sydenham's chorea: clinical and evolutive characteristics

    OpenAIRE

    Terreri, Maria Teresa Ramos Ascensão [UNIFESP; Roja, Suzana Campos [UNIFESP; Len, Claudio Arnaldo [UNIFESP; Faustino, Patricia Corte [UNIFESP; Roberto, Adriana Madureira [UNIFESP; Hilário, Maria Odete Esteves [UNIFESP

    2002-01-01

    CONTEXT: During the last 12 years we have observed an increase in the frequency of Sydenham's chorea in our country. We have observed that some of our patients have presented recurrence of the chorea despite regular treatment with benzathine penicillin. OBJECTIVE: The aim of our study was to evaluate clinical and evolutive characteristics of Sydenham's chorea in a group of patients followed in our Pediatric Rheumatology Unit. TYPE OF STUDY: Retrospective study. SETTING: Section of Pediatric R...

  6. Corticosteroid treatment in Sydenham's chorea.

    Science.gov (United States)

    Fusco, C; Spagnoli, C

    2018-03-01

    Sydenham's chorea (SC) is an immune-mediated hyperkinetic movement disorder, developing after group A Beta-hemolytic streptococcal (GABHS) infection. Aside from conventional symptomatic treatment (carbamazepine, valproate, neuroleptics), the use of steroids has also been advocated, mainly in severe, drug-resistant cases or if clinically disabling side effects develop with first line therapies. Based on the description of 5 cases followed in the Child Neurology Unit of Santa Maria Nuova Hospital in Reggio Emilia and on the available medical literature on this topic, we propose considering the use of corticosteroids therapy in children with SC, with the administration of IV methyl-prednisolone followed by oral deflazacort in severe cases and of oral deflazacort alone in mild and moderate degrees of involvement. In our experience this therapy is effective both in the short and long-term period, in different clinical presentations (chorea paralytica, distal chorea, hemichorea, "classic" chorea, association with mood disorder or dyspraxia) and very well tolerated (no significant side effects were recorded). Copyright © 2017. Published by Elsevier Ltd.

  7. Essential thrombocythemia: Rare cause of chorea

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    Eswaradass Prasanna Venkatesan

    2014-01-01

    Full Text Available Essential thrombocythemia (ET is a clonal myeloproliferative disorder (MPD, characterized predominantly by a markedly elevated platelet count without known cause. It is rare hematological disorder. In ET clinical picture is dominated by a predisposition to vascular occlusive events and hemorrhages. Headache, transient ischemic attack, stroke, visual disturbances and light headedness are some of the neurological manifestations of ET. Here, we describe a 55 year-old female who presented to us with generalized chorea. On evaluation, she was found to have thrombocytosis. After ruling out the secondary causes of thrombocytosis and other MPD we confirmed diagnosis of ET in her by bone marrow studies. Polycythemia vera (PV another MPD closely related to ET may be present with generalized chorea. There are few case reports of PV presenting as chorea in the literature, but none with ET. We report the first case of ET presenting as generalized chorea.

  8. [Post-herpes simplex encephalitis chorea: Viral replication or immunological mechanism?].

    Science.gov (United States)

    Benrhouma, H; Nasri, A; Kraoua, I; Klaa, H; Turki, I; Gouider-Khouja, N

    2015-09-01

    Herpes simplex encephalitis is a severe neurological condition, whose outcome is improved if treated early with acyclovir. Post-herpes simplex encephalitis with acute chorea has rarely been reported. We report on two observations of children presenting with post-herpes simplex encephalitis with acute chorea, related to two different pathophysiological mechanisms. The first one is an 11-month-old girl developing relapsing herpes simplex encephalitis with chorea due to resumption of viral replication. The second one is a 2-year-old boy with relapsing post-herpes simplex encephalitis acute chorea caused by an immunoinflammatory mechanism. We discuss the different neurological presentations of herpetic relapses, notably those presenting with movement disorders, as well as their clinical, paraclinical, physiopathological, and therapeutic aspects. Post-herpes simplex encephalitis with acute chorea may involve two mechanisms: resumption of viral replication or an immunoinflammatory mechanism. Treatment of post-herpes simplex encephalitis with acute chorea depends on the underlying mechanism, while prevention is based on antiviral treatment of herpes simplex encephalitis with acyclovir at the dose of 20mg/kg/8h for 21 days. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  9. Management of rheumatic chorea: an observational study

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    Araújo Alexandra Prufer de Queiroz Campos

    2002-01-01

    Full Text Available BACKGROUND: Rheumatic chorea (RC has recently been linked to an antibody-mediated immune mechanism. OBJECTIVE/METHOD: To verify if this knowledge reflected in management changes we conceived a descriptive study. RESULTS: The medical charts of 20 children (13 females aged 6 to 12 years (mean 8 years, diagnosed as RC from June 1996 to June 1999, were reviewed. All patients received some medical treatment. Haloperidol was the most prescribed medication (15 patients - 75 %. Sulpiride, diazepam and valproate were also used as symptomatic treatment. Imune-modulating therapy with prednisone was prescribed for seven children. The shortest course of chorea (16 days occurred in a patient treated with prednisone. CONCLUSION: Prednisone has been prescribed for rheumatic chorea besides the traditional symptomatic approach. A great variety of antichoreic drugs are being employed.

  10. Brucellar Chorea – A Rare Manifestation of Brucellosis

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    Smita S. Mangalgi

    2014-07-01

    Full Text Available Brucellar chorea is a rare and unusual presentation of brucellosis. We would hereby like to report a case of Brucellar chorea. The purpose of reporting this case is to create awareness about the neuropsychiatric manifestations of brucellosis. Neurobrucellosis should be considered as one of the differential diagnoses in patients having long-standing fever with neurological manifestations, especially in endemic zones like India.

  11. Beneficial use of immunoglobulins in the treatment of Sydenham chorea

    NARCIS (Netherlands)

    T.D. van Immerzeel (Tabitha); R.M. van Gilst (Ruud); N.G. Hartwig (Nico)

    2010-01-01

    textabstractThis double case report indicates that treatment with intravenous immunoglobulins (IVIG) is effective in patients with Sydenham chorea (SC). SC is a rare but impressive clinical manifestation following streptococcal infection. This movement disorder characterised by chorea, emotional

  12. Chorea in the Both Lower Limbs Associated with Nonketotic Hyperglycemia

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    Young-Hee Sung

    2009-10-01

    Full Text Available Hemichorea-hemiballism (HC-HB is a complication of non-ketotic hyperglycemia (NKH; in NKH patients, the frequency of occurrence of HC-HB is greater than that of bilateral chorea. We report the case of a hyperglycemic patient who showed chorea in both the lower limbs. Magnetic resonance imaging (MRI of the brain revealed high signal intensity on T1-weighted images of the bilateral dorsolateral putamen. The abnormal involuntary movements disappeared after oral administration of haloperidol. Our case report that chorea associated with NKH is correlated with the topography of the basal ganglia.

  13. The Wilson films--Huntington's chorea.

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    Klein, Christine

    2011-12-01

    Wilson's Queen Square Case 9 with Huntington's chorea shows a 68-year-old man with mild to moderate generalized chorea, impaired fixation, and probable cognitive decline in keeping with a diagnosis of Huntington's disease (HD). An age of onset in the late sixties and a negative family history suggest a relatively small expanded trinucleotide repeat in the HTT gene in the patient and reduced penetrance of an even shorter repeat allele in one of his parents. A highly sensitive and specific gene test has been offered worldwide for diagnostic testing of HD for almost two decades. This test, obviously unavailable at Wilson's times, became the historic frontrunner for guidelines of symptomatic, presymptomatic, and prenatal testing for an adult-onset neurodegenerative disorder. Regarding treatment of HD, however, we are still awaiting the successful translation of research results into the development of effective cause-directed, neuropreventive and neurorestaurative therapies. Copyright © 2011 Movement Disorder Society.

  14. CT and MRI findings of chorea associated with nonketotic hyperglycemia

    International Nuclear Information System (INIS)

    Hu Dongjin; Zhang Weidong; Wu Dingquan; Meng Lishi; Chen Jian

    2008-01-01

    Objective: To explore the imaging diagnosis of chorea associated with nonketotic hyperglycemia by describing its CT and MR findings and correlating those findings with the clinical manifestations. Methods: The imaging findings and clinical data from 6 patients with chorea associated with nonketotic hyperglycemia were retrospectively analyzed. All 6 patients had unenhanced CT scans, 1 also had MR imaging examination. Three of 6 patients had follow-up CT scans and 1 of 3 patients had follow-up MR imaging studies. Results: CT studies of all 6 patients showed unilateral or bilateral hyperdense striatum. The putamen was involved in all 6 patients, the caudate nucleus or lateral portion of the globus pallidus were involved in 5 of all 6 patients. All 3 follow-up CT studies depicted a decreased or resolved hyperdensity of the abnormal striatum. T 1 -weighted MR images in 1 patient showed the hyperintense lesions of bilateral lentiform nuclei, T 2 -weighted MR images of the patient showed the hypointense lesions of the corresponding lentiform nuclei, and its follow-up MR images depicted invariable signal intensity of T 1 -weighted and T 2 -weighted images. In all patients, the chorea resolved within 2 to 6 days after treatment of the hyperglycemia. Conclusion: The characteristic imaging findings of chorea associated with nonketotic hyperglycemia can suggest an accurate diagnosis. (authors)

  15. Clinical, laboratory, psychiatric and magnetic resonance findings in patients with Sydenham chorea

    International Nuclear Information System (INIS)

    Faustino, Patricia C.; Terreri, Maria Teresa R.A.; Rocha, Antonio J. da; Zappitelli, Marcelo C.; Lederman, Henrique M.; Hilario, Maria Odete E.

    2003-01-01

    The objective of this study was to determine the clinical and laboratory characteristics, psychiatric manifestations and magnetic resonance imaging (MRI) findings in children and adolescents with Sydenham chorea (SyC). The imaging examination was repeated 1 year after the acute phase of SyC. There were 19 patients with a mean age of 11.7 years and a predominance of females (79%);68% had generalized chorea and 53% moderate chorea. SyC presented as an isolated manifestation in 74%. No association between SyC and obsessive-compulsive disorder was found. Mental health problems were present in 45% of the patients. MRI analysis revealed persistent alterations in the caudate nucleus in three patients (16%), who presented recurrent episodes of chorea during the study. In one patient, MRI revealed the presence of nodular heteropathy close to the caudate nucleus region. We conclude that attention problems can be associated with acute clinical features of SyC and persistent alterations in the basal nuclei, evidenced by MRI, can be found in some patients who tend to suffer prolonged attacks and a greater number of recurrences. (orig.)

  16. Neuro-acanthocytosis a rare cause of chorea

    African Journals Online (AJOL)

    acanthocytosis is a rare neurological disorder characterised by stereotyped chorea, especially of the mouth, areflexia and acanthocytes seen in the peripheral blood. No cases have been described in the literature from. South Africa We report ...

  17. [The life as a caregiver of a person affected by Chorea Huntington: multiple case study].

    Science.gov (United States)

    Winkler, Evi; Ausserhofer, Dietmar; Mantovan, Franco

    2012-10-01

    Chorea Huntington is an autosomal dominantly inherited, neurodegenerative brain disorder that leads to involuntary hyperkinesia, psychotic symptoms and dementia. The illness not only changes the life of the person itself but also the world of the caregivers. The challenges in the care of a person which is affected by Chorea Huntington have an effect on the daily living as an assemblage of natural and social conditions. a multiple case study was conducted. It included semi-structured interviews with three caregivers of people with Chorea Huntington in South Tyrol. The qualitative data was analyzed using the qualitative structured analysis of Mayring (2007). The objective of this study was to describe the phenomenon of change of life from family members that care people affected by Chorea Huntington in a specific cultural setting (South Tyrol, Italy). The caregivers reported that the diagnosis of Chorea Huntington leads to negative changes in "relationship and family". Particularly, frustration, aggression, impatience and apathy were perceived as stressful. At the same time they highlight the positive changes through home care. They report that the relationship became more intimate and integral and it was characterized by more cohesion. Family caregivers get valuable support from the home care service, however, they complain that there is no facility in South Tyrol, which is specialized to care people with Chorea Huntington. Therefore, the caregivers have to "give up a lot" and don't have any personal desires, dreams and expectations for the future. The caregivers have learned independently to deal with their changed life step by step, and to see also the positive effects of the caring role. The life of family caregivers of a person which is affected by Chorea Huntington is characterized by abandonment. A continuous and professional care would be important for the affected and his caregiver. A continuous and professional care is important for both, addressing the

  18. [Sporadic juvenile forms of Huntington's chorea].

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    Zinchenko, A P; Goncharov, V D; Burtianskii, D L; Zakhar'ev, Iu M

    1980-01-01

    Six patients with Huntington's chorea in the age of 15-24 years old, suffered from diffusive choreic hyperkynesis with slowly progressive dementia. The development of this disease in childhood and adolescence was atypical, as nobody in the family and in kin sufferred from it and it was difficult to diagnose the disease. Recognition of the disease was promoted by pneumoencephalography, electromyography and memory investigation.

  19. Mutation in GM2A Leads to a Progressive Chorea-Dementia Syndrome

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    Mustafa A. Salih

    2015-07-01

    Full Text Available Background: The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and variant phenotypes associated with known genes. Methods: We report a Saudi family with a neurodegenerative course dominated by progressive chorea and dementia in whom we performed homozygosity mapping and whole exome sequencing. Results: We identified a homozygous missense mutation in GM2A within a prominent block of homozygosity. This mutation is predicted to impair protein function. Discussion: Although discovered more than two decades ago, to date, only five patients with this rare form of GM2 gangliosidosis have been reported. The phenotype of previously described GM2A patients has been typified by onset in infancy, profound hypotonia and impaired volitional movement, intractable seizures, hyperacusis, and a macular cherry red spot. Our findings expand the phenotypic spectrum of GM2A mutation-positive gangliosidosis to include generalized chorea without macular findings or hyperacusis and highlight how mutations in neurodegenerative disease genes may present in unexpected ways.

  20. Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea.

    Science.gov (United States)

    Carré, G; Marelli, C; Anheim, M; Geny, C; Renaud, M; Rezvani, H R; Koenig, M; Guissart, C; Tranchant, C

    2017-05-15

    The complementation group F of Xeroderma pigmentosum (XP-F) is rare in the Caucasian population, and usually devoid of neurological symptoms. We report two cases, both Caucasian, who exhibited progressive cerebellar ataxia, chorea, a mild subcortical frontal cognitive impairment, and in one case severe polyneuropathy. Brain MRI demonstrated cerebellar (2/2) and cortical (1/2) atrophy. Both patients had only mild sunburn sensitivity and no skin cancer. Mini-exome sequencing approach revealed in ERCC4, two heterozygous mutations, one of which was never described (c.580-584+1delCCAAGG, exon 3), in the first case, and an already reported homozygous mutation, in the second case. These cases emphasize that XP-F is a rare cause of recessive cerebellar ataxia and can in some cases clinically mimic Huntington's disease due to chorea and executive impairment. The association of ataxia, chorea, and sun hypersensitivity are major guidance for the diagnosis, which should not be missed, in order to prevent skin neoplastic complications. Copyright © 2017 Elsevier B.V. All rights reserved.

  1. Chorea: clinical correlates of 119 cases Coréia: análise clínica de 119 casos

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    Maria Fernanda Mendes

    1996-09-01

    Full Text Available Chorea is a clinical syndrome characterized by abnormal involuntary arrhythmic movements, randomly distributed in time, affecting mainly the distal parts of the limbs. There are many diseases associated with chorea but the distribution of the etiologies vary too much in different parts of the world. We intended to study the etiologies of chorea in a Movement Disorders Unit of a university hospital-based outpatient clinic in Brazil. We studied the records of 119 patients with chorea based in the diagnostic criteria of the World Federation of Neurology. Sydenham's chorea (SC was the most frequent cause of chorea (51.3% of our sample. Other common causes were Huntington's chorea (18.5% and chorea post-stroke (9.2%. SC is not commonly seen in developed countries nowadays but is not rare in Brazil. SC patients generally have the clinical manifestation of it in the first 20 years of age and girls are more affected than boys and this feature was observed in our sample. Based on our own experience and in the review of the literature we propose an etiological classification of chorea.Coréia é uma síndrome caracterizada por movimentos involuntários arrítmicos, rápidos, abruptos, não repetitivos no tempo e com distribuição variável, preferentemente distal. O número de entidades clínicas reconhecidamente associadas a movimentos coréicos tem se tornado cada vez maior com o passar do tempo. Propusemo-nos estudar a frequência e algumas características epidemiológicas das coréias atendidas em um ambulatório especializado em distúrbios do movimento. Foram estudados os prontuários de 119 pacientes com o diagnóstico sindrômico de coréia. O predomínio absoluto foi de coréia de Sydenham (CS com 51,3% do total da amostra. Outras causas frequentes foram doença de Huntington (DH presente em 18,5% e a coréia secundária a doença cerebrovascular em 9,2% dos pacientes. O sexo feminino predominou em todas as faixas etárias, mas principalmente

  2. Remifentanil in a patient with Huntington's chorea - case report ...

    African Journals Online (AJOL)

    Relatively few published case reports related to the anaesthetic management of Huntington's chorea (HC) exist. At the time of surgery no publications were found related to remifentanil's use in patients with HC. This case report describes the management of a confirmed HC patient requiring urgent decompression of a spinal ...

  3. The presentation and evaluation of a case of systemic Lupus erythematosus and anthiphospholipid antibody syndrome with primary clinical manifestation of chorea

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    Asgary S

    1998-06-01

    Full Text Available Manifestation of chorea in patients with systemic lupus erythematosus (SLE and antiphospholipid antibody syndrome (APA synd. is not common. Moreover, primary presentation of the disease with chorea is rare and only few such cases are reported in literature in recent years. We report here the case of a 28 year old woman who was first seen at the age of 10 with clinical manifestations of chorea. Later she developed deep vein thrombosis, thrombocytpenia, stroke, cardiac valve involvement and recurrent abortions. Laboratory investigations confirmed the diagnosis of SLE and the presence of antiphospholipid antibodies. We present this patient as a case of SLE and antiphospholipid antibody syndrome with chorea being her primary clinical presentation

  4. Sydenham's chorea: MRI and proton spectroscopy

    International Nuclear Information System (INIS)

    Castillo, M.; Kwock, L.; Arbelaez, A.

    1999-01-01

    We present the MRI and proton spectroscopy findings in a child with clinical diagnosis of Sydenham's chorea. MRI showed high signal in the caudate nuclei and putamina on T2-weighted images. We believe that the spectra showed an abnormality in the number and/or function of neurons, lipids from cellular breakdown (cytolytic effect of antibodies), aminoacids (related to the presence of antibodies in the neostriatum), and sugars (also related to the presence of antibodies). The spectroscopy features correlate well with the histopathology and biochemistry of this rare disorder. (orig.)

  5. Lumbar Puncture Alleviates Chorea in a Patient with Huntington’s Disease and Normal Pressure Hydrocephalus

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    Peyman Shirani

    2009-01-01

    Full Text Available A 44-year-old African-American male was admitted to our hospital after a suicide attempt. He had depression, poor cognitive function, choreiform movements, difficulty pronouncing words, and difficulty walking. His symptoms had worsened markedly over several months. Chorea lead to genetic testing that confirmed a diagnosis of Huntington Disease (HD. A CT scan of the head showed wider ventricles than is typical of HD. The head CT and gait change suggested normal pressure hydrocephalus (NPH. Lumbar puncture (LP led to improved neuropsychologic test scores and walking thereby supporting the diagnosis of NPH. Surprisingly, the LP also led to an 80% improvement of chorea. There are two other reports of an association between HD and NPH. NPH should be considered in HD patients with atypical symptoms, such as the inability to walk or rapid progression, as its treatment may lead to improved cognition, gait, and chorea.

  6. Safety and Efficacy of Tetrabenazine and Use of Concomitant Medications During Long-Term, Open-Label Treatment of Chorea Associated with Huntington's and Other Diseases

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    Vivienne Shen

    2013-10-01

    Full Text Available Background: Although tetrabenazine, a drug that depletes presynaptic dopamine by inhibiting vesicular monoamine transporter 2 (VMAT2, was approved by the U.S. Food and Drug Administration in 2008 for the treatment of chorea associated with Huntington’s disease (HD, there is a paucity of data on its long‐term efficacy and safety.Methods: Approximately 2,000 patients with a variety of hyperkinetic movement disorders had been treated with open‐label tetrabenazine at the Movement Disorders Clinic, Baylor College of Medicine, since 1979. Tetrabenazine was usually started at 12.5 mg/day, and the dosage was gradually increased (up to 300 mg/day. Responses were rated by the investigator 1–5, with 1  =  marked chorea reduction, excellent improvement in function; 2  =  moderate chorea reduction, very good improvement in function; 3  =  fair chorea improvement, only mild improvement in function; 4  =  poor or no response for chorea and function; and 5  =  worsening chorea, some functional deterioration. Efficacy and safety were analyzed retrospectively.Results: By 2004, 98 HD chorea patients had received tetrabenazine for a mean of 3.1 years (range ≤1–11.4 years. Of those with valid ratings, 75% had either marked or very good responses (rating 1 or 2 at their optimal dosages. The most common adverse events occurring in ≥5% of the patients were somnolence (39%, insomnia (33%, depression (31%, accidental injury (26%, and dysphagia (19%. Efficacy and safety were comparable to results for non‐HD chorea patients.Discussion: Tetrabenazine treatment was associated with long‐term improvement in chorea. Adverse event rates were comparable to those reported from controlled trials.

  7. Sydenham Chorea in a Girl with Dextrocardia and Situs Inversus

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    Alireza Vakilian

    2017-06-01

    Full Text Available Sydenham Chorea (SC is a childhood disease that most frequently occurs after infection with group A β-hemolytic streptococcus species. SC is the most commonly acquired childhood chorea, usually affecting 5 to 15-year-old children. Dextrocardia situs inversus refers to the heart being situated on the right side of the body. We found a case of SC with coexisting dextrocardia and situs inversus, which is rare to our knowledge. A 14-year-old girl was referred to Ali-Ibn-Abiltaleb Hospital due to choreoathetotic movements more in her upper than lower extremities, which impaired her usual function. Antistreptolysin O (ASO titer was high. Her throat culture was positive for streptococci beta hemolytic. In cardiac study, moderate mitral regurgitation, tricuspid regurgitation, diastolic dysfunction, conus in the Right Ventricle Outlet (RVOT, rightsided aortic arch, dextrocardia, and situs inversus were reported. This was a rare case with SC that had such anomalies.

  8. Functional Impact of Sydenham's Chorea: A Case Report

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    Hortensia Gimeno

    2013-04-01

    Full Text Available Background: Sydenham's chorea (SC is the most common type of acquired chorea in childhood. In some cases, symptoms (most commonly described in terms of neurological signs last up to 2 years, and many cases relapse. This report describes the clinical course in terms of functional abilities following diagnosis of SC. Case report: Standardized assessments across the domains of activity and participation were administered following diagnosis, prior to and following treatment with haloperidol to measure treatment response and identify occupational therapy intervention needs. SC was observed to significantly reduce the child's participation and independence in activities of daily living. In this case, the standardized assessments administered highlighted difficulties with both motor and process skills. At 1 week after commencing haloperidol, both motor and process skills had improved. Clinically significant changes in self-care and mobility were noted with less improvement with handwriting. At 9 weeks, most symptoms and functional difficulties had resolved. Discussion: Given the process difficulties detected in this case, and the possibility of enduring symptoms, the use of functional assessments is advocated in the routine management of SC. These findings illustrate the potential for motor and non-motor sequelae in acute childhood movement disorders and related functional disabling consequences.

  9. Eighth International Chorea-Acanthocytosis Symposium : Summary of Workshop Discussion and Action Points

    NARCIS (Netherlands)

    Pappas, Samuel S; Bonifacino, Juan; Danek, Adrian; Dauer, William T; De, Mithu; De Franceschi, Lucia; DiPaolo, Gilbert; Fuller, Robert; Haucke, Volker; Hermann, Andreas; Kornmann, Benoit; Landwehrmeyer, Bernhard; Levin, Johannes; Neiman, Aaron M; Rudnicki, Dobrila D; Sibon, Ody; Velayos-Baeza, Antonio; Vonk, Jan J; Walker, Ruth H; Weisman, Lois S; Albin, Roger L

    2017-01-01

    Chorea-Acanthocytosis (ChAc) is a rare hereditary neurological disorder characterized by abnormal movements, red blood cell pathology, and progressive neurodegeneration. Little is understood of the pathogenesis of ChAc and related disorders (collectively Neuroacanthocytosis). The Eighth

  10. Chorea in systemic lupus erythematosus: evidence for bilateral putaminal hypermetabolism on F-18 FDG PET

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    Seo, Wook Jang; Chung, Son Mi; Koh, Su Jin; Lee, Chang Keun; Yoo, Bin; Moon, Hee Bom [College of Medicine, Ulsan Univ., Seoul (Korea, Republic of); Kim, Jae Seung; Im, Joo Hyuk [Asan Medical Center, Seoul (Korea, Republic of)

    2003-10-01

    We describe a 54-year-old woman with systemic lupus erythematosus (SLE) who suddenly presented with chorea and had positive antiphospholipid antibodies. F-18 FDG PET showed abnormally increased glucose metabolism in bilateral putamen and primary motor cotex. Tc-99m ECD SPECT also showed abnormally increased regional cerebral blood flow in bilateral putamen. She was treated with corticosteroid and aspirin after which the symptoms improved. Four months later, follow up F-18 FDG PET showed improvement with resolution of hypermetabolism in bilateral putamen. This case suggests that striatal hypermetabolism is associated with chorea in SLE.

  11. Chorea and high altitude erythrocytosis: a case report

    OpenAIRE

    Torres-Ramírez, Luis; Departamento de Enfermedades Neurodegenerativas, Instituto Nacional de Ciencias Neurológicas. Lima, Perú. Médico neurólogo; Ramírez-Quiñones, Jorge; Departamento de Enfermedades Neurodegenerativas, Instituto Nacional de Ciencias Neurológicas. Lima, Perú. médico residente de Neurología.; Vélez-Rojas, Miriam; Departamento de Enfermedades Neurodegenerativas, Instituto Nacional de Ciencias Neurológicas. Lima, Perú. Médico neurólogo; Flores-Mendoza, Martha; Departamento de Enfermedades Neurodegenerativas, Instituto Nacional de Ciencias Neurológicas. Lima, Perú. Médico neurólogo

    2014-01-01

    Chorea is a movement disorder which is rarely caused by erythrocytosis. Erithrocytosis or polycythemia is the augmentation of the absolute erythrocytic mass and its most common primary cause is polycythemia vera. Some of the secondary causes are erythrocytosis by central hipoxia occurring in people who live in the highlands. Chore is a rare neurological manifestation of erythrocytosis occurring in 0.5 to 2% of these patients. There was a report of a 71 year-old male patient with generalized c...

  12. Chorea--an unusual manifestation in a woman recovering from myxedema coma.

    Science.gov (United States)

    Yu, Catherine H Y; Stovel, Rebecca; Fox, Susan

    2012-01-01

    To report a case of reversible chorea in a woman with myxedema coma. We describe the clinical course, imaging findings, and laboratory test results of a patient who initially presented with myxedema coma and then developed reversible chorea upon treatment. A 33-year-old woman with a known history of primary hypothyroidism presented with a 3-week history of lethargy, progressing to a precipitous decline in consciousness that required intubation. Physical examination revealed concurrent hypothermia and bradycardia. Laboratory investigations demonstrated a thyrotropin concentration greater than 100 mIU/L, a free triiodothyronine concentration of 1.9 pg/mL, and a free thyroxine concentration of 0.24 ng/dL, but no other metabolic abnormalities. She was treated with intravenous levothyroxine therapy on the first 2 days of hospital admission (200 mcg and 250 mcg, respectively). On day 2, she was obeying commands and she was extubated. She began exhibiting choreiform movements. Thyroid function test results revealed a normal free thyroxine concentration (1.10 ng/dL), but an elevated thyrotropin concentration (40.98 mIU/L) and a low free triiodothyronine concentration (1.9 pg/mL). Findings from computed tomography and magnetic resonance imaging of her brain and analysis of cerebrospinal fluid were normal. Her regimen was transitioned to oral levothyroxine, 88 mcg daily, and by day 4, her choreiform movements ceased. Neurologic manifestations of hypothyroidism include psychomotor slowing, memory deficits, and dementia, with myxedema coma at the extreme of this spectrum. Although chorea is a rare manifestation of hyperthyroidism, this is the first report of a patient with acquired, reversible choreiform movement disorder while still being severely hypothyroid and treated with levothyroxine.

  13. De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

    NARCIS (Netherlands)

    Mencacci, N.E.; Kamsteeg, E.J.; Nakashima, K.; R'Bibo, L.; Lynch, D.S.; Balint, B.; Willemsen, M.A.A.P.; Adams, M.E.; Wiethoff, S.; Suzuki, K.; Davies, C.H.; Ng, J.; Meyer, E.; Veneziano, L.; Giunti, P.; Hughes, D.; Raymond, F.L.; Carecchio, M.; Zorzi, G.; Nardocci, N.; Barzaghi, C.; Garavaglia, B.; Salpietro, V.; Hardy, J.; Pittman, A.M.; Houlden, H.; Kurian, M.A.; Kimura, H.; Vissers, L.E.L.M.; Wood, N.W.; Bhatia, K.P.

    2016-01-01

    Chorea is a hyperkinetic movement disorder resulting from dysfunction of striatal medium spiny neurons (MSNs), which form the main output projections from the basal ganglia. Here, we used whole-exome sequencing to unravel the underlying genetic cause in three unrelated individuals with a very

  14. Tetrabenazine: the first approved drug for the treatment of chorea in US patients with Huntington disease

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    Samuel Frank

    2010-09-01

    Full Text Available Samuel FrankBoston University School of Medicine, Boston, Massachusetts, USAAbstract: Huntington disease (HD is a dominantly inherited progressive neurological disease characterized by chorea, an involuntary brief movement that tends to flow between body regions. HD is typically diagnosed based on clinical findings in the setting of a family history and may be confirmed with genetic testing. Predictive testing is available to those at risk, but only experienced clinicians should perform the counseling and testing. Multiple areas of the brain degenerate mainly involving the neurotransmitters dopamine, glutamate, and γ-aminobutyric acid. Although pharmacotherapies theoretically target these neurotransmitters, few well-conducted trials for symptomatic or neuroprotective interventions yielded positive results. Tetrabenazine (TBZ is a dopamine-depleting agent that may be one of the more effective agents for reducing chorea, although it has a risk of potentially serious adverse effects. Some newer antipsychotic agents, such as olanzapine and aripiprazole, may have adequate efficacy with a more favorable adverse-effect profile than older antipsychotic agents for treating chorea and psychosis. This review will address the epidemiology and diagnosis of HD as background for understanding potential pharmacological treatment options. Because TBZ is the only US Food and Drug Administration-approved medication in the United States for HD, the focus of this review will be on its pharmacology, efficacy, safety, and practical uses. There are no current treatments to change the course of HD, but education and symptomatic therapies can be effective tools for clinicians to use with patients and families affected by HD.Keywords: dopamine-depleting agent, neuroleptics, tetrabenazine

  15. Two new European species of Dicranomyia Stephens, 1829, related to D. (s.str.) chorea (Meigen, 1818) (Diptera, Limnoniidae)

    NARCIS (Netherlands)

    Stary, Jaroslav

    1993-01-01

    Diagnostic features of the so-called Dicranomyia chorea group are discussed. Two new species are described, D. (s. str.) radegasti sp. n. from Czechoslovakia and D. (s. str.) kamakensis sp. n. from Bulgaria, and their male genitalia are illustrated. Attention is paid to the shape of the tarsal

  16. Short and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosis.

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    Marie Miquel

    Full Text Available Chorea-acanthocytosis (ChAc is a neuroacanthocytosis syndrome presenting with severe movement disorders poorly responsive to drug therapy. Case reports suggest that bilateral deep brain stimulation (DBS of the ventro-postero-lateral internal globus pallidus (GPi may benefit these patients. To explore this issue, the present multicentre (n=12 retrospective study collected the short and long term outcome of 15 patients who underwent DBS.Data were collected in a standardized way 2-6 months preoperatively, 1-5 months (early and 6 months or more (late after surgery at the last follow-up visit (mean follow-up: 29.5 months.Motor severity, assessed by the Unified Huntington's Disease Rating Scale-Motor Score, UHDRS-MS, was significantly reduced at both early and late post-surgery time points (mean improvement 54.3% and 44.1%, respectively. Functional capacity (UHDRS-Functional Capacity Score was also significantly improved at both post-surgery time points (mean 75.5% and 73.3%, respectively, whereas incapacity (UHDRS-Independence Score improvement reached significance at early post-surgery only (mean 37.3%. Long term significant improvement of motor symptom severity (≥ 20 % from baseline was observed in 61.5 % of the patients. Chorea and dystonia improved, whereas effects on dysarthria and swallowing were variable. Parkinsonism did not improve. Linear regression analysis showed that preoperative motor severity predicted motor improvement at both post-surgery time points. The most serious adverse event was device infection and cerebral abscess, and one patient died suddenly of unclear cause, 4 years after surgery.This study shows that bilateral DBS of the GPi effectively reduces the severity of drug-resistant hyperkinetic movement disorders such as present in ChAc.

  17. An infant who had chorea-athetotic movement and psychomotor deterioration associated with the low density area in the bilateral cerebral basal ganglia on CT

    International Nuclear Information System (INIS)

    Tojo, Megumu; Matsui, Akira; Sakuragawa, Norio; Hirayama, Yoshito; Arima, Masataka

    1984-01-01

    A 6-year-old girl with convulsive tetraplegia and chorea-athetotic movement was reported. Since the age of one year, psychomotor retardation had begun to occur and CT showed a low density area in the putamen. At the age of 3 years and 6 months, psychomotor deterioration occurred subsequently to varicella. An abnormality in carbohydrate metabolism was suspected because of a slightly increased lactic acid and pyruvic acid. Because CT showed a low density area in the cerebral basal ganglia, juvenile Lee's encephalopathy and striatal necrosis remained to be ruled out. (Namekawa, K.)

  18. Neurotensin receptor binding levels in basal ganglia are not altered in Huntington's chorea or schizophrenia

    International Nuclear Information System (INIS)

    Palacios, J.M.; Chinaglia, G.; Rigo, M.; Ulrich, J.; Probst, A.

    1991-01-01

    Autoradiographic techniques were used to examine the distribution and levels of neurotensin receptor binding sites in the basal ganglia and related regions of the human brain. Monoiodo ( 125 I-Tyr3)neurotensin was used as a ligand. High amounts of neurotensin receptor binding sites were found in the substantia nigra pars compacta. Lower but significant quantities of neurotensin receptor binding sites characterized the caudate, putamen, and nucleus accumbens, while very low quantities were seen in both medial and lateral segments of the globus pallidus. In Huntington's chorea, the levels of neurotensin receptor binding sites were found to be comparable to those of control cases. Only slight but not statistically significant decreases in amounts of receptor binding sites were detected in the dorsal part of the head and in the body of caudate nucleus. No alterations in the levels of neurotensin receptor binding sites were observed in the substantia nigra pars compacta and reticulata. These results suggest that a large proportion of neurotensin receptor binding sites in the basal ganglia are located on intrinsic neurons and on extrinsic afferent fibers that do not degenerate in Huntington's disease

  19. Behavioral, Pharmacological, and Immunological Abnormalities after Streptococcal Exposure: A Novel Rat Model of Sydenham Chorea and Related Neuropsychiatric Disorders

    Science.gov (United States)

    Brimberg, Lior; Benhar, Itai; Mascaro-Blanco, Adita; Alvarez, Kathy; Lotan, Dafna; Winter, Christine; Klein, Julia; Moses, Allon E; Somnier, Finn E; Leckman, James F; Swedo, Susan E; Cunningham, Madeleine W; Joel, Daphna

    2012-01-01

    Group A streptococcal (GAS) infections and autoimmunity are associated with the onset of a spectrum of neuropsychiatric disorders in children, with the prototypical disorder being Sydenham chorea (SC). Our aim was to develop an animal model that resembled the behavioral, pharmacological, and immunological abnormalities of SC and other streptococcal-related neuropsychiatric disorders. Male Lewis rats exposed to GAS antigen exhibited motor symptoms (impaired food manipulation and beam walking) and compulsive behavior (increased induced-grooming). These symptoms were alleviated by the D2 blocker haloperidol and the selective serotonin reuptake inhibitor paroxetine, respectively, drugs that are used to treat motor symptoms and compulsions in streptococcal-related neuropsychiatric disorders. Streptococcal exposure resulted in antibody deposition in the striatum, thalamus, and frontal cortex, and concomitant alterations in dopamine and glutamate levels in cortex and basal ganglia, consistent with the known pathophysiology of SC and related neuropsychiatric disorders. Autoantibodies (IgG) of GAS rats reacted with tubulin and caused elevated calcium/calmodulin-dependent protein kinase II signaling in SK-N-SH neuronal cells, as previously found with sera from SC and related neuropsychiatric disorders. Our new animal model translates directly to human disease and led us to discover autoantibodies targeted against dopamine D1 and D2 receptors in the rat model as well as in SC and other streptococcal-related neuropsychiatric disorders. PMID:22534626

  20. Acoustic analysis of prosody in Sydenham's chorea Análise acústica da prosódia em coréia de Sydenham

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    Patrícia M Oliveira

    2010-10-01

    Full Text Available There are few studies of language and speech in patients with Sydenham's chorea (SC. We have done an acoustic analysis of fundamental frequency (F0, duration and intensity of declarative and interrogative sentences made by 20 SC patients, 20 patients with rheumatic fever (RF without chorea, and compared them with 20 healthy age-matched controls (CO. Each group included 12 females. We found that there is no difference between the RF and CO groups in all studied parameters. Patients with SC, however, presented with a speech characterized by decreased F0 range (difference between minimum and maximum F0, shorter duration of sentences, and higher intensity of the first syllable of sentences. The findings were not influenced by the nature of the sentences (i.e. , declarative or interrogative, but for all variables they were significantly more severe in males than females. In conclusion, we have demonstrated that patients with acute SC have an impairment of modulation of F0 and longer duration of emission of sentences, resulting in a monotone and slow speech. This pattern is similar to what has been described in other basal ganglia illnesses, such as Parkinson's disease, Huntington's disease and Wilson's disease.Há poucos estudos sobre linguagem e fala em pacientes com coréia de Sydenham (CS. Fizemos uma análise acústica da freqüência fundamental (F0, duração e intensidade de sentenças declarativas e interrogativas feitas por 20 pacientes com CS, 20 pacientes com febre reumática (FR sem coréia, comparando-os com 20 controles saudáveis e pareados por idade (CO. Cada grupo incluiu 12 mulheres. Foi encontrado que não há diferença entre os grupos FR e CO quanto a todos parâmetros estudados. Pacientes com CS, contudo, apresentaram-se com fala caracterizada pela redução da variação de F0 (diferença entre F0 mínima e máxima, duração mais curta das sentenças e maior intensidade da primeira sílaba das sentenças. Os achados não foram

  1. Sydenham chorea

    Science.gov (United States)

    ... The provider may also prescribe antibiotics to prevent future RF infections. This is called preventive antibiotics, or ... AE. Other movement disorders. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine . 25th ed. Philadelphia, PA: ...

  2. Comparison of the efficacy of carbamazepine, haloperidol and valproic acid in the treatment of children with Sydenham´s chorea: clinical follow-up of 18 patients Comparación de la eficacia de carbamazepina, haloperidol y acido valproico en el tratamiento de niños con corea de Sydenham: seguimiento clínico de 18 pacientes

    Directory of Open Access Journals (Sweden)

    Joaquín Peña

    2002-06-01

    Full Text Available In order to compare and contrast the efficacy of haloperidol, carbamazepine, and valproic acid in the treatment of Sydenham´s chorea a prospective study including 18 cases of this disorder was undertaken. Age of patients ranged from 7 to 15 years. Ten children were female and 8 were male. All but one had generalized, either symmetric or asymmetric chorea. The patients were divided in three equal groups, and were given a standardized dose of each of the drugs built-up over a week. Following therapy, the six children receiving valproic acid showed remarkable improvement, without side effects. Five patients receiving carbamazepine showed improvement without side effects. Only three of the patients that received haloperidol improved. In the 4 cases that did not show clinical improvement after one week of treatment, therapy with valproic acid led to disappearance of the symptoms in a lapse that ranged from 4 to 7 days. Recurrence related to discontinuation of treatment was observed in two patients. In view of the present results we recommend valproic acid as the first choice drug to treat Sydenham chorea.A fin de comparar y contrastar la eficacia de haloperidol, carbamazepina y ácido valproico en el tratamiento de la corea de Sydenham, se realizó un estudio prospectivo que incluyó 18 casos de esta patología. La edad de los pacientes varió de 7 a 15 años. Diez de los niños eran varones y el resto hembras. A excepción de uno de ellos, todos tenían corea generalizada, simétrica ó asimétrica. Los pacientes fueron divididos en tres grupos iguales, a cada uno de los cuales se le administró una dosis estandarizada de los medicamentos mencionados durante una semana. Luego del tratamiento, los seis pacientes que recibieron ácido valproico mostraron mejoría notable sin efectos colaterales. Cinco de los seis pacientes que recibieron carbamazepina exhibieron mejoría sin efectos colaterales. Solo tres de los pacientes que recibieron haloperidol

  3. Facial cellulitis revealing choreo-acanthocytosis: A case report ...

    African Journals Online (AJOL)

    We report a 62 year-old-man with facial cellulitis revealing choreo-acanthocytosis (ChAc). He showed chorea that started 20 years ago. The orofacial dyskinisia with tongue and cheek biting resulted in facial cellulitis. The peripheral blood smear revealed acanthocytosis of 25%. The overall of chorea, orofacial dyskinetic ...

  4. A Case Of Transient Ischemic Attack Presenting As Hemichroea

    Directory of Open Access Journals (Sweden)

    Hasan Hüseyin Özdemir

    2013-12-01

    Full Text Available Chorea is defined as; involuntary movements of the distal parts of limbs which have arrhythmic, rapid, bouncing or smooth, simple or complex properties. Choreiform movements occur when putamen, globus pallidus and subthalamic nucleus are affected. Chorea can be observed during the course of metabolic and vascular diseases, neurodegenerative or hereditary diseases. Chorea may be a rare symptom of cerebral hypoperfusion. Transient ischemic attack is an event that occurs in short term characterized by a temporary ischemia of brain. A wide variety of symptoms can be seen depending on the localization of cerebral hypoperfusion. Hemichorea is a very rare finding observed during transient ischemic attacks. In this article hemichorea in a case of symptomatic transient ischemic attack is discussed with relevant literature.

  5. The human dorsal spinocerebellar tract: myelinated fiber spectrum and fiber density in controls, autosomal dominant spinocerebellar atrophy, Huntington's chorea, radiation myelopathy, and diseases with peripheral sensory nerve involvement

    Energy Technology Data Exchange (ETDEWEB)

    Ringelstein, E.B.; Schroeder, J.M.

    1982-01-01

    The human dorsal spinocerebellar tract (DSCT) was evaluated morphometrically in 14 control cases of different age and sex using semithin sections of epon-embedded cross sections from the C3, T5, and T10 segments of the spinal cord. A bimodal fiber spectrum was revealed with one peak at 2-3 microns, and a second, broader peak at about 6-8 microns. Fiber density at C3 was 11,188 fibers/mm2 and at T5, 11,156 fibers/mm2. Regression analysis relating fiber density to age disclosed a highly significant loss of myelinated fibers at T5 amounting to about 2.5% per decade. A severe reduction of fiber density and a distinct change in the fiber spectrum with predominant loss of large myelinated fibers were noted in a case of autosomal dominant spinocerebellar atrophy with late onset, and, to a lesser degree, in a case of Huntington's chorea. A subtotal loss of fibers with a persistent normal distribution of fiber sizes was observed rostral to a focus of severe radiation myelopathy, indicating Wallerian degeneration of large numbers of fibers, and a reduction of fiber diameters caudal to the lesion, suggesting retrograde fiber change. By contrast, no primary or transneural changes in the DSCT were detected in six cases of long-term alcoholism, carcinomatous sensory neuropathy, and neurofibromatosis in spite of the involvement of numerous nerve roots.

  6. Computerized tomography in amyotrophic choreo-acanthocytosis

    International Nuclear Information System (INIS)

    Serra, S.; Xerra, A.; Meduri, M.; Di Perri, R.; Scribano, E.

    1987-01-01

    CT has been performed in five patients affected by amyotrophic choreo-acanthocytosis (ACA) and bicaudate diameter, bicaudate index and frontal horn-bicaudate ratio (FH/CC) have been evaluated. Findings have been confirmatory of caudate nuclei atrophy as shown by previous ACA autopsy reports, but did not differ from Huntington's chorea CT picture. There was no correlation between CT measurements and age, illness duration or degree of hyperkinesia in contradistinction to that reported for Huntington's chorea. (orig.)

  7. Successful deep brain stimulation surgery with intraoperative magnetic resonance imaging on a difficult neuroacanthocytosis case: case report.

    Science.gov (United States)

    Lim, Thien Thien; Fernandez, Hubert H; Cooper, Scott; Wilson, Kathryn Mary K; Machado, Andre G

    2013-07-01

    Chorea acanthocytosis is a progressive hereditary neurodegenerative disorder characterized by hyperkinetic movements, seizures, and acanthocytosis in the absence of any lipid abnormality. Medical treatment is typically limited and disappointing. We report on a 32-year-old patient with chorea acanthocytosis with a failed attempt at awake deep brain stimulation (DBS) surgery due to intraoperative seizures and postoperative intracranial hematoma. He then underwent a second DBS operation, but under general anesthesia and with intraoperative magnetic resonance imaging guidance. Marked improvement in his dystonia, chorea, and overall quality of life was noted 2 and 8 months postoperatively. DBS surgery of the bilateral globus pallidus pars interna may be useful in controlling the hyperkinetic movements in neuroacanthocytosis. Because of the high propensity for seizures in this disorder, DBS performed under general anesthesia, with intraoperative magnetic resonance imaging guidance, may allow successful implantation while maintaining accurate target localization.

  8. Movement disorders in paraneoplastic and autoimmune disease

    Science.gov (United States)

    Panzer, Jessica; Dalmau, Josep

    2013-01-01

    Purpose of review The most relevant advances in immune-mediated movement disorders are described, with emphasis on the clinical–immunological associations, novel antigens, and treatment. Recent findings Many movement disorders previously considered idiopathic or degenerative are now recognized as immune-mediated. Some disorders are paraneoplastic, such as anti-CRMP5-associated chorea, anti-Ma2 hypokinesis and rigidity, anti-Yo cerebellar ataxia and tremor, and anti-Hu ataxia and pesudoathetosis. Other disorders such as Sydenham's chorea, or chorea related to systemic lupus erythematosus and antiphospholipid syndrome occur in association with multiple antibodies, are not paraneoplastic, and are triggered by molecular mimicry or unknown mechanisms. Recent studies have revealed a new category of disorders that can be paraneoplastic or not, and associate with antibodies against cell-surface or synaptic proteins. They include anti-N-methyl-d-aspartate receptor (anti-NMDAR) encephalitis, which may cause dyskinesias, chorea, ballismus or dystonia (NMDAR antibodies), the spectrum of Stiff-person syndrome/muscle rigidity (glutamic acid decarboxylase, amphiphysin, GABAA-receptor-associated protein, or glycine receptor antibodies), neuromyotonia (Caspr2 antibodies), and opsoclonus–myoclonus–ataxia (unknown antigens). Summary Neurologists should be aware that many movement disorders are immune-mediated. Recognition of these disorders is important because it may lead to the diagnosis of an occult cancer, and a substantial number of patients, mainly those with antibodies to cell-surface or synaptic proteins, respond to immunotherapy. PMID:21577108

  9. Relationship between movement disorders and obsessive-compulsive disorder: beyond the obsessive-compulsive-tic phenotype. A systematic review.

    Science.gov (United States)

    Fibbe, Lieneke A; Cath, Danielle C; van den Heuvel, Odile A; Veltman, Dick J; Tijssen, Marina A J; van Balkom, Anton J L M

    2012-06-01

    Obsessive-compulsive disorder (OCD) and symptoms (OC symptoms) are associated with tic disorders and share an aetiological relationship. The extent to which OCD/OC symptoms are correlated with other hyperkinetic movement disorders is unclear. The aim of this review was to investigate this co-occurrence and the extent to which OCD/OC symptoms and hyperkinetic movement disorders share a neurobiological basis. A systematic review was performed, specifically searching for OCD/OC symptom comorbidity in hyperkinetic movement disorders using case control studies, longitudinal studies and family based studies. The literature search was conducted using PubMed and PsycINFO databases. Heterogeneity of measurement instruments to detect OCD diagnosis and OC symptoms decreased comparability between studies. The most convincing evidence for a relationship was found between the choreas (Huntington's disease and Sydenham's chorea) and OCD/OC symptoms. Furthermore, elevated frequencies of OC symptoms were found in small case control series of dystonias. Small family based studies in dystonia subtypes modestly suggest shared familial/genetic relationships between OC symptoms and dystonia. Current data indicate a relationship between OCD/OC symptoms and the choreas. As OCD and the choreas have been associated with dysfunctional frontal-striatal circuits, the observed relationships might converge at the level of dysfunctions of these circuits. However, paucity of longitudinal and family studies hampers strong conclusions on the nature of the relationship. The relationship between OCD and movement disorders needs further elaboration using larger family based longitudinal studies and sound instruments to characterise OC symptomatology. This could lead to better understanding of the shared pathology between OCD and hyperkinetic movement disorders.

  10. Grey matter volume loss is associated with specific clinical motor signs in Huntington's disease.

    Science.gov (United States)

    Coppen, Emma M; Jacobs, Milou; van den Berg-Huysmans, Annette A; van der Grond, Jeroen; Roos, Raymund A C

    2018-01-01

    Motor disturbances are clinical hallmarks of Huntington's disease (HD) and involve chorea, dystonia, hypokinesia and visuomotor dysfunction. Investigating the association between specific motor signs and different regional volumes is important to understand the heterogeneity of HD. To investigate the motor phenotype of HD and associations with subcortical and cortical grey matter volume loss. Structural T1-weighted MRI scans of 79 HD patients and 30 healthy controls were used to calculate volumes of seven subcortical structures including the nucleus accumbens, hippocampus, thalamus, caudate nucleus, putamen, pallidum and amygdala. Multiple linear regression analyses, corrected for age, gender, CAG, MRI scan protocol and normalized brain volume, were performed to assess the relationship between subcortical volumes and different motor subdomains (i.e. eye movements, chorea, dystonia, hypokinesia/rigidity and gait/balance). Voxel-based morphometry analysis was used to investigate the relationship between cortical volume changes and motor signs. Subcortical volume loss of the accumbens nucleus, caudate nucleus, putamen, and pallidum were associated with higher chorea scores. No other subcortical region was significantly associated with motor symptoms after correction for multiple comparisons. Voxel-based cortical grey matter volume reductions in occipital regions were related with an increase in eye movement scores. In HD, chorea is mainly associated with subcortical volume loss, while eye movements are more related to cortical volume loss. Both subcortical and cortical degeneration has an impact on motor impairment in HD. This implies that there is a widespread contribution of different brain regions resulting in the clinical motor presentation seen in HD patients. Copyright © 2017 Elsevier Ltd. All rights reserved.

  11. Sydenham Chorea (Saint Vitus Dance)

    Science.gov (United States)

    ... of obsessive-compulsive disorder, attention deficit/hyperactivity disorder, tic disorders, and autism, which they call PANDAS, for Pediatric ... of obsessive-compulsive disorder, attention deficit/hyperactivity disorder, tic disorders, and autism, which they call PANDAS, for Pediatric ...

  12. Genetics Home Reference: chorea-acanthocytosis

    Science.gov (United States)

    ... AIM.0013. Citation on PubMed Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carrè S, ...

  13. Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.

    Science.gov (United States)

    Garcia-Moreno, Hector; Fassihi, Hiva; Sarkany, Robert P E; Phukan, Julie; Warner, Thomas; Lehmann, Alan R; Giunti, Paola

    2018-01-01

    Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease-like syndromes. The first case (group G) presented with neuropsychiatric features, cognitive decline and chorea. Typical lentigines were only noticed after the neurological disease started. The second case (group B) presented adult-onset chorea and neuropsychiatric symptoms after an aggressive ocular melanoma. Xeroderma pigmentosum can manifest as a Huntington's Disease-like syndrome. Classic dermatological and oncological features have to be investigated in choreic patients with negative genetic tests for Huntington's disease-like phenotypes.

  14. Neuronal antibody biomarkers for Sydenham's chorea identify a new group of children with chronic recurrent episodic acute exacerbations of tic and obsessive compulsive symptoms following a streptococcal infection.

    Science.gov (United States)

    Singer, Harvey S; Mascaro-Blanco, Adda; Alvarez, Kathy; Morris-Berry, Christina; Kawikova, Ivana; Ben-Pazi, Hilla; Thompson, Carol B; Ali, Syed F; Kaplan, Edward L; Cunningham, Madeleine W

    2015-01-01

    Several autoantibodies (anti-dopamine 1 (D1R) and 2 (D2R) receptors, anti-tubulin, anti-lysoganglioside-GM1) and antibody-mediated activation of calcium calmodulin dependent protein kinase II (CaMKII) signaling activity are elevated in children with Sydenham's chorea (SC). Recognizing proposed clinical and autoimmune similarities between SC and PANDAS (pediatric autoimmune neuropsychiatric disorder associated with a streptococcal infection), we sought to identify serial biomarker changes in a slightly different population. Antineuronal antibodies were measured in eight children (mean 11.3 years) with chronic, dramatic, recurrent tics and obsessive-compulsive disorder (OCD) associated with a group A β-hemolytic streptococcal (GABHS) respiratory tract infection, but differing because they lacked choreiform movements. Longitudinal serum samples in most subjects included two pre-exacerbation samples, Exac), one midst Exac (abrupt recurrence of tic/OCD; temporally association with a GABHS infection in six of eight subjects), and two post-Exac. Controls included four groups of unaffected children (n = 70; mean 10.8 years) obtained at four different institutions and published controls. Clinical exacerbations were not associated with a significant rise in antineuronal antibody titers. CaMKII activation was increased at the GABHS exacerbation point in 5/6 subjects, exceeded combined and published control's 95th percentile at least once in 7/8 subjects, and median values were elevated at each time point. Anti-tubulin and anti-D2R titers did not differ from published or combined control group's 95th percentile or median values. Differences in anti-lysoganglioside-GM1 and anti-D1R titers were dependent on the selected control. Variances in antibody titers and CaMKII activation were identified among the institutional control groups. Based on comparisons to published studies, results identify two groups of PANDAS: 1) a cohort, represented by this study, which lacks choreiform

  15. Neuronal antibody biomarkers for Sydenham's chorea identify a new group of children with chronic recurrent episodic acute exacerbations of tic and obsessive compulsive symptoms following a streptococcal infection.

    Directory of Open Access Journals (Sweden)

    Harvey S Singer

    Full Text Available Several autoantibodies (anti-dopamine 1 (D1R and 2 (D2R receptors, anti-tubulin, anti-lysoganglioside-GM1 and antibody-mediated activation of calcium calmodulin dependent protein kinase II (CaMKII signaling activity are elevated in children with Sydenham's chorea (SC. Recognizing proposed clinical and autoimmune similarities between SC and PANDAS (pediatric autoimmune neuropsychiatric disorder associated with a streptococcal infection, we sought to identify serial biomarker changes in a slightly different population. Antineuronal antibodies were measured in eight children (mean 11.3 years with chronic, dramatic, recurrent tics and obsessive-compulsive disorder (OCD associated with a group A β-hemolytic streptococcal (GABHS respiratory tract infection, but differing because they lacked choreiform movements. Longitudinal serum samples in most subjects included two pre-exacerbation samples, Exac, one midst Exac (abrupt recurrence of tic/OCD; temporally association with a GABHS infection in six of eight subjects, and two post-Exac. Controls included four groups of unaffected children (n = 70; mean 10.8 years obtained at four different institutions and published controls. Clinical exacerbations were not associated with a significant rise in antineuronal antibody titers. CaMKII activation was increased at the GABHS exacerbation point in 5/6 subjects, exceeded combined and published control's 95th percentile at least once in 7/8 subjects, and median values were elevated at each time point. Anti-tubulin and anti-D2R titers did not differ from published or combined control group's 95th percentile or median values. Differences in anti-lysoganglioside-GM1 and anti-D1R titers were dependent on the selected control. Variances in antibody titers and CaMKII activation were identified among the institutional control groups. Based on comparisons to published studies, results identify two groups of PANDAS: 1 a cohort, represented by this study, which lacks

  16. Hemichorea after ischemic stroke

    Directory of Open Access Journals (Sweden)

    Sadullah Saglam

    2016-03-01

    Full Text Available The deterioration of the balance between direct and indirect ways in the basal ganglia causes chorea. The lesions of contralateral basal ganglia, thalamus or the connection of them all together are responsible for this. Chorea can be observed during the course of metabolic and vascular diseases, neurodegenerative or hereditary diseases. Hyperkinetic movement disorders after acute ischemic stroke are reported as rare; however, hemichorea is the most frequent developing disorder of hyperkinetic movement as a result of cerebrovascular disease. In this case report, we presented two case who applied us with choreiform movements in his left half of the body after acute thalamic stroke. [Cukurova Med J 2016; 41(0.100: 29-32

  17. Wernicke's encephalopathy with chorea: Neuroimaging findings

    Directory of Open Access Journals (Sweden)

    Jivago S. Sabatini

    Full Text Available ABSTRACT We present a case report of motor and cognitive disorders in a 36-year-old woman with a history of twelve years of heavy alcohol abuse. The patient presented depressive symptoms over the course of one year after a loss in the family, evolving with ataxia, bradykinesia and choreiform movements. Progressive cognitive decline, sleep alterations and myalgia were also reported during the course of disease evolution. Physical examination revealed spastic paraparesis with fixed flexion of the hips and knees with important pain upon extension of these joints. Initial investigation suggested the diagnosis of thiamine deficiency by brain magnetic resonance imaging (MRI.

  18. Glossary of ALS-Related Medical and Scientific Terms

    Science.gov (United States)

    ... dyskinesia An involuntary movement including athetosis and chorea. dysphagia Difficulty in swallowing. dystonia A slow movement or ... Paralysis of a muscle or group of muscles. Parkinson's Disease The most common form of Parkinson's is ...

  19. Disease: H00860 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available ory problems. Features supporting this diagnosis include normal general examination with no dysmorphic featu...ive skills, absence of other significant neurologic disturbances, and, with the exception of chorea, normal neurologic examination

  20. Disease: H00655 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00655 McLeod syndrome McLeod syndrome is an X-linked multisystem disorder including the CNS (chorea, epile...psy), the PNS (axonal polyneuropathy), and the blood cells (acanthocytosis of the e

  1. Genetics Home Reference: familial paroxysmal nonkinesigenic dyskinesia

    Science.gov (United States)

    ... slow, prolonged contraction of muscles (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs ( ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related ...

  2. Genetics Home Reference: familial paroxysmal kinesigenic dyskinesia

    Science.gov (United States)

    ... involve slow, prolonged muscle contractions (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs ( ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related ...

  3. Positron computed tomography studies: potential use in neuro-psychiatric disorders

    International Nuclear Information System (INIS)

    Yamasaki, T.; Tateno, Y.; Shishido, F.

    1982-01-01

    Since November 1979 positron computed tomography (PCT) have been performed to study subjects in a variety of states and varied disorders, using 13 NH 3 , 11 CO and 18 F-2-fluorodeoxyglucose ( 18 FDG) at the National Institute of Radiological Sciences, Japan. In neuro-psychiatric studies, normal volunteers and patients including schizophrenia, affective disorders, Alzheimer's disease, Huntigton's chorea were studied. Tomographic images were analyzed by visual observation and activity counting in regions selected. In degenerative disorder group, 18 FDG revealed decreased accumulation in target areas, whereas in functional psychosis group both in medicating patients and in non-medicated patients, positron images were basically similar to normal controls. Especially in a patient with Huntington's chorea, 18 FDG accumulation in striatal region was markedly decreased without significant change in the same region on X-ray CT and 13 NH 3 PCT

  4. Neuroimaging findings in movement disorders

    International Nuclear Information System (INIS)

    Topalov, N.

    2015-01-01

    Full text: Neuroimaging methods are of great importance for the differential diagnostic delimitation of movement disorders associated with structural damage (neoplasms, ischemic lesions, neuroinfections) from those associated with specific pathophysiological mechanisms (dysmetabolic disorders, neurotransmitter disorders). Learning objective: Presentation of typical imaging findings contributing to nosological differentiation in groups of movement disorders with similar clinical signs. In this presentation are discussed neuroimaging findings in Parkinson‘s disease, atypical parkinsonian syndromes (multiple system atrophy, progressive supranuclear palsy, corticobasal degeneration), parkinsonism in genetically mediated diseases (Wilson’s disease, pantothenate kinase-associated neurodegeneration – PKAN), vascular parkinsonism, hyperkinetic movement disorders (palatal tremor, Huntington‘s chorea, symptomatic chorea in ischemic stroke and diabetes, rubral tremor, ballismus, hemifacial spasm). Contemporary neuroimaging methods enable support for diagnostic and differential diagnostic precision of a number of hypo- and hyperkinetic movement disorders, which is essential for neurological clinical practice

  5. Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)

    NARCIS (Netherlands)

    Barth, Peter G.; Ryan, Monique M.; Webster, Richard I.; Aronica, Eleonora; Kan, Alex; Ramkema, Marja; Jardine, Philip; Poll-The, Bwee Tien

    2008-01-01

    Pontocerebellar hypoplasia type 2, an autosomal recessive neurodegeneration with prenatal onset, is characterised by progressive microcephaly and chorea/dystonia and has not previously been associated with muscular involvement. The gene associated with PCH-2 is unknown. An episode of rhabdomyolysis

  6. Is Tourette's syndrome an autoimmune disease?

    NARCIS (Netherlands)

    Hoekstra, PJ; Kallenberg, CGM; Korf, J; Minderaa, RB

    2002-01-01

    We provide a review of recent research findings which support the involvement of autoimmunity in childhood-onset tic disorders, in particular the presence of antineuronal autoantibodies, D8/17 B lymphocyte overexpression, a marker of chorea associated with streptococcal infection, and possible

  7. Reversal learning and associative memory impairments in a BACHD rat model for Huntington disease

    NARCIS (Netherlands)

    Abada, Yah-se K.; Nguyen, Huu Phuc; Ellenbroek, Bart; Schreiber, Rudy

    2013-01-01

    Chorea and psychiatric symptoms are hallmarks of Huntington disease (HD), a neurodegenerative disorder, genetically characterized by the presence of expanded CAG repeats (>35) in the HUNTINGTIN (HTT) gene. HD patients present psychiatric symptoms prior to the onset of motor symptoms and we recently

  8. Eighth International Chorea–Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points

    Directory of Open Access Journals (Sweden)

    Samuel S. Pappas

    2017-02-01

    Full Text Available Chorea-Acanthocytosis (ChAc is a rare hereditary neurological disorder characterized by abnormal movements, red blood cell pathology, and progressive neurodegeneration. Little is understood of the pathogenesis of ChAc and related disorders (collectively Neuroacanthocytosis. The Eighth International Chorea-Acanthocytosis Symposium was held in May 2016 in Ann Arbor, MI, USA, and focused on molecular mechanisms driving ChAc pathophysiology. Accompanying the meeting, members of the neuroacanthocytosis research community and other invited scientists met in a workshop to discuss the current understanding and next steps needed to better understand ChAc pathogenesis. These discussions identified several broad and critical needs for advancing ChAc research and patient care, and led to the definition of 18 specific action points related to functional and molecular studies, animal models, and clinical research. These action points, described below, represent tractable research goals to pursue for the next several years.

  9. Continuous drug delivery in early- and late-stage Parkinson's disease as a strategy for avoiding dyskinesia induction and expression

    NARCIS (Netherlands)

    Jenner, P.; McCreary, A. C.; Scheller, D. K. A.

    2011-01-01

    The treatment of the motor symptoms of Parkinson's disease (PD) is dependent on the use of dopamine replacement therapy in the form of l-dopa and dopamine agonist drugs. However, the development of dyskinesia (chorea, dystonia, athetosis) can become treatment limiting. The initiation of dyskinesia

  10. African Heath Sciences Vol 7 No 3.p65

    African Journals Online (AJOL)

    FOMCS2

    nifestations such as recurrent abortions, arterial and venous thrombosis, and thrombocytopenia3. Cutaneous symptoms of this syndrome include leg ulcers and livedo reticularis4. Neurological disorders such as dementia, epilepsy, chorea and migraine5 can also occur. The first antiphospholipid antibody was detected in ...

  11. JPH3 Repeat Expansions Cause a Progressive Akinetic-Rigid Syndrome with Severe Dementia and Putaminal Rim in a Five-Generation African-American Family

    Science.gov (United States)

    Schneider, Susanne A.; Marshall, Kate E.; Xiao, Jianfeng; LeDoux, Mark S.

    2012-01-01

    We report the clinical, neuropsychological, genetic and radiological features of a large five-generation African-American kindred from the southern United States presenting with a progressive akinetic-rigid syndrome and severe dementia, but clinically insignificant chorea, due to mutations in JPH3. Overt disease onset was in the mid-twenties to late thirties with cognitive decline, REM sleep disturbance or psychiatric features, followed by development of a levodopa-unresponsive akinetic-rigid motor syndrome. Dystonia and myoclonus were present in some subjects. A bedridden, non-verbal severely akinetic-rigid state developed within 10 to 15 years after onset. CTG repeat expansions ranged from 47 to 53. Imaging revealed generalized cerebral atrophy with severe striatal involvement and putaminal rim hyperintensity. Analysis of our kindred indicates that JPH3 mutations should be considered in the differential diagnosis of early-onset dementia and hypokinetic-rigid syndromes in individuals of African descent. Moreover, chorea may not be overtly manifest at presentation or during significant parts of the disease course. PMID:22447335

  12. Xeroderma Pigmentosum/De Sanctis-Cacchione Syndrome: Unusual Cause of Ataxia

    Directory of Open Access Journals (Sweden)

    Robert Fekete

    2014-03-01

    Full Text Available Introduction: Xeroderma pigmentosum (XP is a rare autosomal recessive disorder of DNA repair, with a prevalence of 1 in 1 million. It may also be a cause of neurological symptoms including sensorineural hearing loss, peripheral neuropathy, ataxia, and chorea. Severe neurological symptoms including mental retardation, short stature, and hypogonadism invoke De Sanctis-Cacchione syndrome (DCS. Case Report: The patient was a 55-year-old woman with a history of mental retardation who developed chorea at age 32 and ataxia at age 37. She had numerous facial scars from 10 prior basal cell carcinoma excisions as well as diminished deep tendon reflexes, bilateral hearing loss, dysphagia, and skin freckling. Brain MRI revealed severe cortical, cerebellar, and brainstem atrophy. Supportive treatment and prevention of further damage from UV light is the mainstay of treatment in XP and DCS. Conclusion: XP and related disorders should be considered in the setting of neurological disorder and multiple cutaneous cancers.

  13. Behavioral Consequences of Kainic Acid Lesions and Fetal Transplants of the Striatum

    Science.gov (United States)

    1984-06-12

    pp. 51-56). New York: Raven Press. Bruyn, G.W., De Young, F.H., & Van Der Molen , J.H. (1972). Hiintington’s chorea and the adrenal. British...218, 347-356. Schroeder, K. (1931). Zur klinik und pathologie der Huntingtonshen krankheit, Jurnal fur Psychologie und Neurologic. 43, 183-201

  14. Drosophila Vps13 Is Required for Protein Homeostasis in the Brain

    NARCIS (Netherlands)

    Vonk, Jan J.; Yeshaw, Wondwossen M.; Pinto, Francesco; Faber, Anita I. E.; Lahaye, Liza L.; Kanon, Bart; van der Zwaag, Marianne; Velayos-Baeza, Antonio; Freire, Raimundo; van IJzendoorn, Sven C.; Grzeschik, Nicola A.; Sibon, Ody C. M.

    2017-01-01

    Chorea-Acanthocytosis is a rare, neurodegenerative disorder characterized by progressive loss of locomotor and cognitive function. It is caused by loss of function mutations in the Vacuolar Protein Sorting 13A (VPS13A) gene, which is conserved from yeast to human. The consequences of VPS13A

  15. Ketotic hyperglycemia with movement disorder

    Directory of Open Access Journals (Sweden)

    Disha Awasthi

    2012-01-01

    Full Text Available Chorea, hemichorea-hemiballismus and severe partial seizures may be the presenting features of nonketotic hyperglycemia in older adults with type 2 diabetes, but cases in young adults with type 1 diabetes are rare. We hereby report a very rare case of diabetic ketosis with movement disorder in a young patient.

  16. [Development, problems and results of specialty-specific genetic counseling at the Neurology Clinic of the Karl Marx University].

    Science.gov (United States)

    Bachmann, H

    1987-11-01

    Genetic counselling for inherited neurological diseases has been established at the Clinic for Neurology of Karl Marx University. Comprehensive experiences have been got with the specific and sometimes markedly different problems and aims of counselling in Wilsons disease, X-linked recessive muscular dystrophies, myotonic dystrophy and other neuromuscular disorders, Huntingtons chorea and hereditary ataxias.

  17. Disease: H00913 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00913 Choreoathetosis, hypothyroidism, and neonatal respiratory distress Choreoathetosis, hypothyroidism..., and neonatal respiratory distress is a syndrome of congenital hypothyroidism associ... Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia cau... mutation in a family with hypothyroidism and benign hereditary chorea. ... JOURNAL ... Thyroid 18:1005-9 (2008) DOI:10.1089/thy.2008.0085

  18. Early Controversies over Athetosis: I. Clinical Features, Differentiation from other Movement Disorders, Associated Conditions, and Pathology

    Directory of Open Access Journals (Sweden)

    Douglas J. Lanska

    2013-03-01

    Full Text Available Background: Since the description of athetosis in 1871 by American neurologist William Alexander Hammond (1828-1900 the disorder has been a source of controversy, as were many aspects of Hammond’s career.  Methods: Review of controversies in the semi-centennial since the description of athetosis.  Results: Hammond struggled to establish athetosis as a distinct clinic-pathological entity, and had successfully predicted the striatal pathology in his initial case (albeit somewhat serendipitously.  Athetosis was, nevertheless, considered by many neurologists to be a form of post-hemiplegic chorea or part of a continuum between chorea and dystonia. European neurologists, and particularly the French, initially ignored or discounted the concept. Additional controversies arose over whether the movements persisted during sleep, whether athetosis was, or could be, associated with imbecility or insanity, and how it should be treated. Discussion: Some controversies concerning athetosis served to identify areas where knowledge was insufficient to make accurate statements, despite prior self-assured or even dogmatic statements to the contrary.  Other controversies illustrated established prejudices, even if these biases were often only apparent with the greater detachment of hindsight. 

  19. Comparison of D2 receptor binding (123I-IBZM) and rCBF (99mTc-HMPAO) in extrapyramidal disorders

    International Nuclear Information System (INIS)

    Saur, H.B.; Bartenstein, P.; Schober, O.; Oberwittler, C.; Lerch, H.; Masur, H.

    1994-01-01

    The aim of this SPECT study was to determine whether there is a correlation between rCBF ( 99m Tc-HMPAO) and D2 receptor binding ( 123 I-IBZM) in disorders of the extrapyramidal system and in which situation the 99 MTc-HMPAO scan could predict the outcome of the 123 I-IBZM study. 13 patients with Parkinson's syndrome and 13 patients with hyperkinetic extrapyramidal disorders were studied. In all patients the two SPECT studies were performed within 2-7 days. ROIs were placed over the basal ganglia (BG), the frontal cortex (FC) and the cerebellum (CE). The ratios BG/FC and BG/CE were calculated. In both groups the scatter was lower when the frontal cortex was used as reference region. Among the patients with hyperkinetic extrapyramidal hyperkinetic extrapyramidal disorders the two patients with Huntington's chorea had lower rCBF and D2 receptor binding compared to other hyperkinetic extrapyramidal disorders. There was no correlation between D2 receptor binding and rCBF in the basal ganglia. The 99 MTc-HMPAO studies did not provide clinically useful information, except in Huntington's chorea. (orig.) [de

  20. Antiphospholipid Antibody Syndrome Presenting with Hemichorea

    Directory of Open Access Journals (Sweden)

    Yezenash Ayalew

    2012-01-01

    Full Text Available A 25-year-old Bangladeshi lady presented to neurology with a three-month history of involuntary movements of her right arm, associated with loss of power. There was progression to the right leg, and she subsequently developed episodes of slurred speech and blurred vision. At the time of presentation, she was 12 weeks pregnant and the symptoms were reported to have started at conception. Past medical history was unremarkable apart from one first trimester miscarriage and there was no significant family history suggestive of a hereditary neurological condition. MRI of the head revealed no abnormalities but serology showed positive antinuclear antibodies (ANAs at a titre of 1/400. Further investigations revealed strongly positive anticardiolipin antibodies (>120 and positive lupus anticoagulant antibodies. The patient had a second miscarriage at 19 weeks gestation strengthening the possibility that the chorea was related to antiphospholipid antibody syndrome and she was started on a reducing dose of Prednisolone 40 mg daily and aspirin 300 mg daily. Six months later, she had complete resolution of neurological symptoms. There are several reports of chorea as a feature of antiphospholipid syndrome, but no clear consensus on underlying pathophysiology.

  1. Calculation of the equilibrium distribution for a deleterious gene by the finite Fourier transform.

    Science.gov (United States)

    Lange, K

    1982-03-01

    In a population of constant size every deleterious gene eventually attains a stochastic equilibrium between mutation and selection. The individual probabilities of this equilibrium distribution can be computed by an application of the finite Fourier transform to an appropriate branching process formula. Specific numerical examples are discussed for the autosomal dominants, Huntington's chorea and chondrodystrophy, and for the X-linked recessive, Becker's muscular dystrophy.

  2. Huntington's disease: a clinical review

    Directory of Open Access Journals (Sweden)

    Roos Raymund AC

    2010-12-01

    Full Text Available Abstract Huntington disease (HD is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school (Juvenile Huntington's disease; JHD. The classic sign is chorea that gradually spreads to all muscles. All psychomotor processes become severely retarded. Patients experience psychiatric symptoms and cognitive decline. HD is an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more on the short arm of chromosome 4p16.3 in the Huntingtine gene. The longer the CAG repeat, the earlier the onset of disease. In cases of JHD the repeat often exceeds 55. Diagnosis is based on clinical symptoms and signs in an individual with a parent with proven HD, and is confirmed by DNA determination. Pre-manifest diagnosis should only be performed by multidisciplinary teams in healthy at-risk adult individuals who want to know whether they carry the mutation or not. Differential diagnoses include other causes of chorea including general internal disorders or iatrogenic disorders. Phenocopies (clinically diagnosed cases of HD without the genetic mutation are observed. Prenatal diagnosis is possible by chorionic villus sampling or amniocentesis. Preimplantation diagnosis with in vitro fertilization is offered in several countries. There is no cure. Management should be multidisciplinary and is based on treating symptoms with a view to improving quality of life. Chorea is treated with dopamine receptor blocking or depleting agents. Medication and non-medical care for depression and aggressive behavior may be required. The progression of the disease leads to a complete dependency in daily life, which

  3. Deep Brain Stimulation in Huntington’s Disease—Preliminary Evidence on Pathophysiology, Efficacy and Safety

    Directory of Open Access Journals (Sweden)

    Lars Wojtecki

    2016-08-01

    Full Text Available Huntington’s disease (HD is one of the most disabling degenerative movement disorders, as it not only affects the motor system but also leads to cognitive disabilities and psychiatric symptoms. Deep brain stimulation (DBS of the pallidum is a promising symptomatic treatment targeting the core motor symptom: chorea. This article gives an overview of preliminary evidence on pathophysiology, safety and efficacy of DBS in HD.

  4. Medical management of motor manifestations of Huntington disease.

    Science.gov (United States)

    McCusker, Elizabeth A; Loy, Clement T

    2017-01-01

    The motor and movement disorders of Huntington disease (HD) are managed in the context of the other disease features. Chorea and dystonia are the most common HD-associated movement disorders, and they can be assessed on research rating scales. However other motor manifestations have a significant impact. In particular, dysphagia influences choice and tolerance of treatment for the movement disorder, as will comorbidities, patient awareness, and distress related to the motor feature or movement. Treatment for other disease features may aggravate the motor disorder, e.g., increased swallowing difficulty associated with antipsychotic agents. Basic principles in deciding to institute a treatment are outlined as well as treatment of specific motor manifestations and movements. There is a paucity of evidence to support the treatments available for the motor disorder, with only one agent with class 1 evidence, tetrabenazine, for chorea. There are, however, treatments informed by expert opinion which reflect the management of a wider HD phenotype than that represented in clinical trials. Some treatments are based on evidence from use in other conditions. Medical management is usually undertaken later in the disease with concurrent nonmedical interventions after multidisciplinary assessments. Medication review with HD progression is essential. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. A Rare Case of Psychomotor Disturbances Linked to the Use of an Adulterated Dietary Supplement Containing Sibutramine.

    Science.gov (United States)

    Shapira, Barak; Goldstein, Lee; Reshef, Amikam; Poperno, Alina

    2016-01-01

    Sibutramine, an oral anorexiant, is often found as an adulterant in various counterfeit herbal slimming products and dietary supplements. The use of sibutramine has been associated with various cardiovascular and psychiatric symptoms. Here, we report a rare case of psychomotor disturbances, in a patient with no previously diagnosed movement disorders. A 26-year-old woman developed abnormal behavior, visual hallucinations, hyperkinesia, facial flushing, and dizziness after taking a counterfeit dietary supplement which contained undeclared sibutramine and phenolphtalein. Laboratory work-up revealed microcytic anemia; leucopenia; and elevated erythrocyte sedimentation rate, C-reactive protein levels, and antistreptolysin O titer, but rheumatic fever was ruled out. After a neurologic examination, involuntary movements were classified as chorea. The psychiatric examination result was unremarkable. The patient responded well to haloperidol therapy. Body temperature, erythrocyte sedimentation rate, and C-reactive protein levels eventually normalized. The patient was discharged. This is the first report we are aware of about a transient, chorea-like psychomotor movement disorder associated with sibutramine. Although the causal relationship between sibutramine and the patient's symptoms cannot be proven definitely, the temporal dimension does suggest sibutramine initiation and termination led to onset and resolution of symptoms, respectively. Furthermore, because of the widespread availability of adulterated food supplements containing sibutramine, physicians should be more aware of their implications for patients.

  6. Transgenic mice expressing a Huntington s disease mutation are resistant to quinolinic acid-induced striatal excitotoxicity

    OpenAIRE

    Hansson, Oskar; Petersén, Åsa; Leist, Marcel; Nicotera, Pierluigi; Castilho, Roger F.; Brundin, Patrik

    1999-01-01

    Huntington’s disease (HD) is a hereditary neurodegenerative disorder presenting with chorea, dementia, and extensive striatal neuronal death. The mechanism through which the widely expressed mutant HD gene mediates a slowly progressing striatal neurotoxicity is unknown. Glutamate receptor-mediated excitotoxicity has been hypothesized to contribute to the pathogenesis of HD. Here we show that transgenic HD mice expressing exon 1 of a human HD gene with an expanded number of CAG repeats (line R...

  7. On the application of positron computed tomography to neuro-psychiatric diseases

    International Nuclear Information System (INIS)

    Kodama, Kazuhiro; Tateno, Yukio; Shishido, Fumio.

    1983-01-01

    Reports on the application of positron CT (PCT) to neuropsychiatric diseases were introduced, and this method was compared with conventional methods for the measurement of cerebral circulation/metabolism and with XCT. Currently, PCT is used in physiological study, the study of the intracranial distribution of chlorpromazine and measurements of the cerebral flow rate, glucose consumption and oxygen consumption in patients with Hungtinton's chorea, dimentia, epilepsy and schizophrenia. Their new data are available. (Chiba, N.)

  8. Clinical and genetic study of a juvenile-onset Huntington disease

    Directory of Open Access Journals (Sweden)

    HAO Ying

    2012-06-01

    Full Text Available Background Huntington's disease (HD is an autosomal dominant hereditary progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dementia, cognitive and affective impairment. There are selective neural cell loss and atrophy in the caudate and putamen. Dr. George Huntington firstly described the disease accurately and insightfully, which led to a widespread recognition of the inherited chorea that now bears his name. Huntington disease gene (IT15 locus on chromosome 4p16.3, and encompasses 67 exons with a trinucleotide repeat (CAG in the first exon. The CAG repeat length is highly polymorphic in the population and expanded on at least one chromosome of individuals with HD. Clinically, patient with HD are often onset in adulthood. Juvenile-onset HD is relatively rare. Adult-onset HD patients usually have a CAG expansion from 40 to 55 whereas those with juvenile-onset greater than 60 which are often inherited from the father. We investigated the clinical features of a juvenile-onset case with Huntington disease and dynamic mutation of his family. Methods The CAG repeats of IT15 gene were detected using polymerase chain reaction and capillary electrophoresis in 115 individuals with preliminary diagnosis as Huntington disease. The repeat numbers of some samples carried expanded or intermediate alleles were verified by the pMD18-T vector clone sequencing. Results Fragment analysis showed that one juvenile-onset case presenting with cognitive dysfunction and hypokinesis carried 15/68 CAG repeats of IT15. His father carried 17/37 and mother carried 15/17. Conclusion 1 The juvenile-onset case of HD presented with different clinical features compared with adult-onset cases. The typical signs of adult-onset cases include progressive chorea, rigidity and dementia. The most common sign of juvenile-onset Huntington disease is cognitive decline. 2 The dynamic mutation of IT15 gene expansion of the CAG repeats in the

  9. Rhabdomyolysis Related to Dyskinesia in Parkinson’s Disease

    OpenAIRE

    Bektaş, Hesna; Deniz, Orhan; Temel, Şadiye; Keklikoğlu, Hava Dönmez; Akyol, Şener

    2014-01-01

    Rhabdomyolysis is a life threatening syndrome. It accounts for an estimated 8% to 15% of cases of acute renal failure and is associated with a mortality rate of 5%. In movement disorders, various causes of rhabdomyolysis have been reported including status dystonicus, myoclonus, generalized chorea and parkinsonism-hyperprexia syndrome in Parkinson’s disease (PD). Levodopa-induced dyskinesia leading to rhabdomyolysis is a very rare phenomenon in PD. We report a case of 76 years old PD patient ...

  10. Huntington's disease presenting as amyotrophic lateral sclerosis.

    LENUS (Irish Health Repository)

    Phukan, Julie

    2010-08-01

    We present the clinical, electrophysiological and molecular genetic findings of a 58-year-old male with genetically confirmed Huntington\\'s disease (HD) and concurrent clinically definite ALS by El Escorial criteria. The patient presented with asymmetric upper limb amyotrophy and weakness, and subsequently developed chorea and cognitive change. Genetic testing confirmed the presence of expanded trinucleotide repeats in huntingtin, consistent with a diagnosis of Huntington\\'s disease. This case confirms the rare coexistence of Huntington\\'s disease and motor neuron degeneration.

  11. Platysmal myoclonus in subclinical hyperthyroidism.

    Science.gov (United States)

    Teoh, Hock-Luen; Lim, Erle Chuen-Hian

    2005-08-01

    Hyperthyroidism is associated with various movement disorders, such as chorea and tremors. We report on a young Chinese woman with an unusual presentation of myoclonus, involving both platysmal muscles, in association with subclinical hyperthyroidism. The myoclonus was preceded by symptoms of hyperthyroidism, namely weight loss, menstrual disturbances, and heat intolerance. The movements abated with clonazepam and hyperthyroidism was treated with carbimazole. The myoclonus recurred briefly when she stopped taking clonazepam, but she has since remained well and euthyroid. Copyright 2005 Movement Disorder Society

  12. Rhabdomyolysis Related to Dyskinesia in Parkinson’s Disease

    Directory of Open Access Journals (Sweden)

    Hesna Bektaş

    2014-04-01

    Full Text Available Rhabdomyolysis is a life threatening syndrome. It accounts for an estimated 8% to 15% of cases of acute renal failure and is associated with a mortality rate of 5%. In movement disorders, various causes of rhabdomyolysis have been reported including status dystonicus, myoclonus, generalized chorea and parkinsonism-hyperprexia syndrome in Parkinson’s disease (PD. Levodopa-induced dyskinesia leading to rhabdomyolysis is a very rare phenomenon in PD. We report a case of 76 years old PD patient with dyskinesia and rhabdomyolysis.

  13. Role of Ca+2 and other second messengers in excitatory amino acid receptor mediated neurodegeneration: clinical perspectives

    DEFF Research Database (Denmark)

    Schousboe, A; Belhage, B; Frandsen, A

    1997-01-01

    Neurodegeneration associated with neurological disorders such as epilepsy, Huntington's Chorea, Alzheimer's disease, and olivoponto cerebellar atrophy or with energy failure such as ischemia, hypoxia, and hypoglycemia proceeds subsequent to overexposure of neurons to excitatory amino acids of which...... glutamate and aspartate may be quantitatively the most important. The toxic action of glutamate and aspartate is mediated through activation of glutamate receptors of the N-methyl-D-aspartate (NMDA) and non-NMDA subtypes. Antagonists for these receptors can act as neuroprotectants both in in vitro model...

  14. Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up.

    Science.gov (United States)

    Dulski, J; Sołtan, W; Schinwelski, M; Rudzińska, M; Wójcik-Pędziwiatr, M; Wictor, L; Schön, F; Puschmann, A; Klempíř, J; Tilley, L; Roth, J; Tacik, P; Fujioka, S; Drozdowski, W; Sitek, E J; Wszolek, Z; Sławek, J

    2016-08-01

    To provide clinical clues to differential diagnosis in patients with chorea and other movement disorders with blood acanthocytes. We present a long-term video accompanied follow-up of six Caucasian patients with neuroacanthocytosis from several centers, three diagnosed with chorea-acanthocytosis (ChAc): 34-y.o.(no.1), 36-y.o.(no.2), 43-y.o.(no.3), two diagnosed with McLeod Syndrome (MLS): 52-y.o.(no.4), 61-y.o.(no.5) and one 63-y.o.(no.6), a brother of no.5, with clinical suspicion of MLS. Additionally we report pathological findings of the mother of two brothers with MLS reported in our series with acanthocytes on peripheral blood smear The patients had an unremarkable family history and were asymptomatic until adulthood. Patients no. 1,2,4,5,6 developed generalized chorea and patient no. 3 had predominant bradykinesia. Patients no. 1,2,3 had phonic and motor tics, additionally patients no. 1 and 2 exhibited peculiar oromandibular dystonia with tongue thrusting. In patients no. 2 and 3 dystonic supination of feet was observed, patient no. 3 subsequently developed bilateral foot drop. Patients no. 2 and 4 had signs of muscle atrophy. Tendon reflexes were decreased or absent and electroneurography demonstrated sensorimotor neuropathy in patients no. 1,2,3,4,5, except no. 6. Generalized seizures were seen in patients no. 2,3,5,6 and myoclonic jerks in patient no. 1. Cognitive deterioration was reported in patients no. 1,2,3,5,6. Serum creatine kinase levels were elevated in all six patients. We highlight the variability of clinical presentation of neuroacanthocytosis syndromes and the long time from the onset to diagnosis with the need to screen the blood smears in uncertain cases, however, as in one of our cases acanthocytes may even be not found. Based on our observations and data from the literature we propose several red flags that should raise the suspicion of an NA syndrome in a patient with a movement disorder: severe orofacial dyskinesia with tongue and lip

  15. Attention in Parkinson’s Disease Mimicking Suggestion in Psychogenic Movement Disorder

    Directory of Open Access Journals (Sweden)

    Jong Sam Baik

    2012-10-01

    Full Text Available The various reported psychogenic movement disorders (PMDs include tremor, dystonia, myoclonus, gait disorder, Parkinsonism, tics, and chorea. Although it is not easy to diagnose PMDs, several features such as distractibility, entrainment, suggestion and placebo trial are quite helpful to diagnose. Especially, distractibility or suggestion is a good tool to do in outpatient clinic easily. We describe a patient with parkinsonian features which were improved by internal suggestion to focusing attention. Initially, we suspected her diagnosis as PMDs; however she was confirmed with organic Parkinson’s disease later.

  16. Speech–Language Pathology Evaluation and Management of Hyperkinetic Disorders Affecting Speech and Swallowing Function

    Science.gov (United States)

    Barkmeier-Kraemer, Julie M.; Clark, Heather M.

    2017-01-01

    Background Hyperkinetic dysarthria is characterized by abnormal involuntary movements affecting respiratory, phonatory, and articulatory structures impacting speech and deglutition. Speech–language pathologists (SLPs) play an important role in the evaluation and management of dysarthria and dysphagia. This review describes the standard clinical evaluation and treatment approaches by SLPs for addressing impaired speech and deglutition in specific hyperkinetic dysarthria populations. Methods A literature review was conducted using the data sources of PubMed, Cochrane Library, and Google Scholar. Search terms included 1) hyperkinetic dysarthria, essential voice tremor, voice tremor, vocal tremor, spasmodic dysphonia, spastic dysphonia, oromandibular dystonia, Meige syndrome, orofacial, cervical dystonia, dystonia, dyskinesia, chorea, Huntington’s Disease, myoclonus; and evaluation/treatment terms: 2) Speech–Language Pathology, Speech Pathology, Evaluation, Assessment, Dysphagia, Swallowing, Treatment, Management, and diagnosis. Results The standard SLP clinical speech and swallowing evaluation of chorea/Huntington’s disease, myoclonus, focal and segmental dystonia, and essential vocal tremor typically includes 1) case history; 2) examination of the tone, symmetry, and sensorimotor function of the speech structures during non-speech, speech and swallowing relevant activities (i.e., cranial nerve assessment); 3) evaluation of speech characteristics; and 4) patient self-report of the impact of their disorder on activities of daily living. SLP management of individuals with hyperkinetic dysarthria includes behavioral and compensatory strategies for addressing compromised speech and intelligibility. Swallowing disorders are managed based on individual symptoms and the underlying pathophysiology determined during evaluation. Discussion SLPs play an important role in contributing to the differential diagnosis and management of impaired speech and deglutition

  17. Drosophila Vps13 Is Required for Protein Homeostasis in the Brain.

    Directory of Open Access Journals (Sweden)

    Jan J Vonk

    Full Text Available Chorea-Acanthocytosis is a rare, neurodegenerative disorder characterized by progressive loss of locomotor and cognitive function. It is caused by loss of function mutations in the Vacuolar Protein Sorting 13A (VPS13A gene, which is conserved from yeast to human. The consequences of VPS13A dysfunction in the nervous system are still largely unspecified. In order to study the consequences of VPS13A protein dysfunction in the ageing central nervous system we characterized a Drosophila melanogaster Vps13 mutant line. The Drosophila Vps13 gene encoded a protein of similar size as human VPS13A. Our data suggest that Vps13 is a peripheral membrane protein located to endosomal membranes and enriched in the fly head. Vps13 mutant flies showed a shortened life span and age associated neurodegeneration. Vps13 mutant flies were sensitive to proteotoxic stress and accumulated ubiquitylated proteins. Levels of Ref(2P, the Drosophila orthologue of p62, were increased and protein aggregates accumulated in the central nervous system. Overexpression of the human Vps13A protein in the mutant flies partly rescued apparent phenotypes. This suggests a functional conservation of human VPS13A and Drosophila Vps13. Our results demonstrate that Vps13 is essential to maintain protein homeostasis in the larval and adult Drosophila brain. Drosophila Vps13 mutants are suitable to investigate the function of Vps13 in the brain, to identify genetic enhancers and suppressors and to screen for potential therapeutic targets for Chorea-Acanthocytosis.

  18. Unilateral Thalamic Infarct Presenting as a Convulsive Seizure.

    Science.gov (United States)

    Kumar, Rajesh; Brohi, Hazim; Mughul, Afshan

    2017-09-01

    Lesions of the thalamus and those extending into midbrain can cause various types of movement disorders such as dystonia, asterixis and ballism-chorea. Seizures are rare manifestation of thalamic disorder. Occurrence of seizures in bilateral thalamic infarct has been reported; but seizures in unilateral thalamic infarct have been reported very rarely. Literature review showed only single case of perinatal unilateral thalamic infarct presenting with seizures. We are reporting a unique case of convulsive seizure at the onset of unilateral thalamic infarct in an adult male, which has never been reported to the best of our knowledge.

  19. Transtorno obsessivo-compulsivo: aspectos neuroimunológicos

    Directory of Open Access Journals (Sweden)

    Mercadante Marcos T

    2001-01-01

    Full Text Available This article discusses issues related to the hypotheses regarding the existence of immune mechanisms underlying the pathophysiology of a subgroup of patients with obsessive-compulsive disorder and/or Tourette's syndrome. Though developed from the studies on Sydenham's chorea, other concepts about the immune system regulation hypotheses still need further investigation. The proposition of PANDAS, the pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection, combined with the results obtained with plasma exchange procedure, which showed a remarkable improvement of the symptoms in children with obsessive-compulsive disorder and/or Tourette's syndrome, have given additional support to this model.

  20. Speech–Language Pathology Evaluation and Management of Hyperkinetic Disorders Affecting Speech and Swallowing Function

    Directory of Open Access Journals (Sweden)

    Julie M. Barkmeier-Kraemer

    2017-09-01

    Full Text Available Background: Hyperkinetic dysarthria is characterized by abnormal involuntary movements affecting respiratory, phonatory, and articulatory structures impacting speech and deglutition. Speech–language pathologists (SLPs play an important role in the evaluation and management of dysarthria and dysphagia. This review describes the standard clinical evaluation and treatment approaches by SLPs for addressing impaired speech and deglutition in specific hyperkinetic dysarthria populations.Methods: A literature review was conducted using the data sources of PubMed, Cochrane Library, and Google Scholar. Search terms included 1 hyperkinetic dysarthria, essential voice tremor, voice tremor, vocal tremor, spasmodic dysphonia, spastic dysphonia, oromandibular dystonia, Meige syndrome, orofacial, cervical dystonia, dystonia, dyskinesia, chorea, Huntington’s Disease, myoclonus; and evaluation/treatment terms: 2 Speech–Language Pathology, Speech Pathology, Evaluation, Assessment, Dysphagia, Swallowing, Treatment, Management, and diagnosis.Results: The standard SLP clinical speech and swallowing evaluation of chorea/Huntington’s disease, myoclonus, focal and segmental dystonia, and essential vocal tremor typically includes 1 case history; 2 examination of the tone, symmetry, and sensorimotor function of the speech structures during non-speech, speech and swallowing relevant activities (i.e., cranial nerve assessment; 3 evaluation of speech characteristics; and 4 patient self-report of the impact of their disorder on activities of daily living. SLP management of individuals with hyperkinetic dysarthria includes behavioral and compensatory strategies for addressing compromised speech and intelligibility. Swallowing disorders are managed based on individual symptoms and the underlying pathophysiology determined during evaluation.Discussion: SLPs play an important role in contributing to the differential diagnosis and management of impaired speech and

  1. Psychogenic Balance Disorders: Is It a New Entity of Psychogenic Movement Disorders?

    Directory of Open Access Journals (Sweden)

    Jong Sam Baik

    2012-05-01

    Full Text Available The various reported psychogenic dyskinesias include tremor, dystonia, myoclonus, gait disorder, Parkinsonism, tics, and chorea. It is not easy to diagnose psychogenic movement disorders, especially in patients with underlying organic disease. We describe three patients with balance and/or posture abnormalities that occur when they stand up, start to move, or halt from walking, although their gaits are normal. One had an underlying unilateral frontal lobe lesion. All patients improved dramatically after receiving a placebo-injection or medication. These abnormal features differ from the previously reported features of astasia without abasia and of psychogenic gait disorders, including recumbent gait. We describe and discuss the patients’ unique clinical characteristics.

  2. Clinical neurogenetics: huntington disease.

    Science.gov (United States)

    Bordelon, Yvette M

    2013-11-01

    Huntington disease (HD) is an autosomal dominant, adult-onset, progressive neurodegenerative disease characterized by the triad of abnormal movements (typically chorea), cognitive impairment, and psychiatric problems. It is caused by an expanded CAG repeat in the gene encoding the protein huntingtin on chromosome 4 and causes progressive atrophy of the striatum as well as cortical and other extrastriatal structures. Genetic testing has been available since 1993 to confirm diagnosis in affected adults and for presymptomatic testing in at-risk individuals. This review covers HD signs, symptoms, and pathophysiology; current genetic testing issues; and current and future treatment strategies. Copyright © 2013 Elsevier Inc. All rights reserved.

  3. Neuronal Ceroid-lipofuscinosis with prominent chorea and without visual manifestations: a case report

    Directory of Open Access Journals (Sweden)

    Luciano de Souza Queiroz

    1979-03-01

    Full Text Available A case of neuronal ceroid-lipofuscinosis (NCL is reported in a 11-year-old girl, whose main symptoms were progressive dementia since the age of 4 years and choreic movements since age 10. Seizures, myoclonus and visual deterioration were absent and optic fundi were normal. A cerebral biopsy disclosed two basic types of stored substance in the cytoplasm of neurons: a severely balloned nerve cells in cortical layers HI and V contained a non-autofluorescent material, which stained with PAS and Sudan Black B in frozen, but not in paraffin sections; ultrastructurally, these neurons showed abundant corpuscles similar to the membranous cytoplasmic bodies of Tay-Sachs disease and, in smaller amounts, also zebra bodies; b slightly distended or non-distended neurons in all layers contained lipopigment granules, which were autofluorescent, PAS-positive and sudanophil in both frozen and paraffin sections; their ultrastructure was closely comparable to that of lipofuscin. Similar bodies were found in the swollen segments of axons and in a few astrocytes and endothelial cells. The histochemical and ultrastructural demonstration of large amounts of lipopigments allows a presumptive classification of the case as NCL. However, the presence of involuntary movements, the absence of visual disturbances and the unusual ultrastructural features place the patient into a small heterogeneous group within the NCL. A better classification of such unique instances of the disease must await elucidation of the basic enzymatic defects.

  4. Positron research in neuropsychiatric disorders

    International Nuclear Information System (INIS)

    Namura, Ikuro; Inoue, Osamu; Yamasaki, Toshiro.

    1984-01-01

    The principal findings revealed by our 18 F-fluoro-2-deoxyglucose ( 18 FDG) and 15 O-oxygen study were reviewed in the former part of this paper. (1) The effect of surgical severing of fiber connections on the terminal gray matter was clearly demonstrated in the following examples. A patient with the injured left optic radiation showed a markedly decreased 18 FDG uptake in the ipsilateral primary visual cortex. The extent of the decrease was larger in the secondary visual cortex (--60%). The patient with bilateral frontal leukotomy (lobotomy) showed about 30% decrease of oxygen accumulation not only in the frontal cortex but in the anterior half of the temporal cortex. (2) The effect of electrical stimulation of the left median nerve can be detected as an increased 18 FDG accumulation in the corresponding sensory and motor areas in the right precentral and postcentral cortices. The slight to moderate increase in the right striatal region was though to be related to the muscle movement caused by the stimulation. (3) The neuro-degenerative disorders such as Huntington's chorea and Parkinsonism could be diagnosed by demonstrating the decrease of 18 FDG in the degenerating focus or the increase in the secondarily affected area. An example was provided by a case of Huntington's chorea patient who showed a markedly decreased 18 FDG uptake in the striatal region in spite that 13 N-ammonia visualized this area. (4) Dementia gives another field where the 18 FDG and 15 O 2 studies are demonstrated to be quite useful. (5) The 18 FDG studies on the intrinsic psychoses are also reviewed. But consistent results seemed to be very difficult in this area by using labeled sugars and oxygens which are nonspecific gray matter imagers. Therefore, new tracers and new techniques in positron emission tomography are briefly described in the latter part of this paper. (author)

  5. Late-onset Huntington's disease: diagnostic and prognostic considerations.

    Science.gov (United States)

    Koutsis, Georgios; Karadima, Georgia; Kladi, Athina; Panas, Marios

    2014-07-01

    To address diagnostic and prognostic issues in patients with late-onset Huntington's disease (HD). We analyzed a cohort of 41 late-onset (≥60 years) HD patients and compared them to 39 late-onset patients referred for HD testing that were negative for the HD-expansion and to 290 usual-onset (20-59 years) HD patients. Disease severity was assessed by the Total Functional Capacity Scale. Late-onset HD comprised 11.5% of our HD cohort. In total, 70.7% of late-onset HD patients had positive family history compared to 15.4% of late-onset expansion-negative patients (p < 0.001). Clinical features at onset or presentation could not usefully distinguish between late-onset expansion-positive and negative patients, excepting hemichorea, which was absent from the HD group (p = 0.024). Chorea was the first clinical feature in 53.7% and a presenting feature in 90.2% of late-onset HD. The mutation hit rate for late-onset patients was 51.3%, lower than in usual-onset patients (p = 0.04). Frequencies of chorea, cognitive impairment and psychiatric manifestations at onset or presentation were not significantly different between late-onset and usual-onset HD patients. Gait unsteadiness however was more common at presentation in late-onset HD (p = 0.007). Late-onset HD patients reached a severe stage of illness on average 2.8 years earlier than usual-onset HD patients (p = 0.046). A positive family history suggestive of HD, although absent in a third of patients, remains a helpful clue in diagnosing late-onset HD. Prognosis of late-onset HD in terms of Total Functional Capacity appears no better and shows a trend of being somewhat less favorable compared to usual-onset HD. Copyright © 2014 Elsevier Ltd. All rights reserved.

  6. Metabolic changes in the brain

    International Nuclear Information System (INIS)

    Meermann, H.

    1982-01-01

    A positron emission tomograph (PET) is described for displaying the flow pattern of radioactive isotope-labelled substances injected into the human brain. This is claimed to assist in diagnosis of circulation disturbances and to show sugar and oxygen uptake. Emitted gamma rays are detected by rings of 96 detectors whose outputs are used to produce a computer-generated reproduction of the brain, with different colours or densities on a cathode ray tube representing concentration of the labelled substance. Epileptic spasms, Huntington's chorea and drug uptake, as well as albumen content variations due to tumours, are stated to be capable of display. Future uses of the ''PET'' tomograph are discussed. (G.M.E.)

  7. Clinical manifestations of intermediate allele carriers in Huntington disease

    DEFF Research Database (Denmark)

    Cubo, Esther; Ramos-Arroyo, María A; Martinez-Horta, Saul

    2016-01-01

    a cohort of participants at risk with cognitive, and behavior domains, Total Functional Capacity (TFC), and quality of life (Short Form-36 [SF-36]). This cohort was subdivided...... into IA carriers (27-35 CAG) and controls (older participants. IA carriers and controls were compared for sociodemographic, environmental, and outcome measures. We used regression analysis to estimate the association of age and CAG repeats on the UHDRS scores. RESULTS: Of 12....... However, older participants with IAs had higher chorea scores compared to controls (p = 0.001). Linear regression analysis showed that aging was the most contributing factor to increased UHDRS motor scores (p = 0.002). On the other hand, 1-year follow-up data analysis showed IA carriers had greater...

  8. Genetic disorders of thyroid metabolism and brain development

    Science.gov (United States)

    Kurian, Manju A; Jungbluth, Heinz

    2014-01-01

    Normal thyroid metabolism is essential for human development, including the formation and functioning of the central and peripheral nervous system. Disorders of thyroid metabolism are increasingly recognized within the spectrum of paediatric neurological disorders. Both hypothyroid and hyperthyroid disease states (resulting from genetic and acquired aetiologies) can lead to characteristic neurological syndromes, with cognitive delay, extrapyramidal movement disorders, neuropsychiatric symptoms, and neuromuscular manifestations. In this review, the neurological manifestations of genetic disorders of thyroid metabolism are outlined, with particular focus on Allan-Herndon-Dudley syndrome and benign hereditary chorea. We report in detail the clinical features, major neurological and neuropsychiatric manifestations, molecular genetic findings, disease mechanisms, and therapeutic strategies for these emerging genetic ‘brain-thyroid’ disorders. PMID:24665922

  9. Clinical features of movement disorders.

    Science.gov (United States)

    Yung, C Y

    1983-08-01

    The descriptive aspects of all types of movement disorders and their related syndromes and terminologies used in the literature are reviewed and described. This comprises the features of (a) movement disorders secondary to neurological diseases affecting the extrapyramidal motor system, such as: athetosis, chorea, dystonia, hemiballismus, myoclonus, tremor, tics and spasm, (b) drug induced movement disorders, such as: akathisia, akinesia, hyperkinesia, dyskinesias, extrapyramidal syndrome, and tardive dyskinesia, and (c) abnormal movements in psychiatric disorders, such as: mannerism, stereotyped behaviour and psychomotor retardation. It is intended to bring about a more comprehensive overview of these movement disorders from a phenomenological perspective, so that clinicians can familiarize with these features for diagnosis. Some general statements are made in regard to some of the characteristics of movement disorders.

  10. New onset of idiopathic bilateral ear tics in an adult.

    Science.gov (United States)

    Agrawal, Amit; Shrestha, Rabin

    2009-04-01

    Tic disorders are commonly considered to be childhood syndromes. Newly presenting tic disorders during adulthood are uncommon and mostly described in relation to an acquired brain lesion or as incidental tics, particularly in context with other neurological or psychiatric diseases. Tic disorder involving the ears is extremely uncommon with only few studies in English literature. In the present case, we describe an adult patient with new-onset idiopathic tics disorder involving both ears, causing social embarrassment. In addition, our patient had recent onset of the tics without any childhood or family history of tic disorders. The single most important component of management is an accurate diagnosis. At the same time, tics should be differentiated from other movement disorders such as chorea, stereotypy, and dystonias.

  11. Whose name is it anyway? Varying patterns of possessive usage in eponymous neurodegenerative diseases

    Directory of Open Access Journals (Sweden)

    Michael R. MacAskill

    2013-04-01

    Full Text Available There has been long-standing debate over whether use of the possessive form of the names of eponymous neurological disorders should be abandoned. Which view has actually predominated in practice? We empirically assessed current and historical usage in the scientific literature. The PubMed database was queried for the percentage of titles published each year from 1960–2012 which contained the possessive form of Parkinson’s (PD, Alzheimer’s (AD, Huntington’s (HD, Wilson’s (WD, and Gaucher’s (GD diseases (e.g. Huntington’s disease or chorea vs Huntington disease or chorea. Down syndrome (DS, well known for its changes in terminology, was used as a reference. The possessive form was nearly universal in all conditions from 1960 until the early 1970s. In both DS and GD it then declined at an approximately constant rate of 2 percentage points per year to drop below 15%. The possessive forms of both PD and AD began to decline at the same time but stabilised and have since remained above 80%, with a similar but more volatile pattern in HD. WD, meanwhile, is intermediate between the DS/GD and PD/AD/HD patterns, with a slower decline to its current value of approximately 60%. Declining possessive form usage in GD and DS papers has been remarkably uniform over time and has nearly reached completion. PD and AD appear stable in remaining predominantly possessive. The larger volume of papers published in those fields and their possibly greater public recognition and involvement may make that unlikely to change in the short-term. In a secondary analysis restricted to PD, we found that practices have switched dramatically several times in each of three US-published general neurology journals. Meanwhile, in two UK-published journals, and in the specialist title “Movement Disorders”, the possessive form has been maintained consistently. The use of eponyms in neurology shows systematic variation across time, disorders, and journals.

  12. Fantasmata: Astanza of the Dance

    Directory of Open Access Journals (Sweden)

    Elisa Anzellotti

    2016-12-01

    Full Text Available The word fantasmata, used by Domenico di Piacenza in De arte et saltandi choreas ducendi, has been investigated by many scholars and raised many debates. We could summarize the concept of fantasmata in that moment of suspension, full of energy and emotion, between movement and stasis, between the power and the act, which has many references to classical culture. Another word extremely complex is created by Cesare Brandi to describe an aesthetic phase of the perception of the work of art: the astanza. When the art is manifested to consciousness, condenses it into an image, it create a suspension of existence. Investigating the different meanings and connotations of the concepts of fantasmata and astanza, there are three issues that return strongly: image (with deep connections to the memory, time and space.

  13. Application of iodine-123-labeled isopropylamphetamine imaging to the study of dementia

    International Nuclear Information System (INIS)

    Sharp, P.; Gemmell, H.; Cherryman, G.; Besson, J.; Crawford, J.; Smith, F.

    1986-01-01

    Forty-seven patients diagnosed as clinically demented were imaged with 123I isopropylamphetamine (IMP). All of these patients also had a nuclear magnetic resonance (NMR) study. In those patients diagnosed as having senile dementia of the Alzheimer type a bilateral reduction in IMP uptake in the temporo-parieto-occipital region was always seen. The NMR appearances were normal in 64% of these sites. The IMP images of patients with multi-infarct dementia varied from normal to marked focal deficits. There was, however, a much closer agreement between the abnormalities seen on the IMP and NMR images. In alcoholic dementia no focal areas of reduced IMP uptake were seen, although the uptake was generally irregular. In both Korsakoff's psychosis and Huntington's chorea the IMP uptake pattern and the NMR study were normal

  14. Rapid eye movement sleep disturbances in Huntington disease

    DEFF Research Database (Denmark)

    Arnulf, I.; Nielsen, J.; Lohmann, E.

    2008-01-01

    and shortened rapid eye movement (REM) sleep, and increased periodic leg movements. Three HD patients (12%) had REM sleep behavior disorders. No sleep abnormality correlated with CAG repeat length. Reduced REM sleep duration (but not REM sleep behavior disorders) was present in premanifest carriers and patients...... with very mild HD and worsened with disease severity. In contrast to narcoleptic patients, HD patients had no cataplexy, hypnagogic hallucinations, or sleep paralysis. Four HD patients had abnormally low (sleep latencies, but none had multiple sleep-onset REM periods. Conclusions......: The sleep phenotype of HD includes insomnia, advanced sleep phase, periodic leg movements, REM sleep behavior disorders, and reduced REM sleep but not narcolepsy. Reduced REM sleep may precede chorea. Mutant huntingtin may exert an effect on REM sleep and motor control during sleep Udgivelsesdato: 2008/4...

  15. Hemichorea-hemiballismus associated with hyperglycemia: A case report

    International Nuclear Information System (INIS)

    Heo, Young Jin; Jeong, Hae Woong

    2017-01-01

    Hemichorea-hemiballism (HCHB) associated with nonketotic hyperglycemia is the most common cause of unilateral chorea in patients with type 2 diabetes mellitus. T1-weighted MRI characteristically demonstrates hyperintensity in the contralateral corpus striatum. Here we describe a case of HCHB associated with nonketotic hyperglycemia and unusual brain involvement. A 51-year-old man presented with involuntary limb movements for several months. He had a history of diabetes mellitus and poorly controlled hyperglycemia. MRI demonstrated characteristic striatal hyperintensity, with involvement of the temporal lobe and midbrain. The patient's hyperglycemia was controlled with medication. However, his involuntary movements were reduced in terms of severity, but not eliminated, by the time of discharge. HCHB associated with hyperglycemia usually resolves rapidly after correction of blood glucose levels; thus, early recognition and glycemic control are needed to prevent an irreversible outcome

  16. CT and MRI findings in patients with hyperglycemic encephalopathy : three cases report

    International Nuclear Information System (INIS)

    Chung, Sun Hee; Choi, Hye Young

    2000-01-01

    We describe the distinctive brain CT and MRI findings seen in the putamen of three patients with hyperglycemia. The chief complaint of these patients was either chorea (n=3D1) or mental change (n=3D2). They showed hyperglycemia, but physical examination and laboratory data revealed no other abnormalities. In all patients, non-enhanced CT scanning revealed high-attenuated lesions in the unilateral putamen. In two of the three patients, brain MRI performed two days after the onset of symptoms showed an abnormally high signal on T1-weighted images and a low signal on T2-weighted images. One patient had a history of diabetes mellitus, and another had acute myocardiac infarction. The third had no specific history. After the correction of hyperglycemia, the patient's symptoms subsided and diabetes mellitus was diagnosed. (author)

  17. CT and MRI findings in patients with hyperglycemic encephalopathy : three cases report

    Energy Technology Data Exchange (ETDEWEB)

    Chung, Sun Hee; Choi, Hye Young [College of Medicine, Ewha Womans Unviersity, Seoul (Korea, Republic of)

    2000-03-01

    We describe the distinctive brain CT and MRI findings seen in the putamen of three patients with hyperglycemia. The chief complaint of these patients was either chorea (n=3D1) or mental change (n=3D2). They showed hyperglycemia, but physical examination and laboratory data revealed no other abnormalities. In all patients, non-enhanced CT scanning revealed high-attenuated lesions in the unilateral putamen. In two of the three patients, brain MRI performed two days after the onset of symptoms showed an abnormally high signal on T1-weighted images and a low signal on T2-weighted images. One patient had a history of diabetes mellitus, and another had acute myocardiac infarction. The third had no specific history. After the correction of hyperglycemia, the patient's symptoms subsided and diabetes mellitus was diagnosed. (author)

  18. Hemichorea-hemiballismus associated with hyperglycemia: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Heo, Young Jin; Jeong, Hae Woong [Dept.of Radiology, Busan Paik Hospital, Inje University, Busan (Korea, Republic of)

    2017-04-15

    Hemichorea-hemiballism (HCHB) associated with nonketotic hyperglycemia is the most common cause of unilateral chorea in patients with type 2 diabetes mellitus. T1-weighted MRI characteristically demonstrates hyperintensity in the contralateral corpus striatum. Here we describe a case of HCHB associated with nonketotic hyperglycemia and unusual brain involvement. A 51-year-old man presented with involuntary limb movements for several months. He had a history of diabetes mellitus and poorly controlled hyperglycemia. MRI demonstrated characteristic striatal hyperintensity, with involvement of the temporal lobe and midbrain. The patient's hyperglycemia was controlled with medication. However, his involuntary movements were reduced in terms of severity, but not eliminated, by the time of discharge. HCHB associated with hyperglycemia usually resolves rapidly after correction of blood glucose levels; thus, early recognition and glycemic control are needed to prevent an irreversible outcome.

  19. Did the "Woman in the Attic" in Jane Eyre Have Huntington Disease?

    Science.gov (United States)

    Coon, Elizabeth A; Hassan, Anhar

    2015-01-01

    References to neurologic disorders are frequently found in fictional literature and may precede description in the medical literature. Our aim was to compare Charlotte Brontë's depiction of Bertha Mason in Jane Eyre to the tenets set forth in George Huntington's original essay "On chorea" with the hypothesis that Mason was displaying features of Huntington disease. Charlotte Brontë's 1847 Victorian novel Jane Eyre features the character Bertha Mason, who is portrayed with a progressive psychiatric illness, violent movements, and possible cognitive decline. Similar to Huntington's tenets, Mason has a disorder with a strong family history suggestive of autosomal dominant inheritance with onset in adulthood, and culminating in suicide. Brontë's character had features of Huntington disease as originally described by Huntington. Brontë's keen characterization may have increased awareness of treatment of neuropsychiatric patients in the Victorian era.

  20. CNS autoimmune disease after Streptococcus pyogenes infections: animal models, cellular mechanisms and genetic factors

    Science.gov (United States)

    Cutforth, Tyler; DeMille, Mellissa MC; Agalliu, Ilir; Agalliu, Dritan

    2016-01-01

    Streptococcus pyogenes infections have been associated with two autoimmune diseases of the CNS: Sydenham’s chorea (SC) and Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus infections (PANDAS). Despite the high frequency of pharyngeal streptococcus infections among children, only a small fraction develops SC or PANDAS. This suggests that several factors in combination are necessary to trigger autoimmune complications: specific S. pyogenes strains that induce a strong immune response toward the host nervous system; genetic susceptibility that predispose children toward an autoimmune response involving movement or tic symptoms; and multiple infections of the throat or tonsils that lead to a robust Th17 cellular and humoral immune response when untreated. In this review, we summarize the evidence for each factor and propose that all must be met for the requisite neurovascular pathology and behavioral deficits found in SC/PANDAS. PMID:27110222

  1. [Neurologic manifestations associated with antiphospholipid antibodies. Or what remains of neurolupus?].

    Science.gov (United States)

    Hachulla, E; Leys, D; Deleume, J F; Pruvo, J P; Devulder, B

    1995-01-01

    Antiphospholipid antibody is associated with a clinical syndrome of vascular thrombosis, thrombocytopenia, recurrent fetal loss and livedo reticularis, whether or not a clinical diagnosis of systemic lupus erythematosus (SLE) coexists. Central nervous system involvement in SLE is multifactorial, thrombotic events, antineuronal antibodies, hypertension, infection, side effects of drugs etc. Antiphospholipid antibodies may play a role in focal neurological manifestations in SLE. In the absence of SLE, different neurological symptoms are well associated with antiphospholipid antibodies including stroke, seizures, dementia, migraine, ocular ischemia, chorea, transverse myelopathy, cerebral phlebitis. Other association are more controversal like Guillain Barré syndrome, motor neuron disease, communicating hydrocephalus. In all patients with antiphospholipid antibodies with neurological involvement, cerebral MRI may be performed with an echocardiographic study because a possible association with Libman and Sacks endocarditis, valve dysfunction or cardiac thrombus source of cerebral ischemia.

  2. A case of atypical adult-onset tic disorder.

    Science.gov (United States)

    Colosimo, Carlo

    2015-04-01

    The differential diagnosis of adult tic disorder is complex, and several common and uncommon causes have to be taken into consideration. A 30-year-old man came to our movement disorders clinic with multiple tics which had begun insidiously about 10 years earlier. No family history was reported, but his 65-year-old otherwise healthy father also had very subtle involuntary movements. A diagnosis of atypical Gilles de la Tourette syndrome was made. However, the neurological and psychiatric symptoms of the patient rapidly progressed over the following 2 years, resulting in increasingly severe involuntary movements and profound mood disorder. Further diagnostic tests were performed, and a genetic screening for Huntington disease revealed 45 repeats of the CAG nucleotide in the IT-15 gene. This case underlines the marked phenotypic variability of Huntington disease at presentation, including the presence of involuntary movements different from chorea and possibility of an apparently sporadic disorder.

  3. Glucose transportation in the brain and its impairment in Huntington disease: one more shade of the energetic metabolism failure?

    Science.gov (United States)

    Morea, Veronica; Bidollari, Eris; Colotti, Gianni; Fiorillo, Annarita; Rosati, Jessica; De Filippis, Lidia; Squitieri, Ferdinando; Ilari, Andrea

    2017-07-01

    Huntington's disease (HD) or Huntington's chorea is the most common inherited, dominantly transmitted, neurodegenerative disorder. It is caused by increased CAG repeats number in the gene coding for huntingtin (Htt) and characterized by motor, behaviour and psychiatric symptoms, ultimately leading to death. HD patients also exhibit alterations in glucose and energetic metabolism, which result in pronounced weight loss despite sustained calorie intake. Glucose metabolism decreases in the striatum of all the subjects with mutated Htt, but affects symptom presentation only when it drops below a specific threshold. Recent evidence points at defects in glucose uptake by the brain, and especially by neurons, as a relevant component of central glucose hypometabolism in HD patients. Here we review the main features of glucose metabolism and transport in the brain in physiological conditions and how these processes are impaired in HD, and discuss the potential ability of strategies aimed at increasing intracellular energy levels to counteract neurological and motor degeneration in HD patients.

  4. Central nervous system lupus erythematosus in childhood

    Energy Technology Data Exchange (ETDEWEB)

    Yokota, Shumpei; Kimura, Kazue; Yoshida, Naotaka; Mitsuda, Toshihiro; Ibe, Masa-aki; Shimizu, Hiroko (Yokohama City Univ. (Japan). Faculty of Medicine)

    1989-12-01

    Clinical features of central nervous system (CNS) invlvement in childhood systemic lupus erythematosus (SLE) was investigated. Neuropsychiatric manifestations including seizures, chorea, headache, overt psychosis, tremor, increase of muscle spastisity, and disturbed memory were found in 47% of 15 patients with SLE. There was a well correlatin between CNS abnormalities and SLE disease activity judged by serum complement levels and anti-nuclear antibody and anti-DNA antibody titers. The administration of Prednisolon was effective for the treatment of these CNS abnormalities and steroid psychosis was rare in the present study. EEG abnormalities involving diffuse slowing and slowing bursts were found in 73% of the patients. Cranial CT scan revealed basel ganglia calcifications in 2 patients, and marked brain atrophy in 3 patients. This study indicated that in the long term following of SLE children CNS abnormalities need to be serially checked by EEG and cranial CT scans as well as serological investigations. (author).

  5. Principles and approaches to the treatment of immune-mediated movement disorders.

    Science.gov (United States)

    Mohammad, Shekeeb S; Dale, Russell C

    2018-03-01

    Immune mediated movement disorders include movement disorders in the context of autoimmune encephalitis such as anti-NMDAR encephalitis, post-infectious autoimmune movement disorders such as Sydenham chorea, paraneoplastic autoimmune movement disorders such as opsoclonus myoclonus ataxia syndrome, and infection triggered conditions such as paediatric acute neuropsychiatric syndrome. This review focuses on the approach to treatment of immune mediated movement disorders, which requires an understanding of the immunopathogenesis, whether the disease is destructive or 'altering', and the natural history of disease. Factors that can influence outcome include the severity of disease, the delay before starting therapy, use of multimodal therapy and whether the course is monophasic or relapsing. Although the four main conditions listed above have different pathophysiological processes, there are general themes that broadly apply including: early diagnosis and treatment is better, minimise the severity of disease, escalate treatment if the patient is not responding to initial treatments, and minimise relapse. Copyright © 2017. Published by Elsevier Ltd.

  6. Hand activities in infantile masturbation: a video analysis of 13 cases.

    Science.gov (United States)

    Hansen, Jonas Kjeldbjerg; Balslev, Thomas

    2009-11-01

    Infantile masturbation is considered a variant of normal behaviour. The abrupt and spontaneous onset, altered sensorium and autonomic phenomena during episodes may suggest an epileptic fit. Therefore, children with infantile masturbation are often admitted to hospital and undergo unnecessary tests. The purpose of the present study was to provide a detailed description of hand activities in infantile masturbation. The authors reviewed video recordings of 2 boys and 11 girls with infantile masturbation. Position, movements and activities of hands and fingers during episodes were registered. Five patterns of hand activities were registered: Fisting (four infants), grasping of toys, furniture or clothing (ten infants), chorea-like "piano playing" hand movements (two infants), pressure over the diaper/genital region (one infant) and bimanual manipulation of items (four infants). Fisting was primarily observed in the younger infants, and bimanual manipulation was primarily seen in the older infants. Recognizing one or more of the five distinct patterns of hand activities in infantile masturbation may help establishing the diagnosis.

  7. Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

    Science.gov (United States)

    McMahon, Kelly Q; Papandreou, Apostolos; Ma, Mandy; Barry, Brenda J; Mirzaa, Ghayda M; Dobyns, William B; Scott, Richard H; Trump, Natalie; Kurian, Manju A; Paciorkowski, Alex R

    2015-12-01

    FOXG1-related disorders are caused by heterozygous mutations in FOXG1 and result in a spectrum of neurodevelopmental phenotypes including postnatal microcephaly, intellectual disability with absent speech, epilepsy, chorea, and corpus callosum abnormalities. The recurrence risk for de novo mutations in FOXG1-related disorders is assumed to be low. Here, we describe three unrelated sets of full siblings with mutations in FOXG1 (c.515_577del63, c.460dupG, and c.572T > G), representing familial recurrence of the disorder. In one family, we have documented maternal somatic mosaicism for the FOXG1 mutation, and all of the families presumably represent parental gonadal (or germline) mosaicism. To our knowledge, mosaicism has not been previously reported in FOXG1-related disorders. Therefore, this report provides evidence that germline mosaicism for FOXG1 mutations is a likely explanation for familial recurrence and should be considered during recurrence risk counseling for families of children with FOXG1-related disorders. © 2015 Wiley Periodicals, Inc.

  8. Central nervous system lupus erythematosus in childhood

    International Nuclear Information System (INIS)

    Yokota, Shumpei; Kimura, Kazue; Yoshida, Naotaka; Mitsuda, Toshihiro; Ibe, Masa-aki; Shimizu, Hiroko

    1989-01-01

    Clinical features of central nervous system (CNS) invlvement in childhood systemic lupus erythematosus (SLE) was investigated. Neuropsychiatric manifestations including seizures, chorea, headache, overt psychosis, tremor, increase of muscle spastisity, and disturbed memory were found in 47% of 15 patients with SLE. There was a well correlatin between CNS abnormalities and SLE disease activity judged by serum complement levels and anti-nuclear antibody and anti-DNA antibody titers. The administration of Prednisolon was effective for the treatment of these CNS abnormalities and steroid psychosis was rare in the present study. EEG abnormalities involving diffuse slowing and slowing bursts were found in 73% of the patients. Cranial CT scan revealed basel ganglia calcifications in 2 patients, and marked brain atrophy in 3 patients. This study indicated that in the long term following of SLE children CNS abnormalities need to be serially checked by EEG and cranial CT scans as well as serological investigations. (author)

  9. Tics as an initial manifestation of juvenile Huntington's disease: case report and literature review.

    Science.gov (United States)

    Cui, Shi-Shuang; Ren, Ru-Jing; Wang, Ying; Wang, Gang; Chen, Sheng-Di

    2017-08-08

    Huntington's disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical. A 17-year-old boy with initial presentation of tics attended our clinic and his DNA analysis demonstrated mutation in the HTT gene (49 CAG repeats). After treatment, his symptoms improved. Furthermore, we performed literature review through searching the databases and summarized clinical features in 33 JHD patients. The most prevalent symptoms are ataxia, and two cases reported that tics as initial and prominent manifestation in JHD. Among them, 88% patients carried CAG repeats beyond 60 and most of them have family history. This case here illustrates the variable range of clinical symptoms of JHD and the necessity of testing for the HD mutation in young patients with tics with symptoms unable to be explained by Tourette's syndrome (TS).

  10. Functional MRT in psychiatry and neurology. 2. rev. and upd. ed.; Funktionelle MRT in Psychiatrie und Neurologie

    Energy Technology Data Exchange (ETDEWEB)

    Schneider, Frank [Universitaetsklinikum Aachen (Germany); Fink, Gereon R. (eds.) [Forschungszentrum Juelich GmbH (Germany); Uniklinik Koeln (Germany)

    2013-08-01

    The book on functional MRT in psychiatry and neurology covers the following topics: (I) Fundamentals: functional neuro-anatomy, fundamentals of NMR imaging, basic research on the clinical use for diagnostics and therapy; basics of morphometry; real-time fMRT, planning and execution of experimental paradigms; data analysis and statistics; reliability and quality of fMRT experiments; eye movement, neuropharmacologic functional imaging, gender dependent effects, age dependent effects, resting state fMRT; meta analyses. (II) Higher brain achievements: movement and action, perception and attention, visual system and object processing, auditory system, executive functions, somatosensoric system, memory, learning and gratification system, functional neuro-anatomy of speech, number processing and calculation, connectivity, social cognition, emotions, olfactory system, functional imaging in the pain research. (III) Disease pattern: dystonia, Parkinson syndrome, Chorea Huntington, aphasia, apraxia, neglect, amnesia, function recovery following apoplexy, schizophrenia, affective disturbances, anxiety and fear, post-traumatic disturbances, hyperactivity syndrome, personality disorder. (IV) Working tools: brain atlas, tool for integrated analyses of structure, functionality and connectivity (SPM anatomy toolbox).

  11. Functional MRT in psychiatry and neurology. 2. rev. and upd. ed.

    International Nuclear Information System (INIS)

    Schneider, Frank; Fink, Gereon R.

    2013-01-01

    The book on functional MRT in psychiatry and neurology covers the following topics: (I) Fundamentals: functional neuro-anatomy, fundamentals of NMR imaging, basic research on the clinical use for diagnostics and therapy; basics of morphometry; real-time fMRT, planning and execution of experimental paradigms; data analysis and statistics; reliability and quality of fMRT experiments; eye movement, neuropharmacologic functional imaging, gender dependent effects, age dependent effects, resting state fMRT; meta analyses. (II) Higher brain achievements: movement and action, perception and attention, visual system and object processing, auditory system, executive functions, somatosensoric system, memory, learning and gratification system, functional neuro-anatomy of speech, number processing and calculation, connectivity, social cognition, emotions, olfactory system, functional imaging in the pain research. (III) Disease pattern: dystonia, Parkinson syndrome, Chorea Huntington, aphasia, apraxia, neglect, amnesia, function recovery following apoplexy, schizophrenia, affective disturbances, anxiety and fear, post-traumatic disturbances, hyperactivity syndrome, personality disorder. (IV) Working tools: brain atlas, tool for integrated analyses of structure, functionality and connectivity (SPM anatomy toolbox).

  12. Anatomy of the human hypothalamus (chiasmatic and tuberal region).

    Science.gov (United States)

    Braak, H; Braak, E

    1992-01-01

    The hypothalamus sensu stricto consists of the chiasmatic, the tuberal and the mamillary region. The present study is confined to the poorly myelinated chiasmatic and tuberal region. Both regions harbor many nuclear grays with relatively clear-cut boundaries embedded in an ill-defined nerve cell assembly referred to as the hypothalamic gray. Prominent components of the chiasmatic region are the magnocellular neurosecretory complex (supraoptic nucleus, paraventricular nucleus, accessory neurosecretory nucleus), the sexually dimorphic intermediate nucleus, the suprachiasmatic and retrochiasmatic nuclei. The dominating structure of the tuberal region is the complex of the ventromedial, posteromedial and dorsomedial nuclei supplemented by the periventricular and infundibular nuclei. Lateral portions of the tuber cinereum harbor the lateral tuberal nucleus and the tuberomamillary nucleus. The lateral tuberal nucleus exhibits pronounced cell loss in Huntington's chorea and is also severely involved in cases of dementia with argyrophilic grains. The large nerve cells of the tuberomamillary nucleus show particularly severe affection in both Alzheimer's (intraneuronal neurofibrillary changes) and Parkinson's disease (Lewy bodies).

  13. From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17.

    Science.gov (United States)

    Koutsis, Georgios; Panas, Marios; Paraskevas, George P; Bougea, Anastasia M; Kladi, Athina; Karadima, Georgia; Kapaki, Elisabeth

    2014-01-01

    Introduction. Spinocerebellar ataxia 17 (SCA 17) is a rare autosomal dominant cerebellar ataxia (ADCA) caused by a CAG/CAA expansion in the TBP gene, reported from a limited number of countries. It is a very heterogeneous ADCA characterized by ataxia, cognitive decline, psychiatric symptoms, and involuntary movements, with some patients presenting with Huntington disease (HD) phenocopies. The SCA 17 expansion is stable during parent-child transmission and intrafamilial phenotypic homogeneity has been reported. However, significant phenotypic variability within families has also been observed. Report of the Family. We presently report a Greek family with a pathological expansion of 54 repeats at the SCA 17 locus that displayed remarkable phenotypic variability. Among 3 affected members, one presented with HD phenocopy; one with progressive ataxia, dementia, chorea, dystonia, and seizures, and one with mild slowly progressive ataxia with minor cognitive and affective symptoms. Conclusions. This is the first family with SCA 17 identified in Greece and highlights the multiple faces of this rare disorder, even within the same family.

  14. Rheumatic fever associated with antiphospholipid syndrome: systematic review.

    Science.gov (United States)

    da Silva, Felipe; de Carvalho, Jozélio

    2014-01-01

    To evaluate the clinical associations between rheumatic fever and antiphospholipid syndrome and the impact of coexistence of these two diseases in an individual. Systematic review in electronics databases, regarding the period from 1983 to 2012. The keywords: "Rheumatic Fever," "Antiphospholipid Syndrome," and "Antiphospholipid Antibody Syndrome" are used. were identified 11 cases described in the literature about the association of rheumatic fever and antiphospholipid syndrome. Clinical presentation of rheumatic fever was characterized by the predominance of carditis (11/11) and chorea (7/11). Regarding the manifestations of APS, the stroke was observed in 7/11 (63.6%), with one of them having probable embolic origin. The present study brings the information that the association between APS and RF is quite rare, however, is of great clinical importance. Doctors who deal with the RF should include in their differential diagnosis the APS, especially in the presence of stroke in patients with RF and whose echocardiogram does not show intracavitary thrombi.

  15. Vascular hemichorea: case report and review

    Directory of Open Access Journals (Sweden)

    Bárbara Martínez Alfonzo

    2014-04-01

    Full Text Available Chorea rarely complicates ischemic or hemorrhagic cerebral vascular lesions. Clinical symptoms usually involve one side of the body while the injury is situated on the contralateral cerebral hemisphere. Spontaneous remission is the norm, but sometimes symptomatic treatment is required. A 58-year-old male patient who suffers from untreated high blood pressure, type II obesity, smokes 6 packs of cigarettes per year and has a moderate intake of alcohol is presented. The patient’s recent history began three days before he appeared at the Emergency Department. His symptoms were ceaseless, involuntary movements in his left arm and foot during day and night with no restriction of voluntary movements. Physical examination and laboratory tests revealed no other findings. Magnetic resonance imaging of the brain showed hyperintensity in the right posterolateral thalamic region consistent with ischemic cerebrovascular disease. Symptomatic therapy was indicated and his underlying conditions were addressed. The importance of this case lies on the low prevalence as well as the scarcity of publications regarding vascular causes of hemichorea, including diagnosis, therapy and prognosis.

  16. Movement disorders

    International Nuclear Information System (INIS)

    Leenders, K.L.

    1986-01-01

    This thesis describes the measurement of brain-tissue functions in patients with movement disorders using positron emission tomography (PET). This scanning technique is a method for direct in vivo quantitation of the regional tissue content of positron emitting radionuclides in brain (or other organs) in an essentially non-invasive way. Ch. 2 outlines some general features of PET and describes the scanner which has been used for the studies in this thesis. Also the tracer methodology, as applied to data investigations of movement disorders, are discussed. Ch. 3 contains the results of the PET investigations which were performed in the study of movement disorders. The results are presented in the form of 12 papers. The main goals of these studies were the understanding of the pathophysiology of Parkinson's disease, Huntington's chorea, Steele-Richardson-Olzewski syndrome and special case reports. Ch. 4 summarizes the results of these publications and Ch. 5 concludes the main part of this thesis with a general discussion of movement disorders in relation to PET investigations. 697 refs.; 60 figs.; 31 tabs

  17. Controlled clinical trial of cannabidiol in Huntington's disease.

    Science.gov (United States)

    Consroe, P; Laguna, J; Allender, J; Snider, S; Stern, L; Sandyk, R; Kennedy, K; Schram, K

    1991-11-01

    Based on encouraging preliminary findings, cannabidiol (CBD), a major nonpsychotropic constituent of Cannabis, was evaluated for symptomatic efficacy and safety in 15 neuroleptic-free patients with Huntington's Disease (HD). The effects of oral CBD (10 mg/kg/day for 6 weeks) and placebo (sesame oil for 6 weeks) were ascertained weekly under a double-blind, randomized cross-over design. A comparison of the effects of CBD and placebo on chorea severity and other therapeutic outcome variables, and on a Cannabis side effect inventory, clinical lab tests and other safety outcome variables, indicated no significant (p greater than 0.05) or clinically important differences. Correspondingly, plasma levels of CBD were assayed by GC/MS, and the weekly levels (mean range of 5.9 to 11.2 ng/ml) did not differ significantly over the 6 weeks of CBD administration. In summary, CBD, at an average daily dose of about 700 mg/day for 6 weeks, was neither symptomatically effective nor toxic, relative to placebo, in neuroleptic-free patients with HD.

  18. Paraneoplastic autoimmune movement disorders.

    Science.gov (United States)

    Lim, Thien Thien

    2017-11-01

    To provide an overview of paraneoplastic autoimmune disorders presenting with various movement disorders. The spectrum of paraneoplastic autoimmune disorders has been expanding with the discovery of new antibodies against cell surface and intracellular antigens. Many of these paraneoplastic autoimmune disorders manifest as a form of movement disorder. With the discovery of new neuronal antibodies, an increasing number of idiopathic or neurodegenerative movement disorders are now being reclassified as immune-mediated movement disorders. These include anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis which may present with orolingual facial dyskinesia and stereotyped movements, CRMP-5 IgG presenting with chorea, anti-Yo paraneoplastic cerebellar degeneration presenting with ataxia, anti-VGKC complex (Caspr2 antibodies) neuromyotonia, opsoclonus-myoclonus-ataxia syndrome, and muscle rigidity and episodic spasms (amphiphysin, glutamic acid decarboxylase, glycine receptor, GABA(A)-receptor associated protein antibodies) in stiff-person syndrome. Movement disorders may be a presentation for paraneoplastic autoimmune disorders. Recognition of these disorders and their common phenomenology is important because it may lead to the discovery of an occult malignancy. Copyright © 2017 Elsevier Ltd. All rights reserved.

  19. From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17

    Directory of Open Access Journals (Sweden)

    Georgios Koutsis

    2014-01-01

    Full Text Available Introduction. Spinocerebellar ataxia 17 (SCA 17 is a rare autosomal dominant cerebellar ataxia (ADCA caused by a CAG/CAA expansion in the TBP gene, reported from a limited number of countries. It is a very heterogeneous ADCA characterized by ataxia, cognitive decline, psychiatric symptoms, and involuntary movements, with some patients presenting with Huntington disease (HD phenocopies. The SCA 17 expansion is stable during parent-child transmission and intrafamilial phenotypic homogeneity has been reported. However, significant phenotypic variability within families has also been observed. Report of the Family. We presently report a Greek family with a pathological expansion of 54 repeats at the SCA 17 locus that displayed remarkable phenotypic variability. Among 3 affected members, one presented with HD phenocopy; one with progressive ataxia, dementia, chorea, dystonia, and seizures, and one with mild slowly progressive ataxia with minor cognitive and affective symptoms. Conclusions. This is the first family with SCA 17 identified in Greece and highlights the multiple faces of this rare disorder, even within the same family.

  20. Rheumatic Fever Associated with Antiphospholipid Syndrome: Systematic Review

    Directory of Open Access Journals (Sweden)

    Felipe da Silva

    2014-01-01

    Full Text Available Objective. To evaluate the clinical associations between rheumatic fever and antiphospholipid syndrome and the impact of coexistence of these two diseases in an individual. Methods. Systematic review in electronics databases, regarding the period from 1983 to 2012. The keywords: “Rheumatic Fever,” “Antiphospholipid Syndrome,” and “Antiphospholipid Antibody Syndrome” are used. Results. were identified 11 cases described in the literature about the association of rheumatic fever and antiphospholipid syndrome. Clinical presentation of rheumatic fever was characterized by the predominance of carditis (11/11 and chorea (7/11. Regarding the manifestations of APS, the stroke was observed in 7/11 (63.6%, with one of them having probable embolic origin. Conclusion. The present study brings the information that the association between APS and RF is quite rare, however, is of great clinical importance. Doctors who deal with the RF should include in their differential diagnosis the APS, especially in the presence of stroke in patients with RF and whose echocardiogram does not show intracavitary thrombi.

  1. Basal ganglia, movement disorders and deep brain stimulation: advances made through non-human primate research.

    Science.gov (United States)

    Wichmann, Thomas; Bergman, Hagai; DeLong, Mahlon R

    2018-03-01

    Studies in non-human primates (NHPs) have led to major advances in our understanding of the function of the basal ganglia and of the pathophysiologic mechanisms of hypokinetic movement disorders such as Parkinson's disease and hyperkinetic disorders such as chorea and dystonia. Since the brains of NHPs are anatomically very close to those of humans, disease states and the effects of medical and surgical approaches, such as deep brain stimulation (DBS), can be more faithfully modeled in NHPs than in other species. According to the current model of the basal ganglia circuitry, which was strongly influenced by studies in NHPs, the basal ganglia are viewed as components of segregated networks that emanate from specific cortical areas, traverse the basal ganglia, and ventral thalamus, and return to the frontal cortex. Based on the presumed functional domains of the different cortical areas involved, these networks are designated as 'motor', 'oculomotor', 'associative' and 'limbic' circuits. The functions of these networks are strongly modulated by the release of dopamine in the striatum. Striatal dopamine release alters the activity of striatal projection neurons which, in turn, influences the (inhibitory) basal ganglia output. In parkinsonism, the loss of striatal dopamine results in the emergence of oscillatory burst patterns of firing of basal ganglia output neurons, increased synchrony of the discharge of neighboring basal ganglia neurons, and an overall increase in basal ganglia output. The relevance of these findings is supported by the demonstration, in NHP models of parkinsonism, of the antiparkinsonian effects of inactivation of the motor circuit at the level of the subthalamic nucleus, one of the major components of the basal ganglia. This finding also contributed strongly to the revival of the use of surgical interventions to treat patients with Parkinson's disease. While ablative procedures were first used for this purpose, they have now been largely

  2. Echolalia or functional repetition in conversation--a case study of an individual with Huntington's disease.

    Science.gov (United States)

    Saldert, Charlotta; Hartelius, Lena

    2011-01-01

    In this case study, we investigated the use of repetition in an individual with a neurogenic communication disorder. We present an analysis of interaction in natural conversations between a woman with advanced Huntington's disease (HD), whose speech had been described as sometimes characterised by echolalia, and her personal assistant. The conversational interaction is analysed on a sequential level, and recurrent patterns are explored. Although the ability of the person with HD to interact is affected by chorea, word retrieval problems and reduced comprehension, she takes an active part in conversation. The conversational partner's contributions are often adapted to her communicative ability as they are formulated as questions or suggestions that can be elaborated on or responded to with a simple 'yes' or 'no'. The person with HD often repeats the words of her conversational partner in a way that extends her contributions and shows listenership, and this use of repetition is also frequent in ordinary conversations between non-brain-damaged individuals. The results show that the conversation partners in this case cooperate in making the conversation proceed and evolve, and that verbal repetition is used in a way that works as a strategy for compensating for the impairment.

  3. The link between autoimmune diseases and obsessive-compulsive and tic disorders: A systematic review.

    Science.gov (United States)

    Pérez-Vigil, Ana; Fernández de la Cruz, Lorena; Brander, Gustaf; Isomura, Kayoko; Gromark, Caroline; Mataix-Cols, David

    2016-12-01

    Immunological factors are increasingly recognized as being important in a range of neuropsychiatric disorders. We aimed to summarize the disperse and often conflicting literature on the potential association between autoimmune diseases (ADs) and obsessive-compulsive disorder (OCD) and tic disorders. We searched PubMed, EMBASE, and PsycINFO for original studies evaluating the relationship between ADs and OCD/tic disorders until July, 13th 2016. Seventy-four studies met inclusion criteria. Overall, the studies were of limited methodological quality. Rates of OCD were higher in rheumatic fever patients who were also affected by its neurological manifestation, Sydenham's chorea. The literature on other ADs was scarce and the findings inconclusive. Few studies examined the association between ADs and tic disorders. A handful of family studies reported elevated rates of ADs in first-degree relatives of individuals with OCD/tic disorders, and vice versa, potentially suggesting shared genetic and/or environmental mechanisms. In conclusion, at present, there is modest evidence for a possible association and familial co-aggregation between ADs and OCD/tic disorders. We offer some suggestions for future research. Copyright © 2016 Elsevier Ltd. All rights reserved.

  4. Tetrabenazine-induced oculogyric crisis – a rare complication in the treatment of Gilles de la Tourette syndrome

    Directory of Open Access Journals (Sweden)

    Janik P

    2016-02-01

    Full Text Available Piotr Janik,1 Monika Figura1,2 1Department of Neurology, Anna Gostynska Wolski Hospital, 2Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Warsaw, Poland Abstract: Tetrabenazine is used in the treatment of chorea, tardive dyskinesia, tics, and dystonia. It rarely causes acute eyeball dystonia and the description of this complication in Gilles de la Tourette syndrome is limited. We provide a description of an acute oculogyric crisis caused by tetrabenazine in a patient with severe tics. The patient had never developed acute dystonic reactions, although he was previously exposed to numerous dopamine receptor-blocking agents. After 8 days of therapy with tetrabenazine at a dose of 62.5 mg daily, the patient developed involuntary movement of the eyeballs. Withdrawal of tetrabenazine caused resolution of all symptoms after a week. The purpose of this description is to draw attention to the potential of tetrabenazine to induce acute oculogyric crisis as well as the difficulty of differentiating drug-induced dystonia from dystonic tics in patients with Gilles de la Tourette syndrome. Keywords: acute dyskinesia, dystonic tics, eyeball dystonia, drug-induced dystonia, tic disorder, tetrabenazine-induced side effects

  5. Hemichorea and dystonia due to frontal lobe meningioma

    Directory of Open Access Journals (Sweden)

    Abdul Qayyum Rana

    2014-01-01

    Full Text Available Tumors originating from the meninges, also known as meningiomas, have rarely been known to cause parkinsonian symptoms and other movement disorders. Although some cases of AV malformations causing movement disorders have been described in the literature, not much has been reported about meningiomas in this regard. The aim of this case report is to further highlight the importance of brain imaging in patients with movement disorders for even a benign tumor; and also emphasize the need for a careful movement disorder examination because more than one phenomenology of movement disorders may result from the mechanical pressure caused by a tumor. We present a case report of a patient with a heavily calcified right frontal lobe meningioma. Our patient had irregular, involuntary, brief, fleeting and unpredictable movements of her left upper and lower extremities, consistent with chorea. The patient also had abnormal dystonic posturing of her left arm while walking. This case report highlights the importance of brain imaging as well as careful neurological examinations of patients with benign meningiomas. Moreover, it illustrates the remarkable specificity yet clinical diversity of meningiomas in presentation through movement disorders.

  6. Revisiting the Molecular Mechanism of Neurological Manifestations in Antiphospholipid Syndrome: Beyond Vascular Damage

    Science.gov (United States)

    Carecchio, M.; Cantello, R.; Comi, C.

    2014-01-01

    Antiphospholipid syndrome (APS) is a multiorgan disease often affecting the central nervous system (CNS). Typically, neurological manifestations of APS include thrombosis of cerebral vessels leading to stroke and requiring prompt initiation of treatment with antiplatelet drugs or anticoagulant therapy. In these cases, alterations of the coagulation system at various levels caused by multiple effects of antiphospholipid antibodies (aPL) have been postulated to explain the vascular damage to the CNS in APS. However, several nonvascular neurological manifestations of APS have progressively emerged over the past years. Nonthrombotic, immune-mediated mechanisms altering physiological basal ganglia function have been recently suggested to play a central role in the pathogenesis of these manifestations that include, among others, movement disorders such as chorea and behavioral and cognitive alterations. Similar clinical manifestations have been described in other autoimmune CNS diseases such as anti-NMDAR and anti-VGCK encephalitis, suggesting that the spectrum of immune-mediated basal ganglia disorders is expanding, possibly sharing some pathophysiological mechanisms. In this review, we will focus on thrombotic and nonthrombotic neurological manifestations of APS with particular attention to immune-mediated actions of aPL on the vascular system and the basal ganglia. PMID:24741580

  7. What should we want to know about our future? A Kantian view on predictive genetic testing.

    Science.gov (United States)

    Heinrichs, Bert

    2005-01-01

    Recent advances in genomic research have led to the development of new diagnostic tools, including tests which make it possible to predict the future occurrence of monogenetic diseases (e.g. Chorea Huntington) or to determine increased susceptibilities to the future development of more complex diseases (e.g. breast cancer). The use of such tests raises a number of ethical, legal and social issues which are usually discussed in terms of rights. However, in the context of predictive genetic tests a key question arises which lies beyond the concept of rights, namely, What should we want to know about our future? In the following I shall discuss this question against the background of Kant's Doctrine of Virtue. It will be demonstrated that the system of duties of virtue that Kant elaborates in the second part of his Metaphysics of Morals offers a theoretical framework for addressing the question of a proper scope of future knowledge as provided by genetic tests. This approach can serve as a source of moral guidance complementary to a justice perspective. It does, however, not rest on the-rather problematic--claim to be able to define what the "good life" is.

  8. A monoclonal antibody TrkB receptor agonist as a potential therapeutic for Huntington's disease.

    Directory of Open Access Journals (Sweden)

    Daniel Todd

    Full Text Available Huntington's disease (HD is a devastating, genetic neurodegenerative disease caused by a tri-nucleotide expansion in exon 1 of the huntingtin gene. HD is clinically characterized by chorea, emotional and psychiatric disturbances and cognitive deficits with later symptoms including rigidity and dementia. Pathologically, the cortico-striatal pathway is severely dysfunctional as reflected by striatal and cortical atrophy in late-stage disease. Brain-derived neurotrophic factor (BDNF is a neuroprotective, secreted protein that binds with high affinity to the extracellular domain of the tropomyosin-receptor kinase B (TrkB receptor promoting neuronal cell survival by activating the receptor and down-stream signaling proteins. Reduced cortical BDNF production and transport to the striatum have been implicated in HD pathogenesis; the ability to enhance TrkB signaling using a BDNF mimetic might be beneficial in disease progression, so we explored this as a therapeutic strategy for HD. Using recombinant and native assay formats, we report here the evaluation of TrkB antibodies and a panel of reported small molecule TrkB agonists, and identify the best candidate, from those tested, for in vivo proof of concept studies in transgenic HD models.

  9. Cranial MRI in Wilson's disease

    International Nuclear Information System (INIS)

    Prayer, L.; Grimm, G.

    1990-01-01

    Thirty-eight patients with biochemically proven Wilson's disease underwent magnetic resonanceimaging (MRI) of the brain as well as neurological examinations. The patients were scanned using spin-echo (SE) sequences; the neurologist was looking for typical symptoms: Dysarthria, tremor, ataxia, rigidity/bradykinesia and chorea/dystonia. Pathological MR findings believed secondary to this uncommon inherited disorder of copper metabolism were found in twenty-two subjects. Focal abnormalities were seen in the lenticular, thalamic and caudate nuclei as well as in brain stem and white matter; these lesions were best demonstrated on T2-weighted sequences as hyperintense areas. In eight patients we found diffuse brain atrophy with consecutive widening of the ventricular system. Five subjects showed mild, nineteen severe neurologic deficits. Generally there was no correlation between MR findings and clinical neurological symptoms; the impairment of cell-metabolism causing functional alterations of the brain precedes morphological changes. During treatment with the copper chelator D-penicillamine there seemed to be a phased course of disease. Shortening of T1-relaxation due to paramagnetic influence of copper was not seen; a possible explanation could be intracellular deposition - a proton-electron-dipolar-dipolar-interaction would there for be impossible. (orig.)

  10. [Some neurologic and psychiatric complications in endocrine disorders: the thyroid gland].

    Science.gov (United States)

    Aszalós, Zsuzsa

    2007-02-18

    Thyroid hormones are of primary importance for the perinatal development of the central nervous system, and for normal function of the adult brain. These hormones primarily regulate the transcription of specific target genes. They increase the cortical serotonergic neurotransmission, and play an important role in regulating central noradrenergic and GABA function. Thyroid deficiency during the perinatal period results in mental retardation. Hypothyroidism of the adults causes most frequently dementia and depression. Other less common clinical pictures include myxoedema coma, dysfunction of cerebellum and cranial nerves. Hypothyroidism also increases predisposition of stroke. Peripheral diseases frequently include polyneuropathy, carpal tunnel syndrome, myalgic state, and rarely myokymia. Nearly all the hyperthyroid patients show minor psychiatric signs, and infrequently psychosis, dementia, confusion state, depression, apathetic thyrotoxicosis, thyrotoxic crisis, seizures, pyramidal signs, or chorea occur. The peripheral complications may be indicated by chronic thyrotoxic myopathy, infiltrative ophthalmopathy, myasthenia gravis, periodic hypokalemic paralysis and polyneuropathy. Generalized resistance to thyroid hormone was confirmed in a number of patients with attention deficit-hyperactivity disorder. Significantly elevated antithyroid antibody titers characterize Hashimoto's encephalopathy. This condition is a rare, acute - subacute, serious, life threatening, but steroid-responsive, relapsing-remitting, autoimmune disease.

  11. C9ORF72 hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population.

    Science.gov (United States)

    Koutsis, Georgios; Karadima, Georgia; Kartanou, Chrisoula; Kladi, Athina; Panas, Marios

    2015-01-01

    An expanded hexanucleotide repeat in C9ORF72 has been identified as the most common genetic cause of amyotrophic lateral sclerosis and/or frontotemporal dementia in many populations, including the Greek. Recently, C9ORF72 expansions were reported as the most common genetic cause of Huntington disease (HD) phenocopies in a UK population. In the present study, we screened a selected cohort of 40 Greek patients with HD phenocopies for C9ORF72 hexanucleotide repeat expansions using repeat-primed polymerase chain reaction. We identified 2 patients (5%) with pathologic expansions. The first patient had chorea, behavioral-psychiatric disturbance, cognitive impairment, and a positive family history, fulfilling the strictest criteria for HD phenocopy. The second patient was sporadic and had parkinsonism, behavioral-psychiatric disturbance, and cognitive impairment, corresponding to a broader definition of HD phenocopy. These findings identify C9ORF72 expansions as a frequent cause of HD phenocopies in the Greek population, confirming recent findings in other populations and supporting proposed diagnostic testing for C9ORF72 expansions in patients with HD-like syndromes. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Huntington's Disease in a Patient Misdiagnosed as Conversion Disorder.

    Science.gov (United States)

    Nogueira, João Machado; Franco, Ana Margarida; Mendes, Susana; Valadas, Anabela; Semedo, Cristina; Jesus, Gustavo

    2018-01-01

    Huntington's disease (HD) is an inherited, progressive, and neurodegenerative neuropsychiatric disorder caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide in Interested Transcript (IT) 15 gene on chromosome 4. This pathology typically presents in individuals aged between 30 and 50 years and the age of onset is inversely correlated with the length of the CAG repeat expansion. It is characterized by chorea, cognitive deficits, and psychiatric symptoms. Usually the psychiatric disorders precede motor and cognitive impairment, Major Depressive Disorder and anxiety disorders being the most common presentations. We present a clinical case of a 65-year-old woman admitted to our Psychiatric Acute Unit. During the 6 years preceding the admission, the patient had clinical assessments made several times by different specialties that focused only on isolated symptoms, disregarding the syndrome as a whole. In the course of her last admission, the patient was referred to our Neuropsychiatric Team, which made the provisional diagnosis of late-onset Huntington's disease, later confirmed by genetic testing. This clinical vignette highlights the importance of a multidisciplinary approach to atypical clinical presentations and raises awareness for the relevance of investigating carefully motor symptoms in psychiatric patients.

  13. Magnetic resonance imaging and neurolupus

    International Nuclear Information System (INIS)

    Schott, A.M.; Colson, F.; Tebib, J.; Noel, E.; Bouvier, M.

    1990-01-01

    Magnetic resonance imaging (MRI) was assessed in the management of neuropsychiatric manifestations occurring in 6 SLE patients. The MRI scans were normal in 3 cases and was associated with remission of the symptoms except for a patient who experienced a chorea at the time of the examination. Abnormal MRI scans always revealed more lesions than CT scan. 2 different patterns of abnormalities seem to correspond to 2 specific disorders. In 2 patients with clinical presentation suggesting a cortical ischemia by vascular thrombosis, both MRI scans showed areas of abnormal high signal intensities located in the subcortical white matter. In one last patient, MRI scan revealed multiple focal areas of high signal intensities (on T 1 weighter scans) disseminated not only in the deep white matter but also in the gray one. These lesions could be depend upon demyelinisation which may occur by a local vascular process. This serie confirms the interest of MRI in the management of SLE brain involvement as well as it points out some problem of interpretation. This suggest further comparative studies especially at the real onset and during the course of neuro-psychiatric manifestations. At last, the coronal sections may be more informative for the diagnosis and patholophysiology than the horizontal ones [fr

  14. Hemichorea in a diabetes mellitus patient following acute ischemic stroke with changes in regional cerebral blood flow

    Directory of Open Access Journals (Sweden)

    Yutaka Suzuki

    2015-03-01

    Full Text Available It is not unusual to observe hemichorea in patients with diabetes mellitus, with origins attributable to recent ischemia. Our patient was a 66-year-old female with diabetes mellitus who suddenly developed right hemichorea, mild muscle weakness of the right upper extremity, ideational apraxia, and acalculia. Her blood glucose was 600 mg/dL, and HbA1c was 13.3%. After the patient underwent head magnetic resonance imaging (MRI, a new cerebral infarction was observed in the left frontal lobe, and treatment was started with edaravone and cilostazol. At the same time, insulin treatment was also started for hyperglycemia. The acalculia and ideational apraxia improved approximately 1 week after treatment initiated, and the hemichorea also decreased. ECD-SPECT was performed on admission, and it was observed that blood flow was decreased in the left frontal lobe and striatum, but increased in the thalamus; two weeks later on follow-up ECD-SPECT, blood flow had increased slightly in the left forebrain and striatum, while it had decreased slightly in the thalamus. This suggests that the cause of hemichorea was related to ischemia. When the activity of the pallidum is impaired, it is presumed that the inhibitory activity towards the thalamus weakens and the thalamic cells become over-excited, causing chorea.

  15. Dystonia and paroxysmal dyskinesias: under-recognized movement disorders in domestic animals? A comparison with human dystonia/paroxysmal dyskinesias.

    Directory of Open Access Journals (Sweden)

    Angelika eRichter

    2015-11-01

    Full Text Available Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research. Several hyperkinetic movement disorders, described in dogs, horses and cattle, show similarities to these human movement disorders. Although dystonia is regarded as the third most common movement disorder in humans, it is often misdiagnosed because of the heterogeneity of etiology and clinical presentation. Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. In order to attract attention to these movement disorders, i.e. dystonia and paroxysmal dyskinesias associated with dystonia, and to enhance interest in translational research, this review gives a brief overview of the current literature regarding dystonia/paroxysmal dyskinesia in humans, and summarizes similar hereditary movement disorders reported in domestic animals.

  16. Imaging the PCP site of the NMDA ion channel

    Energy Technology Data Exchange (ETDEWEB)

    Waterhouse, Rikki N. E-mail: rnw7@columbia.edu

    2003-11-01

    The N-methyl-D-aspartate (NMDA) ion channel plays a role in neuroprotection, neurodegeneration, long-term potentiation, memory, and cognition. It is implicated in the pathophysiology of several neurological and neuropsychiatric disorders including Parkinson's Disease, Huntington's Chorea, schizophrenia, alcoholism and stroke. The development of effective radiotracers for the study of NMDA receptors is critical for our understanding of their function, and their modulation by endogenousr substances or therapeutic drugs. Since the NMDA/PCP receptor lies within the channel, it is a unique target and is theoretically accessible only when the channel is in the active and 'open' state, but not when it is in the inactive or 'closed' state. The physical location of the NMDA/PCP receptor not only makes it an important imaging target but also complicates the development of suitable PET and SPECT radiotracers for this site. An intimate understanding of the biochemical, pharmacological, physiological and behavioral processes associated with the NMDA ion channel is essential to develop improved imaging agents. This review outlines progress made towards the development of radiolabeled agents for PCP sites of the NMDA ion channel. In addition, the animal and pharmacological models used for in vitro and in vivo assessment of NMDA receptor targeted agents are discussed.

  17. Neurological implications and neuropsychological considerations on folk music and dance.

    Science.gov (United States)

    Sironi, Vittorio A; Riva, Michele A

    2015-01-01

    Neurological and neuropsychological aspects of folk music and traditional dance have been poorly investigated by historical and scientific literature. Some of these performances could be indeed the manifestation of latent pathological conditions or the expression of liberation rituals. This chapter aimed at analyzing the relationships between traditional dance, folk music, and neurological and psychiatric disorders. Since ancient times, dance has been used in the individual or collective as treatment of some diseases, including epilepsy and movement disorders (dyskinesia, chorea, etc.). Dionysia in Ancient Greece, St. Vitus dance in the Middle Age, tarantism and other traditional dances of southern Italy and of non-Western countries might be credited as curative rituals of these neurological and psychiatric conditions. During the nineteenth century, dance was also used for the treatment of psychiatric patients; the relationship between dance and insanity could also be reflected in classical ballets and music of that period. Nowadays, neuropsychiatric manifestations could also be evidenced in modern dances (mass fainting at rock concerts, flash mobs); some ballroom dances are commonly used for the rehabilitation of patients suffering from neurodegenerative and psychiatric conditions. Interdisciplinary research on these subjects (ethnomusicology and cultural anthropology, clinical neurology and dynamic psychology, neuroradiology and neurophysiology, and socioneurology and neuromusicology) should be increased. © 2015 Elsevier B.V. All rights reserved.

  18. Cannabis in the Treatment of Dystonia, Dyskinesias, and Tics.

    Science.gov (United States)

    Koppel, Barbara S

    2015-10-01

    Cannabis has been used for many medicinal purposes, including management of spasms, dystonia, and dyskinesias, with variable success. Its use for tetanus was described in the second century BCE, but the literature continues to include more case reports and surveys of its beneficial effects in managing symptoms of hyperkinetic movement disorders than randomized controlled trials, making evidence-based recommendations difficult. This paper reviews clinical research using various formulations of cannabis (botanical products, oral preparations containing ∆(9)-tetrahydrocannabinol and/or cannabidiol) and currently available preparations in the USA (nabilone and dronabinol). This has been expanded from a recent systematic review of cannabis use in several neurologic conditions to include case reports and case series and results of anonymous surveys of patients using cannabis outside of medical settings, with the original evidence classifications marked for those papers that followed research protocols. Despite overlap in some patients, dyskinesias will be treated separately from dystonia and chorea; benefit was not established beyond individual patients for these conditions. Tics, usually due to Tourettes, did respond to cannabis preparations. Side effects reported in the trials will be reviewed but those due to recreational use, including the dystonia that can be secondary to synthetic marijuana preparations, are outside the scope of this paper.

  19. Clinical presentation of juvenile Huntington disease

    Directory of Open Access Journals (Sweden)

    Ruocco Heloísa H.

    2006-01-01

    Full Text Available OBJECTIVE: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD: All patients were interviewed following a structured clinical questioner. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG repeat in the Huntington Disease gene. High resolution brain MRI was performed in all patients. RESULTS: We identified 4 patients with juvenile onset of disease among 50 patients with Huntington disease followed prospectively in our Neurogenetics clinic. Age at onset varied from 3 to 13 years, there were 2 boys, and 3 patients had a paternal inheritance of the disease. Expanded Huntington disease allele sizes varied from 41 to 69 trinucleotide repeats. The early onset patients presented with rigidity, bradykinesia, dystonia, dysarthria, seizures and ataxia. MRI showed severe volume loss of caudate and putamen nuclei (p=0.001 and reduced cerebral and cerebellum volumes (p=0.01. CONCLUSION: 8% of Huntington disease patients seen in our clinic had juvenile onset of the disease. They did not present with typical chorea as seen in adult onset Huntington disease. There was a predominance of rigidity and bradykinesia. Two other important clinical features were seizures and ataxia, which related with the imaging findings of early cortical atrophy and cerebellum volume loss.

  20. Diagnosing antiphospholipid syndrome: 'extra-criteria' manifestations and technical advances.

    Science.gov (United States)

    Sciascia, Savino; Amigo, Mary-Carmen; Roccatello, Dario; Khamashta, Munther

    2017-09-01

    First described in the early 1980s, antiphospholipid syndrome (APS) is a unique form of acquired autoimmune thrombophilia in which patients present with clinical features of recurrent thrombosis and pregnancy morbidity and persistently test positive for the presence of antiphospholipid antibodies (aPL). At least one clinical (vascular thrombosis or pregnancy morbidity) and one lab-based (positive test result for lupus anticoagulant, anticardiolipin antibodies and/or anti-β2-glycoprotein 1 antibodies) criterion have to be met for a patient to be classified as having APS. However, the clinical spectrum of APS encompasses additional manifestations that can affect many organs and cannot be explained exclusively by patients being in a prothrombotic state; clinical manifestations not listed in the classification criteria (known as extra-criteria manifestations) include neurologic manifestations (chorea, myelitis and migraine), haematologic manifestations (thrombocytopenia and haemolytic anaemia), livedo reticularis, nephropathy and valvular heart disease. Increasingly, research interest has focused on the development of novel assays that might be more specific for APS than the current aPL tests. This Review focuses on the current classification criteria for APS, presenting the role of extra-criteria manifestations and lab-based tests. Diagnostic approaches to difficult cases, including so-called seronegative APS, are also discussed.

  1. Imaging the PCP site of the NMDA ion channel

    International Nuclear Information System (INIS)

    Waterhouse, Rikki N.

    2003-01-01

    The N-methyl-D-aspartate (NMDA) ion channel plays a role in neuroprotection, neurodegeneration, long-term potentiation, memory, and cognition. It is implicated in the pathophysiology of several neurological and neuropsychiatric disorders including Parkinson's Disease, Huntington's Chorea, schizophrenia, alcoholism and stroke. The development of effective radiotracers for the study of NMDA receptors is critical for our understanding of their function, and their modulation by endogenousr substances or therapeutic drugs. Since the NMDA/PCP receptor lies within the channel, it is a unique target and is theoretically accessible only when the channel is in the active and 'open' state, but not when it is in the inactive or 'closed' state. The physical location of the NMDA/PCP receptor not only makes it an important imaging target but also complicates the development of suitable PET and SPECT radiotracers for this site. An intimate understanding of the biochemical, pharmacological, physiological and behavioral processes associated with the NMDA ion channel is essential to develop improved imaging agents. This review outlines progress made towards the development of radiolabeled agents for PCP sites of the NMDA ion channel. In addition, the animal and pharmacological models used for in vitro and in vivo assessment of NMDA receptor targeted agents are discussed

  2. MR findings in pontocerebellar hypoplasia

    Energy Technology Data Exchange (ETDEWEB)

    Uhl, M.; Pawlik, H.; Laubenberger, J.; Langer, M. [Department of Radiology, Division of Paediatric Radiology, University Hospital of Freiburg, Freiburg (Germany); Darge, K. [Department of Paediatric Radiology, Children`s Hospital of the University of Heidelberg, Heidelberg (Germany); Baborie, A. [Department of Neuropathology, Neurozentrum, University of Freiburg, Freiburg (Germany); Korinthenberg, R. [Department of Neuropaediatrics, Children`s Hospital, University of Freiburg, Freiburg (Germany)

    1998-07-01

    We present four cases with combined hypoplasia of the cerebellum and the ventral pons - pontocerebellar hypoplasia (PCH). PCH represents an autosomal recessive neurodegenerative disorder with fetal onset. The disease is rare, with less than 20 cases having been reported. The main findings of PCH and the inclusion criteria for our cases can be summarised as progressive microcephaly from birth, pontocerebellar hypoplasia documented by MRI and marked chorea, which may change, later in childhood, to more dystonic patterns. The cerebral cortex becomes progressively atrophic. Motor and mental development are delayed, and epilepsy, mainly tonic-clonic seizures, is frequent. The MRI features in all of our cases were: (1) Hypoplastic cerebellum situated close to the tentorium. The hypoplastic cerebellum has a reduced number of folia, in contrast to the normal number of thin folia in simple cerebellar atrophy. (2) The cerebellar hemispheres are reduced to bean-like or wing-like structures. The cerebellar hemispheres appear to `float` in the posterior fossa. (3) Markedly hypoplastic ventral pons. (4) Slight atrophy of the supratentorial gyral pattern. (5) Dilated cerebromedullary cistern and fourth ventricle. (6) Delayed myelination of the white matter. (7) No significant disorganisation of brain architecture and no severe corpus callosum defect. (orig.) With 3 figs., 2 tabs., 13 refs.

  3. Apolipoprotein E and presenilin-1 genotypes in Huntington's disease.

    Science.gov (United States)

    Panas, M; Avramopoulos, D; Karadima, G; Petersen, M B; Vassilopoulos, D

    1999-07-01

    Huntington's disease (HD) is an autosomal dominant degenerative disease of the central nervous system manifested by involuntary movements (chorea), psychiatric manifestations, and cognitive impairment with a variable age at onset. This variability is mainly attributed to genetic factors. The so-called aging genes [e.g., those for apolipoprotein E (APOE) and presenilin-1 (PS-1) have been implicated in determining the age at onset of Alzheimer's disease, a disease sharing common clinical features with HD. In 60 unrelated patients suffering from HD (mean age at onset 40.1 years, range 20-65) we determined number of CAG repeats and the distribution of the APOE alleles (epsilon2, epsilon3, epsilon4) and PS-1 alleles. The results showed that: (a) The age at onset was higher in the group of patients with the epsilon4 allele (51.6 vs. 38.0 P<0.002), (b) The correlation between the age at onset and the number of CAG repeats was strong in patients with the epsilon3/epsilon3 genotype while it was not detected in patients with epsilon3/epsilon4 genotype. (c) No correlation was found between age at onset and PS-1 alleles. In conclusion, APOE seems to be a significant factor influencing the age at onset of Huntington's disease.

  4. MR findings in pontocerebellar hypoplasia

    International Nuclear Information System (INIS)

    Uhl, M.; Pawlik, H.; Laubenberger, J.; Langer, M.; Darge, K.; Baborie, A.; Korinthenberg, R.

    1998-01-01

    We present four cases with combined hypoplasia of the cerebellum and the ventral pons - pontocerebellar hypoplasia (PCH). PCH represents an autosomal recessive neurodegenerative disorder with fetal onset. The disease is rare, with less than 20 cases having been reported. The main findings of PCH and the inclusion criteria for our cases can be summarised as progressive microcephaly from birth, pontocerebellar hypoplasia documented by MRI and marked chorea, which may change, later in childhood, to more dystonic patterns. The cerebral cortex becomes progressively atrophic. Motor and mental development are delayed, and epilepsy, mainly tonic-clonic seizures, is frequent. The MRI features in all of our cases were: (1) Hypoplastic cerebellum situated close to the tentorium. The hypoplastic cerebellum has a reduced number of folia, in contrast to the normal number of thin folia in simple cerebellar atrophy. (2) The cerebellar hemispheres are reduced to bean-like or wing-like structures. The cerebellar hemispheres appear to 'float' in the posterior fossa. (3) Markedly hypoplastic ventral pons. (4) Slight atrophy of the supratentorial gyral pattern. (5) Dilated cerebromedullary cistern and fourth ventricle. (6) Delayed myelination of the white matter. (7) No significant disorganisation of brain architecture and no severe corpus callosum defect. (orig.)

  5. Neuroacanthocytosis: A Case Report

    Directory of Open Access Journals (Sweden)

    Mustafa Yılmaz

    2006-02-01

    Full Text Available The patient who had been treated symptomatically with the diagnosis of Huntington Disease was hospitalized in our clinic, got the diagnosis of neuroacanthocytosis with clinical findings and laboratory investigations was discussed in comparison with the literature. A 37-years-old male patient had speech disorder, gait disturbance and involuntary movements in face, neck, thrunk and extremities since 6 years duration. The patient has described an increment with all of his complaints over the last 2 years and neurological examination revealed facial tics, orofacial dyskinesia, choreiform movements in the distal parts of the extremities and dystonia in neck, thrunk and right leg. The patient had five generalized tonic clonic seizure at the last 2 years but he didn’t use any antiepileptic drugs. There was not any finding at cranial MRI. Presence of acanthocytosis at the peripheral blood, decrease of deep tendon reflexes, axonal peripheral neuropathy in electromyography, and increase in the levels of creatine phosphokinase in blood made us to leave the diagnosis of Huntington Disease. Neuroacanthocytosis must be remembered especially in the young adults with involuntary movements like chorea and dystonia in the differential diagnosis of Huntington Disease and must be investigated clinically and with laboratory in details

  6. [The human meaning of life].

    Science.gov (United States)

    Lejeune, J

    1989-01-01

    Technical development has produced a curious phenomenon, the ebbing of the moral imperative of reproduction. After 2000 years of fight against diseases and death, the respect for life has declined threatening the destruction of Western civilization and family by destroying unborn babies via abortion. Artificial in vitro experimentation can potentially lead to elimination of very young, old, or sick people. Dr. Bernard Nathanson in his book "Aborting America" called abortion infanticide, one of the most abominable crimes. The beginning of life start at conception as shown by recent extra-corporal, in vitro fertilization resulting in a viable fetus, as in the case of Luisa Brown who was conceived in a tube by Drs. Edwards' and Steptoe's technique. The creation of human embryo banks and experimentation on human embryos amount to biological pronography. Respect for the human species and reproduction should manifest itself in the fight against sterility and genetic diseases, such as muscular dystrophy, hemophilia, Down's syndrome, and Huntington's chorea. The fight against AIDS and the elimination of the risk of contracting it by contaminated blood is also a medical priority. In the end, the question still remains: can science itself save the world without moral imperatives, is not the dilemma of Faust and the vileness of Mephistopheles conjured with the nuclear experience and human experimentation.

  7. Dopamine imbalance in Huntington's Disease: a mechanism for the lack of behavioral flexibility

    Directory of Open Access Journals (Sweden)

    Jane Y Chen

    2013-07-01

    Full Text Available Dopamine (DA plays an essential role in the control of coordinated movements. Alterations in DA balance in the striatum lead to pathological conditions such as Parkinson’s and Huntington’s diseases (HD. HD is a progressive, invariably fatal neurodegenerative disease caused by a genetic mutation producing an expansion of glutamine repeats and is characterized by abnormal dance-like movements (chorea. The principal pathology is the loss of striatal and cortical projection neurons. Changes in brain DA content and receptor number contribute to abnormal movements and cognitive deficits in HD. In particular, during the early hyperkinetic stage of HD, DA levels are increased whereas expression of DA receptors is reduced. In contrast, in the late akinetic stage, DA levels are significantly decreased and resemble those of a Parkinsonian state. Time-dependent changes in DA transmission parallel biphasic changes in glutamate synaptic transmission and may enhance alterations in glutamate receptor-mediated synaptic activity. In this review, we focus on neuronal electrophysiological mechanisms that may lead to some of the motor and cognitive symptoms of HD and how they relate to dysfunction in DA neurotransmission. Based on clinical and experimental findings, we propose that some of the behavioral alterations in HD, including reduced behavioral flexibility, may be caused by altered DA modulatory function. Thus, restoring DA balance alone or in conjunction with glutamate receptor antagonists could be a viable therapeutic approach.

  8. Relationship between obsessive-compulsive disorders and diseases affecting primarily the basal ganglia Relação entre transtorno obsessivo-compulsivo e doenças neurológicas dos gânglios da base

    Directory of Open Access Journals (Sweden)

    Alex S. S. Freire Maia

    1999-12-01

    Full Text Available Obsessive-compulsive disorder (OCD has been reported in association with some neurological diseases that affect the basal ganglia such as Tourette's syndrome, Sydenham's chorea, Parkinson's disease, and Huntington's disease. Furthermore, studies such as neuroimaging, suggest a role of the basal ganglia in the pathophysiology of OCD. The aim of this paper is to describe the association of OCD and several neurologic disorders affecting the basal ganglia, report the existing evidences of the role of the basal ganglia in the pathophysiology of OCD, and analyze the mechanisms probably involved in this pathophysiology.O transtorno obsessivo-compulsivo (TOC tem sido reportado em associação com algumas doenças neurológicas que afetam primariamente os gânglios da base como a síndrome de Tourette , a coréia de Sydenham, a doença de Parkinson e a doença de Huntington. Da mesma forma, estudos de neuroimagem sugerem a participação dos gânglios da base na fisiopatologia do TOC. O objetivo deste estudo é rever a coexistência de TOC e várias doenças que afetam os gânglios da base, as evidências da participação dessas estruturas na fisiopatologia do TOC e os mecanismos neurais subjacentes a esse distúrbio psiquiátrico.

  9. Infection-triggered anorexia nervosa in children: clinical description of four cases.

    Science.gov (United States)

    Sokol, M S

    2000-01-01

    Anorexia nervosa (AN) is a serious illness with no definitive treatment. Clinical and research evidence led to the hypothesis that some children with AN may have a pediatric autoimmune neuropsychiatric disorder associated with streptococcus (PANDAS), similar in pathogenesis to other hypothesized PANDAS disorders. Four youngsters (ages, 11-15 years) with PANDAS AN were treated with an open trial of antibiotics, in addition to conventional treatment. They were evaluated for eating disorder and obsessive-compulsive symptoms, and for weight gain. Evidence of streptococcal infection came from clinical evaluation, throat cultures, and two serological tests: anti-deoxyribonuclease B (anti-DNase B) and anti-streptolysin O (ASO) titers. The "rheumatic" marker D8/17 was also measured. This B-cell alloantigen is associated, in several publications, with poststreptococcal autoimmunity: Rheumatic fever (RF), Sydenham's chorea (SC), and possibly PANDAS obsessive compulsive disorder (OCD) and tic disorders. There was clinical evidence of possible antecedent streptococcal infection in all four patients, two of whom had comorbid OCD, with possible infection-triggered AN. All four had the rheumatic marker: A percentage of D8/17-positive B cells of 28-38%, with a mean of 33% (12% or more is considered positive for the marker). The patients responded to conventional treatment plus antibiotics with weight restoration and decreased eating disorder and obsessive-compulsive symptoms. Three needed to gain weight and did so. There may be a link between infectious disease and some cases of AN, which raises the possibility of new treatment.

  10. Systematic review: efficacy and safety of medical marijuana in selected neurologic disorders: report of the Guideline Development Subcommittee of the American Academy of Neurology.

    Science.gov (United States)

    Koppel, Barbara S; Brust, John C M; Fife, Terry; Bronstein, Jeff; Youssof, Sarah; Gronseth, Gary; Gloss, David

    2014-04-29

    To determine the efficacy of medical marijuana in several neurologic conditions. We performed a systematic review of medical marijuana (1948-November 2013) to address treatment of symptoms of multiple sclerosis (MS), epilepsy, and movement disorders. We graded the studies according to the American Academy of Neurology classification scheme for therapeutic articles. Thirty-four studies met inclusion criteria; 8 were rated as Class I. The following were studied in patients with MS: (1) Spasticity: oral cannabis extract (OCE) is effective, and nabiximols and tetrahydrocannabinol (THC) are probably effective, for reducing patient-centered measures; it is possible both OCE and THC are effective for reducing both patient-centered and objective measures at 1 year. (2) Central pain or painful spasms (including spasticity-related pain, excluding neuropathic pain): OCE is effective; THC and nabiximols are probably effective. (3) Urinary dysfunction: nabiximols is probably effective for reducing bladder voids/day; THC and OCE are probably ineffective for reducing bladder complaints. (4) Tremor: THC and OCE are probably ineffective; nabiximols is possibly ineffective. (5) Other neurologic conditions: OCE is probably ineffective for treating levodopa-induced dyskinesias in patients with Parkinson disease. Oral cannabinoids are of unknown efficacy in non-chorea-related symptoms of Huntington disease, Tourette syndrome, cervical dystonia, and epilepsy. The risks and benefits of medical marijuana should be weighed carefully. Risk of serious adverse psychopathologic effects was nearly 1%. Comparative effectiveness of medical marijuana vs other therapies is unknown for these indications.

  11. The nature, consequences, and management of neurological disorders in chronic kidney disease.

    Science.gov (United States)

    Jabbari, Bahman; Vaziri, Nosratola D

    2018-04-01

    Perhaps no other organ in the body is affected as often and in as many ways as the brain is in patients with chronic kidney disease (CKD). Several factors contribute to the neurological disorders in CKD including accumulation of uremic toxins, metabolic and hemodynamic disorders, oxidative stress, inflammation, and impaired blood brain barrier among others. The neurological disorders in CKD involve both peripheral and central nervous system. The peripheral neurological symptoms of CKD are due to somatic and cranial peripheral neuropathies as well as a myopathy. The central neurological symptoms of CKD are due to the cortical predominantly cortical, or subcortical lesions. Cognitive decline, encephalopathy, cortical myoclonus, asterixis and epileptic seizures are distinct features of the cortical disorders of CKD. Diffuse white matter disease due to ischemia and hypoxia may be an important cause of subcortical encephalopathy. A special and more benign form of subcortical disorder caused by brain edema in CKD is termed posterior reversible encephalopathy. Subcortical pathology especially when it affects the basal ganglia causes a number of movement disorders including Parkinsonism, chorea and dystonia. A stimulus-sensitive reflex myoclonus is believed to originate from the medullary structures. Sleep disorder and restless leg syndrome are common in CKD and have both central and peripheral origin. This article provides an overview of the available data on the nature, prevalence, pathophysiology, consequences and treatment of neurological complications of CKD. © 2017 International Society for Hemodialysis.

  12. A conserved function in phosphatidylinositol metabolism for mammalian Vps13 family proteins.

    Directory of Open Access Journals (Sweden)

    Jae-Sook Park

    Full Text Available The Vps13 protein family is highly conserved in eukaryotic cells. In humans, mutations in the gene encoding the family member VPS13A lead to the neurodegenerative disorder chorea-acanthocytosis. In the yeast Saccharomyces cerevisiae, there is just a single version of VPS13, thereby simplifying the task of unraveling its molecular function(s. While VPS13 was originally identified in yeast by its role in vacuolar sorting, recent studies have revealed a completely different function for VPS13 in sporulation, where VPS13 regulates phosphatidylinositol-4-phosphate (PtdIns(4P levels in the prospore membrane. This discovery raises the possibility that the disease phenotype associated with vps13A mutants in humans is due to misregulation of PtdIns(4P in membranes. To determine whether VPS13A affects PtdIns(4P in membranes from mammalian neuronal cells, phosphatidylinositol phosphate pools were compared in PC12 tissue culture cells in the absence or presence of VPS13A. Consistent with the yeast results, the localization of PtdIns(4P is specifically altered in VPS13A knockdown cells while other phosphatidylinositol phosphates appear unaffected. In addition, VPS13A is necessary to prevent the premature degeneration of neurites that develop in response to Nerve Growth Factor. The regulation of PtdIns(4P is therefore a conserved function of the Vps13 family and may play a role in the maintenance of neuronal processes in mammals.

  13. Selection and ranking of patient video cases in paediatric neurology in relation to learner levels.

    Science.gov (United States)

    Balslev, Thomas; Muijtjens, Arno M M; Maarbjerg, Sabine Frølich; de Grave, Willem

    2018-05-01

    Teaching and learning with patient video cases may add authenticity, enhance diagnostic accuracy and improve chances of early diagnosis. The aim of this study is firstly to identify selection criteria for key Patient video cases (PVCs), secondly to identify trends in relevance of PVCs for learner levels and thirdly, to rank PVCs for learner levels. Based on a literature review, we identified criteria for key PVCs for use in paediatric neurology. We then performed a multi-round Delphi analysis to obtain agreement between 28 expert clinician teachers concerning key PVCs for four learner levels. We identified two major criteria: key PVCs should demonstrate key movements, and these movements should be subtle and/or difficult to note. The expert clinician teachers subsequently assessed a list of 14 topics for key PVCs. We found a clear, increasing trend in relevance scores, from medical students to young residents to experienced residents and specialists. For medical students and residents, epileptic spasms, Down syndrome, developmental delay, cerebral palsy and absence epilepsy were highly ranked. For specialists, conditions like chorea, focal seizures or eye movement disorders topped the ranking list, although ranking was less clear for this group of advanced learners. Key PVCs should demonstrate movements that are difficult to note for learners. Ranked lists of key PVCs for teaching and learning at different learner levels are now available and may help institutions build validated local libraries of PVCs. Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  14. A clinical study of Gilles de la Tourette syndrome in the United Kingdom.

    Science.gov (United States)

    Lees, A J; Robertson, M; Trimble, M R; Murray, N M

    1984-01-01

    The clinical features of 53 British-born patients with Gilles de la Tourette syndrome are described. The mean age at onset of body tics was seven years and for vocalisations 11 years. Coprolalia was present in 39%, copropraxia in 21%, echolalia in 46% and echopraxia in 21%. Complicated antics and mannerisms were also common, often involving the compulsive touching of objects or self-injurious behaviour. Forty-six per cent of cases had a family history of tics in a single close relative and in two individuals a further member of the family had Gilles de la Tourette syndrome. Focal dystonia was present in four patients who had never received neuroleptics drugs and chorea was seen in two other untreated patients. In three patients acoustic startle consistently induced brief eye blink followed by a whole body jerk or jump. Rapid repetitive movements of the hands increased the frequency and severity of tics in 13 patients, but the performance of mental arithmetic under time pressure had a much more unpredictable effect. Electroencephalographic abnormalities occurred in eight (13%) but no definite CT brain scan abnormalities were detected. The incidence of left handedness did not differ from that in the general population and no evidence to suggest organic impairment was found on neuropsychological testing. This study provides no support for the notion that Gilles de la Tourette syndrome is a degenerative disorder of the central nervous system but provides some evidence for heterogeneity. PMID:6582230

  15. Positron emission tomography in neuropsychology.

    Science.gov (United States)

    Heiss, W D; Herholz, K; Pawlik, G; Wagner, R; Wienhard, K

    1986-01-01

    By positron emission tomography (PET) of 18F-2-fluoro-2-deoxy-D-glucose (FDG) local cerebral metabolic rate for glucose (LCMRGl) can be measured in man. Normal values in cerebral cortex and basal ganglia range from 35 to 50 mumol/100 g/min, the values in gray matter structures of the posterior fossa were 25-30 mumol/100 g/min, the lowest LCMRGl was found in the white matter (15-20 mumol/100 g/min). During sensory stimulation by various modalities functional activation increases LCMRGl in the respective special areas, while sleep decreases metabolic rate in all cortical and basal gray matter structures. In many neurological disorders CMRGl is altered in a disease-specific pattern. In dementia of the Alzheimer type CMRGl is impaired even in early stages with accentuation in the parieto-temporal cortex, while in multi-infarct dementia glucose uptake is mainly reduced in the multifocal small infarcts. In Huntington's chorea the most conspicuous changes are found in the caudate nucleus and putamen. In cases of focal lesions (e.g. ischemic infarcts) metabolic disturbances extend far beyond the site of the primary lesion and inactivation of metabolism is found in intact brain structures far away from the anatomical lesion. Additional applications of PET include determination of the metabolism of various substrates, of protein synthesis, of function and distribution of receptors, of tumor growth and of the distribution of drugs as well as the measurement of oxygen consumption, blood flow and blood volume.

  16. A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.

    Science.gov (United States)

    Blackburn, Patrick R; Zimmermann, Michael T; Gass, Jennifer M; Harris, Kimberly G; Cousin, Margot A; Boczek, Nicole J; Ross, Owen A; Klee, Eric W; Brazis, Paul W; Van Gerpen, Jay A; Atwal, Paldeep S

    2016-12-05

    Cervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); however the heterogeneity of disease presentation does not always make it easy to categorize the disease by phenotype-genotype comparison. In this report, we describe a 53-year-old female who presented initially with hand tremor following a total hip arthroplasty. The patient developed a mixed hyperkinetic disorder consisting of chorea, dystonia affecting the upper extremities, dysarthria, and blepharospasm. Whole exome sequencing of the patient revealed a novel heterozygous missense variant (Chr11(GRCh38): g.26525644C > G; NM_031418.2(ANO3): c.702C > G; NP_113606.2. p.C234W) in exon 7 in the ANO3 gene. ANO3 encodes anoctamin-3, a Ca +2 -dependent phospholipid scramblase expressed in striatal-neurons, that has been implicated in autosomal dominant craniocervical dystonia (Dystonia-24, DYT24, MIM# 615034). To date, only a handful of cases of DYT-24 have been described in the literature. The complex clinical presentation of the patient described includes hyperkinesias, complex motor movements, and vocal tics, which have not been reported in other patients with DYT24. This report highlights the utility of using clinical whole exome sequencing in patients with complex neurological phenotypes that would not normally fit a classical presentation of a defined genetic disease.

  17. Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion.

    Science.gov (United States)

    Koutsis, G; Karadima, G; Pandraud, A; Sweeney, M G; Paudel, R; Houlden, H; Wood, N W; Panas, M

    2012-09-01

    Huntington’s disease (HD) is an autosomal dominant disorder characterized by a triad of chorea, psychiatric disturbance and cognitive decline. Around 1% of patients with HD-like symptoms lack the causative HD expansion and are considered HD phenocopies. Genetic diseases that can present as HD phenocopies include HD-like syndromes such as HDL1, HDL2 and HDL4 (SCA17), some spinocerebellar ataxias (SCAs) and dentatorubral-pallidoluysian atrophy (DRPLA). In this study we screened a cohort of 21 Greek patients with HD phenocopy syndromes formutations causing HDL2, SCA17, SCA1, SCA2, SCA3,SCA8, SCA12 and DRPLA. Fifteen patients (71%) had a positive family history. We identified one patient (4.8% of the total cohort) with an expansion of 81 combined CTA/CTG repeats at the SCA8 locus. This falls within what is believed to be the high-penetrance allele range. In addition to the classic HD triad, the patient had features of dystonia and oculomotor apraxia. There were no cases of HDL2, SCA17, SCA1, SCA2, SCA3, SCA12 or DRPLA. Given the controversy surrounding the SCA8 expansion, the present finding may be incidental. However, if pathogenic, it broadens the phenotype that may be associated with SCA8 expansions. The absence of any other mutations in our cohort is not surprising, given the low probability of reaching a genetic diagnosis in HD phenocopy patients.

  18. O perfil da antiestreptolisina O no diagnóstico da febre reumática aguda Antistreptolysin O titer profile in acute rheumatic fever diagnosis

    Directory of Open Access Journals (Sweden)

    Claudia Saad Magalhães Machado

    2001-04-01

    Full Text Available OBJETIVO: estabelecer o perfil dos títulos de ASO, mediante o diagnóstico diferencial da FRA com outras afecções que também cursam com níveis elevados de ASO. MÉTODOS: foram estudados 78 casos de FRA na apresentação e seguimento, 22 de coréia isolada, 45 de infecções orofaringeanas recorrentes (IOR e 23 de artrites idiopáticas juvenis (AIJ, com início ou reativação recente. A determinação seqüencial de ASO (UI/ml foi realizada por ensaio nefelométrico automatizado (Behring®-Germany nos períodos de 0-7 dias, 1-2 semanas, 2-4 semanas, 1-2 meses, 2-4 meses, 4-6 meses, 6-12 meses, 1-2 anos, 2-3 anos, 3-4 anos e 4-5 anos após o diagnóstico. RESULTADOS: os títulos de ASO na fase aguda da FRA apresentaram elevação significante até o intervalo de 2- 4 meses (p 960 UI/ml. CONCLUSÃO: esta reavaliação do perfil da ASO indicou uma resposta exuberante na fase aguda da febre reumática indicou ainda que os seus níveis séricos podem diferenciá-la de outras afecções que também cursam com níveis elevados de ASO, como as infecções orofaringeanas recorrentes ou as artrites idiopáticas juvenis em atividade.OBJECTIVE: to determine ASO titer profile by establishing ARF differential diagnoses of other diseases with high levels of ASO antibodies. METHODS: we investigated 78 patients with ARF at onset and follow-up, 22 with isolated chorea at onset, 45 with recurrent oropharyngeal tonsillitis, and 23 with recent flare of juvenile idiopathic arthritis. We tested ASO with automated particle-enhanced immunonephelometric assay (Behring®-Germany. The ASO (IU/ml titers were assessed at the following time intervals: 0-7 days, 1-2 weeks, 2-4 weeks, 1-2 months, 2-4 months, 4-6 months, 6-12 months, 1-2 years, 2-3 years, 3-4 years, and 4-5 years after onset of ARF. RESULTS: ASO titers in patients diagnosed with ARF had a significant increase up to the 2-4-month time interval (P < 0.0001. Baseline levels were observed afterwards in patients

  19. Polycythemia vera presenting with left hemichoreiform movements

    International Nuclear Information System (INIS)

    Mori, Tamiharu; Shimomura, Chikako; Ishibashi, Hiroshi; Tsujihata, Mitsuhiro; Nagataki, Shigenobu.

    1985-01-01

    A 65-year-old man developed abruptly choreiform movements involving the left face, arm and leg one day prior to admission. Physical examination revealed red face and palms, hyperemic conjunctivae and atrial fibrillations. Blood pressure was 168/90. Spleen was not palpable. Hemichoreiform movements of the left face and limbs were observed. There was no other neurological abnormalities. Laboratory studies showed RBC 880x10 4 , Hb 22.4g/dl, Hct 63%, WBC 8,100, platelets 22.9x10 4 , ESR 0mm/hr, RBC oxygen saturation 97%, serum iron 67 μg/dl, LDH 593 units, uric acid 14mg/dl, and erythropoietine (HI method) 19mIU/ml (normal 28-88). Bone marrow showed myeloid nucleated cell count 38.6x10 4 . ECG showed atrial fibrillations. Chest X-ray and scintigrams of liver and spleen were normal. CSF was normal. Brain CT scan on admission disclosed a low density area in right caudate nucleus. The choreiform movements were rapidly mitigated by venesection and by oral administration of haloperidol(3mg daily). There weeks after discontinuing haloperidol, the hemichorea returned. The routine hematology showed RBC 870x10 4 , Hb 19.8g/dl, Hct 62%, WBC 10,200, and plateret 37.4x10 4 . Another venesection reduced the chorea. Pipobroman was administered to control the polycythemia vera. He has been free of choreic movements thereafter. Choreiform movement is rarely observed in polycythemia vera. The pathogenesis is still unknown. The venous congestion, however, may play a role in this case because the choreic movements disappeared by venesection. (author)

  20. Polycythemia vera presenting with left hemichoreiform movements. A case report

    Energy Technology Data Exchange (ETDEWEB)

    Mori, Tamiharu; Shimomura, Chikako; Ishibashi, Hiroshi; Tsujihata, Mitsuhiro; Nagataki, Shigenobu

    1985-01-01

    A 65-year-old man developed abruptly choreiform movements involving the left face, arm and leg one day prior to admission. Physical examination revealed red face and palms, hyperemic conjunctivae and atrial fibrillations. Blood pressure was 168/90. Spleen was not palpable. Hemichoreiform movements of the left face and limbs were observed. There was no other neurological abnormalities. Laboratory studies showed RBC 880 x 10U, Hb 22.4g/dl, Hct 63%, WBC 8,100, platelets 22.9 x 10U, ESR 0mm/hr, RBC oxygen saturation 97%, serum iron 67 g/dl, LDH 593 units, uric acid 14mg/dl, and erythropoietine (HI method) 19mIU/ml (normal 28-88). Bone marrow showed myeloid nucleated cell count 38.6 x 10U. ECG showed atrial fibrillations. Chest X-ray and scintigrams of liver and spleen were normal. CSF was normal. Brain CT scan on admission disclosed a low density area in right caudate nucleus. The choreiform movements were rapidly mitigated by venesection and by oral administration of haloperidol(3mg daily). There weeks after discontinuing haloperidol, the hemichorea returned. The routine hematology showed RBC 870 x 10U, Hb 19.8g/dl, Hct 62%, WBC 10,200, and plateret 37.4 x 10U. Another venesection reduced the chorea. Pipobroman was administered to control the polycythemia vera. He has been free of choreic movements thereafter. Choreiform movement is rarely observed in polycythemia vera. The pathogenesis is still unknown. The venous congestion, however, may play a role in this case because the choreic movements disappeared by venesection. (author).

  1. The social and economic origins of genetic determinism: a case history of the American Eugenics Movement, 1900-1940 and its lessons for today.

    Science.gov (United States)

    Allen, G E

    1997-01-01

    Eugenics, the attempt to improve the genetic quality of the human species by 'better breeding', developed as a worldwide movement between 1900 and 1940. It was particularly prominent in the United States, Britain and Germany, and in those countries was based on the then-new science of Mendelian genetics. Eugenicists developed research programs to determine the degree in which traits such as Huntington's chorea, blindness, deafness, mental retardation (feeblemindedness), intelligence, alcoholism, schizophrenia, manic depression, rebelliousness, nomadism, prostitution and feeble inhibition were genetically determined. Eugenicists were also active in the political arena, lobbying in the United States for immigration restriction and compulsory sterilization laws for those deemed genetically unfit; in Britain they lobbied for incarceration of genetically unfit and in Germany for sterilization and eventually euthanasia. In all these countries one of the major arguments was that of efficiency: that it was inefficient to allow genetic defects to be multiplied and then have to try and deal with the consequences of state care for the offspring. National socialists called genetically defective individuals 'useless eaters' and argued for sterilization or euthanasia on economic grounds. Similar arguments appeared in the United States and Britain as well. At the present time (1997) much research and publicity is being given to claims about a genetic basis for all the same behaviors (alcoholism, manic depression, etc.), again in an economic context--care for people with such diseases is costing too much. There is an important lesson to learn from the past: genetic arguments are put forward to mask the true--social and economic--causes of human behavioral defects.

  2. Cross-cutting issues and future directions for the OCD spectrum.

    Science.gov (United States)

    Hollander, Eric; Kim, Suah; Braun, Ashley; Simeon, Daphne; Zohar, Joseph

    2009-11-30

    The research planning agenda for DSM-V examined possible similarities in phenomenology, comorbidity, familial and genetic features, brain circuitry, and treatment response between obsessive-compulsive disorder (OCD) and several related disorders that are characterized by repetitive thoughts or behaviors. Such data support a re-examination of the DSM-IV-TR classification of OCD and the anxiety disorders, with possible inclusion of a group of obsessive-compulsive spectrum disorders (OCSDs) in DSM-V. Various disorders were systematically examined for inclusion in such a grouping, and later a smaller number were determined to meet threshold criteria for inclusion in the OCSDs. The disorders that were originally examined included OCD, obsessive-compulsive personality disorder (OCPD), Tourette's syndrome (TS) and other tic disorders, Sydenham's chorea, Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS), trichotillomania (TTM), body dysmorphic disorder (BDD), autism, eating disorders, Huntington's and Parkinson's disease, impulse control disorders, as well as substance and behavioral addictions. Certain disorders such as BDD, OCPD, TS, and TTM share many commonalities with OCD in phenomenology, comorbidity, familial and genetic features, brain circuitry, and treatment response. Other disorders, such as the impulse control disorders (ICDs) share some common features with OCD, but also differ in many ways as well. The articles presented in this issue of Psychiatry Research are a result of this international collaboration, which examined diagnostic and classification issues of OCSDs for DSM-V in a conference titled "The Future of Psychiatric Diagnosis: Refining the Research Agenda: Obsessive-Compulsive Behavior Spectrum" held in June 2006 at the American Psychiatric Association's headquarters in Arlington, VA.

  3. Wilson's disease: two treatment modalities. Correlations to pretreatment and posttreatment brain MRI

    Energy Technology Data Exchange (ETDEWEB)

    Leiros da Costa, Maria do Desterro [Federal University of Paraiba, Movement Disorders Unit, Paraiba (Brazil); Spitz, Mariana; Bacheschi, Luiz Alberto; Barbosa, Egberto Reis [University of Sao Paulo, Movement Disorders Unit, Sao Paulo (Brazil); Leite, Claudia Costa; Lucato, Leandro Tavares [University of Sao Paulo, Department of Radiology, Sao Paulo (Brazil)

    2009-10-15

    Brain magnetic resonance imaging (MRI) studies on Wilson's disease (WD) show lack of correlations between neurological and neuroimaging features. Long-term follow-up reports with sequential brain MRI in patients with neurological WD comparing different modalities of treatment are scarce. Eighteen patients with neurological WD underwent pretreatment and posttreatment brain MRI scans to evaluate the range of abnormalities and the evolution along these different periods. All patients underwent at least two MRI scans at different intervals, up to 11 years after the beginning of treatment. MRI findings were correlated with clinical picture, clinical severity, duration of neurological symptoms, and treatment with two different drugs. Patients were divided into two groups according to treatment: d-penicillamine (D-P), zinc (Zn), and Zn after the onset of severe intolerance to D-P. MRI scans before treatment showed, in all patients, hypersignal intensity lesions on T2- and proton-density-weighted images bilaterally and symmetrically at basal nuclei, thalamus, brain stem, cerebellum, brain cortex, and brain white matter. The most common neurological symptoms were: dysarthria, parkinsonism, dystonia, tremor, psychiatric disturbances, dysphagia, risus sardonicus, ataxia, chorea, and athetosis. From the neurological point of view, there was no difference on the evolution between the group treated exclusively with D-P and the one treated with Zn. Analysis of MRI scans with longer intervals after the beginning of treatment depicted a trend for neuroimaging worsening, without neurological correspondence, among patients treated with Zn. Neuroimaging pattern of evolution was more favorable for the group that received exclusively D-P. (orig.)

  4. Brain MR spectroscopy in children with a history of rheumatic fever with a special emphasis on neuropsychiatric complications

    International Nuclear Information System (INIS)

    Alkan, Alpay; Kutlu, Ramazan; Kocak, Gulendam; Sigirci, Ahmet; Emul, Murat; Dogan, Selda; Aslan, Mehmet; Sarac, Kaya; Yakinci, Cengiz

    2004-01-01

    Purpose: To investigate whether there are metabolite changes in basal ganglia of children with complete healing of rheumatic fever (RF), history of Syndenham chorea (SC) and obsessive compulsive-tic disorder (OCTD) developed after RF when compared with healthy controls and each other. Material and methods: A total of 49 children with history of RF and 31 healthy controls were included into the study. All patients and control group underwent a detailed neuropsychiatric evaluation. Children with the history of RF were classified into three groups as; group 1: with history of RF without neuropsychiatric complications (NCRF), group 2: only with history of SC (HSC), group 3: with HSC and OCTD (OCTD). After MR imaging, single voxel MR spectroscopy was performed in all subjects. Voxels (15x15x15 mm) were placed in basal ganglia. N-acetyl aspartate (NAA)/creatin (Cr), and choline (Cho)/Cr ratios were calculated. Results: OCTD were detected in 13 children with HSC. NAA/Cr ratio was found to be decreased in these children when compared with NCRF (n:29), HSC without OCTD (n:7) and control groups (n:31). No significant difference was found in metabolite ratios of children with HSC without OCTD when compared with NCRF and control groups. There were no significant differences in Cho/Cr ratio between patient and control groups. Conclusion: Although MR imaging findings was normal, MR spectroscopy findings (decreased NAA/Cr ratio) in our study support the neuronal loss in basal ganglia of children with OCTD and could indicate the development of permanent damage

  5. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

    Science.gov (United States)

    Sweney, Matthew T; Newcomb, Tara M; Swoboda, Kathryn J

    2015-01-01

    ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss (CAPOS) syndrome. Existing literature on ATP1A3-related disorders in the pediatric population were reviewed, with attention to clinical features and associated genotypes among those with RDP, AHC, or CAPOS syndrome phenotypes. While classically defined phenotypes associated with AHC, RDP, and CAPOS syndromes are distinct, common elements among ATP1A3-related neurological disorders include characteristic episodic neurological symptoms and signs that vary in severity, duration, and frequency of occurrence. Affected children typically present in the context of an acute onset of paroxysmal, episodic neurological symptoms ranging from oculomotor abnormalities, hypotonia, paralysis, dystonia, ataxia, seizure-like episodes, or encephalopathy. Neurodevelopmental delays or persistence of dystonia, chorea, or ataxia after resolution of an initial episode are common, providing important clues for diagnosis. The phenotypic spectrum of ATP1A3-related neurological disorders continues to expand beyond the distinct yet overlapping phenotypes in patients with AHC, RDP, and CAPOS syndromes. ATP1A3 mutation analysis is appropriate to consider in the diagnostic algorithm for any child presenting with episodic or fluctuating ataxia, weakness or dystonia whether they manifest persistence of neurological symptoms between episodes. Additional work is needed to better identify and classify affected patients and develop targeted treatment approaches. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. Wilson's disease: two treatment modalities. Correlations to pretreatment and posttreatment brain MRI

    International Nuclear Information System (INIS)

    Leiros da Costa, Maria do Desterro; Spitz, Mariana; Bacheschi, Luiz Alberto; Barbosa, Egberto Reis; Leite, Claudia Costa; Lucato, Leandro Tavares

    2009-01-01

    Brain magnetic resonance imaging (MRI) studies on Wilson's disease (WD) show lack of correlations between neurological and neuroimaging features. Long-term follow-up reports with sequential brain MRI in patients with neurological WD comparing different modalities of treatment are scarce. Eighteen patients with neurological WD underwent pretreatment and posttreatment brain MRI scans to evaluate the range of abnormalities and the evolution along these different periods. All patients underwent at least two MRI scans at different intervals, up to 11 years after the beginning of treatment. MRI findings were correlated with clinical picture, clinical severity, duration of neurological symptoms, and treatment with two different drugs. Patients were divided into two groups according to treatment: d-penicillamine (D-P), zinc (Zn), and Zn after the onset of severe intolerance to D-P. MRI scans before treatment showed, in all patients, hypersignal intensity lesions on T2- and proton-density-weighted images bilaterally and symmetrically at basal nuclei, thalamus, brain stem, cerebellum, brain cortex, and brain white matter. The most common neurological symptoms were: dysarthria, parkinsonism, dystonia, tremor, psychiatric disturbances, dysphagia, risus sardonicus, ataxia, chorea, and athetosis. From the neurological point of view, there was no difference on the evolution between the group treated exclusively with D-P and the one treated with Zn. Analysis of MRI scans with longer intervals after the beginning of treatment depicted a trend for neuroimaging worsening, without neurological correspondence, among patients treated with Zn. Neuroimaging pattern of evolution was more favorable for the group that received exclusively D-P. (orig.)

  7. In vivo evaluation of [11C]-3-[2-[(3-methoxyphenylamino)carbonyl]ethenyl]-4,6-dichloroindole- 2-carboxylic acid ([11C]3MPICA) as a PET radiotracer for the glycine site of the NMDA ion channel

    International Nuclear Information System (INIS)

    Waterhouse, Rikki N.; Sultana, Abida; Laruelle, M.

    2002-01-01

    Alterations in normal NMDA receptor composition, densities and function have been implicated in the pathophysiology of certain neurological and neuropsychiatric disorders such as Parkinson's Disease, Huntington's Chorea, schizophrenia, alcoholism and stroke. In our first effort to provide PET ligands for the NMDA/glycine site, we reported the synthesis of a novel high affinity glycine site ligand, 3-[2-[(3-methoxyphenylamino)carbonyl]ethenyl]-4,6-dichloroindole-2 -carboxylic acid ((3MPICA), Ki=4.8±0.9 nM) and the corresponding carbon-11 labeled PET ligand, [ 11 C]3MPICA. We report here the in vivo evaluation of [ 11 C]3MPICA in rats. Biodistribution analysis revealed that [ 11 C]3MPICA exhibited low degree of brain penetration and high blood concentration. The average uptake at two minutes was highest in the cerebellum (0.19±0.04 %ID/g) and thalamus (0.18±0.05 %ID/g) and lower in the hippocampus (0.13±0.03) and frontal cortex (0.11±0.04 %ID/g). The radioactivity cleared quickly from all brain regions examined. Administration of unlabeled 3MPICA (1 mg/kg, i.v.) revealed at 60 minutes a small general reduction in regional brain radioactivity concentrations in treated animals versus controls, however, the blood radioactivity concentration was also lowered, confounding the assessment of the degree of saturable binding. Warfarin co-administration (100 mg/kg, i.v.) significantly lowered blood activity at 5 minutes post-injection (-27%, P 11 C]3MPICA does not appear to be a promising PET radiotracer for in vivo use

  8. Recognizing Uncommon Presentations of Psychogenic (Functional Movement Disorders

    Directory of Open Access Journals (Sweden)

    José Fidel Baizabal-Carvallo

    2015-01-01

    Full Text Available Background: Psychogenic or functional movement disorders (PMDs pose a challenge in clinical diagnosis. There are several clues, including sudden onset, incongruous symptoms, distractibility, suggestibility, entrainment of symptoms, and lack of response to otherwise effective pharmacological therapies, that help identify the most common psychogenic movements such as tremor, dystonia, and myoclonus.Methods: In this manuscript, we review the frequency, distinct clinical features, functional imaging, and neurophysiological tests that can help in the diagnosis of uncommon presentations of PMDs, such as psychogenic parkinsonism, tics, and chorea; facial, palatal, and ocular movements are also reviewed. In addition, we discuss PMDs at the extremes of age and mass psychogenic illness.Results: Psychogenic parkinsonism (PP is observed in less than 10% of the case series about PMDs, with a female–male ratio of roughly 1:1. Lack of amplitude decrement in repetitive movements and of cogwheel rigidity help to differentiate PP from true parkinsonism. Dopamine transporter imaging with photon emission tomography can also help in the diagnostic process. Psychogenic movements resembling tics are reported in about 5% of PMD patients. Lack of transient suppressibility of abnormal movements helps to differentiate them from organic tics. Psychogenic facial movements can present with hemifacial spasm, blepharospasm, and other movements. Some patients with essential palatal tremor have been shown to be psychogenic. Convergence ocular spasm has demonstrated a high specificity for psychogenic movements. PMDs can also present in the context of mass psychogenic illness or at the extremes of age.Discussion: Clinical features and ancillary studies are helpful in the diagnosis of patients with uncommon presentations of psychogenic movement disorders.

  9. Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.

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    Balint, B; Bhatia, K P

    2015-04-01

    Recent consensus on the definition, phenomenology and classification of dystonia centres around phenomenology and guides our diagnostic approach for the heterogeneous group of dystonias. Current terminology classifies conditions where dystonia is the sole motor feature (apart from tremor) as 'isolated dystonia', while 'combined dystonia' refers to dystonias with other accompanying movement disorders. This review highlights recent advances in the genetics of some isolated and combined dystonic syndromes. Some genes, such as ANO3, GNAL and CIZ1, have been discovered for isolated dystonia, but they are probably not a common cause of classic cervical dystonia. Conversely, the phenotype associated with TUBB4A mutations expanded from that of isolated dystonia to a syndrome of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome). Similarly, ATP1A3 mutations cause a wide phenotypic spectrum ranging from rapid-onset dystonia-parkinsonism to alternating hemiplegia of childhood. Other entities entailing dystonia-parkinsonism include dopamine transporter deficiency syndrome (SLC63 mutations); dopa-responsive dystonias; young-onset parkinsonism (PARKIN, PINK1 and DJ-1 mutations); PRKRA mutations; and X-linked TAF1 mutations, which rarely can also manifest in women. Clinical and genetic heterogeneity also characterizes myoclonus-dystonia, which includes not only the classical phenotype associated with epsilon-sarcoglycan mutations but rarely also presentation of ANO3 gene mutations, TITF1 gene mutations typically underlying benign hereditary chorea, and some dopamine synthesis pathway conditions due to GCH1 and TH mutations. Thus, new genes are being recognized for isolated dystonia, and the phenotype of known genes is broadening and now involves different combined dystonia syndromes. © 2015 EAN.

  10. Glutamate as a neurotransmitter in the brain: review of physiology and pathology.

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    Meldrum, B S

    2000-04-01

    Glutamate is the principal excitatory neurotransmitter in brain. Our knowledge of the glutamatergic synapse has advanced enormously in the last 10 years, primarily through application of molecular biological techniques to the study of glutamate receptors and transporters. There are three families of ionotropic receptors with intrinsic cation permeable channels [N-methyl-D-aspartate (NMDA), alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) and kainate]. There are three groups of metabotropic, G protein-coupled glutamate receptors (mGluR) that modify neuronal and glial excitability through G protein subunits acting on membrane ion channels and second messengers such as diacylglycerol and cAMP. There are also two glial glutamate transporters and three neuronal transporters in the brain. Glutamate is the most abundant amino acid in the diet. There is no evidence for brain damage in humans resulting from dietary glutamate. A kainate analog, domoate, is sometimes ingested accidentally in blue mussels; this potent toxin causes limbic seizures, which can lead to hippocampal and related pathology and amnesia. Endogenous glutamate, by activating NMDA, AMPA or mGluR1 receptors, may contribute to the brain damage occurring acutely after status epilepticus, cerebral ischemia or traumatic brain injury. It may also contribute to chronic neurodegeneration in such disorders as amyotrophic lateral sclerosis and Huntington's chorea. In animal models of cerebral ischemia and traumatic brain injury, NMDA and AMPA receptor antagonists protect against acute brain damage and delayed behavioral deficits. Such compounds are undergoing testing in humans, but therapeutic efficacy has yet to be established. Other clinical conditions that may respond to drugs acting on glutamatergic transmission include epilepsy, amnesia, anxiety, hyperalgesia and psychosis.

  11. Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the Literature.

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    Christy, Alison; Nyhan, William; Wilson, Jenny

    2017-01-01

    Lesch-Nyhan disease (LND) is an X-linked disorder of purine metabolism, associated with self-mutilation, dystonia, and chorea. Seizures are uncommon in LND. Patients with LND are at risk for sudden and unexpected death. The etiology of this is unknown, but appears to occur from a respiratory process. We propose that respiratory failure secondary to subclinical seizure may lead to sudden death in these patients. We report a case of an 11-year-old boy with LND who had two episodes of nocturnal gasping. The second event was immediately followed by a 10 min generalized seizure. Upon arrival at the hospital, an arterial blood gas test revealed a severe respiratory acidosis. Following aggressive treatment of his seizures, this patient did well, and was discharged home on oxcarbazepine with rectal diazepam. No further seizures have been noted in 1 year of follow-up. In this case report and review, we hypothesize that sudden death from respiratory failure in Lesch-Nyhan disease may in some cases be due to seizure-induced respiratory failure, akin to sudden unexpected death in epilepsy (SUDEP). We suggest screening for paroxysmal respiratory events; consideration of electroencephalography for patients with LND presenting in respiratory distress or failure; and consideration of more aggressive treatment of seizures in these patients. Brief Summary:We present an 11-year-old boy with Lesch-Nyhan disease (LND) who developed respiratory failure and severe respiratory acidosis from his first known seizure, which evolved to subclinical status epilepticus. We propose that patients with LND have a predisposition to respiratory failure and sudden death, which in some cases may be provoked by seizure (sudden unexpected death in epilepsy, or SUDEP).

  12. Characterizing POLG ataxia: clinics, electrophysiology and imaging.

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    Synofzik, Matthis; Srulijes, Karin; Godau, Jana; Berg, Daniela; Schöls, Ludger

    2012-12-01

    Mutations in the mitochondrial DNA polymerase gamma (POLG) cause a highly pleomorphic disease spectrum, and reports about their frequencies in ataxia populations yield equivocal results. This leads to uncertainties about the role of POLG genetics in the workup of patients with unexplained ataxia. A comprehensive characterization of POLG-associated ataxia (POLG-A) will help guide genetic diagnostics and advance our understanding of the disease processes underlying POLG-A. Thirteen patients with POLG-A were assessed by standardized clinical investigation, nerve conduction studies, motor-evoked potentials, magnetic resonance imaging (MRI) and transcranial sonography (TCS). The findings were compared with 13 matched patients with Friedreich's ataxia (FA). In addition to the well-known POLG-associated features of chronic external ophthalmoplegia (100 %), areflexia to the lower extremity (100 %), impaired vibration sense (100 %), bilateral ptosis (69 %) and epilepsy (38 %), also hyperkinetic movement disorders were frequent in POLG-A patients, including chorea (31 %), dystonia (31 %) and myoclonus (23 %). Similar to FA, polyneuropathy was of sensory axonal type (100 %). In contrast to FA, none of the POLG-A patients showed impaired central motor conduction. TCS demonstrated less enlargement of the fourth ventricle and more diffuse cerebellar hyperechogenicity in POLG-A. Corresponding to TCS, MRI revealed no or only mild cerebellar atrophy in most POLG-A patients (85 %). POLG ataxia presents with the clinical characteristics of both afferent and cerebellar ataxia. Cerebellar alterations diffusely involve various parts of the cerebellum, yet cerebellar atrophy is generally mild. POLG-A presents with a high load of distinct non-ataxia features, namely, sensory neuropathy, external ophthalmoplegia, ptosis, epilepsy and/or hyperkinetic movement disorders. Involvement of the corticospinal tract, however, is rare.

  13. Brain urea increase is an early Huntington's disease pathogenic event observed in a prodromal transgenic sheep model and HD cases.

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    Handley, Renee R; Reid, Suzanne J; Brauning, Rudiger; Maclean, Paul; Mears, Emily R; Fourie, Imche; Patassini, Stefano; Cooper, Garth J S; Rudiger, Skye R; McLaughlan, Clive J; Verma, Paul J; Gusella, James F; MacDonald, Marcy E; Waldvogel, Henry J; Bawden, C Simon; Faull, Richard L M; Snell, Russell G

    2017-12-26

    The neurodegenerative disorder Huntington's disease (HD) is typically characterized by extensive loss of striatal neurons and the midlife onset of debilitating and progressive chorea, dementia, and psychological disturbance. HD is caused by a CAG repeat expansion in the Huntingtin ( HTT ) gene, translating to an elongated glutamine tract in the huntingtin protein. The pathogenic mechanism resulting in cell dysfunction and death beyond the causative mutation is not well defined. To further delineate the early molecular events in HD, we performed RNA-sequencing (RNA-seq) on striatal tissue from a cohort of 5-y-old OVT73 -line sheep expressing a human CAG-expansion HTT cDNA transgene. Our HD OVT73 sheep are a prodromal model and exhibit minimal pathology and no detectable neuronal loss. We identified significantly increased levels of the urea transporter SLC14A1 in the OVT73 striatum, along with other important osmotic regulators. Further investigation revealed elevated levels of the metabolite urea in the OVT73 striatum and cerebellum, consistent with our recently published observation of increased urea in postmortem human brain from HD cases. Extending that finding, we demonstrate that postmortem human brain urea levels are elevated in a larger cohort of HD cases, including those with low-level neuropathology (Vonsattel grade 0/1). This elevation indicates increased protein catabolism, possibly as an alternate energy source given the generalized metabolic defect in HD. Increased urea and ammonia levels due to dysregulation of the urea cycle are known to cause neurologic impairment. Taken together, our findings indicate that aberrant urea metabolism could be the primary biochemical disruption initiating neuropathogenesis in HD.

  14. Current Status of Huntington’s Disease in Korea: A Nationwide Survey and National Registry Analysis

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    Hyun Sook Kim

    2015-01-01

    Full Text Available Objective Huntington’s disease (HD is a rare neurological disorder, and its current status in Korea is not well investigated. This study aims to determine the prevalence and incidence of HD and to investigate the clinical features of HD patients in Korea. Methods We estimated the crude prevalence and annual incidence of HD based on the databases of the Rare Diseases Registry (RDR and the National Health Insurance (NHI. The clinical data of genetically confirmed HD patients was collected from 10 referral hospitals and analyzed. Results The mean calculated annual incidence was 0.06 cases per 100,000 persons, and the mean calculated prevalence was 0.38 based on the NHI database. The estimated crude prevalence based on the RDR was 0.41. Of the sixty-eight HD patients recruited, the mean age of onset was 44.16 ± 14.08 years and chorea was most frequently reported as the initial symptom and chief complaint. The mean CAG repeat number of the expanded allele was 44.7 ± 4.8 and correlated inversely with the age of onset (p < 0.001. About two-thirds of the patients have a positive family history, and HD patients without positive family history showed a delay in onset of initial symptoms, a prolonged interval between initial symptom onset and genetic diagnosis and a delay in the age of genetic diagnosis. Conclusions To the best of our knowledge, this is the first study to estimate the prevalence and incidence of HD in Korea and the largest HD series in the Asian population. Our analyses might be useful for further studies and large-scale investigations in HD patients.

  15. Effects of cyclooxygenase inhibitor pretreatment on nitric oxide production, nNOS and iNOS expression in rat cerebellum.

    Science.gov (United States)

    Di Girolamo, G; Farina, M; Riberio, M L; Ogando, D; Aisemberg, J; de los Santos, A R; Martí, M L; Franchi, A M

    2003-07-01

    1. The therapeutic effect of nonsteroidal anti-inflammatory drugs (NSAIDs) is thought to be due mainly to its inhibition of cyclooxygenase (COX) enzymes, but there is a growing body of research that now demonstrates a variety of NSAIDs effects on cellular signal transduction pathways other than those involving prostaglandins. 2. Nitric oxide (NO) as a free radical and an agent that gives rise to highly toxic oxidants (peroxynitrile, nitric dioxide, nitron ion), becomes a cause of neuronal damage and death in some brain lesions such as Parkinson and Alzheimer disease, and Huntington's chorea. 3. In the present study, the in vivo effect of three NSAIDs (lysine clonixinate (LC), indomethacine (INDO) and meloxicam (MELO)) on NO production and nitric oxide synthase expression in rat cerebellar slices was analysed. Rats were treated with (a) saline, (b) lipopolysaccharide (LPS) (5 mg kg(-1), i.p.), (c) saline in combination with different doses of NSAIDs and (d) LPS in combination with different doses of NSAIDs and then killed 6 h after treatment. 4. NO synthesis, evaluated by Bred and Snyder technique, was increased by LPS. This augmentation was inhibited by coadministration of the three NSAIDs assayed. None of the NSAIDs tested was able to modify control NO synthesis. 5. Expression of iNOS and neural NOS (nNOS) was detected by Western blotting in control and LPS-treated rats. LC and INDO, but not MELO, were able to inhibit the expression of these enzymes. 6. Therefore, reduction of iNOS and nNOS levels in cerebellum may explain, in part, the anti-inflammatory effect of these NSAIDs and may also have importance in the prevention of NO-mediated neuronal injury.

  16. Progression of motor subtypes in Huntington's disease: a 6-year follow-up study.

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    Jacobs, M; Hart, E P; van Zwet, E W; Bentivoglio, A R; Burgunder, J M; Craufurd, D; Reilmann, R; Saft, C; Roos, R A C

    2016-10-01

    The objective of this study is to investigate the progression of predominantly choreatic and hypokinetic-rigid signs in Huntington's disease (HD) and their relationship with cognitive and general functioning over time. The motor signs in HD can be divided into predominantly choreatic and hypokinetic-rigid subtypes. It has been reported in cross-sectional studies that predominantly choreatic HD patients perform better on functional and cognitive assessments compared to predominantly hypokinetic-rigid HD patients. The course of these motor subtypes and their clinical profiles has not been investigated longitudinally. A total of 4135 subjects who participated in the European HD Network REGISTRY study were included and classified at baseline as either predominantly choreatic (n = 891), hypokinetic-rigid (n = 916), or mixed-motor (n = 2328), based on a previously used method. The maximum follow-up period was 6 years. The mixed-motor group was not included in the analyses. Linear mixed models were constructed to investigate changes in motor subtypes over time and their relationship with cognitive and functional decline. Over the 6-year follow-up period, the predominantly choreatic group showed a significant decrease in chorea, while hypokinetic-rigid symptoms slightly increased in the hypokinetic-rigid group. On the Total Functional Capacity, Stroop test, and Verbal fluency task the rate of change over time was significantly faster in the predominantly choreatic group, while on all other clinical assessments the decline was comparable for both groups. Our results suggest that choreatic symptoms decrease over time, whereas hypokinetic-rigid symptoms slightly increase in a large cohort of HD patients. Moreover, different motor subtypes can be related to different clinical profiles.

  17. USE OF BOTULINUM TOXIN TYPE A IN THE TREATMENT OF SPASTICITY IN CHILDREN WITH CEREBRAL PALSY

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    Ljiljana Lazić

    2011-06-01

    Full Text Available Cerebral palsy has an incidence of about 1-2 per 1000 live births, and in spite of the progress of neonatal medicine, it seems that the incidence will not subside in the near future. The most important characteristic of cerebral palsy is movement abnormality: spasticity, chorea, athetosis, ataxia, dystonia, as well as their different combinations. About 70% of children who suffer from cerebral palsy also suffer from some form of spasticity. Spasticity is a type of muscle hypertonicity characterized by rapid increase in resistance to passive stretching of muscles. The interest for botulinum toxin application in the treatment of spasticity has dramatically increased in the last 10 years. Botulinum toxin is the most powerful neurotoxin that is found in nature. It is produced by anaerobic bacteria – clostridium botulinum. It is produced in eight serotypes of which type A is the most commonly used. Botulinum toxin blocks neuromuscular transmission and causes irreversible weakness of the treated muscle. It has been used since 1993 in the treatment of cerebral palsy in children. The toxin effect is permanent and it results in irreversible denervation. Functional recovery is possible after 2-4 months, due to sprouting of nerve endings and the formation of new synaptic contacts. Treatment with botulinum toxin is safe. Adverse effects are rare, temporary and completely reversible. Application of botulinum toxin prevents or reduces contractures and deformities, and thus delays or avoids surgical treatment. Yet, physical therapy, which prolongs and improves the effects of botulinum toxin, remains an essential and most important form of therapy in the treatment of children with cerebral palsy.

  18. Rheumatic fever & rheumatic heart disease: The last 50 years

    Science.gov (United States)

    Kumar, R. Krishna; Tandon, R.

    2013-01-01

    Rheumatic fever (RF) and rheumatic heart disease (RHD) continue to be a major health hazard in most developing countries as well as sporadically in developed economies. Despite reservations about the utility, echocardiographic and Doppler (E&D) studies have identified a massive burden of RHD suggesting the inadequacy of the Jones’ criteria updated by the American Heart Association in 1992. Subclinical carditis has been recognized by E&D in patients with acute RF without clinical carditis as well as by follow up of RHD patients presenting as isolated chorea or those without clinical evidence of carditis. Over the years, the medical management of RF has not changed. Paediatric and juvenile mitral stenosis (MS), upto the age of 12 and 20 yr respectively, severe enough to require operative treatement was documented. These negate the belief that patients of RHD become symptomatic ≥20 years after RF as well as the fact that congestive cardiac failure in childhood indicates active carditis and RF. Non-surgical balloon mitral valvotomy for MS has been initiated. Mitral and/or aortic valve replacement during active RF in patients not responding to medical treatment has been found to be life saving as well as confirming that congestive heart failure in acute RF is due to an acute haemodynamic overload. Pathogenesis as well as susceptibility to RF continue to be elusive. Prevention of RF morbidity depends on secondary prophylaxis which cannot reduce the burden of diseases. Primary prophylaxis is not feasible in the absence of a suitable vaccine. Attempts to design an antistreptococcal vaccine utilizing the M-protein has not succeeded in the last 40 years. Besides pathogenesis many other questions remain unanswered. PMID:23703332

  19. Study of brain metabolism using positron emission computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Heiss, W D

    1983-03-21

    Positron emission tomography permits the three-dimensional regional measurement of metabolism and blood flow in the brain. For the determination of cerebral metabolic rates of glucose by PET /sup 18/fluordeoxyglucose is usually applied: cerebral metabolic rate of glucose was found to be 36 to 47 ..mu..mol/100 g/min in the grey matter and 23 to 29 ..mu..mol/100 g/min in the white matter of normal volunteers. During physiologic activation metabolic rate of glucose is increased in the respective brain areas in relation to the strength and complexity of the stimulation. In patients suffering from ischaemic stroke glucose metabolism is markedly decreased within the infarction. Additonally, glucose metabolism is reduced by 20% in morphologically intact areas of the homolateral cortex, in the basal ganglia, in the cortical area contralateral to the infarction and in the contralateral cerebellum. This remote reduction of glucose utilization is probably caused by functional inactivation of these brain structures; it could be responsible for the diffuse organic syndrome in stroke victims not caused by the focal lesion. In patients suffering from dementia of the multi-infarct type and of the Alzheimer type glucose metabolism is reduced; the lesions in Alzheimer cases are most prominent in partietal and frontal cortical areas. In Chorea Huntington cases glucose metabolism is primarily disturbed in the striate, especially in the caudate nucleus; in these cases the metabolic disturbance can be detected earlier than the atrophy in computed tomograms. Disturbances of glucose and oxygen utilization are not necessary causes, but may also be sequelae od functional impairment. Additional information on pathogentic mechanisms may be obtained by the investigation of the protein synthesis.

  20. Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression.

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    Fanny Mochel

    Full Text Available Huntington disease (HD is a fatal neurodegenerative disorder, with no effective treatment. The pathogenic mechanisms underlying HD has not been elucidated, but weight loss, associated with chorea and cognitive decline, is a characteristic feature of the disease that is accessible to investigation. We, therefore, performed a multiparametric study exploring body weight and the mechanisms of its loss in 32 presymptomatic carriers and HD patients in the early stages of the disease, compared to 21 controls. We combined this study with a multivariate statistical analysis of plasma components quantified by proton nuclear magnetic resonance ((1H NMR spectroscopy. We report evidence of an early hypermetabolic state in HD. Weight loss was observed in the HD group even in presymptomatic carriers, although their caloric intake was higher than that of controls. Inflammatory processes and primary hormonal dysfunction were excluded. (1H NMR spectroscopy on plasma did, however, distinguish HD patients at different stages of the disease and presymptomatic carriers from controls. This distinction was attributable to low levels of the branched chain amino acids (BCAA, valine, leucine and isoleucine. BCAA levels were correlated with weight loss and, importantly, with disease progression and abnormal triplet repeat expansion size in the HD1 gene. Levels of IGF1, which is regulated by BCAA, were also significantly lower in the HD group. Therefore, early weight loss in HD is associated with a systemic metabolic defect, and BCAA levels may be used as a biomarker, indicative of disease onset and early progression. The decreased plasma levels of BCAA may correspond to a critical need for Krebs cycle energy substrates in the brain that increased metabolism in the periphery is trying to provide.

  1. Rating Scales for Movement Disorders With Sleep Disturbances: A Narrative Review

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    Rodríguez-Blázquez, Carmen; Forjaz, Maria João; Kurtis, Monica M.; Balestrino, Roberta; Martinez-Martin, Pablo

    2018-01-01

    Introduction: In recent years, a wide variety of rating scales and questionnaires for movement disorders have been developed and published, making reviews on their contents, and attributes convenient for the potential users. Sleep disorders are frequently present in movement disorders, and some movement disorders are accompanied by specific sleep difficulties. Aim: The aim of this study is to perform a narrative review of the most frequently used rating scales for movement disorders with sleep problems, with special attention to those recommended by the International Parkinson and Movement Disorders Society. Methods: Online databases (PubMed, SCOPUS, Web of Science, Google Scholar), related references from papers and websites and personal files were searched for information on comprehensive or global rating scales which assessed sleep disturbances in the following movement disorders: akathisia, chorea, dystonia, essential tremor, myoclonus, multiple system atrophy, Parkinson's disease, progressive supranuclear palsy, and tics and Tourette syndrome. For each rating scale, its objective and characteristics, as well as a summary of its psychometric properties and recommendations of use are described. Results: From 22 rating scales identified for the selected movement disorders, only 5 included specific questions on sleep problems. Movement Disorders Society-Unified Parkinson's Disease Rating scale (MDS-UPDRS), Non-Motor Symptoms Scale and Questionnaire (NMSS and NMSQuest), Scales for Outcomes in Parkinson's Disease (SCOPA)-Autonomic and Progressive Supranuclear Palsy Rating Scale (PSPRS) were the only rating scales that included items for assessing sleep disturbances. Conclusions: Despite sleep problems are frequent in movement disorders, very few of the rating scales addresses these specific symptoms. This may contribute to an infra diagnosis and mistreatment of the sleep problems in patients with movement disorders.

  2. Uncommon Applications of Deep Brain Stimulation in Hyperkinetic Movement Disorders

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    Kara M. Smith

    2015-02-01

    Full Text Available Background: In addition to the established indications of tremor and dystonia, deep brain stimulation (DBS has been utilized less commonly for several hyperkinetic movement disorders, including medication-refractory myoclonus, ballism, chorea, and Gilles de la Tourette (GTS and tardive syndromes. Given the lack of adequate controlled trials, it is difficult to translate published reports into clinical use. We summarize the literature, draw conclusions regarding efficacy when possible, and highlight concerns and areas for future study.Methods: A Pubmed search was performed for English-language articles between January 1980 and June 2014. Studies were selected if they focused primarily on DBS to treat the conditions of focus. Results: We identified 49 cases of DBS for myoclonus-dystonia, 21 for Huntington's disease, 15 for choreacanthocytosis, 129 for GTS, and 73 for tardive syndromes. Bilateral globus pallidus interna (GPi DBS was the most frequently utilized procedure for all conditions except GTS, in which medial thalamic DBS was more common. While the majority of cases demonstrate some improvement, there are also reports of no improvement or even worsening of symptoms in each condition. The few studies including functional or quality of life outcomes suggest benefit. A limited number of studies included blinded on/off testing. There have been two double-blind controlled trials performed in GTS and a single prospective double-blind, uncontrolled trial in tardive syndromes. Patient characteristics, surgical target, stimulation parameters, and duration of follow-up varied among studies.Discussion: Despite these extensive limitations, the literature overall supports the efficacy of DBS in these conditions, in particular GTS and tardive syndromes. For other conditions, the preliminary evidence from small studies is promising and encourages further study.

  3. A tale of two maladies? Pathogenesis of depression with and without the Huntington’s disease gene mutation

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    Xin eDu

    2013-07-01

    Full Text Available Huntington’s disease (HD is an autosomal dominant disorder caused by a tandem repeat expansion encoding an expanded tract of glutamines in the huntingtin protein. HD is progressive and manifests as psychiatric symptoms (including depression, cognitive deficits (culminating in dementia and motor abnormalities (including chorea. Having reached the 20th anniversary of the discovery of the ‘genetic stutter’ which causes HD, we still lack sophisticated insight into why so many HD patients exhibit affective disorders such as depression at very early stages, prior to overt appearance of motor deficits. In this review, we will focus on depression as the major psychiatric manifestation of HD, discuss potential mechanisms of pathogenesis identified from animal models, and compare depression in HD patients with that of the wider gene-negative population. The discovery of depressive-like behaviours as well as cellular and molecular correlates of depression in transgenic HD mice has added strong support to the hypothesis that the HD mutation adds significantly to the genetic load for depression. A key question is whether HD-associated depression differs from that in the general population. Whilst preclinical studies, clinical data and treatment responses suggest striking similarities, there are also some apparent differences. We discuss various molecular and cellular mechanisms which may contribute to depression in HD, and whether they may generalise to other depressive disorders. The autosomal dominant nature of HD and the existence of models with excellent construct validity provide a unique opportunity to understand the pathogenesis of depression and associated gene-environment interactions. Thus, understanding the pathogenesis of depression in HD may not only facilitate tailored therapeutic approaches for HD sufferers, but may also translate to the clinical depression which devastates the lives of so many people.

  4. Influence of inhibitors of poly(ADP-ribose) polymerase on DNA repair, chromosomal alterations, and mutations

    Energy Technology Data Exchange (ETDEWEB)

    Natarajan, A.T.; van Zeeland, A.A.; Zwanenburg, T.S.

    1983-01-01

    The influence of inhibitors of poly(ADP-ribose) polymerase such as 3-aminobenzamide (3AB) and benzamide (B) on the spontaneously occurring as well as mutagen induced chromosomal aberrations, sister chromatid exchanges (SCEs) and point mutations has been studied. In addition, the influence of 3AB on DNA repair was measured following treatment with physical and chemical mutagens. Post treatment of X-irradiated mammalian cells with 3AB increases the frequencies of induced chromosomal aberrations by a factor of 2 to 3. 3AB, when present in the medium containing bromodeoxyuridine(BrdUrd) during two cell cycles, increases the frequencies of SCEs in Chinese hamster ovary cells (CHO) in a concentration dependent manner leading to about a 10-fold increase at 10 mM concentration. The extent of increase in the frequencies of SCEs due to 1 mM 3AB in several human cell lines has been studied, including those derived from patients suffering from genetic diseases such as ataxia telangiectasia (A-T), Fanconi's anemia (FA), and Huntington's chorea. None of these syndromes showed any increased response when compared to normal cells. 3AB, however, increased the frequencies of spontaneously occurring chromosomal aberrations in A-T and FA cells. 3AB does not influence the frequencies of SCEs induced by UV or mitomycin C (MMC) in CHO cells. However, it increases the frequencies of SCEs induced by ethyl methanesulfonate (EMS) and methyl methanesulfonate (MMS). Under the conditions in which 3AB increases the frequencies of spontaneously occurring as well as induced SCEs, it does not increase the frequencies of point mutations in hypoxanthine-guanine phosphoribosyltransferase (HGPRT) locus. 3AB does not influence the amount of repair replication following dimethylsulphate (DMS) treatment of human fibroblasts, or UV irradiated human lymphocytes.

  5. Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.

    Science.gov (United States)

    Dastsooz, Hassan; Nemati, Hamid; Fard, Mohammad Ali Farazi; Fardaei, Majid; Faghihi, Mohammad Ali

    2017-08-18

    Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagnosed on the basis of changes in brain magnetic resonance imaging which indicate an abnormal brain iron accumulation in the basal ganglia. However, the diagnosis of specific types should be based on both clinical findings and molecular genetic testing for genes associated with different types of NBIA, including PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17. The purpose of this study was to investigate disease-causing mutations in two patients with distinct NBIA disorders. Whole Exome sequencing using Next Generation Illumina Sequencing was used to enrich all exons of protein-coding genes as well as some other important genomic regions in these two affected patients. A deleterious homozygous four-nucleotide deletion causing frameshift deletion in PANK2 gene (c.1426_1429delATGA, p.M476 fs) was identified in an 8 years old girl with dystonia, bone fracture, muscle rigidity, abnormal movement, lack of coordination and chorea. In addition, our study revealed a novel missense mutation in PLA2G6 gene (c.3G > T:p.M1I) in one and half-year-old boy with muscle weakness and neurodevelopmental regression (speech, motor and cognition). The novel mutations were also confirmed by Sanger sequencing in the proband and their parents. Current study uncovered two rare novel mutations in PANK2 and PLA2G6 genes in patients with NBIA disorder and such studies may help to conduct genetic counseling and prenatal diagnosis more accurately for individuals at the high risk of these types of disorders.

  6. Behavioral characterization of mouse models of neuroferritinopathy.

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    Capoccia, Sara; Maccarinelli, Federica; Buffoli, Barbara; Rodella, Luigi F; Cremona, Ottavio; Arosio, Paolo; Cirulli, Francesca

    2015-01-01

    Ferritin is the main intracellular protein of iron storage with a central role in the regulation of iron metabolism and detoxification. Nucleotide insertions in the last exon of the ferritin light chain cause a neurodegenerative disease known as Neuroferritinopathy, characterized by iron deposition in the brain, particularly in the cerebellum, basal ganglia and motor cortex. The disease progresses relentlessly, leading to dystonia, chorea, motor disability and neuropsychiatry features. The characterization of a good animal model is required to compare and contrast specific features with the human disease, in order to gain new insights on the consequences of chronic iron overload on brain function and behavior. To this aim we studied an animal model expressing the pathogenic human FTL mutant 498InsTC under the phosphoglycerate kinase (PGK) promoter. Transgenic (Tg) mice showed strong accumulation of the mutated protein in the brain, which increased with age, and this was accompanied by brain accumulation of ferritin/iron bodies, the main pathologic hallmark of human neuroferritinopathy. Tg-mice were tested throughout development and aging at 2-, 8- and 18-months for motor coordination and balance (Beam Walking and Footprint tests). The Tg-mice showed a significant decrease in motor coordination at 8 and 18 months of age, with a shorter latency to fall and abnormal gait. Furthermore, one group of aged naïve subjects was challenged with two herbicides (Paraquat and Maneb) known to cause oxidative damage. The treatment led to a paradoxical increase in behavioral activation in the transgenic mice, suggestive of altered functioning of the dopaminergic system. Overall, data indicate that mice carrying the pathogenic FTL498InsTC mutation show motor deficits with a developmental profile suggestive of a progressive pathology, as in the human disease. These mice could be a powerful tool to study the neurodegenerative mechanisms leading to the disease and help developing

  7. Door-to-door survey of major neurological disorders (project in Al Quseir City, Red Sea Governorate, Egypt

    Directory of Open Access Journals (Sweden)

    El Tallawy HN

    2013-05-01

    Full Text Available Hamdy NA El Tallawy,1 Wafaa MA Farghaly,1 Tarek A Rageh,1 Ghaydaa A Shehata,1 Reda Badry,1 Nabil A Metwally,2 Esam A El Moselhy,2 Mahmoud Hassan,2 Mohamed A Sayed,3 Ahmed A Waris,1 Yaser Hamed,2 Islam Shaaban,2 Mohamed A Hamed,1 Mahmoud Raafat Kandil11Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt; 2Department of Neurology and Public Health, Faculty of Medicine, Al-Azhar University (Assiut branch, Assiut, Egypt; 3Department of Neurology, Faculty of Medicine, Sohag University, Sohag, EgyptAbstract: A door-to-door survey, including every household, was conducted for all inhabitants of Al Quseir City (33,283, Red Sea Governorate, Egypt by three specialists of neurology as well as nine senior staff members of neurology and 15 female social workers to assess the epidemiology of major neurological disorders. Over six phases, from July 1, 2009 to January 31, 2012, screening of all eligible people in the population was carried out, by which case ascertainment of all major neurological disorders included in the study was done according to the accepted definitions and diagnostic criteria of the World Health Organization. The order of frequency of prevalence of the studied neurological disorders was dementia (3.83% for those aged > 60 years, migraine (2.8% for those aged > 8 years, stroke (6.2/1000 for those aged > 20 years, epilepsy (5.5/1000, Parkinson’s disease (452.1/100,000 for those aged > 40 years, cerebral palsy (3.6/1000 among children 37 years, chorea (21.03/100,000, athetosis (15/100,000, and multiple sclerosis (13.74/100,000. The incidence rates of stroke, epilepsy, and Bell’s palsy were 181/100,000, 48/100,000, and 98.9/100,000 per year, respectively.Keywords: prevalence, incidence, neurological disorders

  8. Toward a clinic of temporality?

    Science.gov (United States)

    Rivasseau Jonveaux, Thérèse; Batt, Martine; Trognon, Alain

    2017-12-01

    The discovery of time cells has expanded our knowledge in the field of spatial and temporal information coding and the key role of the hippocampus. The internal clock model complemented with the attentional gate model allows a more in-depth understanding of the perception of time. The motor representation of duration is ensured by the basal ganglia, while the cerebellum synchronizes short duration for the movement. The right prefrontal cortex seemingly intervenes in the handling of temporal information in working memory. The temporal lobe ensures the comparison of durations, especially the right lobe for the reference durations and the medial lobe for the reproduction of durations in episodic memory. During normal aging, the hypothesis of slowing of the temporal processor is evoked when noting the perception of the acceleration of the passage of time that seemingly occurs with advancing age. The various studies pertaining specifically to time cognition, albeit heterogeneous in terms of methodology, attest to the wide-ranging disturbances of this cognitive field during the course of numerous disorders, whether psychiatric - depression and schizophrenia notably - or neurological. Hence, perturbations in temporality are observed in focal brain lesions and in subcortical disorders, such as Parkinson's disease or Huntington's chorea. Alzheimer's disease represents a particularly fertile field of exploration with regard to time cognition and temporality. The objectified deconstruction of temporal experience provides insights into the very processes of temporality and their nature: episodic, semantic and procedural. In addition to exploration based on elementary stimuli, one should also consider the time lived, i.e. that of the subject, to better understand cognition as it relates to time. While the temporal dimension permeates the whole cognitive field, it remains largely neglected: integration of a genuine time cognition and temporality clinic in daily practice remains

  9. Immuno-reactive somatostatin in the cerebro-spinal fluid

    International Nuclear Information System (INIS)

    Kohler, J.

    1983-01-01

    In the present work the lumbar cerebro-spinal fluid of 178 patients with different neurological affections was examined with the aid of a specific radioimmunoassay for somatostatin. 18 patients without any pathologic neurological findings served as controls. In degenerative diseases of the brain, reduced somatostatin levels in the cerebro-spinal fluid as compared to the controls were measured. In 3 patients with isolated cerebellar atrophy no reduction of the somatostatin content was found; rather the values were highly normal. Huntington-Chorea also is a case apart. In patients with manifest affections, the somatostatin reduction, amounting to 54.6%, was particularly notable as compared to the controls. By contrast, degenerative diseases with predominant medullary and spastic affection are characterized by significantly increased somatostatin levels. Again, in non-spastic patients the values were not significantly different from those of the controls. Patients with inflammations of the brain and meminges as well as with tumors of the nervous system showed somatostatin levels increased by about 60.8% respectively 51.8% as compared to the controls. Epileptic patients normally exhibit a reduced somatostatin level in the cerebro-spinal fluid, but the reduction is not significant. Disseminated encephalomyclitis, whether chromic or acute, is not found to be associated with significant modifications of the somatostatin level in the cerebro-spinal fluid. Strikingly, however, patients in which the disease took a serious or very serious clinical course showed also the lowest somatostatin levels in the cerebro-spinal fluid. In patients exhibiting the roof compression symptom in consequence of a prolapse of the disk, no significant modifications were found. By contrast, in patients with the symptoms of a transverse lesion, significantly increased somatostatin values were measured. (orig./MG) [de

  10. Influence of apolipoprotein E genotype on senile dementia of the Alzheimer and Lewy body types. Significance for etiological theories of Alzheimer's disease.

    Science.gov (United States)

    Harrington, C R; Louwagie, J; Rossau, R; Vanmechelen, E; Perry, R H; Perry, E K; Xuereb, J H; Roth, M; Wischik, C M

    1994-12-01

    Alzheimer's disease (AD) is associated with an increased frequency of the apolipoprotein E type epsilon 4 allele. To address both the disease and the allele specificity of this association, we have examined the apolipoprotein E allele distribution in 255 elderly persons including those with autopsy-confirmed AD, senile dementia of the Lewy body type (SDLT), vascular dementia, Parkinson's disease (PD) or Huntington's disease and in nondemented controls either with or without coronary complications. The epsilon 4 allele frequency was increased in SDLT (0.365) and AD (0.328) as compared with controls (0.147), PD (0.098), or Huntington's chorea (0.171). Coronary disease and vascular dementia were associated with marginally higher epsilon 4 allele frequencies than in controls. In PD, amyloid beta-protein accumulated to a greater extent in those cases possessing an epsilon 4 allele than in those without. Those PD cases with dementia were not distinguished from either controls or PD cases without dementia, whether tested biochemically or by apolipoprotein E genotype. It is the comparison of the results in AD and SDLT that yielded the most significant findings. There was a 1.8-fold excess of amyloid beta-protein in AD as compared with controls, and the levels in SDLT were intermediate between those in AD and controls. In contrast, AD was discriminated from both controls and SDLT by the substantial accumulation of paired helical filament tau and phosphorylated tau (both increased more than 20-fold as compared with controls). SDLT was nevertheless characterized by an increased epsilon 4 allele frequency in the absence of significant tau pathology (at least 10-fold less than that in AD). These findings indicate that tau processing is more specifically associated with AD than is amyloid beta-protein accumulation and that presence of the epsilon 4 allele is not an etiological factor that accounts for tau pathology.

  11. [Images of gender and gender-specific therapies in German homoeopathic and naturopathic guidebooks (c. 1870-1930)].

    Science.gov (United States)

    Weigl, Andreas

    2011-01-01

    In the second half of the nineteenth and early twentieth century sex and gender became crucial categories not only in the medical discourse of German speaking countries. At the very centre of this discourse was the idea of women as the weaker sex. Because of the paradigm shift in the history of medicine (due to the discovery of the cytopathology) the principle of a weaker sex seemed to be corroborated by scientific research, a fact which impacted on medical practice in many ways. "Nervous" disease evolved as the major threat "of our times," with urban girls, young women and "weak" young men being most at risk. At the same time homoeopaths and naturopaths challenged modern medicine, offering alternative health practices, cures and drugs for people who could not afford the help of physicians or distrusted them. An analysis of several alternative medical guidebooks printed between c. 1870 and 1930 showed that homoeopaths and naturopaths shared the "sexualization" of medical discourse and practice only to an extent. On the one hand they believed that disorders such as hysteria, masturbation, chorea Sydenham and anaemia were nervous in nature and that the chances of curing them were poor. With the exception of masturbation these "deadly" threats were considered to be typically female. The general approach of alternative physicians, on the other hand, was unisex. The cures they offered to the public used unisex scales of constitutional characters. They even ignored the gender specificity of sick headaches. Gender-specific problems such as difficult deliveries and childbed fever were treated as "natural" and mild cures were favoured. The conclusion is that the influences of upper and middle class discourse on common health practices should not be overestimated.

  12. In vivo evaluation of [{sup 11}C]-3-[2-[(3-methoxyphenylamino)carbonyl]ethenyl]-4,6-dichloroindole- 2-carboxylic acid ([{sup 11}C]3MPICA) as a PET radiotracer for the glycine site of the NMDA ion channel

    Energy Technology Data Exchange (ETDEWEB)

    Waterhouse, Rikki N. E-mail: rnw7@columbia.edu; Sultana, Abida; Laruelle, M

    2002-11-01

    Alterations in normal NMDA receptor composition, densities and function have been implicated in the pathophysiology of certain neurological and neuropsychiatric disorders such as Parkinson's Disease, Huntington's Chorea, schizophrenia, alcoholism and stroke. In our first effort to provide PET ligands for the NMDA/glycine site, we reported the synthesis of a novel high affinity glycine site ligand, 3-[2-[(3-methoxyphenylamino)carbonyl]ethenyl]-4,6-dichloroindole-2 -carboxylic acid ((3MPICA), Ki=4.8{+-}0.9 nM) and the corresponding carbon-11 labeled PET ligand, [{sup 11}C]3MPICA. We report here the in vivo evaluation of [{sup 11}C]3MPICA in rats. Biodistribution analysis revealed that [{sup 11}C]3MPICA exhibited low degree of brain penetration and high blood concentration. The average uptake at two minutes was highest in the cerebellum (0.19{+-}0.04 %ID/g) and thalamus (0.18{+-}0.05 %ID/g) and lower in the hippocampus (0.13{+-}0.03) and frontal cortex (0.11{+-}0.04 %ID/g). The radioactivity cleared quickly from all brain regions examined. Administration of unlabeled 3MPICA (1 mg/kg, i.v.) revealed at 60 minutes a small general reduction in regional brain radioactivity concentrations in treated animals versus controls, however, the blood radioactivity concentration was also lowered, confounding the assessment of the degree of saturable binding. Warfarin co-administration (100 mg/kg, i.v.) significantly lowered blood activity at 5 minutes post-injection (-27%, P<0.01) but failed to significantly increase the brain uptake of the radiotracer. In view of these results, and especially considering the low brain penetration of this tracer, [{sup 11}C]3MPICA does not appear to be a promising PET radiotracer for in vivo use.

  13. Prognostic value of clinical and Doppler echocardiographic findings in children and adolescents with significant rheumatic valvular disease

    International Nuclear Information System (INIS)

    Araújo, Fátima Derlene da Rocha; Goulart, Eugênio Marcos Andrade; Meira, Zilda Maria Alves

    2012-01-01

    The diagnosis of acute rheumatic fever (RF) is based on clinical findings. However, during the chronic phase of the disease, the clinical approach is not sufficient for the follow-up of the patients and the Doppler echocardiography is a tool for the diagnosis of cardiac involvement. Prognostic variables that influence long-term outcomes are not well known. 462 patients with RF according to Jones criteria were studied, and followed-up from the initial attack to 13.6 ± 4.6 years. All patients underwent clinical assessment and Doppler echocardiography for the detection of heart valve involvement in the acute and chronic phases. Multivariate logistic regression analysis was used to identify the factors influencing long-term heart valve disease. Carditis occurred in 55.8% and subclinical valvulitis in 35.3% patients. In the chronic phase, 33% of the patients had significant valvular heart disease. No normal Doppler echocardiography exam was observed on patients who had severe valvulitis, although heart auscultation had become normal in 13% of these. In the multivariate analysis, only the severity of carditis and the mitral and/or aortic valvulitis were associated with significant valvular heart disease. Chorea or arthritis were protective factors for significant valvular heart disease, odds ratio 0.41 (95% C.I. 0.22 – 0.77) and 0.43 (95% C.I. 0.23 – 0.82), respectively. Our study suggests that the use of Doppler echocardiography during RF helps to identify prognostic factors regarding the development of significant valvular heart disease. Initial severe carditis is an important factor in the long-term prognosis of chronic RHD, whereas arthritis and chore during the initial episode of RF appears to be protective. Strict secondary prophylaxis should be mandatory in high risk patients

  14. Identifying Motor, Emotional-Behavioral, and Cognitive Deficits that Comprise the Triad of HD Symptoms from Patient, Caregiver, and Provider Perspectives

    Directory of Open Access Journals (Sweden)

    David Victorson

    2014-04-01

    Full Text Available Background: The objective of this study was to identify important attributes associated with the triad of symptoms (cognition, emotional–behavioral, and motor of Huntington's disease (HD from patient, caregiver, and medical provider perspectives to facilitate development of a new disease‐specific, health‐related quality of life (HRQOL instrument. Methods: We conducted a targeted literature review of HD and HRQOL instruments, expert surveys, and patient and caregiver phone‐based interviews to extract information on the symptoms and issues most relevant to the HD symptom triad (HD triad. The data collected from these sources were used to generate themes and subdomains and to develop an integrated schema that highlights the key dimensions of the triad. Results: The search identified the following areas: emotional functioning/behavioral changes (e.g., positive emotions, sadness/depression; cognitive functioning (e.g., memory/learning, attention/comprehension; physical functioning (e.g., motor functioning, medication; social functioning (e.g., leisure, interpersonal relationships; end‐of‐life concerns/planning; and gene testing. Fifteen individuals diagnosed with HD and 16 HD caregivers, recruited from several Huntington's Disease Society of America support group networks, completed phone interviews. Nineteen US medical providers who specialize in HD completed the online survey. Twenty‐six subdomains of the HD symptom triad (seven cognition, 12 emotional–behavioral, and seven motor emerged relatively consistently across patient, caregiver, and provider samples. These included movements/chorea, memory impairment, depression, and anxiety. Discussion: Based on an integrated, mixed‐methods approach, important HD triad symptom were identified and organized into a guiding schema. These patient‐, caregiver‐, and provider‐triangulated data served as the basis for development of a HD‐specific HRQOL instrument, the HD‐PRO‐TRIAD™.

  15. Clinical pattern of heart diseases in children

    International Nuclear Information System (INIS)

    Ejaz, M.S.; Billoo, A.G.

    2000-01-01

    This study was done to determine various causes and clinical presentation of heart disease in children. It was a prospective hospital study conducted in Department of Pediatrics Civil Hospital, Karachi from August 1995 to February 1996. In this study, 70 patients of heart disease upto 12 years of age were inducted. There were 33 (47.14%) cases of congenital heart diseases and 37 (52.85%) cases of acquired heart diseases. The age distribution showed that heart disease was more frequent between 0-11 months of age (41.42%). Congenital heart diseases were also frequent between 0-11 months (28.57%). On the other hand acquired heart diseases were more common between 6-12 years (22.85%). In this study the males were predominantly involved, the male to female ratio was 1.05:1. In congenital heart disease it was 1.3:1 and in acquired heart diseases it was 0.85:1. Ventricular septal defect was the commonest congenital lesion reported (20%). Rheumatic fever and viral myocarditis were two frequently occurring acquired heart-diseases 17.14% each. The common presentation of heart diseases were respiratory distress (94.28%), fever (90%), feeding difficulty (57.14%) and failure to thrive (34.28%). In case of rheumatic fever, chorea was present in 8.57%, arthritis in 11.42% and S/C nodules (2.85%) cases respectively. The early management of the problem may help in decreasing morbidity and mortality due to these disease in children. Prenatal detection of congenital cardiac lesions by fetal echocardiography in high risk pregnancies, early intervention in neonatal period and counseling of the parents may help in prevention of congenital heart diseases in children. Primary prevention of rheumatic fever can be achieved by early diagnosis and treatment of streptococcal throat infection. (author)

  16. The unresolved puzzle why alanine extensions cause disease.

    Science.gov (United States)

    Winter, Reno; Liebold, Jens; Schwarz, Elisabeth

    2013-08-01

    The prospective increase in life expectancy will be accompanied by a rise in the number of elderly people who suffer from ill health caused by old age. Many diseases caused by aging are protein misfolding diseases. The molecular mechanisms underlying these disorders receive constant scientific interest. In addition to old age, mutations also cause congenital protein misfolding disorders. Chorea Huntington, one of the most well-known examples, is caused by triplet extensions that can lead to more than 100 glutamines in the N-terminal region of huntingtin, accompanied by huntingtin aggregation. So far, nine disease-associated triplet extensions have also been described for alanine codons. The extensions lead primarily to skeletal malformations. Eight of these proteins represent transcription factors, while the nuclear poly-adenylate binding protein 1, PABPN1, is an RNA binding protein. Additional alanines in PABPN1 lead to the disease oculopharyngeal muscular dystrophy (OPMD). The alanine extension affects the N-terminal domain of the protein, which has been shown to lack tertiary contacts. Biochemical analyses of the N-terminal domain revealed an alanine-dependent fibril formation. However, fibril formation of full-length protein did not recapitulate the findings of the N-terminal domain. Fibril formation of intact PABPN1 was independent of the alanine segment, and the fibrils displayed biochemical properties that were completely different from those of the N-terminal domain. Although intranuclear inclusions have been shown to represent the histochemical hallmark of OPMD, their role in pathogenesis is currently unclear. Several cell culture and animal models have been generated to study the molecular processes involved in OPMD. These studies revealed a number of promising future therapeutic strategies that could one day improve the quality of life for the patients.

  17. [Psychiatric Disorders in Pediatric Patients With Systemic Lupus Erythematosus in a Reference Hospital].

    Science.gov (United States)

    Zuñiga Zambrano, Yenny Carolina; Vásquez, Rafael

    2014-01-01

    To describe the psychiatric manifestations in pediatric patients with systemic erythematous lupus seen in the Fundación Hospital de la Misericordia. Observational descriptive study. Medical charts and test results of inpatients and outpatients between 2007 and2013 were reviewed; 39 patients were selected. SPSS 19 was used for statistical analysis. Statistical significance was considered with P=.05. Mean age was 13.7 (2.33), with 78.9% female. The most frequent psychiatric manifestation was anxiety (52.6%), followed by adjustment disorder and depression (36.8% each one), psychosis (10%), conversion disorder (7.9%), and obsessive compulsive disorder (5.3%). The mean SLICC score was 2.76 (2.8), and the mean SLEDAI score was 20.81 (20.82). Antinuclear antibodies were positive in 81.25%. Neuropsychiatric lupus was diagnosed in 65.8% of patients; seizures were observed in 23.7%, headache in 36.8%, stroke in 13.2%, vasculitis, chorea 5.3%, and meningitis 5.3% of patients. The mean time from lupus diagnosis was 20.47 (22.2) months, with the shortest period for adjustment disorder and the longest period in patients with conversion disorder (pseudo-seizures) being 15 months and 31 months, respectively. The highest SLEDAI score was in patients with psychosis (35.5 [16.21] vs 19.08 [13.72]; P=.032), and also the highest disease damage (SLICC, 4.25 [4.03] vs 2.58 [2.67]; P=.27) in comparison with the other manifestations. The most frequent psychiatric manifestations were anxiety, depression, and adjustment disorder, with a higher frequency than other studies, and with lupus activity principally in patients with psychosis. Copyright © 2013 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  18. Human genome and philosophy: what ethical challenge will human genome studies bring to the medical practices in the 21st century?

    Science.gov (United States)

    Renzong, Q

    2001-12-01

    A human being or person cannot be reduced to a set of human genes, or human genome. Genetic essentialism is wrong, because as a person the entity should have self-conscious and social interaction capacity which is grown in an interpersonal relationship. Genetic determinism is wrong too, the relationship between a gene and a trait is not a linear model of causation, but rather a non-linear one. Human genome is a complexity system and functions in a complexity system of human body and a complexity of systems of natural/social environment. Genetic determinism also caused the issue of how much responsibility an agent should take for her/his action, and how much degrees of freedom will a human being have. Human genome research caused several conceptual issues. Can we call a gene 'good' or 'bad', 'superior' of 'inferior'? Is a boy who is detected to have the gene of Huntington's chorea or Alzheimer disease a patient? What should the term 'eugenics' mean? What do the terms such as 'gene therapy', 'treatment' and 'enhancement' and 'human cloning' mean etc.? The research of human genome and its application caused and will cause ethical issues. Can human genome research and its application be used for eugenics, or only for the treatment and prevention of diseases? Must the principle of informed consent/choice be insisted in human genome research and its application? How to protecting gene privacy and combating the discrimination on the basis of genes? How to promote the quality between persons, harmony between ethnic groups and peace between countries? How to establish a fair, just, equal and equitable relationship between developing and developed countries in regarding to human genome research and its application?

  19. Chorein Sensitivity of Actin Polymerization, Cell Shape and Mechanical Stiffness of Vascular Endothelial Cells

    Directory of Open Access Journals (Sweden)

    Ioana Alesutan

    2013-09-01

    Full Text Available Background/Aims: Endothelial cell stiffness plays a key role in endothelium-dependent control of vascular tone and arterial blood pressure. Actin polymerization and distribution of microfilaments is essential for mechanical cell stiffness. Chorein, a protein encoded by the VPS13A gene, defective in chorea-acanthocytosis (ChAc, is involved in neuronal cell survival as well as cortical actin polymerization of erythrocytes and blood platelets. Chorein is expressed in a wide variety of further cells, yet nothing is known about the impact of chorein on cells other than neurons, erythrocytes and platelets. The present study explored whether chorein is expressed in human umbilical vein endothelial cells (HUVECs and addressed the putative role of chorein in the regulation of cytoskeletal architecture, stiffness and survival of those cells. Methods: In HUVECs with or without silencing of the VPS13A gene, VPS13A mRNA expression was determined utilizing quantitative RT-PCR, cytoskeletal organization visualized by confocal microscopy, G/F actin ratio and phosphorylation status of focal adhesion kinase quantified by western blotting, cell death determined by flow cytometry, mechanical properties studied by atomic force microscopy (AFM and cell morphology analysed by scanning ion conductance microscopy (SICM. Results: VPS13A mRNA expression was detectable in HUVECs. Silencing of the VPS13A gene attenuated the filamentous actin network, decreased the ratio of soluble G-actin over filamentous F-actin, reduced cell stiffness and changed cell morphology as compared to HUVECs silenced with negative control siRNA. These effects were paralleled by a significant decrease in FAK phosphorylation following VPS13A silencing. Moreover, silencing of the VPS13A gene increased caspase 3 activity and induced necrosis in HUVECs. Conclusions: Chorein is a novel regulator of cytoskeletal architecture, cell shape, mechanical stiffness and survival of vascular endothelial cells.

  20. The incidence of acute rheumatic fever and chronic rheumatic heart disease in the Russian population (2011–2012

    Directory of Open Access Journals (Sweden)

    Rimma Mikhailovna Balabanova

    2014-03-01

    Full Text Available The problems of acute rheumatic fever (ARF and chronic rheumatic heart disease (CRHD are discussed. Carditis, polyarthritis, erythema annulare, subcutaneous nodules, and chorea minor are the main clinical manifestations of ARF caused by β-hemolytic streptococcus A. Cardiac failures emerge in 60–65% of patients after the first ARF episode. Repeated ARF attacks promote CRHD. The aim of the study is to evaluate the prevalence of rheumatic heart disease in different age groups in the regions of Russian Federation in 2011–2012. Materials and Methods. Analysis of the Ministry of Healthcare of the Russian Federation reports on population morbidity in 2011–2012 (Form N12.Results. The highest ARF prevalence was observed in 15–17-year-old teenagers, while the lowest, in adults over 18-year-old. The lowest CRHD figures were registered in juniors, while the highest ones, in adults. No ARF cases in 0–14-year-old children were registered in 31 entities of the Russian Federation; single cases, in 17 entities; no ARF cases in 15–17-year-old teenagers was registered in 37 entities, and 1–2 ARF cases were registered in 23 entities. Only in 10 entities, no ARF cases were registered in adults, and single cases were registered in 22 entities. Extremely unfavorable situations were found in the Chechen Republic (140 ARF cases in 0–14-year-old children and in the Dagestan Republic (140 cases. High morbidity among 15–17-year-old teenagers was registered in tje Kaliningrad region (83 cases and the Chechen Republic (100. ARF cases in adults were most frequent in St. Petersburg (124 cases, the Chechen Republic (154, and the Moscow region (161.The article lists the ARF and CRHD preventive measures.

  1. The incidence of acute rheumatic fever and chronic rheumatic heart disease in the Russian population (2011–2012

    Directory of Open Access Journals (Sweden)

    Rimma Mikhailovna Balabanova

    2014-01-01

    Full Text Available The problems of acute rheumatic fever (ARF and chronic rheumatic heart disease (CRHD are discussed. Carditis, polyarthritis, erythema annulare, subcutaneous nodules, and chorea minor are the main clinical manifestations of ARF caused by β-hemolytic streptococcus A. Cardiac failures emerge in 60–65% of patients after the first ARF episode. Repeated ARF attacks promote CRHD. The aim of the study is to evaluate the prevalence of rheumatic heart disease in different age groups in the regions of Russian Federation in 2011–2012. Materials and Methods. Analysis of the Ministry of Healthcare of the Russian Federation reports on population morbidity in 2011–2012 (Form N12.Results. The highest ARF prevalence was observed in 15–17-year-old teenagers, while the lowest, in adults over 18-year-old. The lowest CRHD figures were registered in juniors, while the highest ones, in adults. No ARF cases in 0–14-year-old children were registered in 31 entities of the Russian Federation; single cases, in 17 entities; no ARF cases in 15–17-year-old teenagers was registered in 37 entities, and 1–2 ARF cases were registered in 23 entities. Only in 10 entities, no ARF cases were registered in adults, and single cases were registered in 22 entities. Extremely unfavorable situations were found in the Chechen Republic (140 ARF cases in 0–14-year-old children and in the Dagestan Republic (140 cases. High morbidity among 15–17-year-old teenagers was registered in tje Kaliningrad region (83 cases and the Chechen Republic (100. ARF cases in adults were most frequent in St. Petersburg (124 cases, the Chechen Republic (154, and the Moscow region (161.The article lists the ARF and CRHD preventive measures.

  2. 'The Move', an innovative simulation-based medical education program using roleplay to teach neurological semiology: Students' and teachers' perceptions.

    Science.gov (United States)

    Roze, E; Flamand-Roze, C; Méneret, A; Ruiz, M; Le Liepvre, H; Duguet, A; Renaud, M-C; Alamowitch, S; Steichen, O

    2016-01-01

    Neurological disorders are frequently being managed by general practitioners. It is therefore critical that future physicians become comfortable with neurological examination and physical diagnosis. Graduating medical students often consider neurological examination as one of the clinical skills they are least comfortable with, and they even tend to be neurophobic. One way to improve the learning of neurological semiology is to design innovative learner-friendly educational methods, including simulation training. The feasibility of mime-based roleplaying was tested by a simulation training program in neurological semiology called 'The Move'. The program was proposed to third-year medical students at Pierre and Marie Curie University in Paris during their neurology rotation. Students were trained to roleplay patients by miming various neurological syndromes (pyramidal, vestibular, cerebellar, parkinsonian) as well as distal axonopathy, chorea and tonic-clonic seizures. Using an anonymous self-administered questionnaire, the students' and teachers' emotional experience and views on the impact of the program were then investigated. A total of 223/365 students (61%) chose to participate in the study. Both students and teachers felt their participation was pleasant. Students stated that The Move increased their motivation to learn neurological semiology (78%), and improved both their understanding of the subject (77%) and their long-term memorization of the teaching content (86%). Although only a minority thought The Move was likely to improve their performance on their final medical examination (32%), a clear majority (77%) thought it would be useful for their future clinical practice. Both students (87%) and teachers (95%) thought The Move should be included in the medical curriculum. Mime-based roleplaying simulation may be a valuable tool for training medical students in neurological semiology, and may also help them to overcome neurophobia. Copyright © 2016

  3. Behavioral characterization of mouse models of neuroferritinopathy.

    Directory of Open Access Journals (Sweden)

    Sara Capoccia

    Full Text Available Ferritin is the main intracellular protein of iron storage with a central role in the regulation of iron metabolism and detoxification. Nucleotide insertions in the last exon of the ferritin light chain cause a neurodegenerative disease known as Neuroferritinopathy, characterized by iron deposition in the brain, particularly in the cerebellum, basal ganglia and motor cortex. The disease progresses relentlessly, leading to dystonia, chorea, motor disability and neuropsychiatry features. The characterization of a good animal model is required to compare and contrast specific features with the human disease, in order to gain new insights on the consequences of chronic iron overload on brain function and behavior. To this aim we studied an animal model expressing the pathogenic human FTL mutant 498InsTC under the phosphoglycerate kinase (PGK promoter. Transgenic (Tg mice showed strong accumulation of the mutated protein in the brain, which increased with age, and this was accompanied by brain accumulation of ferritin/iron bodies, the main pathologic hallmark of human neuroferritinopathy. Tg-mice were tested throughout development and aging at 2-, 8- and 18-months for motor coordination and balance (Beam Walking and Footprint tests. The Tg-mice showed a significant decrease in motor coordination at 8 and 18 months of age, with a shorter latency to fall and abnormal gait. Furthermore, one group of aged naïve subjects was challenged with two herbicides (Paraquat and Maneb known to cause oxidative damage. The treatment led to a paradoxical increase in behavioral activation in the transgenic mice, suggestive of altered functioning of the dopaminergic system. Overall, data indicate that mice carrying the pathogenic FTL498InsTC mutation show motor deficits with a developmental profile suggestive of a progressive pathology, as in the human disease. These mice could be a powerful tool to study the neurodegenerative mechanisms leading to the disease and help

  4. Prevalence of neurological disorders in Al Quseir, Egypt: methodological aspects

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    El-Tallawy H

    2013-09-01

    Full Text Available Hamdy El-Tallawy,1 Wafa Farghaly,1 Nabil Metwally,2 Tarek Rageh,1 Ghaydaa A Shehata,1 Reda Badry,1 Esam El Moselhy,2 Mahmoud Hassan,2 Mohamed M Sayed,3 Ahmed A Abdelwarith,1 Y Hamed,2 I Shaaban,2 Talal Mohamed,4 Mohamed Abd El Hamed,1 MR Kandil1 1Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt; 2Department of Neurology and Public Health, Faculty of Medicine, Al-Azhar University (Assiut branch, Assiut, Egypt; 3Department of Neurology, Faculty of Medicine, Sohag University, Sohag, Egypt; 4Department of Neurology, Faculty of Medicine, Qena University, Qena, Egypt Abstract: Methodology and strategy play a very important role in epidemiological studies. Determination of the study area, geographical features, facilities, difficulties, and key personnel from the same area are important factors for successful methodology. Over 31 months (July 1, 2009 to January 31, 2012, a screening and an examination survey were carried out to ascertain the prevalence of epilepsy, stroke, dementia, cerebellar ataxia, migraine, cerebral palsy, Parkinsonism, chorea, athetosis, dystonia, trigeminal neuralgia, Bell's palsy, multiple sclerosis, spinal cord disorders, and attention deficit hyperactivity disorders in Al Quseir, Red Sea Governorate, Egypt. A total of 33,285 people were screened by three neurologists in a door-to-door manner, including every door, using a standardized Arabic questionnaire to detect any subject with a neurological disorder. The methodological aspects of this project were carried out through eight phases: (1 data collection; (2 preparation; (3 screening; (4 case ascertainment; (5 investigations; (6 classifications; (7 data entry; and (8 statistics and tabulations. The results of this study reveal that the total prevalence of neurological disorders in Al Quseir was 4.6% and higher among females (5.2% than males (3.9%. The highest prevalence was recorded in the elderly population (60+ years [8.0%] and among the age

  5. Delusional parasitosis with hyperthyroidism in an elderly woman: a case report

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    Ozten Eylem

    2013-01-01

    Full Text Available Abstract Introduction Delusional parasitosis is a rare, monosymptomatic psychosis involving a delusion of being infested with parasites. It is commonly observed among female patients over the age of 50. It is classified as a ‘delusional disorder’ according to the 10th revision of the International Classification of Diseases and as a ‘delusional disorder - somatic type’ according to the Diagnostic and Statistical Manual, Fourth Edition. Delusional parasitosis was reported to be associated with physical disorders such as hypoparathyroidism, Huntington’s chorea and Alzheimer’s disease, among others. Other than vitamin deficiencies however, a causal relationship has not to date been identified. We present this case due to the rarity of Turkish patients with this condition, its duration of follow-up, and its temporal pattern of symptoms paralleling thyroid function tests. Case presentation Our patient was a 70-year-old white Anatolian Turkish woman with primary school education who had been living alone for the past five years. She presented to our psychiatry department complaining of ‘feeling large worms moving in her body’. The complaints started after she was diagnosed with hyperthyroidism, increased when she did not use her thyroid medications and remitted when she was compliant with treatment. She was treated with pimozide 2mg/day for 20 months and followed-up without any antipsychotic treatment for an additional nine months. At her last examination, she was euthyroid, not receiving antipsychotics and was not having any delusions. Conclusion Although endocrine disorders, including hyperthyroidism, are listed among the etiological factors contributing to secondary delusional parasitosis, as far as we are aware this is the first case demonstrating a temporal pattern of thyroid hyperfunction and delusions through a protracted period of follow-up. It may be that the treatment of delusional parasitosis depends on clarifying the

  6. Biased Type 1 Cannabinoid Receptor Signaling Influences Neuronal Viability in a Cell Culture Model of Huntington Disease.

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    Laprairie, Robert B; Bagher, Amina M; Kelly, Melanie E M; Denovan-Wright, Eileen M

    2016-03-01

    Huntington disease (HD) is an inherited, autosomal dominant, neurodegenerative disorder with limited treatment options. Prior to motor symptom onset or neuronal cell loss in HD, levels of the type 1 cannabinoid receptor (CB1) decrease in the basal ganglia. Decreasing CB1 levels are strongly correlated with chorea and cognitive deficit. CB1 agonists are functionally selective (biased) for divergent signaling pathways. In this study, six cannabinoids were tested for signaling bias in in vitro models of medium spiny projection neurons expressing wild-type (STHdh(Q7/Q7)) or mutant huntingtin protein (STHdh(Q111/Q111)). Signaling bias was assessed using the Black and Leff operational model. Relative activity [ΔlogR (τ/KA)] and system bias (ΔΔlogR) were calculated relative to the reference compound WIN55,212-2 for Gαi/o, Gαs, Gαq, Gβγ, and β-arrestin1 signaling following treatment with 2-arachidonoylglycerol (2-AG), anandamide (AEA), CP55,940, Δ(9)-tetrahydrocannabinol (THC), cannabidiol (CBD), and THC+CBD (1:1), and compared between wild-type and HD cells. The Emax of Gαi/o-dependent extracellular signal-regulated kinase (ERK) signaling was 50% lower in HD cells compared with wild-type cells. 2-AG and AEA displayed Gαi/o/Gβγ bias and normalized CB1 protein levels and improved cell viability, whereas CP55,940 and THC displayed β-arrestin1 bias and reduced CB1 protein levels and cell viability in HD cells. CBD was not a CB1 agonist but inhibited THC-dependent signaling (THC+CBD). Therefore, enhancing Gαi/o-biased endocannabinoid signaling may be therapeutically beneficial in HD. In contrast, cannabinoids that are β-arrestin-biased--such as THC found at high levels in modern varieties of marijuana--may be detrimental to CB1 signaling, particularly in HD where CB1 levels are already reduced. Copyright © 2016 by The American Society for Pharmacology and Experimental Therapeutics.

  7. Diagnosis and management of acute movement disorders.

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    Dressler, D; Benecke, R

    2005-11-01

    Most movement disorders, reflecting degenerative disorders, develop in a slowly progressive fashion. Some movement disorders, however, manifest with an acute onset. We wish to give an overview of the management and therapy of those acute-onset movement disorders.Drug-induced movement disorders are mainly caused by dopamine-receptor blockers (DRB) as used as antipsychotics (neuroleptics) and antiemetics. Acute dystonic reactions usually occur within the first four days of treatment. Typically, cranial pharyngeal and cervical muscles are affected. Anticholinergics produce a prompt relief. Akathisia is characterized by an often exceedingly bothersome feeling of restlessness and the inability to remain still. It is a common side effect of DRB and occurs within few days after their initiation. It subsides when DRB are ceased. Neuroleptic Malignant Syndrome is a rare, but life-threatening adverse reaction to DRB which may occur at any time during DRB application. It is characterised by hyperthermia, rigidity, reduced consciousness and autonomic failure. Therapeutically immediate DRB withdrawal is crucial. Additional dantrolene or bromocriptine application together with symptomatic treatment may be necessary. Paroxysmal dyskinesias are childhood onset disorders characterised by dystonic postures, chorea, athetosis and ballism occurring at irregular intervals. In Paroxysmal Kinesigenic Dyskinesia they are triggered by rapid movements, startle reactions or hyperventilation. They last up to 5 minutes, occur up to 100 times per day and are highly sensitive to anticonvulsants. In Paroxysmal Non-Kinesiogenic Dyskinesia they cannot be triggered, occur less frequently and last longer. Other paroxysmal dyskinesias include hypnogenic paroxysmal dyskinesias, paroxysmal exertional dyskinesia, infantile paroxysmal dystonias, Sandifer's syndrome and symptomatic paroxysmal dyskinesias. In Hereditary Episodic Ataxia Type 1 attacks of ataxia last for up to two minutes, may be accompanied

  8. Clinical, laboratory and neuroimage findings in juvenile systemic lupus erythematosus presenting involvement of the nervous system Achados clínicos, laboratoriais e de imagem no lupus eritematoso sistêmico juvenil com comprometimento do sistema nervoso

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    Mônica Jaques Spinosa

    2007-06-01

    Full Text Available OBJECTIVE: To characterize neurological involvement in juvenile systemic lupus erythe-matosus. METHOD: The charts of all patients with the diagnosis of systemic lupus erythematosus before the age of 16 years, followed at the Rheumatology Unit of Pequeno Príncipe Hospital, from January 1992 to January 2006, were retrospectively reviewed, highlighting neuropsychiatric aspects. RESULTS: Forty-seven patients were included. Neuropsychiatric syndromes were found 29 (61.7%: seizures (17 / 36.2%, intractable headache (7 / 14.9%, mood disorders (5 / 10.6%, cerebrovascular disease (4 / 8.5%, acute confusional state (3 / 6.4%, aseptic meningitis (3 / 6.4%, psychosis (3 / 6.4%, chorea (3 / 6.4%, Guillain-Barré syndrome (2 / 4.3% and cranial neuropathy (1 / 2.1%. Morbidity indexes (SLEDAI and SLICC were higher among patients with neuropsychiatric manifestations (pOBJETIVO: Caracterizar o comprometimento neurológico no lupus eritematoso sistêmico juvenil. MÉTODO: Os prontuários dos pacientes com o diagnóstico de lupus eritematoso sistêmico antes dos 16 anos de idade, em acompanhamento na Unidade de Reumatologia do Hospital Pequeno Príncipe, de janeiro de 1992 a janeiro de 2006, foram revisados retrospectivamente enfatizando aspectos neuropsiquiátricos. RESULTADOS: Quarenta e sete pacientes foram incluídos. Síndromes neuropsiquiátricas foram encontradas em 29 (61,7%: crises convulsivas (17 / 36,2%, cefaléia intratável (7 / 14,9%, distúrbios do humor (5 / 10,6%, doença cerebrovascular (4 / 8,5%, estado confusional agudo (3 / 6,4%, meningite asséptica (3 / 6,4%, psicose (3 / 6,4%, coréia (3 / 6,4%, síndrome de Guillain-Barré (2 / 4,3% e neuropatia craniana (1 / 2,1%. Índices de morbidade (SEDAI e SLICC foram maiores em pacientes com manifestações neuropsiquiátricas (p<0,05. CONCLUSÃO: Síndromes neuropsiquiátricas são um achado freqüente que acrescenta morbidade significativa ao lupus eritematoso sistêmico juvenil.

  9. Antineuronal antibodies in a heterogeneous group of youth and young adults with tics and obsessive-compulsive disorder.

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    Cox, Carol J; Zuccolo, Amir J; Edwards, Erica V; Mascaro-Blanco, Adita; Alvarez, Kathy; Stoner, Julie; Chang, Kiki; Cunningham, Madeleine W

    2015-02-01

    Antineuronal antibodies have been implicated in tic and obsessive compulsive disorders (OCD) associated with group A streptococcal infections. We investigated antineuronal autoantibody levels as well as antibody-mediated neuronal cell signaling activity, as previously reported for Sydenham chorea and pediatric autoimmune neuropsychiatric disorder associated with streptococci (PANDAS), to determine immunological profiles for a large cohort of children with tics and/or OCD. Study participants (n=311; ages 4-27 years, 66% male) were selected from a larger group of individuals with self-reported neuropsychiatric symptoms (n=742) and included only those with accurate knowledge of group A streptococcal infection status, except for four individuals in whom streptococcal infection status was unknown. Healthy control samples (n=16; ages 5-14 years, 81% male), came from the National Institute of Mental Health and Yale University. In addition to serum donations, participants and/or legal guardians provided neuropsychiatric and related medical histories of symptoms that had lasted >1 year. Antineuronal immunoglobulin G (IgG) titers were measured by standard enzyme-linked immunosorbent assay (ELISA) and compared with mean titers of normal age-matched sera against lysoganglioside, tubulin, and dopamine receptors (D1R and D2R). Antibody-mediated signaling of calcium calmodulin dependent protein kinase II (CaMKII) activity in a human neuronal cell line (SK-N-SH) was tested in serum. Of 311 individuals, 222 (71%) had evidence of group A streptococcal infection, which was associated with tics and/or OCD status (p=0.0087). Sera from individuals with tics and/or OCD (n=261) had evidence of elevated serum IgG antibodies against human D1R (ptics and OCD had significantly increased activation of CaMKII activity compared with patients with only tics or only OCD (ptics and OCD with elevated anti-D1R and antilysoganglioside antineuronal antibodies in serum concomitant with higher activation

  10. Fluorine-18-fluorodeoxyglucose positron emission tomography (PET) brain imaging patterns in patients with suspected X-linked dystonia parkinsonism (study in progress)

    International Nuclear Information System (INIS)

    Santiago, J.F.Y.; Fugoso, L.; Evidente, V.G.H.

    2004-01-01

    Objective: X-linked dystonia-parkinsonism (XDP or Lubag) is an adult-onset dystonia syndrome that afflicts mostly Filipino men from the island of Panay, Philippines.It starts focally and becomes generalized or multifocal after the first five years. Parkinsonism is commonly encountered as the initial symptom before the onset of dystonia. Patients may manifest a wide spectrum of movement disorders, including myoclonus, chorea, akathisia, ballism and myorhythmia. Diagnosis is based on the clinical presentation, and the establishment of an x-linked recessive pattern of inheritance and maternal roots from the Panay Islands. Neuroimaging in advanced cases have demonstrated caudate and putaminal atrophy. Previous studies using PET have shown selective reduction in normalized striatal glucose metabolism. The purpose of this study is to describe the FDG distribution using PET imaging in Filipino patients with suspected or confirmed Lubag in various stages of their disease in order to determine if FDG-PET can be used in the initial diagnosis and staging of the disease. Methods and results: All patients presenting to the Movement Disorders Center of St. Lukes Medical Center with dystonia and Parkinsonism symptoms with X-linked recessive inheritance pattern and maternal roots traceable to the Panay Islands were sent for a Brain FDG PET Scan. Seven male patients with various movement disorders (dysarthria, face dystonia, Parkinsonism, hemibalismus, involuntary movements and rest tremors) with duration of symptoms from 1 to 5 years underwent a PET scan. All patients had non visualized bilateral putamen, four had hypometabolic caudate nuclei, one had intense (hypermetabolic) caudate nuclei. CT scan and MRI did not show any findings which may explain the movement disorder symptoms. More patients are being collected and gene typing is planned for some patients. Conclusions: This small series of patients demonstrate that patients with the phenotypic characteristics of X

  11. Association Between Motor Symptoms and Brain Metabolism in Early Huntington Disease.

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    Gaura, Véronique; Lavisse, Sonia; Payoux, Pierre; Goldman, Serge; Verny, Christophe; Krystkowiak, Pierre; Damier, Philippe; Supiot, Frédéric; Bachoud-Levi, Anne-Catherine; Remy, Philippe

    2017-09-01

    Brain hypometabolism is associated with the clinical consequences of the degenerative process, but little is known about regional hypermetabolism, sometimes observed in the brain of patients with clinically manifest Huntington disease (HD). Studying the role of regional hypermetabolism is needed to better understand its interaction with the motor symptoms of the disease. To investigate the association between brain hypometabolism and hypermetabolism with motor scores of patients with early HD. This study started in 2001, and analysis was completed in 2016. Sixty symptomatic patients with HD and 15 healthy age-matched control individuals underwent positron emission tomography to measure cerebral metabolism in this cross-sectional study. They also underwent the Unified Huntington's Disease Rating Scale motor test, and 2 subscores were extracted: (1) a hyperkinetic score, combining dystonia and chorea, and (2) a hypokinetic score, combining bradykinesia and rigidity. Statistical parametric mapping software (SPM5) was used to identify all hypo- and hypermetabolic regions in patients with HD relative to control individuals. Correlation analyses (P motor subscores and brain metabolic values were performed for regions with significant hypometabolism and hypermetabolism. Among 60 patients with HD, 22 were women (36.7%), and the mean (SD) age was 44.6 (7.6) years. Of the 15 control individuals, 7 were women (46.7%), and the mean (SD) age was 42.2 (7.3) years. In statistical parametric mapping, striatal hypometabolism was significantly correlated with the severity of all motor scores. Hypermetabolism was negatively correlated only with hypokinetic scores in the cuneus (z score = 3.95, P motor scores were associated with higher metabolic values in the inferior parietal lobule, anterior cingulate, inferior temporal lobule, the dentate nucleus, and the cerebellar lobules IV/V, VI, and VIII bilaterally corresponding to the motor regions of the cerebellum (z score = 3

  12. Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS: An Evolving Concept

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    Antonella Macerollo

    2013-09-01

    Full Text Available Pediatric autoimmune neuropsychiatric disorders associated with streptococcus infections (PANDAS originated from the observational work of Swedo and collaborators, who formalized their definition in 1998 in a set of operational criteria. The application of these criteria, which focuses on tics and obsessive-compulsive symptoms as core symptoms, has encountered difficulties, eventually leading to a high rate of misdiagnosis. In particular, the core feature represented by the association between newly diagnosed infections and neuropsychiatric symptom relapses in youths with this diagnosis could not be demonstrated by longitudinal studies. Exploratory studies aiming to identify clinical or cognitive features that could discriminate PANDAS from other pediatric obsessive-compulsive and tic disorders present methodological limitations, and therefore are not conclusive. Other behavioral features, in addition to obsessive-compulsive symptoms and tics, have been included in pediatric acute-onset neuropsychiatric syndromes (PANS and childhood acute neuropsychiatric syndromes (CANS, two new concepts recently proposed in order to define a much broader clinical spectrum encompassing etiologically diverse entities. Given the uncertainties on the clinical definition of PANDAS, it is not surprising that evidence in support of a post-infectious, immune-mediated pathophysiology is also insufficient. Anti-dopamine receptor antibodies might be relevant to both Sydenham’s chorea (SC—the prototypical post-streptococcal neuropsychiatric disorder—and some rare forms of encephalitis targeting the basal ganglia specifically, but studies exploring their association with children fulfilling Swedo’s criteria for PANDAS have been inconclusive. Moreover, we lack evidence in favor of the efficacy of antibiotic prophylaxis or tonsillectomy in patients fulfilling Swedo’s criteria for PANDAS, whereas a response to immune-mediated treatments like intravenous

  13. Risk of subsequent coronary heart disease in patients hospitalized for immune-mediated diseases: a nationwide follow-up study from Sweden.

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    Bengt Zöller

    Full Text Available BACKGROUND: Certain immune-mediated diseases (IMDs, such as rheumatoid arthritis and systemic lupus erythematosus, have been linked to cardiovascular disorders. We examined whether there is an association between 32 different IMDs and risk of subsequent hospitalization for coronary heart disease (CHD related to coronary atherosclerosis in a nationwide follow up study in Sweden. METHODS AND FINDINGS: All individuals in Sweden hospitalized with a main diagnosis of an IMD (n = 336,479 without previous or coexisting CHD, between January 1, 1964 and December 31 2008, were followed for first hospitalization for CHD. The reference population was the total population of Sweden. Standardized incidence ratios (SIRs for CHD were calculated. Overall risk of CHD during the first year after hospitalization for an IMD was 2.92 (95% CI 2.84-2.99. Twenty-seven of the 32 IMDs studied were associated with an increased risk of CHD during the first year after hospitalization. The overall risk of CHD decreased over time, from 1.75 after 1-5 years (95% CI 1.73-1.78, to 1.43 after 5-10 years (95% CI 1.41-1.46 and 1.28 after 10+ years (95% CI 1.26-1.30. Females generally had higher SIRs than males. The IMDs for which the SIRs of CDH were highest during the first year after hospitalization included chorea minor 6.98 (95% CI 1.32-20.65, systemic lupus erythematosus 4.94 (95% CI 4.15-5.83, rheumatic fever 4.65 (95% CI 3.53-6.01, Hashimoto's thyroiditis 4.30 (95% CI 3.87-4.75, polymyositis/dermatomyositis 3.81 (95% CI 2.62-5.35, polyarteritis nodosa 3.81 (95% CI 2.72-5.19, rheumatoid arthritis 3.72 (95% CI 3.56-3.88, systemic sclerosis 3.44 (95% CI 2.86-4.09, primary biliary cirrhosis 3.32 (95% CI 2.34-4.58, and autoimmune hemolytic anemia 3.17 (95% CI 2.16-4.47. CONCLUSIONS: Most IMDs are associated with increased risk of CHD in the first year after hospital admission. Our findings suggest that many hospitalized IMDs are tightly linked to coronary atherosclerosis.

  14. Discinesias induzidas por levodopa em 176 pacientes com doença de Parkinson Levodopa-induced dyskinesias in 176 parkisonian patients

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    Maria Sheila G. Rocha

    1995-12-01

    Full Text Available A ocorrência de discinesias dificulta consideravelmente o manuseio terapêutico dos pacientes parkinsonianos tratados com levodopa. Estudamos as características clínicas das discinesias em 176 pacientes com diagnóstico de doença de Parkinson e tratados com levodopa. As discinesias ocorreram, em média, após 6,2 anos de duração da doença e após 4,2 anos de tratamento com levodopa. A maioria dos pacientes (90% achava-se nos estágios II e III de Hoehn & Yahr por ocasião do início das discinesias. As discinesias mais frequentes foram as de "pico de dose" e "contínua". Movimento do tipo distônico ocorreu em 40% dos casos e predominou nas discinesias de "fim de dose" e "bifásica". Distonia matinal correspondeu a 35% dos casos de distonia. Movimentos coreiformes se manifestaram de forma generalizada em 43,2% dos casos. Movimentos distônicos predominaram nos membros inferiores. A discinesia, quando unilateral, ocorreu mais frequüentemente no hemicorpo mais comprometido pela doença de Parkinson. A discinesia orofacial, quando isolada, foi mais frequente nos pacientes mais idosos.Dyskinesias are frequently observed in parkinsonian patients during levodopa treatment. The occurrence of these movement disorders usually makes the therapeutic management of the patients very difficult. The clinical characteristics of 176 patients with dyskinesias were retrospectively studied. Dyskinesias occurred, on average, after 6,2 years of duration of Parkinson's disease and after 4.2 years on treatment with levodopa. Patients were more likely to have dyskinesias during more advanced stages (measured by Hoehn and Yahr scale. Peak of dose and square wave were the types of dyskinesia more frequently described and were associated with choreic movements in most cases. Dystonia occurred in 40% of the cases and was predominant in end of dose and diphasic dyskinesias. Thirty-five percent of dystonia cases presented as "early morning dystonia". Chorea was the

  15. Xyloketal-derived small molecules show protective effect by decreasing mutant Huntingtin protein aggregates in Caenorhabditis elegans model of Huntington’s disease

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    Zeng YX

    2016-04-01

    Full Text Available Yixuan Zeng,1,2,* Wenyuan Guo,1,* Guangqing Xu,3 Qinmei Wang,4 Luyang Feng,1,2 Simei Long,1 Fengyin Liang,1 Yi Huang,1 Xilin Lu,1 Shichang Li,5 Jiebin Zhou,5 Jean-Marc Burgunder,6 Jiyan Pang,5 Zhong Pei1,2 1Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, Guangdong Key Laboratory for Diagnosis and Treatment of Major Neurological Disease, The First Affiliated Hospital, Sun Yat-sen University, 2Guangzhou Center, Chinese Huntington’s Disease Network, 3Department of Rehabilitation, The First Affiliated Hospital, 4Key laboratory on Assisted Circulation, Ministry of Health, Department of Cardiovascular Medicine of the First Affiliated Hospital, 5School of Chemistry and Chemical Engineering, Sun Yat-sen University, Guangzhou, Guangdong, People’s Republic of China; 6Swiss Huntington’s Disease Center, Department of Neurology, University of Bern, Bern, Switzerland *These authors contributed equally to this work Abstract: Huntington’s disease is an autosomal-dominant neurodegenerative disorder, with chorea as the most prominent manifestation. The disease is caused by abnormal expansion of CAG codon repeats in the IT15 gene, which leads to the expression of a glutamine-rich protein named mutant Huntingtin (Htt. Because of its devastating disease burden and lack of valid treatment, development of more effective therapeutics for Huntington’s disease is urgently required. Xyloketal B, a natural product from mangrove fungus, has shown protective effects against toxicity in other neurodegenerative disease models such as Parkinson’s and Alzheimer’s diseases. To identify potential neuroprotective molecules for Huntington’s disease, six derivatives of xyloketal B were screened in a Caenorhabditis elegans Huntington’s disease model; all six compounds showed a protective effect. Molecular docking studies indicated that compound 1 could bind to residues GLN369 and GLN393 of the mutant Htt protein, forming a

  16. Clinical phenotype analysis of paroxysmal kinesigenic dyskinesia

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    Wo-tu TIAN

    2017-07-01

    Full Text Available Background Paroxysmal kinesigenic dyskinesia (PKD is a disorder characterized by recurrent and brief dystonic or choreoathetoid attacks that are induced by sudden voluntary movement with highly clinical and genetic heterogeneity. We aimed to investigate the clinical features of PKD in a large Chinese population. Methods One hundred and ninety five patients diagnosed as primary PKD were recruited. For all of the participants, neurological examinations were conducted and clinical manifestations were recorded and summarized in self - made uniform registration form for PKD patients. Clinical characteristics were statistically analyzed and compared between familial and sporadic PKD patients.  Results Among all of the 195 PKD patients in the present study, the gender ratio was 4.42∶1 (male∶ female. The average age of onset was (12.32 ± 3.49 years. There were 162 patients (83.08% manifestated with pure form and 33 (16.92% with complicated form of PKD. Among them 16 patients (8.21% had essential tremor (ET, and 144 patients (73.85% had premonitory symptom. The percentage of patients manifested as dystonia, chorea and mixed form during episodic attacks were 68.72% (134/195, 4.10% (8/195 and 27.18% (53/195 repectively. There were 134 cases (68.72% had facial involvement. It was recorded that 115 (58.97%, 54 (27.69% and 26 (13.33% patients had frequency of attack < 10 times/d, 10-20 times/d and > 20-30 times/d respectively. The percentages of patients whose duration of attack <10 s, 10-30 s and > 30-60 s were 60% (117/195, 29.74% (58/195 and 10.26% (20/195 respectively. There were 64 patietns (32.82% with family history of PKD and 131 (67.18% were sporadic PKD patients. Up to 40% (78/195 of patients did not require/take medications, as they had minor clinical manifestations or concerns about the side effects of anticonvulsants. Among 117 patients (60% prescribed with anticonvulsants, 114 patients showed a good response, including complete control (N

  17. A novel NREM and REM parasomnia with sleep breathing disorder associated with antibodies against IgLON5: a case series, pathological features, and characterization of the antigen

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    Sabater, Lidia; Gaig, Carles; Gelpi, Ellen; Bataller, Luis; Lewerenz, Jan; Torres-Vega, Estefanía; Contreras, Angeles; Giometto, Bruno; Compta, Yaroslau; Embid, Cristina; Vilaseca, Isabel; Iranzo, Alex; Santamaría, Joan; Dalmau, Josep; Graus, Francesc

    2014-01-01

    Summary Background Autoimmunity may be involved in sleep and neurodegenerative disorders. We aimed to describe a neurological syndrome with prominent sleep dysfunction and antibodies to a previously unknown neuronal antigen. Methods In this observational study, clinical and video-polysomnography (V- PSG) investigations identified a novel sleep disorder in three patients referred to the Sleep Unit of Hospital Clinic University of Barcelona for abnormal sleep behaviors and obstructive sleep apnea(OSA). They had antibodies against a neuronal surface antigen also present in five additional patients referred to our laboratory for antibody studies. These five patients had been evaluated with PSG and in two, the study was done or reviewed in our Sleep Unit. Two patients underwent postmortem brain examination. Immunoprecipitation and mass spectrometry were used to characterize the antigen and to develop a diagnostic test. Serum or CSF from 285 patients with neurodegenerative, sleep, or autoimmune disorders served as controls. Findings All eight patients (five women; range: 52–76 years, median 59) had abnormal sleep movements and behaviors and OSA confirmed by PSG. Six patients had a chronic evolution (range 2–12 years, median 5.5); in four the sleep disorder was the initial and most prominent feature, and in two it was preceded by gait instability, and followed by dysarthria, dysphagia, ataxia, or chorea. Two patients had a rapid evolution with disequilibrium, dysarthria, dysphagia, and central hypoventilation, and died two and six months after symptom onset. In 5/5 patients, the V-PSG reviewed in our Unit disclosed OSA, stridor, and abnormal sleep architecture with undifferentiated NREM sleep or poorly structured stage N2 with simple movements and finalistic behaviors, normalization of NREM sleep by the end of the night, and REM sleep behavior disorder. Four/4 patients carried the HLA-DRB1*1001 and HLA-DQB1*0501 alleles. All patients had antibodies (mainly IgG4

  18. Neurobiologia da síndrome de Tourette: a hipótese auto-imune pós-estreptocócica Neurobiology of Tourette's syndrome: the autoimmune post-streptococcal hypothesis

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    Fernando Machado Vilhena Dias

    2008-01-01

    Full Text Available CONTEXTO: A síndrome de Tourette (ST caracteriza-se pela presença de tiques motores e pelo menos um tique fônico. Algumas semelhanças clínicas com a coréia reumática ou de Sydenham (CS incentivaram a formulação da hipótese da existência de um grupo de transtornos neuropsiquiátricos associados a processo auto-imune decorrente de infecção estreptocócica (PANDAS. OBJETIVO: Revisar a literatura quanto às evidências em relação à hipótese de que mecanismos auto-imunes pós-estreptocócicos estão envolvidos na etiopatogênese da ST. MÉTODOS: Revisão sistemática na base de dados MedLine com os termos "Tourette", "tic", "PANDAS", "antibodies", "streptococcal" e "rheumatic". RESULTADOS: Retornaram 238 artigos da busca. Selecionaram-se 53 trabalhos, os quais tiveram suas referências bibliográficas também revisadas. São apresentados os resultados de estudos que avaliaram aspectos imunes na ST, incluindo anticorpos antiestreptocócicos e antinúcleos da base, e sua terapêutica imunebaseada, discutindo a validade do conceito de PANDAS. CONCLUSÕES: As evidências ainda não são satisfatórias no que tange a uma base auto-imune pós-estreptocócica para a ST. Um aprimoramento dos métodos investigativos e na seleção das amostras pode trazer maiores contribuições à questão.BACKGROUND: Tourette's syndrome (TS is characterized by the presence of motor tics and at least one phonic tic. Some clinical similarities with Sydenham's chorea (SC lead to the hypothesis of a new group of disorders associated with an autoimmune process due to a streptococcal infection (PANDAS. Objective: To review the literature in search of evidence on the existence of post-streptococcal autoimmune mechanisms involved with the etiopathogenesis of TS. METHODS: A systematic review with the terms "Tourette", "tic", "PANDAS", "antibodies", "streptococcal" and "rheumatic" was carried on using the MedLine. RESULTS: The search found 238 articles. Fifty and

  19. NEUROTRANSMITTERS AND IMMUNITY: 1. DOPAMINE

    Directory of Open Access Journals (Sweden)

    Lucian Hritcu

    2007-08-01

    Full Text Available Dopamine is one of the principal neurotransmitters in the central nervous system (CNC, and its neuronal pathways are involved in several key functions such as behavior (Hefco et al., 2003a,b, control of movement, endocrine regulation, immune response (Fiserova et al., 2002; Levite et al., 2001, Hritcu et al., 2006a,b,c, and cardiovascular function. Dopamine has at least five G-protein, coupled receptor subtypes, D1-D5, each arising from a different gene (Sibley et al., 1993. Traditionally, these receptors have been classified into D1-like (the D1 and D5 and D2-like (D2, D3 and D4 receptors subtypes, primarily according to their ability to stimulate or inhibit adenylate cyclase, respectively, and to their pharmacological characteristics (Seeman et al., 1993. Receptors for dopamine (particularly of D2 subclass are the primary therapeutic target in a number of neuropathological disorders including schizophrenia, Parkinson’s disease and Huntington’s chorea (Seeman et al., 1987. Neither dopamine by itself, nor dopaminergic agonists by themselves, has been shown to activate T cell function. Nevertheless, lymphocytes are most probably exposed to dopamine since the primary and secondary lymphoid organs of various mammals are markedly innervated, and contain nerve fibers which stain for tyrosine hydroxylase (Weihe et al., 1991, the enzyme responsible for dopamine synthesis. Moreover, cathecolamines and their metabolites are present in single lymphocytes and in extracts of T and B cell clones, and pharmacological inhibition of tyrosine hydroxylase reduces catecholamine levels, suggesting catecholamine synthesis by lymphocytes (Bergquist et al., 1994. The existence of putative dopamine receptors of D2, D3, D4 and D5 subtypes on immune cells has been proposed of several authors, primarily on the basis of dopaminergic ligand binding assays and specific mRNA expression as monitored by reverse transcription-PCR. Several experiments evoked the idea of a

  20. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

    LENUS (Irish Health Repository)

    Anheim, M

    2009-10-01

    Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha-feto-protein (AFP) serum level. We compiled a series of 67 previously reported and 58 novel ataxic patients who underwent senataxin gene sequencing because of suspected AOA2. An AOA2 diagnosis was established for 90 patients, originating from 15 countries worldwide, and 25 new senataxin gene mutations were found. In patients with AOA2, median AFP serum level was 31.0 microg\\/l at diagnosis, which was higher than the median AFP level of AOA2 negative patients: 13.8 microg\\/l, P = 0.0004; itself higher than the normal level (3.4 microg\\/l, range from 0.5 to 17.2 microg\\/l) because elevated AFP was one of the possible selection criteria. Polyneuropathy was found in 97.5% of AOA2 patients, cerebellar atrophy in 96%, occasional oculomotor apraxia in 51%, pyramidal signs in 20.5%, head tremor in 14%, dystonia in 13.5%, strabismus in 12.3% and chorea in 9.5%. No patient was lacking both peripheral neuropathy and cerebellar atrophy. The age at onset and presence of occasional oculomotor apraxia were negatively correlated to the progression rate of the disease (P = 0.03 and P = 0.009, respectively), whereas strabismus was positively correlated to the progression rate (P = 0.03). An increased AFP level as well as cerebellar atrophy seem to be stable in the course of the disease and to occur mostly at or before the onset of the disease. One of the two patients with a normal AFP level at diagnosis had high AFP levels 4 years later, while the other had borderline levels. The probability of missing AOA2 diagnosis, in case of sequencing senataxin gene only in non-Friedreich ataxia non-ataxia-telangiectasia ataxic patients with AFP level > or =7 microg\\/l, is 0.23% and the probability for a non-Friedreich ataxia non

  1. A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: a case series, characterisation of the antigen, and post-mortem study.

    Science.gov (United States)

    Sabater, Lidia; Gaig, Carles; Gelpi, Ellen; Bataller, Luis; Lewerenz, Jan; Torres-Vega, Estefanía; Contreras, Angeles; Giometto, Bruno; Compta, Yaroslau; Embid, Cristina; Vilaseca, Isabel; Iranzo, Alex; Santamaría, Joan; Dalmau, Josep; Graus, Francesc

    2014-06-01

    Autoimmunity might be associated with or implicated in sleep and neurodegenerative disorders. We aimed to describe the features of a novel neurological syndrome associated with prominent sleep dysfunction and antibodies to a neuronal antigen. In this observational study, we used clinical and video polysomnography to identify a novel sleep disorder in three patients referred to the Sleep Unit of Hospital Clinic, University of Barcelona, Spain, for abnormal sleep behaviours and obstructive sleep apnoea. These patients had antibodies against a neuronal surface antigen, which were also present in five additional patients referred to our laboratory for antibody studies. These five patients had been assessed with polysomnography, which was done in our sleep unit in one patient and the recording reviewed in a second patient. Two patients underwent post-mortem brain examination. Immunoprecipitation and mass spectrometry were used to characterise the antigen and develop an assay for antibody testing. Serum or CSF from 298 patients with neurodegenerative, sleep, or autoimmune disorders served as control samples. All eight patients (five women; median age at disease onset 59 years [range 52-76]) had abnormal sleep movements and behaviours and obstructive sleep apnoea, as confirmed by polysomnography. Six patients had chronic progression with a median duration from symptom onset to death or last visit of 5 years (range 2-12); in four the sleep disorder was the initial and most prominent feature, and in two it was preceded by gait instability followed by dysarthria, dysphagia, ataxia, or chorea. Two patients had a rapid progression with disequilibrium, dysarthria, dysphagia, and central hypoventilation, and died 2 months and 6 months, respectively, after symptom onset. In five of five patients, video polysomnography showed features of obstructive sleep apnoea, stridor, and abnormal sleep architecture (undifferentiated non-rapid-eye-movement [non-REM] sleep or poorly structured

  2. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

    Science.gov (United States)

    Anheim, M; Monga, B; Fleury, M; Charles, P; Barbot, C; Salih, M; Delaunoy, J P; Fritsch, M; Arning, L; Synofzik, M; Schöls, L; Sequeiros, J; Goizet, C; Marelli, C; Le Ber, I; Koht, J; Gazulla, J; De Bleecker, J; Mukhtar, M; Drouot, N; Ali-Pacha, L; Benhassine, T; Chbicheb, M; M'Zahem, A; Hamri, A; Chabrol, B; Pouget, J; Murphy, R; Watanabe, M; Coutinho, P; Tazir, M; Durr, A; Brice, A; Tranchant, C; Koenig, M

    2009-10-01

    Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha-feto-protein (AFP) serum level. We compiled a series of 67 previously reported and 58 novel ataxic patients who underwent senataxin gene sequencing because of suspected AOA2. An AOA2 diagnosis was established for 90 patients, originating from 15 countries worldwide, and 25 new senataxin gene mutations were found. In patients with AOA2, median AFP serum level was 31.0 microg/l at diagnosis, which was higher than the median AFP level of AOA2 negative patients: 13.8 microg/l, P = 0.0004; itself higher than the normal level (3.4 microg/l, range from 0.5 to 17.2 microg/l) because elevated AFP was one of the possible selection criteria. Polyneuropathy was found in 97.5% of AOA2 patients, cerebellar atrophy in 96%, occasional oculomotor apraxia in 51%, pyramidal signs in 20.5%, head tremor in 14%, dystonia in 13.5%, strabismus in 12.3% and chorea in 9.5%. No patient was lacking both peripheral neuropathy and cerebellar atrophy. The age at onset and presence of occasional oculomotor apraxia were negatively correlated to the progression rate of the disease (P = 0.03 and P = 0.009, respectively), whereas strabismus was positively correlated to the progression rate (P = 0.03). An increased AFP level as well as cerebellar atrophy seem to be stable in the course of the disease and to occur mostly at or before the onset of the disease. One of the two patients with a normal AFP level at diagnosis had high AFP levels 4 years later, while the other had borderline levels. The probability of missing AOA2 diagnosis, in case of sequencing senataxin gene only in non-Friedreich ataxia non-ataxia-telangiectasia ataxic patients with AFP level > or =7 microg/l, is 0.23% and the probability for a non-Friedreich ataxia non

  3. PANDAS: uma nova doença? PANDAS: a new disease?

    Directory of Open Access Journals (Sweden)

    Sheila Knupp Feitosa de Oliveira

    2007-06-01

    pediatric disease. The name of this new disease, supposedly of poststreptococcal etiology, derives from an acronym that stands for pediatric autoimmune neuropsychiatric disease associated with streptococcal infection. Tics and obsessive-compulsive symptoms are the major clinical signs of the disease, which develop after streptococcal infections, probably through autoimmune mechanisms. Even though these neuropsychiatric symptoms are common in rheumatic chorea, whose etiology is also poststreptococcal, the classic choreiform movements and other symptoms of rheumatic fevers are absent in PANDAS. The use of antimicrobial and immunologic therapy has been investigated and considered feasible in some cases. CONCLUSIONS: Further research is still necessary in order to answer the question posed in the title of this article. In the meantime, the identification of tic disorders and obsessive-compulsive disorders in children should include the possibility of PANDAS, seeking to provide evidence of previous streptococcal infection.

  4. Aspectos da gravidez e pós-parto de adolescentes portadoras de febre reumática Aspects of the pregnancy and post delivery of adolescents with rheumatic fever

    Directory of Open Access Journals (Sweden)

    Ana Julia Pantoja Moraes

    2004-09-01

    evaluated 510 patients, 123 (43% were female adolescents. Sixteen (13% patients became pregnant during this period, with a total of 19 gestations (one presented two gestations and another three; 14 realized the prenatal care appropriately. Age of the first gestation ranged from 14 to 19 years (mean 16.7; and age at the beginning of sexual activity ranged from 13 to 18 years (mean 15.2. Mitral insufficiency occurred in 15 cases associated with aortic insufficiency in 5. Intercurrent disease during prenatal care was observed in two patients: in one there was recurrence of RF with chorea and in the other HIV infection. Vaginal delivery occurred in seven adolescents, forceps delivery in three and cesarean in four: one with HIV, one with twin pregnancy and two with functional dystocia. Thirteen newborn were adequate for gestational age and only the twins were premature. In the postpartum, one patient presented infection in the surgical incision and another had mammary abscess. No patient reactivated RF in childbirth or postpartum. CONCLUSIONS: Pregnancies did not present cardiac decompensation, there was however predominance of mild valvulitis. Precocious sexual activity and greater incidence of pregnancy among adolescents are realities in the pediatric rheumatology clinics; consequently there is a need for improved orientation in relation to sexuality and use of birth-control methods in the routine of such services.

  5. Corticotrofina e cortiomdes em neurologia: avaliação critica dos resultados em 518 pacientes hospitalizados Corticotropin and corticosteroids in Neurology: critical evaluation of the results in 518 patients

    Directory of Open Access Journals (Sweden)

    J. Lamartine de Assis

    1968-12-01

    emprego. Em certos casos de evolução dramática o uso do ACTH e/ou corticóides torna-se quase imperativo.Based on the treatment with corticotrofin and corticosteroids of 518 patients admited at the "Clínica Neurológica do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo", in the period of 1952 to 1967, the authors performed a critical evaluation of the results obtained in several diseases of the nervous system: demyelinating diseases, polyradiculitis (Landry-Guillain-Barré syndrome, Sydenham's chorea, sabacute combined degeneration, hypsarrhytmia, myasthenia gravis, polymiositis, tuberculous meningitis and neurocysticercosis. ACTH or corticotrofin were employed intravenously or intramuscularly and the steroids were given orally or parenterally. The results with adrenal steroids or ACTH treatment were analysed under the treatment and preventive aspects. Concerning this aspect the analysis hás been limited, to tuberculous meningitis and neurocistycercosis cases. The evaluation of the therapeutic effects was based on clinical criterion and, when necessary, has been subordinated to an evolutive study concerning complementary examinations. Only immediate results based on general conditions of the patients at hospitalar discharge were reported. The authors conclude: 1. The corticotrofin and/or corticosteroids are used with favorable results in the treatment of several nervous system diseases as a therapeutic method as well as prophylactically. 2. Generally the results are difficult to evaluate and some times they depend on the nature and evolution of the disease and also on the period in which the treatment was established. 3. Regarding the therapeutic methods, the acute immunoallergic diseases or neuropathies with cyclical evolution those with a tendency to a progressive worsening and those with paroxystic manifestations responded in a better way to hormonal therapy. Some diseases which use to have an evolution with exacerbations and whose