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Sample records for chorea

  1. Chorea

    Science.gov (United States)

    ... levodopa, anti-convulsants, and anti-psychotics) metabolic and endocrine disorders, and vascular incidents. × Definition Chorea is an abnormal ... levodopa, anti-convulsants, and anti-psychotics) metabolic and endocrine disorders, and vascular incidents. View Full Definition Treatment There ...

  2. Sydenhams chorea

    DEFF Research Database (Denmark)

    Olesen, Charlotte; Jensen, Lise Lind; Balslev, Thomas;

    2007-01-01

    Sydenham's Chorea (SC), a major manifestation of acute Rheumatic Fever, is an important cause of acquired chorea in childhood. The disorder is characterized by chorea, muscular weakness and a number of neuropsychiatric symptoms. The diagnosis of SC is based on clinical observation. There have been...

  3. Sydenham's chorea

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    Bo ZHAO

    2014-07-01

    Full Text Available Sydenham's chorea (SC, as one of the most common children acquired chorea, is a characteristic clinical manifestation of rheumatic fever in nervous system. This article analyzed literatures with the disease at home and abroad in recent years, and summarized related knowledge of its etiology, pathogenesis, clinical manifestation, auxiliary examination, diagnosis and treatment. Furthermore, it presented the latest research progress in this field. Clinicians should be comprehensive in the analysis of patients' symptoms, signs and results of auxiliary examination, so as to fulfill early diagnosis and treatment. Consequently, effective control of the symptoms, shortening of the disease course and improvement of the prognosis can be achieved. doi: 10.3969/j.issn.1672-6731.2014.07.004

  4. Chorea caused by toxins.

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    Miyasaki, Janis M

    2011-01-01

    Chorea is uncommonly caused by toxins. Anecdotal evidence from cases of toxin-induced chorea assists in our understanding of neurodegenerative diseases associated with chorea. Beginning in medieval Europe with ergotism and the "fire that twisted people," spanning to crack dancing in contemporary times and the coexistence of alcohol abuse with chorea, toxins may exert direct effects to enhance mesolimbic dopamine transmission or indirect effects through gamma-aminobutyric acid modulation. The following chapter will discuss toxins associated with chorea and the presumed pathophysiology underlying the movement disorders in these case series.

  5. Antiphospholipid-related chorea

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    Silvio ePeluso

    2012-10-01

    Full Text Available Chorea is a movement disorder which may be associated with immunologic diseases, in particular in the presence of antiphospholipid antibodies (aPL. Choreic movements have been linked to the isolated presence of plasmatic aPL, or to primary or secondary antiphospholipid syndrome. The highest incidence of aPL-related chorea is detected in children and females. The presentation of chorea is usually subacute and the course monophasic. Choreic movements can be focal, unilateral, or generalized. High plasmatic titers of aPL in a choreic patient can suggest the diagnosis of aPL related-chorea; neuroimaging investigation does not provide much additional diagnostic information. The most relevant target of aPL is β2-glycoprotein I, probably responsible for the thrombotic manifestations of antiphospholipid syndrome. Etiology of the movement disorder is not well understood but a neurotoxic effect of aPL has been hypothesized, leading to impaired basal ganglia cell function and development of neuroinflammation. Patients affected by aPL-related chorea have an increased risk of thrombosis and should receive antiplatelet or anticoagulant treatment.

  6. Atypical recurrence of rheumatic chorea

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    Gunjan Pankaj Kumar

    2015-05-01

    Full Text Available Syndenhams Chorea in acute rheumatic fever is reported to occur in 20-30% of patients. It is usually late onset, occurring upto 6 months after acute infection but may occasionally be present as presenting symptom of rheumatic fever. It is a self-limiting condition with spontaneous remission lasting from 1 week to 6 months. The risk of recurrence is present in 1st 1-2 years in about 20% of cases. Most of children (two thirds with rheumatic fever are of school age (5-15 years of age. It is common in India and the incidence has not shown the declining trends seen in the developing countries. We report the clinical findings, investigations and the course of clinical development of a 14-year-old girl, who presented with Rheumatic chorea which recurred 3 years after the initial episode. [Int J Res Med Sci 2015; 3(5.000: 1272-1273

  7. Chorea-ballism associated with ketotic hyperglycemia.

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    Chen, Chunli; Zheng, Haiping; Yang, Li; Hu, Zhiping

    2014-12-01

    Chorea-ballism is a rare movement disorder characterized by irregular, poorly patterned, and involuntary movements, which are usually unilateral but may be bilateral or involve the extremities. The most common metabolic cause of transient chorea-ballism is nonketotic or ketotic hyperglycemia (NKHG or KHG, respectively). A meta-analysis and several reviews have identified clinical characteristics of NKHG-associated chorea-ballism; however, the characteristics of KHG-associated chorea-ballism remain unknown. We performed a search for studies of patients with KHG-associated chorea-ballism, published in MEDLINE between 1960 and May 2014, and identified 13 studies of 15 patients. Despite the limited number of cases, we identified some significant differences in the clinical and radiological characteristics between patients with KHG- or NKHG-induced chorea-ballism. Patients with KHG were significantly younger than patients with NKHG, and a higher percentage of patients with KHG had atypical or negative brain imaging findings for chorea-ballism compared to patients with NKHG. We recommend that blood glucose levels be tested on admission as a key diagnostic measure, to improve the early diagnosis of chorea-ballism. The best treatment for KHG-induced chorea-ballism is rapid glucose control with an insulin drip and, possibly, neuroleptics. The mechanisms of the disease are unclear, although the GABA theory, cerebrovascular insufficiency, and alterations of dopaminergic activity in the striatum might play important roles.

  8. Chorea as the presentating feature of neurosyphilis

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    Ozben Serkan

    2009-01-01

    Full Text Available Syphilis is still a significant public health problem in developing countries. Although chorea is a very rare manifestation of neurosyphilis, it might be on occasions the initial symptom. This report presents a patients with neurosyphilis who had chorea as the initial presenting symptom.

  9. Language Impairment in Adolescents with Sydenham Chorea

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    J. Gordon Millichap

    2015-12-01

    Full Text Available Investigators from hospitals in Brazil tested verbal fluency in 20 adolescent patients, ages ranged from 11 to 16 years (mean 13.8 years, with Sydenham chorea compared with 20 patients with rheumatic fever without chorea and 20 healthy controls, matched for age and gender.

  10. 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

  11. 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.

  12. Acute chorea associated with metoclopramide use.

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    Dubow, Jordan S; Leikin, Jerrold; Rezak, Michael

    2006-01-01

    Metoclopramide is a dopamine receptor antagonist that is used to treat diabetic gastroparesis, chemotherapy-induced nausea, and migraines. It is known to cause extrapyramidal side effects such as tardive dyskinesia, parkinsonism, dystonia, and akithisia, but not chorea. We describe a patient who presented with choreiform movements shortly after the administration of intravenous metoclopramide. Her work-up for secondary causes of chorea was otherwise negative and her symptoms abated with the administration of oral quetiapine and intravenous diazepam.

  13. Biochemical aspects of Huntington's chorea.

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    Caraceni, T; Calderini, G; Consolazione, A; Riva, E; Algeri, S; Girotti, F; Spreafico, R; Branciforti, A; Dall'olio, A; Morselli, P L

    1977-01-01

    Fifteen patients affected by Huntington's chorea were divided into two groups, 'slow' and 'fast', according to IQ scores on the Wechsler-Bellevue scale, and scores on some motor performance tests. A possible correlation was looked for between some biochemical data (cerebrospinal fluid (CSF), homovanillic acid (HVA), and 5-hydroxyindolacetic acid (5HIAA) levels, plasma dopamine-beta-hydroxylase (DBH), dopamine (DA) uptake by platelets), and clinical data (duration of illness, severity of symptoms, age of patients, IQ scores, 'slow' and 'fast' groups). The CSF, HVA, and 5HIAA levels were found to be significantly lowered in comparison with normal controls. DBH activity and DA uptake by platelets did not differ significantly from normal subjects. Treatment with haloperidol in all patients and with dipropylacetic acid in three patients did not appear to modify the CSF, HVA, and 5HIAA concentrations, the plasma DBH activity, or the DA uptake. There were no significant differences in the CSF, HVA, and 5HIAA contents between the two groups of patients, and there was no correlation between biochemical data and clinical features. PMID:143508

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

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    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 lab

  15. 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.

  16. Sydenham chorea and Hashimoto thyroiditis: an unusual association.

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    Yildiz, Ozlem Kayim; Gokcay, Ahmet; Gokcay, Figen; Karasoy, Hatice

    2010-06-01

    Sydenham chorea is an immune-mediated neuropsychiatric disorder associated with group A beta-hemolytic streptococci infection. The authors present a 12-year-old female patient with Sydenham chorea and Hashimoto thyroiditis. Although Hashimoto thyroiditis has been associated with other autoimmune disorders, the association of Sydenham chorea and Hashimoto thyroiditis has not been previously reported. Immunological processes are suggested to be implicated in the pathogenesis of this association; however, the exact mechanism remains unclear.

  17. [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.

  18. 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.

  19. Brain SPECT imaging in Sydenham's chorea

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    Barsottini O.G.P.

    2002-01-01

    Full Text Available The objective of the present study was to determine whether brain single-photon emission computed tomography (SPECT imaging is capable of detecting perfusional abnormalities. Ten Sydenham's chorea (SC patients, eight females and two males, 8 to 25 years of age (mean 13.4, with a clinical diagnosis of SC were submitted to brain SPECT imaging. We used HMPAO labeled with technetium-99m at a dose of 740 MBq. Six examinations revealed hyperperfusion of the basal ganglia, while the remaining four were normal. The six patients with abnormal results were females and their data were not correlated with severity of symptoms. Patients with abnormal brain SPECT had a more recent onset of symptoms (mean of 49 days compared to those with normal SPECT (mean of 85 days but this difference did not reach statistical significance. Brain SPECT can be a helpful method to determine abnormalities of the basal ganglia in SC patients but further studies on a larger number of patients are needed in order to detect the phase of the disease during which the examination is more sensitive.

  20. What is new in tics, dystonia and chorea?

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    Macerollo, Antonella; Martino, Davide

    2016-08-01

    Movement disorders comprise hyperkinetic involuntary movements (eg tremor, myoclonus, tics, dystonia and chorea) and hypokinetic (parkinsonism) disorders. Tics are cardinal features of primary tic disorders encompassing Tourette syndrome (TS), but are also found in some neurodegenerative conditions and may be induced by psychoactive substances. The first line treatment for tics is pharmacological (mainly dopamine receptor blockers or alpha-2 adrenergic agonists) and behavioural. Dystonia and chorea syndromes are considerably heterogeneous in aetiology, and age at onset, body distribution of the movement disorder, accompanying neurological motor and non-motor features, and systemic manifestations are all important to reach a correct aetiological diagnosis. While symptomatic pharmacological treatment remains the mainstay of treatment for choreas, deep brain stimulation surgery has a well-defined place in the management of medically refractory dystonia.

  1. Frequency and significance of vocalizations in Sydenham's chorea.

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    de Teixeira, Antonio Lúcio; Cardoso, Francisco; Maia, Débora P; Sacramento, Daniel R; Mota, Cleonice de Carvalho Coelho; Meira, Zilda Maria Alves; Lees, Andrew

    2009-01-01

    Sydenham's chorea (SC) is a complication of Streptococcus infection characterized by a combination of motor and non-motor features. We have investigated the presence of vocalizations in 89 consecutive patients with SC evaluated during a one-year period in the UFMG Movement Disorders Clinic. Seven (4/3 M/F) of the 89 patients (29/60 M/F) presented with simple vocalizations not preceded by premonitory sensations but in association with facial chorea in five patients. These findings suggest that vocalizations are not a common feature in SC and their phenomenology is quite distinct from the characteristics of vocal tics in tic disorders.

  2. Reduced 123I Ioflupane Binding in Bilateral Diabetic Chorea

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    Sato, Kenichiro; Hida, Ayumi; Kameyama, Masashi; Morooka, Miyako; Takeuchi, Sousuke

    2016-01-01

    Abstract We report a 64-year-old man with diabetic chorea whom we investigated with dopamine transporter SPECT, 18F FDG PET, 99mTc ethylcysteinate dimer (ECD) SPECT, and 123I metaiodobenzylguanidine (MIBG) scintigraphy. Dopamine transporter SPECT revealed reduced 123I ioflupane binding in the bilateral striatum. 18F FDG PET showed metabolic dysfunction in the bilateral striatum, as shown in earlier studies. 99mTc ECD SPECT revealed reduced brain perfusion in the bilateral caudate nucleus and putamen. 123I MIBG scintigraphy revealed no cardiac sympathetic nerve dysfunction. Our case suggests a possible nigrostriatal presynaptic dopaminergic involvement in diabetic chorea. PMID:26975011

  3. UFMG Sydenham's chorea rating scale (USCRS): reliability and consistency.

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    Teixeira, Antônio Lúcio; Maia, Débora P; Cardoso, Francisco

    2005-05-01

    Despite the renewed interest in Sydenham's chorea (SC) in recent years, there were no valid and reliable scales to rate the several signs and symptoms of patients with SC and related disorders. The Universidade Federal de Minas Gerais (UFMG) Sydenham's Chorea Rating Scale (USCRS) was designed to provide a detailed quantitative description of the performance of activities of daily living, behavioral abnormalities, and motor function of subjects with SC. The scale comprises 27 items and each one is scored from 0 (no symptom or sign) to 4 (severe disability or finding). Data from 84 subjects, aged 4.9 to 33.6 years, support the interrater reliability and internal consistency of the scale. The USCRS is a promising instrument for rating the clinical features of SC as well as their functional impact in children and adults.

  4. Chorea as the First Sign in a Patient with Elderly-Onset Systemic Lupus Erythematosus

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    Yuko Ariizumi

    2012-01-01

    Full Text Available The case of an elderly patient who had chorea as an initial symptom of systemic lupus erythematosus (SLE accompanied by antiphospholipid syndrome (APS is reported. A 68-year-old woman suddenly developed chorea of her left arm and leg. Magnetic resonance imaging (MRI of the brain demonstrated a focal lesion in the right caudate head, which showed hyperintensity on fluid-attenuated inversion recovery and diffusion-weighted imaging. This condition was thought to be a common form of vascular chorea, which is likely to occur in elderly individuals; however, the laboratory data of this patient finally fulfilled the diagnostic criteria of SLE and APS. Physicians should be careful in diagnosing elderly individuals simply as having a vascular chorea because this symptom can be the initial manifestation of SLE or APS.

  5. Clinical Diagnosis of Sydenham’s Chorea in Area Endemic for Acute Rheumatic Fever

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    J Gordon Millichap

    2006-04-01

    Full Text Available A retrospective chart review to determine the causes of childhood chorea was conducted in the Division of Allergy, Immunology and Infectious Disease at the Children’s Hospital of Pittsburgh, PA.

  6. Clinical, laboratory and electrophysiological features of Morvan's fibrillary chorea.

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    Lee, Will; Day, Timothy J; Williams, David R

    2013-09-01

    Morvan's Fibrillary Chorea (MFC) is a rare autoimmune disorder causally associated with auto-antibodies directed at the voltage-gated potassium channel (VGKC-Abs). It classically presents with sleep disturbances, neuromyotonia and dysautonomia. We aimed to systematically characterise the features of MFC by describing a patient and reviewing published literature. Case notes of 27 patients with MFC (one from our clinic and 26 from the literature) were reviewed and clinical data were extracted and analysed. We found that MFC mainly affects men (96%) and runs a subacute course over months. Neoplasia (56%), VGKC-Abs positivity (79%) and autoimmunity (41%) are frequent associations. Myokymia, insomnia and hyperhidrosis were almost universally described. Other autonomic features were present in 63% with the most common being cardiovascular and bowel disturbances. Clinical, radiological or electroencephalographical features of limbic encephalitis were present in 19% of patients. Outcome was fair with an overall recovery rate of 78%. All patients with malignancies underwent surgery. Immunotherapies including corticosteroids, intravenous immunoglobulins and plasma exchange were instituted in 22 patients and 19 (86%) responded. Of all symptomatic treatments tried, carbamazepine, phenytoin, sodium valproate, levetiracetam and niaprazine were found to be effective. The broad clinical spectrum of VGKC-Abs diseases can make early recognition of MFC difficult. Myokymia, insomnia and hyperhidrosis are invariably present. There may be abnormalities on cerebrospinal fluid testing and VGKC-Abs can occasionally be absent. Early initiation of immunotherapies and malignancy screening are important to prevent adverse outcomes in a condition that generally responds favourably to treatment.

  7. Hereditary chorea - what else to consider when the Huntington's disease genetics test is negative?

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    Malek, N; Newman, E J

    2017-01-01

    Chorea, cognitive, behavioural and psychiatric disturbance occur in varying combinations in Huntington's disease (HD). This is often easy to recognise particularly in the presence of an autosomal dominant history. Whilst HD may be the most common aetiology of such a presentation, several HD phenocopies should be considered if genetic testing for HD is negative. We searched PubMed and the Cochrane Database from January 1, 1946 up to January 1, 2016, combining the search terms: 'chorea', 'Huntington's disease', 'HDL' and 'phenocopies'. HD phenocopies frequently display additional movement disorders such as myoclonus, dystonia, parkinsonism and tics. Here, we discuss the phenotypes, and investigations of HD-like disorders where the combination of progressive chorea and cognitive impairment is obvious, but HD gene test result is negative. Conditions presenting with sudden onset chorea such as vascular, infectious and autoimmune causes are not the primary focus of our discussion, but we will make a passing reference to these as some of these conditions are potentially treatable. Hereditary forms of chorea are a heterogeneous group of conditions and this number is increasing. While most of these conditions are not curable, molecular genetic testing has enabled many of these disorders to be distinguished from HD. Getting a precise diagnosis may enable patients and their families to better understand the nature of their condition.

  8. 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.

  9. Chorea and Retinal Vessel Occlusion in A Patient with Systemic Lupus Erythematosus

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    Vahid Reza Ostovan

    2013-04-01

    Full Text Available Various neurological complications occur in primary or secondary antiphospholipid syndrome (APS consisting of cerebrovascular attacks, ocular events, dementia, seizure, chorea, and transverse myelopathy that are all related to the titer of antiphospholipid antibodies (aPL. We report a patient with chorea and retinal vessel occlusion as manifestations of systemic lupus erythematosus (SLE and APS. A 27-year-old man presented with progressive visual field defect and decreases visual acuity of right eye (OD as well as involuntary movements in both hands and slurred speech. Investigations led to the diagnosis of SLE and APS. Anticoagulant and immunosuppressant was started for him. As his condition improved, the prednisolone was gradually tapered. This is the first case report of concomitant retinal vessel occlusion and chorea in SLE and APS.

  10. [Fatty acid patterns and glucose tolerance in Huntington's chorea (author's transl)].

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    Schubotz, R; Hausmann, L; Kaffarnik, H; Zehner, J; Oepen, H

    1976-07-02

    Fatty acid patterns of plasma lipids and glucose-tolerance in Huntington's chorea. 25 patients with Huntington's chorea of various manifestation (9 predisposed symptomefree, 5 with light and 11 with severe manifestation) had studies of carbohydrate and lipid metabolism. These studies measured glucose-tolerance tests, insulin-, HGH-secretion, serum lipids and plasma fatty acid conposition of the cholesterylesters, triglycerides and phospholipids. The reactive insulin- but not HGH-levels were significantly raised, 32 % of the patients with Huntington's chorea had abnormal glucose-tolerance tests, compared with 3.2 % in a control group. Duration of symptoms correlated with higher cholesterol levels. Minor deviations were found in the fatty acid patterns in various lipid clases.

  11. 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.

  12. Erythrocyte membrane changes of chorea-acanthocytosis are the result of altered Lyn kinase activity

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    Franceschi, L. de; Tomelleri, C.; Matte, A.; Brunati, A.M.; Bovee-Geurts, P.H.M.; Bertoldi, M.; Lasonder, E.; Tibaldi, E.; Danek, A.; Walker, R.H.; Jung, H.H.; Bader, B.; Siciliano, A.; Ferru, E.; Mohandas, N.; Bosman, G.J.C.G.M.

    2011-01-01

    Acanthocytic RBCs are a peculiar diagnostic feature of chorea-acanthocytosis (ChAc), a rare autosomal recessive neurodegenerative disorder. Although recent years have witnessed some progress in the molecular characterization of ChAc, the mechanism(s) responsible for generation of acanthocytes in ChA

  13. Quadriparesis and dysarthria due to tetrabenazine therapy in a child with rheumatic chorea.

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    Zaki, Syed Ahmed; Lad, Vijay; Shanbag, Preeti

    2011-09-01

    Tetrabenazine (TBZ) is widely used to treat hyperkinetic movement disorders in adults; however, published experience with the drug in children is limited. Common side effects of TBZ include drowsiness, sedation, weakness, Parkinsonism, depression, and acute akathisia, all of which are reversible with decreased doses. We report here a 7-year-old girl with rheumatic chorea who developed acute akinesia of all four limbs and dysarthria due to TBZ therapy. Withdrawal of the drug led to rapid improvement within 18 hours.

  14. Sydenham's chorea and erythema marginatum as the first clinical presentation of acute rheumatic fever

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    Farhang Babamahmoodi

    2009-01-01

    Full Text Available (Received 5 February, 2009 ; Accepted 13 Jan, 2010AbstractAcute rheumatic fever is an acute systemic disease due to autoimmune reaction against some of BHSA. Similarity between bacterial antigens and cardiaciovascular tissue, synovial membrane, joints and subcutaneous tissues and cerebral basal ganglions are the causes of autoimmune reactions and manifestation of the disease. Most of the ARF occur in children (5-14 years old followed by streptococcal pharyngitis and the disease is very rare in adults.Sydenham's chorea is a late manifestation of ARF and one of the John's diagnostic criteria that is usually revealed when the other criteria are absent. There is often a long latent period between clinical manifestations of the ARF and the onset of chorea as an uncommon initial presentation of acute rheumatic fever. We report the clinical findings, investigations and the course of clinical development of a seventeen-year-old girl, who presented with acute onset of abnormal involuntary movements in her right hand for two days before her admission. She had sore throat and fever three weeks before development of these new problems. Her complaints disappeared with proper treatment. The considerable findings in this case report was co-incidence of Sydenham's chorea with erythema marginatum, fever, severe mitral valve insufficiency, arthralgia in an adult patient that is a very rare case. She was discharged after a 10-day treatment regime.Key words: Acute rheumatic fever, sydenham's chorea, erythema marginatumJ Mazand Univ Med Sci 2009; 20(74: 91-97 (Persian.

  15. Phenytoin induced chorea in a pediatric patient: An interaction between phenytoin, phenobarbital and clobazam

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    Manish Barvaliya

    2011-01-01

    Full Text Available A 3-year-old female patient developed chorea possibly due to an interaction between phenytoin, phenobarbital and clobazam used for generalized tonic clonic seizures. Phenytoin withdrawal resulted in recovery within 24 hours. Post reaction computerized tomography (CT-scan of brain was normal. Combined use of anti-seizure drugs and interactions between them may be responsible for the reaction. Therapeutic drug monitoring is important while prescribing two or more anti-seizure drugs.

  16. 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

  17. Quadriparesis and dysarthria due to tetrabenazine therapy in a child with rheumatic chorea

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    Syed Ahmed Zaki

    2011-01-01

    Full Text Available Tetrabenazine (TBZ is widely used to treat hyperkinetic movement disorders in adults; however, published experience with the drug in children is limited. Common side effects of TBZ include drowsiness, sedation, weakness, Parkinsonism, depression, and acute akathisia, all of which are reversible with decreased doses. We report here a 7-year-old girl with rheumatic chorea who developed acute akinesia of all four limbs and dysarthria due to TBZ therapy. Withdrawal of the drug led to rapid improvement within 18 hours.

  18. Coréia aguda na gravidez Acute chorea in pregnancy: comments on twelve consecutive cases

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    Walter C. Pereira

    1967-12-01

    Full Text Available São apresentados doze casos de coréia aguda observados entre 150.000 gestantes (1/12.500. A maioria dos surtos ocorreu no segundo trimestre da primeira gravidez. A duração média dos sintomas foi de três meses, não tendo sido registrado caso algum de óbito materno. Todos os partos foram espontâneos e normais. Houve apenas um óbito fetal conseqüente a choque hemorrágico. São tecidas considerações a propósito dos aspectos clínico, laboratorial e prognóstico da coréia gravídica, sendo focalizado mais pormenorizadamente o problema fisiopatogênico dessa afecção.Twelve consecutive cases of acute chorea occurring among 150.000 pregnant women (1/12.500 are reported. Most of the cases occurred from the fourth do the sixth month of the first pregnancy. The average duration of the symptoms was of three months and no one case of maternal death was verified in the group. The deliveries were spontaneous and normal in all the patients. Only one case of fetal death occurred in consequence of a hemorragic shock. Comments are made on the clinical, laboratorial and prognostic features of chorea gravidarum, being particulary focused the physiopathogenic problem of this condtion.

  19. Hysterical chorea: Report of an outbreak and movie documentation by Arthur Van Gehuchten (1861-1914).

    Science.gov (United States)

    Giménez-Roldán, Santiago; Aubert, Geneviève

    2007-06-15

    Psychogenic movement disorders remain a frequent and important clinical problem. First described in the Middle Ages, the dancing mania is considered to be one form of mass hysteria characterized by outbreaks of collective movement disorders. Patients may exhibit a wide variety of movement and gait disturbances, including tremulousness, jerks, or convulsions, usually with a sudden onset. Arthur Van Gehuchten (1861-1914), a distinguished Belgian neuroanatomist and neurologist, reported an outbreak of sudden involuntary movements in 13 adolescent girls residing in an orphanage. The description is to be found in his book Les Maladies nerveuses, completed before 1914 and published posthumously in 1920. The chapter is illustrated with sequential photographs of a girl exhibiting a peculiar gait, which is descriptively referred to as "chorée salutatoire" (saluting chorea). The original film with these pictures has been retrieved and is presented here together with a very similar film excerpt also found in Van Gehuchten's film collection. Van Gehuchten's movie documentation of a psychogenic movement disorder--labeled chorea but which should probably be considered as dystonia according to contemporary classification--appears to be unique. This report illustrates the tremendous value of moving pictures in recording and analyzing movement disorders.

  20. 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 claws

  1. [The initial testing and the discrimination property of the UFMG Sydenham's Chorea Rating Scale (USCRS)].

    Science.gov (United States)

    Teixeira, Antônio Lúcio; Maia, Débora Palma; Cardoso, Francisco

    2005-09-01

    Recently we developed and validated the Universidade Federal de Minas Gerais (UFMG) Sydenham's chorea Rating Scale (USCRS) to systematically assess SC patients. In this study, we assessed 97 children and adults with SC (mean age +/- SD, 15.5 +/- 5.9; male/female, 31/66) seen at the Movement Disorders Clinic at UFMG employing the USCRS. The patients were divided into 4 groups according to their clinical status: acute (n=19), recurrent (n=17), persistent (n=19) and remission (n=42). The mean +/- SEM USCRS scores for each group were: 47.7 +/- 4.7 for acute group, 29.5 +/- 2.6 for recurrent group, 17.6 +/- 3.1 for persistent group and 1.1 +/- 0.2 for remission group. All pair comparisons were statistically significant (p<0.05). Our results indicate that the USRSC can reasonably discriminate groups of SC patients in different clinical stages of the disease.

  2. 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

  3. Are sensory phenomena present in Sydenham's Chorea? Evaluation of 13 cases.

    Science.gov (United States)

    Rodopman-Arman, A; Yazgan, Y; Berkem, M; Eraksoy, M

    2004-08-01

    Sydenham's Chorea (SC) is an early complication of rheumatic fever caused by group A beta-hemolytic streptococcal infection that manifests itself with adventitious choreatic movements and behavioral problems. Sensory phenomena are the premonitory sensory experiences that are described prior to tics. Tic disorders and SC share common underlying neurobiological substrates, yet sensory phenomena have not previously been examined in SC. We aimed to explore the presence of sensory phenomena associated with choreatic movements in children with SC. Thirteen SC patients are examined on measures of sensory phenomena using a semi-structured instrument. 10 out of 13 patients described sensory phenomena. Five of the SC patients described sensory phenomena as "between physical and mental". The patients described physical feelings of tension in joints, tingling and trembling sensations on skin. 69 % of them described movements as "completely involuntary". Sites of choreatic movements that were consistently preceded by sensory phenomena were upper and lower extremities, and trunk. Children may have difficulty in articulating sensory phenomena due to the subjective nature of premonitory feelings in SC. We recommend exploring the sensory experiences that might accompany the choreatic movements in children with SC.

  4. Endocannabinoids and Neurodegenerative Disorders: Parkinson's Disease, Huntington's Chorea, Alzheimer's Disease, and Others.

    Science.gov (United States)

    Fernández-Ruiz, Javier; Romero, Julián; Ramos, José A

    2015-01-01

    This review focuses on the role of the endocannabinoid signaling system in controlling neuronal survival, an extremely important issue to be considered when developing new therapies for neurodegenerative disorders. First, we will describe the cellular and molecular mechanisms, and the signaling pathways, underlying these neuroprotective properties, including the control of glutamate homeostasis, calcium influx, the toxicity of reactive oxygen species, glial activation and other inflammatory events; and the induction of autophagy. We will then concentrate on the preclinical studies and the few clinical trials that have been carried out targeting endocannabinoid signaling in three important chronic progressive neurodegenerative disorders (Parkinson's disease, Huntington's chorea, and Alzheimer's disease), as well as in other less well-studied disorders. We will end by offering some ideas and proposals for future research that should be carried out to optimize endocannabinoid-based treatments for these disorders. Such studies will strengthen the possibility that these therapies will be investigated in the clinical scenario and licensed for their use in specific disorders.

  5. Acute Chorea Characterized by Bilateral Basal Ganglia Lesions in a Patient with Diabetic Nephropathy

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    İbrahim DOĞAN

    2015-09-01

    Full Text Available The syndrome of acute bilateral basal ganglia lesions associated with uremia presents with parkinsonism, altered mental status, and chorea in association with specific imaging findings in the basal ganglia. It is an uncommon syndrome seen generally in patients with diabetes mellitus and renal failure. We report a male patient with diabetes mellitus who received hemodialysis treatment 3 days a week for 5 years and suffered from choreic movements developed suddenly and associated with bilateral basal ganglia lesions. In the brain magnetic resonance (MR imaging, isointense was detected in sequence T1 in the bilateral basal ganglions and hyperintense lesion was determined in T2 and FLAIR sequences. The patient was administered daily hemodialysis and neuroleptic treatment. After intensified hemodialysis, his symptoms and follow-up brain MR imaging showed marked improvement. The underlying mechanism of such lesions may be associated with metabolic, as well as vascular factors. Acute choreic movements may be seen in patients with diabetic nephropathy and intensification of hemodialysis treatment along with blood glucose regulation may provide improvement in this syndrome.

  6. Auditory P300 Event-Related Potentials in Children with Sydenham?s Chorea

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    Hasan Hüseyin Ozdemir

    2014-08-01

    Full Text Available P300 event-related potentials (ERPs, objective measures related to cognitive processing, have not been studied in Sydenham’s chorea (SC patients. Purpose: To assess cognitive impairment with P300 ERPs. Method: Seventeen patients with SC and 20 unaffected healthy children were included. Stanford–Binet test was used for psychometric assessment, and odd-ball paradigm was used for auditory ERPs. Results: There was no significant difference in P300 latencies between the SC-pretreatment group, SC-posttreatment group and control group (p>0.05. Mean interpeak latencies in SC-pretreatment group and SC-posttreatment group showed significant prolongation compared with the control group (p<0.05. Mean interpeak latencies in SC-posttreatment group were significantly decreased compared with SC-pretreatment group (p<0.05. Compared to controls, patients did not show significant difference in Stanford-Binet intelligence examination. Conclusion: This report suggests that interpeak latencies and amplitudes of P300 ERPs could be useful for detecting and monitoring cognitive impairment in SC patients.

  7. Tetrabenazine as anti-chorea therapy in Huntington Disease: an open-label continuation study. Huntington Study Group/TETRA-HD Investigators

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    Frank Samuel

    2009-12-01

    Full Text Available Abstract Background Tetrabenazine (TBZ selectively depletes central monoamines by reversibly binding to the type-2 vesicular monoamine transporter. A previous double blind study in Huntington disease (HD demonstrated that TBZ effectively suppressed chorea, with a favorable short-term safety profile (Neurology 2006;66:366-372. The objective of this study was to assess the long-term safety and effectiveness of TBZ for chorea in HD. Methods Subjects who completed the 13-week, double blind protocol were invited to participate in this open label extension study for up to 80 weeks. Subjects were titrated to the best individual dose or a maximum of 200 mg/day. Chorea was assessed using the Total Maximal Chorea (TMC score from the Unified Huntington Disease Rating Scale. Results Of the 75 participants, 45 subjects completed 80 weeks. Three participants terminated due to adverse events (AEs including depression, delusions with associated previous suicidal behavior, and vocal tics. One subject died due to breast cancer. The other 26 subjects chose not to continue on with each ensuing extension for various reasons. When mild and unrelated AEs were excluded, the most commonly reported AEs (number of subjects were sedation/somnolence (18, depressed mood (17, anxiety (13, insomnia (10, and akathisia (9. Parkinsonism and dysphagia scores were significantly increased at week 80 compared to baseline. At week 80, chorea had significantly improved from baseline with a mean reduction in the TMC score of 4.6 (SD 5.5 units. The mean dosage at week 80 was 63.4 mg (range 12.5-175 mg. Conclusions TBZ effectively suppresses HD-related chorea for up to 80 weeks. Patients treated chronically with TBZ should be monitored for parkinsonism, dysphagia and other side effects including sleep disturbance, depression, anxiety, and akathisia. Trial Registration Clinicaltrials.gov registration number (initial study: NCT00219804

  8. Chorea as a clinical feature of the basophilic inclusion body disease subtype of fused-in-sarcoma-associated frontotemporal lobar degeneration.

    Science.gov (United States)

    Kawakami, Ito; Kobayashi, Zen; Arai, Tetsuaki; Yokota, Osamu; Nonaka, Takashi; Aoki, Naoya; Niizato, Kazuhiro; Oshima, Kenichi; Higashi, Shinji; Katsuse, Omi; Hosokawa, Masato; Hasegawa, Masato; Akiyama, Haruhiko

    2016-04-04

    Choreoathetoid involuntary movements are rarely reported in patients with frontotemporal lobar degeneration (FTLD), suggesting their exclusion as a supportive feature in clinical diagnostic criteria for FTLD. Here, we identified three cases of the behavioral variant of frontotemporal dementia (bvFTD) that display chorea with fused in sarcoma (FUS)-positive inclusions (FTLD-FUS) and the basophilic inclusion body disease (BIBD) subtype. We determined the behavioral and cognitive features in this group that were distinct from other FTLD-FUS cases. We also reviewed the clinical records of 72 FTLD cases, and clarified additional clinical features that are predictive of the BIBD pathology. Symptom onset in the three patients with chorea was at 44.0 years of age (±12.0 years), and occurred in the absence of a family history of dementia. The cases were consistent with a clinical form of FTD known as bvFTD, as well as reduced neurological muscle tone in addition to chorea. The three patients showed no or mild parkinsonism, which by contrast, increased substantially in the other FTLD cases until a later stage of disease. The three patients exhibited severe caudate atrophy, which has previously been reported as a histological feature distinguishing FTLD-FUS from FTLD-tau or FTLD-TAR DNA-binding protein 43. Thus, our findings suggest that the clinical feature of choreoathetosis in bvFTD might be associated with FTLD-FUS, and in particular, with the BIBD subtype.

  9. Chorein, the protein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin.

    Science.gov (United States)

    Shiokawa, Nari; Nakamura, Masayuki; Sameshima, Mieko; Deguchi, Akiko; Hayashi, Takehiro; Sasaki, Natsuki; Sano, Akira

    2013-11-08

    Chorea-acanthocytosis (ChAc) is an autosomal, recessive hereditary disease characterized by striatal neurodegeneration and acanthocytosis, and caused by loss of function mutations in the vacuolar protein sorting 13 homolog A (VPS13A) gene. VPS13A encodes chorein whose physiological function at the molecular level is poorly understood. In this study, we show that chorein interacts with β-adducin and β-actin. We first compare protein expression in human erythrocyte membranes using proteomic analysis. Protein levels of β-adducin isoform 1 and β-actin are markedly decreased in erythrocyte membranes from a ChAc patient. Subsequent co-immunoprecipitation (co-IP) and reverse co-IP assays using extracts from chorein-overexpressing human embryonic kidney 293 (HEK293) cells, shows that β-adducin (isoforms 1 and 2) and β-actin interact with chorein. Immunocytochemical analysis using chorein-overexpressing HEK293 cells demonstrates co-localization of chorein with β-adducin and β-actin. In addition, immunoreactivity of β-adducin isoform 1 is significantly decreased in the striatum of gene-targeted ChAc-model mice. Adducin and actin are membrane cytoskeletal proteins, involved in synaptic function. Expression of β-adducin is restricted to the brain and hematopoietic tissues, corresponding to the main pathological lesions of ChAc, and thereby implicating β-adducin and β-actin in ChAc pathogenesis.

  10. Huntington舞蹈病一家系临床遗传学分析%Clinical-Genetic Analysis of the Huntington Chorea

    Institute of Scientific and Technical Information of China (English)

    罗纯

    2012-01-01

    目的 通过分析Huntington舞蹈病一家系临床资料并对症前高风险成员进行再发风险预测,为该病的基因诊断和遗传咨询提供科学依据.方法 全面的家系调查、深入的系谱分析和主动的遗传优生咨询.结果 以先证者为线索深入调查此家系4代39人,家系中有Htington舞蹈病患者7例,3男4女;高风险者7名,需进一步进行基因诊断.结论 此病为常染色体显性遗传病;体现了延迟显性、遗传印记和遗传早现等遗传学特征;对家系高风险者进行婚育指导和症前、孕前、产前诊断对避免患儿的出生具有重要意义.%OBJECTIVE To analyze the clinical data of a Huntington Chorea family and predicting the recurrence risk before symptomatic recurrence for high-risk members, provide scientific basis for genetic disease diagnosis and counseling. METHODS Comprehensive family survey, in-depth genetic pedigree analysis and proactive eugenic counseling were conducted. RESULTS We took the proband as a clue to look into the four generations of a family with 39 people, 7 of them (3 males and 4 females) had Huntington Chorea, another 7 had high risk who were subjects to further genetic diagnosis. CONCLUSION The Huntington Chorea is autosomal dominant inheritance. It features delayed dominance, genetic imprinting, genetic anticipation and other genetic characteristics. For families at high risk, it is critical to provide guidance on marriage and child rearing, pre-pregnancy and prenatal diagnosis in order to avoid the birth of children with the disease.

  11. Cerebral neurotransmission in huntington's disease and wilson's disease; Zerebrale Neurotransmission bei Chorea Huntington und Morbus Wilson

    Energy Technology Data Exchange (ETDEWEB)

    Barthel, H.; Sabri, O. [Klinik und Poliklinik fuer Nuklearmedizin, Univ. Leipzig (Germany)

    2002-09-01

    Huntington's disease and Wilson's disease are hereditary disorders with different neuropsychiatric symptoms. In both cases, these symptoms are mainly attributed to functional alterations of neurons, which are located in the basal ganglia. According deficits have been found by investigating the dopaminergic neurotransmission with different PET and SPECT tracers. For both diseases, these deficits revealed to concordantly involve the pre- and postsynaptic compartment. Apart from the dopaminergic system, more recent studies showed alterations of other neurotransmitter systems, like the serotonergic, GABA-ergic and opioide system. Except for scientific studies, nuclear medicine imaging is not regularly required for primary diagnosis of both disorders. In the case of Huntington's disease, however, imaging can be helpful for differential diagnosis to other diseases with similar initial symptoms and to determine the organic manifestation of the gene defect. In addition, neurotransmitter imaging with radiortracers could gain more relevance in the future in supporting decisions on specific treatments or for therapy monitoring in both diseases. (orig.) [German] Bei der Chorea Huntington und dem Morbus Wilson handelt es sich um erbliche Erkrankungen mit unterschiedlicher neuropsychiatrischer Symptomatik, welche im Wesentlichen auf Funktionsstoerungen von im Basalganglienbereich lokalisierten Neuronen zurueckgefuehrt werden. Untersuchungen der dopaminergen Neurotransmission mit verschiedenen PET- und SPECT-Radiopharmaka ergaben dementsprechende Defizite, welche fuer beide Erkrankungen konkordant das prae- und postsynaptische Kompartment betrafen. Juengere Studien deuten darueber hinaus auf Stoerungen anderer Neurotransmitter-Systeme, wie z.B. des serotonergen, GABAergen und Opioid-Systems, hin. Ausserhalb von wissenschaftlichen Fragestellungen ist die nuklearmedizinische Bildgebung bei beiden Erkrankungen in der Primaerdiagnostik eher selten erforderlich. Im

  12. 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

  13. 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.

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    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

  14. Sydenham Chorea (Saint Vitus Dance)

    Science.gov (United States)

    ... beta-hemolytic streptococcus (GABHS), the bacterium that causes rheumatic fever. SD is characterized by rapid, irregular, and aimless ... the use of antibiotics to treat streptococcal infections, rheumatic fever, and consequently SD, are rare in North America ...

  15. Neurochemistry of striatum in chorea-acanthocytosis%舞蹈病-棘红细胞增多症的纹状体神经生化研究

    Institute of Scientific and Technical Information of China (English)

    刘佳; 王鲁宁; Thomas Arzberger; 朱明伟

    2016-01-01

    目的:探讨舞蹈病-棘红细胞增多症的纹状体神经生化改变。方法从尸检脑标本中,选取4例基因确诊的舞蹈病-棘红细胞增多症,2例基因确诊的亨廷顿病,以及4名正常对照。对其石蜡切片分别行脑啡肽、P物质、谷氨酸脱羧酶和Calbindin-D28k免疫组织化学染色。光镜下观察并使用软件行图像分析。结果壳核和尾状核的背侧部脑啡肽、P物质染色和谷氨酸脱羧酶染色在舞蹈病-棘红细胞增多症患者明显减低;Calbindin-D28k染色明显增加。与正常对照相比,舞蹈病-棘红细胞增多症患者苍白球外侧段脑啡肽[16%(4%)、20%(1%),Mann-Whitney U检验,Z=-2.337, P=0.029]、内侧段P物质[12%(3%)、22%(1%),Mann-Whitney U检验,Z=-2.352, P=0.029)和谷氨酸脱羧酶染色[25%(11%)、33%(4%),Mann-Whitney U检验,Z=-2.323, P=0.029]阳性终末像素单位所占百分比显著减低。结论舞蹈病-棘红细胞增多症患者纹状体P物质表达减低程度比脑啡肽更显著,Calbindin-D28k高表达可能对于神经元损伤具有代偿性的保护作用。%Objective To investigate the striatum neurochemistry in chorea-acanthocytosis(ChAc).Methods The brain samples of autopsy from 4 ChAc patients , 2 Huntington disease patients and 4 normal controls were collected.Immunostainings of enkephalin, substance P, glutamic acid decarboxylase (GAD) and Calbindin-D28k were carried out.Softwares were used to perform image and statistical analyses.Results In ChAc patients , the stainings of enkephalin , substance P and GAD were decreased , while the staining of Calbindin-D28k was increased.In comparison with normal controls , the staining of encephalin in the external segment of globus pallidus (16%(4%) vs 20%(1%),Mann-Whitney U test,Z=-2.337, P=0.029) and the stainings of substance P (12%(3%) vs 22%(1%),Mann-Whitney U test,Z=-2.352, P=0.029 ) and GAD in

  16. Huntington舞蹈病大脑免疫病理改变及其和痴呆精神异常的关系%Pathological and immunopathological changes in Chorea Huntington and their relationship to dementia and psychiatric symptoms

    Institute of Scientific and Technical Information of China (English)

    袁云; 陈清棠; 高唯一; 张巍; 戴三冬; 高素荣

    2001-01-01

    Objective To examine the distribution of ubiquitin positivestructures in brain of Chorea Huntington and pathological basis of cognitive and psychiatric symptoms in a large Northern-Chinese kindred.Methods A proband patient experienced a chronic onset of chorea with dementia at the age of 30 years. A few years later the patient developed psychiatric symptoms. He died at the age of 47 years. In his family there were 15 members from 5 generations who showed gradual dementia,progressive motor disability and psychiatric disturbance. Postmortem histological examination and immunohistochemical staining with antibodies against ubiquitin and Tau were performed in proband case. The distribution of ubiquitin positive dystrophic neurites and neuronal intranuclear inclusions were investigated. Results Morphologically,it was characterized by marked atrophy of bilateral striatum with loss of neurons and mild proliferation of astrocytes. Immunohistochemical study confirmed frequent appearance of ubiquitin positive neuronal intranuclear inclusions and dystrophic neurites in layer Ⅲ-V of cerebral cortex. The neuronal intranuclear ubiquitin positive inclusions usually associated with nuclear degeneration were more frequently found in frontal (22%) and parietal cortex (7%),less frequently in occipital (3%),temporal (1%) and limbic system (1%),but not found in hypocampus and striatum. Ubiquitin positive neurites distributed frequently in frontal cortex (over 5 per low field),less frequently in temporal and parietal cortex as well as limbic system (1-5 per low field),but occasionally in hypocampus and striatum. Conclusions Our study confirmed that the frequency of ubiquitin positive neuronal intranuclear inclusions and dystrophic neurites were varied markedly in different area of cerebral cortex. Owing to the marked neuropathological changes in frontal cortex,the cognitive symptoms should be considered as a frontal -subcortical dementia. The ubiquitin positive

  17. Genetics Home Reference: chorea-acanthocytosis

    Science.gov (United States)

    ... Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, ... L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini ...

  18. 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.

  19. 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

  20. Silencing Huntington's chorea: Is RNA Interference a Potential Cure?

    OpenAIRE

    Metz, Gerlinde A.; Whishaw, Ian Q.; Afra Foroud; Nafisa M Jadavji

    2006-01-01

    In 1872, George Huntington described Huntington's disease as characterized by motor, cognitive and psychiatric impairments. Huntington's disease is a dominant and autosomal mutation on chromosome 4 featuring the insertion of numerous CAG repeats. CAG codes for the amino acid, glutmanine that forms part of the Huntingtin protein (htt). Excess glutamine attachments make htt prone to accumulate in neurons. Three genes can be considered when developing therapies for Huntington's disease. They inc...

  1. Silencing Huntington's chorea: Is RNA Interference a Potential Cure?

    Directory of Open Access Journals (Sweden)

    Gerlinde A. Metz

    2006-01-01

    Full Text Available In 1872, George Huntington described Huntington's disease as characterized by motor, cognitive and psychiatric impairments. Huntington's disease is a dominant and autosomal mutation on chromosome 4 featuring the insertion of numerous CAG repeats. CAG codes for the amino acid, glutmanine that forms part of the Huntingtin protein (htt. Excess glutamine attachments make htt prone to accumulate in neurons. Three genes can be considered when developing therapies for Huntington's disease. They include targeting the symptoms of the disease, the progression of the disease and the cause of the disease. By using RNA interference (RNAi, the cause of the disease can be targeted. RNAi is a method that could potentially silence the formation of abnormal htt. This paper will discuss how RNAi could potentially cure Huntington's disease, by describing the genetic and proteinomic basis of Huntington's disease, the function of RNAi in Huntington's disease and the problems of benefits of RNAi. Preliminary work using RNAi in transgenic mice has shown a decrease in the behavioural expression of the mutant Huntington gene. There are several limitations associated with using RNAi as a gene therapy. For example, the effects of RNAi are short lived. A transposition system such as Sleeping Beauty can be used to increase the integration of the gene, however, for patients who currently have Huntington's disease, RNAi may potentially be used in combination with drugs or other treatments to target both symptoms and the underlying cause of Huntington's disease. This combination could eventually alleviate many painful symptoms associated with Huntington's disease and could even stop the progressive neurodegeneration of Huntington's disease. This review concludes that a substantial amount of new research is still necessary before RNAi is directly applicable to human patients with Huntington's disease.

  2. [Familial amyotrophic lateral sclerosis associated with Huntington chorea with increased aspartate level in the cerebrospinal fluid].

    Science.gov (United States)

    Blin, O; Samuel, D; Guieu, R; Pouget, J; Nieoullon, A; Serratrice, G

    1992-01-01

    We report the case of a patient who presented with both amyotrophic lateral sclerosis and Huntington's disease. Interestingly, aspartate level was increased in the lumbar CSF. In vitro and in vivo studies have convincingly suggested that these two neurodegenerative diseases could be related to an excitotoxic mechanism.

  3. INFANTILE CHOREA IN AN INFANT WITH SEVERE BRONCHOPULMONARY DYSPLASIA - AN EMG STUDY

    NARCIS (Netherlands)

    HADDERSALGRA, M; BOS, AF; MARTIJN, A; PRECHTL, HFR

    1994-01-01

    Recently a new movement disorder has been described which develops in some preterm infants with bronchopulmonary dysplasia. The present report provides a detailed description (including polyelectromyographical and serial cranial ultrasound findings) of this syndrome in a single infant. The authors s

  4. [Chorea due to TITF1/NKX2-1 mutation: phenotypical description and therapeutic response in a family].

    Science.gov (United States)

    Salvado, Maria; Boronat-Guerrero, Susanna; Hernández-Vara, Jorge; Álvarez-Sabin, José

    2013-05-16

    Introduccion. El corea por mutacion en el gen TITF1, tambien denominado corea hereditario benigno, es un trastorno autosomico dominante que suele iniciarse antes de los 5 anos. En la mayoria de casos, el corea tiende a mejorar con la edad. Puede asociar hipotiroidismo y problemas respiratorios, como el sindrome de distres respiratorio alveolar neonatal o la enfermedad pulmonar intersticial, ya que TITF1 es un factor de transcripcion esencial para el desarrollo del cerebro, tiroides y pulmon. Casos clinicos. Presentamos el fenotipo clinico de una familia con corea, en la cual dos hermanas presentan hipotiroidismo congenito, y una de ellas, sindrome de distres respiratorio alveolar. En ambas se identifico una mutacion en TITF1 (c.825delC) y se observo mejoria clinica en respuesta al tratamiento con levodopa-carbidopa en dosis bajas. Conclusiones. El corea por mutacion de TITF1 es una causa infradiagnosticada de corea en ninos. Debido a la posibilidad de realizar diagnostico genetico, creemos indicado realizarlo siempre en casos familiares dominantes, teniendo en cuenta la penetrancia variable, asi como en pacientes que presenten afectacion concomitante de pulmon o hipotiroidismo. En casos esporadicos, puede ser recomendable en coreas de causa no filiada, lo que nos permitira evitar otras pruebas, dar un pronostico no degenerativo, permitir un consejo genetico, y hacer ensayos terapeuticos mas dirigidos y eficaces. Por el momento, la levodopa parece el tratamiento sintomatico de eleccion.

  5. A unified rapid PCR method for detection of normal and expanded trinucleotide alleles of CAG repeats in huntington chorea and CGG repeats in fragile X syndrome.

    Science.gov (United States)

    Todorov, Tihomir; Todorova, Albena; Georgieva, Bilyana; Mitev, Vanyo

    2010-06-01

    We report on a unified rapid betaine-based-PCR protocol for amplification of the (CAG)n region in Huntington disease (HD) and the (CGG)n region in Fragile X syndrome (FXS), followed by an electrophoretic separation on automated sequencer for precise determination of the triplet numbers. The high betaine concentration (2.5 M betaine) permits precise amplification of the CAG and CGG repeats. Ten HD affected patients and 10 healthy individuals from HD families were re-evaluated. For FXS the CGG region in normal individuals and premutations of about 100 repeats were precisely amplified by this protocol. Ten unrelated FXS premutation carriers and 24 mentally retarded non-FXS affected boys were re-examined by this method. The results totally coincided with the previous ones. This protocol is a good choice as a fast screening test. Within 24 h we can have preliminary information on the patient's genetic status. Normal individuals, CGG premutation carriers up to 100 repeats, as well as HD patients carrying an expansion up to 50 CAG repeats can be easily clarified. This accounts for a relatively large proportion (about 90%) of the suspected HD and FXS patients, referred to our laboratory for genetic analysis. The calculation of the repeat's number is more accurate for the correct interpretation of the results, screening tests and genetic counselling.

  6. A STUDY ON THE BEHAVIOUR OF HUNTINGTON’S CHOREA RAT MODELS ON ROTAROD: TREATED WITH WITHANOLIDE A AND THE ETHANOLIC EXTRACT OF WITHANIA SOMNIFERA

    Directory of Open Access Journals (Sweden)

    C. Venkatramaniah

    2015-12-01

    Full Text Available Background: Huntington’s disease (HD is a fatal neurodegenerative disease named after George Summer Huntington who first described the disorder in 1872. Huntington’s disease is associated with basal ganglia degeneration which is called as the controlling center of extra pyramidal motor system that exerts an inhibitory effect on cerebral motor cortex. This will filters the unwanted motor movements and so refines the motor movements. Degeneration of neurons of basal ganglia reduces the inhibitory output and so leads to Huntington’s disease. At present there is no cure for this disease and trials are going on to treat symptoms, slow the progress of the disease and repairing the damages caused by disease. So there is a necessity to produce an animal model of HD by using a neurotoxin kainic acid for research purpose. By this study we produced a simple and effective rat model of HD which is more mimicking the human model of HD. We also analyzed the role of the extract of a herbal plant Withania somnifera and its active principle withanolide A in preventing the nervous system of HD rat models. Results: The activity of the herbal drug was analyzed by using rotarod apparatus. Both the drug group animals behaved normally in the rotarod against the lesion control animals and proved the efficacy of the drug employed. Conclusion: Present days treatments are mostly given to reduce the progress of HD and to treat the symptoms. Complete curation of HD is not up to the mark. But by taking these herbal drugs by daily basis we can prevent the occurrence of HD as these drugs are very good in neuroprotection.

  7. 小球藻处理养殖废水的初步研究%An Approach to the Treatment of Livestock Farming Wastewater by Ch/ore//a vu/gar/s

    Institute of Scientific and Technical Information of China (English)

    张强; 邹华; 余云龙; 郝女

    2011-01-01

    A set of simulation tests has been prepared to study the removal of organic compounds, total nitrogen and total phosphorus from livestock farming wastewater by Chlorella vulgaris under various environmental conditions. The results showed that Chlorella vulgaris could remove more nitrogen and phosphorus under light condition than in darkness whilst the degradation of organic compounds would carry out in opposite way. Higher efficiencies of nitrogen and phosphorus removal could be achieved when being shaken in darkness or placed stationarily in the light. Synergism of bacteria and Chlorella was found more effective than activated sludge or Chlorella alone in the wastewater treatment, in which Chlorella had played a major role in nitrogen and phosphorus removal.%为探讨不同环境条件及细菌对小球藻处理废水效果的影响,通过模拟试验,对小球藻去除养殖废水中有机物、总氮(TN)、总磷(TP)的能力进行了初步研究。结果表明:小球藻在光照条件下对TN、TP的去除效果较之黑暗条件下更优,但对有机污染物的降解能力下降。黑暗条件下的摇床振荡较之静置,更有利于TN.TP的去除,但光照条件下的TN,TP去除则以静置优于摇床振荡。菌藻协同处理废水可以获得比单纯藻或活性污泥更好的处理效果。

  8. Contribution of imaging studies and neuro physiologic investigations to the diagnosis of Huntington`s chorea; L`imagerie medicale et les explorations neuro-physiologiques dans le diagnostic de la choree de Huntington

    Energy Technology Data Exchange (ETDEWEB)

    Paquet, J.M.; Turpin, J.CI. [Centre Hospitalier Universitaire, 51 - Reims (France)

    1997-05-01

    Although Huntington`s disease was described in 1872, its diagnosis continues to rest on clinical grounds. Recently developed techniques for imaging the brain (computed tomography and magnetic resonance imaging) or studying its function (single photon emission computed tomography and positron emission tomography) have demonstrated only non specific abnormalities at the early stages of the disease, thus failing to improve the pre-symptomatic diagnosis. Neuro-physiologic investigations (evoked potentials, electromyogram, electroencephalogram) have been similarly unrewarding. Investigations are useful only as an laid to the differential diagnosis. Molecular biology technology is the only available tool for identifying high-risk individuals and establishing a definitive diagnosis of Huntington`s disease. (authors). 10 refs.

  9. Uncommon neurological manifestations of hemolytic anemia: A report of two cases

    Directory of Open Access Journals (Sweden)

    Ramu Chitela

    2008-01-01

    Full Text Available Neurological complications of hemolytic anemias are rather uncommon. We are reporting two cases of hemolytic anemia presenting as chorea and recurrent ischemic stroke. The first one is a case of chorea in a patient with sickle cell trait. Reviewing the literature we could find only one case report of chorea in sickle cell disease disease. The second is a case of recurrent ischemic stroke in hereditary spherocytosis. We could trace two reports on a Medline search, though their association was less certain.

  10. 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, epilep...sy), the PNS (axonal polyneuropathy), and the blood cells (acanthocytosis of the er

  11. Antiphospholipid Syndrome

    Science.gov (United States)

    ... the brain and causes a stroke. Other neurological symptoms include chronic headaches, dementia (similar to the dementia of Alzheimer’s disease), and seizures. Infrequently, individuals will develop chorea ( ...

  12. Brain-lung-thyroid disease: clinical features of a kindred with a novel thyroid transcription factor 1 mutation.

    Science.gov (United States)

    Ferrara, Joseph M; Adam, Octavian R; Kirwin, Susan M; Houghton, David J; Shepherd, Casey; Vinette, Kathy M B; Litvan, Irene

    2012-01-01

    Brain-lung-thyroid disease is a rare familial disorder caused by mutations in thyroid transcription factor 1, a gene that regulates neuronal migration. We report the clinical features of ten patients from a single family with a novel gene mutation, including observations regarding treatment. Neurologic features of the kindred included developmental delay, learning difficulties, psychosis, chorea, and dystonia. Three patients had a history of seizure, which has not been previously reported in genetically confirmed cases. Low-dose dopamine-receptor blocking drugs were poorly tolerated in 2 patients who received this therapy, levodopa improved chorea in 3 of 4 children, and diazepam was markedly effective in a single adult patient. Chorea related to brain-lung-thyroid disease appears to respond paradoxically to antidopaminergic drugs. The unusual therapeutic response seen in our patients and others may help elucidate how disease-related migratory deficits affect neural pathways associated with motor control.

  13. 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.

  14. Cerebrospinal fluid levels of diazepam-binding inhibitor in neurodegenerative disorders with dementia.

    Science.gov (United States)

    Ferrarese, C; Appollonio, I; Frigo, M; Meregalli, S; Piolti, R; Tamma, F; Frattola, L

    1990-04-01

    We investigated CSF levels of diazepam-binding inhibitor (DBI), a recently discovered neuropeptide that allosterically modulates GABAergic transmission, in various neurodegenerative disorders with dementia (28 patients with Parkinson's disease, 10 with Alzheimer's disease, 7 with Huntington's chorea). We applied a battery of neuropsychological tests to determine the degree of dementia and to exclude the presence of mood alterations. CSF DBI levels were elevated in parkinsonian subjects with dementia and in patients with Alzheimer's disease, but decreased in Huntington's chorea patients. We hypothesize that modifications of CSF DBI levels may be related to a functional or structural alteration of the GABAergic system.

  15. Should spinocerebellar ataxias be included in the differential diagnosis for Huntington's diseases-like syndromes?

    Science.gov (United States)

    Pedroso, José Luiz; de Freitas, Maria Eliza Thomaz; Albuquerque, Marcus Vinicius Cristino; Saraiva-Pereira, Maria Luiza; Jardim, Laura Bannach; Barsottini, Orlando G P

    2014-12-15

    In this article, we describe three patients with different spinocerebellar ataxia (SCA) subtypes presenting with unusual movement disorders predominantly characterized by choreoathetosis, which, together with their autosomal dominant pattern of inheritance, resembled the Huntington-like syndromes. From a large SCA cohort, we have observed chorea in 1/35 SCA2, 1/112 SCA3/MJD, and 1/30 SCA7 patients. Twenty-eight patients with SCA1, 11 patients with SCA6, and 3 patients with SCA10 were also evaluated, and none of them presented chorea. We provide a brief report of the three cases, with a video demonstrating chorea. Although a debate regarding the frequency of chorea in SCA patients is a fact, its occurrence, together with the autosomal dominant pattern of inheritance, clearly imposes SCA in the differentials of Huntington-like syndromes. There is some debate about what to include in a list of Huntington-like disorders, with several review articles about Huntington-like syndromes not including SCA in the differential diagnosis, except for SCA17. We believe that SCAs-at least SCA1, SCA2, SCA3/MJD, SCA7 and DRPLA-should be thought in the diagnostic workout of at least the atypical cases, such as those presented in this report.

  16. 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

    . 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...

  17. Difficult Diagnoses in Hyperkinetic Disorders – A Focused Review

    Directory of Open Access Journals (Sweden)

    Francisco eCardoso

    2012-10-01

    Full Text Available ABSTRACTHyperkinesias are heterogeneous conditions that share the feature of production of involuntary, abnormal, excessive movements. Tremor, dystonia, and chorea are amongst the most common of these phenomena. In this focused review there is a discussion of difficult issues in hyperkinesias. The first one is the differential diagnosis between essential tremor and Parkinson’s disease. They are readily distinguishable in the majority of patients but in a few subjects essential tremor coexist with parkinsonian features whose underlying mechanism remains to be determined. The second topic of the review is dystonic tremor. Although increasingly diagnosed and reported as accounting for the majority of SWEDDs, its diagnostic criteria are ill defined and differentiation from Parkinson’s disease and essential tremor can be challenging. In the last section, there is a discussion of the differential diagnosis of Sydenham’s chorea, the most common cause of chorea in children. In a few patients, vascular disease, systemic lupus erythematosus and primary antiphospholipid antibody syndrome can mimic Sydenham’s chorea.

  18. 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

  19. Chorein Sensitive Arrangement of Cytoskeletal Architecture

    Directory of Open Access Journals (Sweden)

    Sabina Honisch

    2015-08-01

    Full Text Available Background/Aims: Chorein is a protein expressed in various cell types. Loss of function mutations of the chorein encoding gene VPS13A lead to chorea-acanthocytosis, an autosomal recessive genetic disease characterized by movement disorder and behavioral abnormalities. Recent observations revealed that chorein is a powerful regulator of actin cytoskeleton in erythrocytes, platelets, K562 and endothelial HUVEC cells. Methods: In the present study we have used Western blotting to study actin polymerization dynamics, laser scanning microscopy to evaluate in detail the role of chorein in microfilaments, microtubules and intermediate filaments cytoskeleton architecture and RT-PCR to assess gene transcription of the cytoskeletal proteins. Results: We report here powerful depolymerization of actin microfilaments both, in erythrocytes and fibroblasts isolated from chorea-acanthocytosis patients. Along those lines, morphological analysis of fibroblasts from chorea-acanthocytosis patients showed disarranged microtubular network, when compared to fibroblasts from healthy donors. Similarly, the intermediate filament networks of desmin and cytokeratins showed significantly disordered organization with clearly diminished staining in patient's fibroblasts. In line with this, RT-PCR analysis revealed significant downregulation of desmin and cytokeratin gene transcripts. Conclusion: Our results provide for the first time evidence that defective chorein is accompanied by significant structural disorganization of all cytoskeletal structures in human fibroblasts from chorea-acanthocytosis patients.

  20. Hunting Down Lethal DNA

    Institute of Scientific and Technical Information of China (English)

    诸葛勤

    1994-01-01

    It’s only May, but 1993 has already seen the discovery of genes forHuntington’s chorea and for amyotrophic lateral sclerosis, often calledLou Gehrig’s disease after the American baseball player who became itsbest-known victim. Last week a team of 14 researchers announced the

  1. Paroxysmal kinesigenic dyskinesia : Cortical or non-cortical origin

    NARCIS (Netherlands)

    van Strien, Teun W.; van Rootselaar, Anne-Fleur; Hilgevoord, Anthony A. J.; Linssen, Wim H. J. P.; Groffen, Alexander J. A.; Tijssen, Marina A. J.

    2012-01-01

    Paroxysmal kinesigenic dyskinesia (PKD) is characterized by involuntary dystonia and/or chorea triggered by a sudden movement. Cases are usually familial with an autosomal dominant inheritance. Hypotheses regarding the pathogenesis of PKD focus on the controversy whether PKD has a cortical or non-co

  2. Movement disorders in childhood.

    Science.gov (United States)

    Cardoso, Francisco

    2014-01-01

    The aim of this article is to review movement disorders in children. They are common but have etiology and phenomenology different than in adults. Tics are the most common phenomena although in most instances they are mild and have a favorable long-term prognosis. Dystonia is the second most common phenomena but when present it is usually genetic or idiopathic and causes meaningful disability. Sydenham's chorea is the most common cause of chorea in children worldwide. Systemic lupus erythematosus is a much rarer cause of chorea but it is always to be ruled out given the lack of a specific diagnostic marker for Sydenham's chorea. Tremor, usually caused by drugs or essential tremor, is regarded as rather uncommon in children. Arguably, most pediatric patients with tremor do not seek medical attention because of the lack of disability. Stereotypies are relatively uncommon but their recognition is clinically relevant since they are usually associated with severe conditions such as autism and Rett syndrome. Parkinsonism is quite rare in children and either results from encephalitis or is a side effect of medications. Wilson's disease must be ruled out in all children with movement disorders.

  3. Psychiatric Patient History Taking and Nomenclature,

    Science.gov (United States)

    1981-01-01

    more frequently than other personality types. The obsessive-compulsive may be prone to depres- sion, the cyclothymic to hypomanic episodes, the schizoid ...Chorea, epilepsy, etc. 2. Predominance of interpersonal factors Transient situational disorder Marital maladjustment Personality disorders 3. Predominance...reactions and personality disorders . Colonel, later General, William Menninger took the lead in this revision. Perhaps another consideration in

  4. 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 benef

  5. Abnormal red cell features associated with hereditary neurodegenerative disorders: the neuroacanthocytosis syndromes

    NARCIS (Netherlands)

    Franceschi, L. De; Bosman, G.J.C.G.M.; Mohandas, N.

    2014-01-01

    PURPOSE OF REVIEW: This review discusses the mechanisms involved in the generation of thorny red blood cells (RBCs), known as acanthocytes, in patients with neuroacanthocytosis, a heterogenous group of neurodegenerative hereditary disorders that include chorea-acanthocytosis (ChAc) and McLeod syndro

  6. Plants and phytochemicals for Huntington′s disease

    Directory of Open Access Journals (Sweden)

    Sunayna Choudhary

    2013-01-01

    Full Text Available Huntington′s disease (HD is a neurodegenerative disorder characterized by progressive motor dysfunction, including chorea and dystonia, emotional disturbances, memory, and weight loss. The medium spiny neurons of striatum and cortex are mainly effected in HD. Various hypotheses, including molecular genetics, oxidative stress, excitotoxicity, metabolic dysfunction, and mitochondrial impairment have been proposed to explain the pathogenesis of neuronal dysfunction and cell death. Despite no treatment is available to fully stop the progression of the disease, there are treatments available to help control the chorea. The present review deals with brief pathophysiology of the disease, plants and phytochemicals that have shown beneficial effects against HD like symptoms. The literature for the current review was collected using various databases such as Science direct, Pubmed, Scopus, Sci-finder, Google Scholar, and Cochrane database with a defined search strategy.

  7. Plants and phytochemicals for Huntington's disease.

    Science.gov (United States)

    Choudhary, Sunayna; Kumar, Puneet; Malik, Jai

    2013-07-01

    Huntington's disease (HD) is a neurodegenerative disorder characterized by progressive motor dysfunction, including chorea and dystonia, emotional disturbances, memory, and weight loss. The medium spiny neurons of striatum and cortex are mainly effected in HD. Various hypotheses, including molecular genetics, oxidative stress, excitotoxicity, metabolic dysfunction, and mitochondrial impairment have been proposed to explain the pathogenesis of neuronal dysfunction and cell death. Despite no treatment is available to fully stop the progression of the disease, there are treatments available to help control the chorea. The present review deals with brief pathophysiology of the disease, plants and phytochemicals that have shown beneficial effects against HD like symptoms. The literature for the current review was collected using various databases such as Science direct, Pubmed, Scopus, Sci-finder, Google Scholar, and Cochrane database with a defined search strategy.

  8. 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

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

    Science.gov (United States)

    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 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. PMID:28224046

  10. Clinical and molecular research of neuroacanthocytosis

    Institute of Scientific and Technical Information of China (English)

    Lihong Zhang; Suping Wang; Jianwen Lin

    2013-01-01

    Neuroacanthocytosis is an autosomal recessive or dominant inherited disease characterized by widespread, non-specific nervous system symptoms, or spiculated "acanthocytic" red blood cells. The clinical manifestations typically involve chorea and dystonia, or a range of other movement disorders. Psychiatric and cognitive symptoms may also be present. The two core neuroacanthocytosis syndromes, in which acanthocytosis is atypical, are autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome. Acanthocytes are found in a smaller proportion of patients with Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration. Because the clinical manifestations are diverse and complicated, in this review we present features of inheritance, age of onset, neuroimaging and laboratory findings, as well as the spectrum of central and peripheral neurological abnormalities and extraneuronal involvement to help distinguish the four specific syndromes.

  11. Molecular diagnostic analysis for Huntington's disease: a prospective evaluation.

    OpenAIRE

    MacMillan, J C; Davies, P.; Harper, P S

    1995-01-01

    The availability of mutation analysis for the CAG repeat expansion associated with Huntington's disease has prompted clinicians in various specialties to request testing of samples from patients displaying clinical features that might be attributable to Huntington's disease. A series of 38 cases presenting with clinical features thought possibly to be due to Huntington's disease were analysed prospectively. In 53% of such cases presenting initially with chorea and 62.5% with psychiatric sympt...

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

    Science.gov (United States)

    Phukan, Julie; Ali, Elfatih; Pender, Niall P; Molloy, Fiona; Hennessy, Michael; Walsh, Ronan J; Hardiman, Orla

    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.

  13. Fahr’s Disease: A Case Report

    OpenAIRE

    İlhan Kılınç

    2007-01-01

    Fahr’s disease is characterized with presence of calcifications in basal ganglions, dentate nucleus, and centrum semiovale. Common clinical findings of the disease are Parkinsonism, dystonia, chorea, ataxia, dementia, and mood disorders. We present a patient, in whom a diagnosis of Fahr disease established, with clinical and radiological findings. Neurological and physical exam of the 56 year-old female with complaints of memory loss and speech disorder for one year. Brain CT showed Fahr type...

  14. 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.

  15. Huntington’s disease masquerading as spinocerebellar ataxia

    OpenAIRE

    Rodríguez-Quiroga, Sergio Alejandro; Gonzalez-Morón, Dolores; Garretto, Nelida; Kauffman, Marcelo Andres

    2013-01-01

    Huntington’s disease (HD) is a neurodegenerative disorder of the central nervous system characterised by the presence of choreic abnormal movements, behavioural or psychiatric disturbances and dementia. Noteworthy, despite atypical motor symptoms other than chorea have been reported as initial presentation in some patients, a very few number of HD patients, presenting at onset mostly cerebellar dysfunction masquerading dominant spinocerebellar ataxias (SCA), were occasionally reported. We rep...

  16. Jean-Martin Charcot Pathologist, Neurologist, Psychiatrist and Physician

    Directory of Open Access Journals (Sweden)

    Sanjay Pandey

    2012-01-01

    Full Text Available Jean-Martin Charcot is known as father of modern neurology. Before him, neurology was only limited to select disorders like chorea. His contributions were not limited to neurology only, as he was instrumental in many new developments in the field of pathology, psychiatry, and internal medicine. Even after 100 years, Charcot`s clinical methods remain the pillar of modern neurology.

  17. Targeting Cannabinoid CB2 Receptors in the Central Nervous System. Medicinal Chemistry Approaches with Focus on Neurodegenerative Disorders

    OpenAIRE

    Gema Navarro; Paula Morales; Carmen Rodríguez-Cueto; Javier Fernández-Ruiz; Nadine Jagerovic; Rafael Franco

    2016-01-01

    Endocannabinoids activate two types of specific G-protein-coupled receptors (GPCRs), namely cannabinoid CB1 and CB2. Contrary to the psychotropic actions of agonists of CB1 receptors, and serious side effects of the selective antagonists of this receptor, drugs acting on CB2 receptors appear as promising drugs to combat CNS diseases (Parkinson's disease, Huntington's chorea, cerebellar ataxia, amyotrohic lateral sclerosis). Differential localization of CB2 receptors in neural cell types and u...

  18. An Update on Tardive Dyskinesia: From Phenomenology to Treatment

    OpenAIRE

    Waln, Olga; Jankovic, Joseph

    2013-01-01

    Tardive dyskinesia (TD), characterized by oro-buccal-lingual stereotypy, can manifest in the form of akathisia, dystonia, tics, tremor, chorea, or as a combination of different types of abnormal movements. In addition to movement disorders (including involuntary vocalizations), patients with TD may have a variety of sensory symptoms, such as urge to move (as in akathisia), paresthesias, and pain. TD is a form of tardive syndrome—a group of iatrogenic hyperkinetic and hypokinetic movement diso...

  19. Huntington disease and Huntington disease-like in a case series from Brazil.

    Science.gov (United States)

    Castilhos, R M; Souza, A F D; Furtado, G V; Gheno, T C; Silva, A L; Vargas, F R; Lima, M-A F D; Barsottini, O; Pedroso, J L; Godeiro, C; Salarini, D; Pereira, E T; Lin, K; Toralles, M-B; Saute, J A M; Rieder, C R; Quintas, M; Sequeiros, J; Alonso, I; Saraiva-Pereira, M L; Jardim, L B

    2014-10-01

    The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD-like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2 (SCA2), SCA17, dentatorubral-pallidoluysian degeneration (DRPLA), benign hereditary chorea, neuroferritinopathy and chorea-acanthocytosis (CHAC), in a series of Brazilian families. Patients were recruited in seven centers if they or their relatives presented at least chorea, besides other findings. Molecular studies of HTT, ATXN2, TBP, ATN1, JPH3, FTL, NKX2-1/TITF1 and VPS13A genes were performed. A total of 104 families were ascertained from 2001 to 2012: 71 families from South, 25 from Southeast and 8 from Northeast Brazil. There were 93 HD, 4 HDL2 and 1 SCA2 families. Eleven of 104 index cases did not have a family history: 10 with HD. Clinical characteristics were similar between HD and non-HD cases. In HD, the median expanded (CAG)n (range) was 44 (40-81) units; R(2) between expanded HTT and age-at-onset (AO) was 0.55 (p=0.0001, Pearson). HDL2 was found in Rio de Janeiro (2 of 9 families) and Rio Grande do Sul states (2 of 68 families). We detected HD in 89.4%, HDL2 in 3.8% and SCA2 in 1% of 104 Brazilian families. There were no cases of HDL1, SCA17, DRPLA, neuroferritinopathy, benign hereditary chorea or CHAC. Only six families (5.8%) remained without diagnosis.

  20. Huntington’s Disease and Striatal Signaling

    OpenAIRE

    Roze, Emmanuel; Cahill, Emma; Martin, Elodie; Bonnet, Cecilia; Vanhoutte, Peter; Betuing, Sandrine; Caboche, Jocelyne

    2011-01-01

    Huntington’s Disease (HD) is the most frequent neurodegenerative disease caused by an expansion of polyglutamines (CAG). The main clinical manifestations of HD are chorea, cognitive impairment, and psychiatric disorders. The transmission of HD is autosomal dominant with a complete penetrance. HD has a single genetic cause, a well-defined neuropathology, and informative pre-manifest genetic testing of the disease is available. Striatal atrophy begins as early as 15 years before disease onset a...

  1. Lack of Association between Anti-Phospholipid Antibodies (APLA) and Attention Deficit/Hyperactivity Disorder (ADHD) in Children

    OpenAIRE

    Yael Leitner; Isaac Vinograd; Yehuda Shoenfeld; Miriam Katz; Yair Levy; Shay Bujanover

    2003-01-01

    Numerous studies have shown the pathological influence anti-phospholipid antibodies (APLA) have on the physiology of the single neuron as well as the function of the entire human nervous system. The influence is well demonstrated in the antiphospholipid syndrome (APS). This syndrome is characterized by a triad of arterial or venous thrombotic events, recurrent fetal loss and thrombocytopenic purpura. The syndrome exhibits different neurological pathologies such as: chorea, seizures, transvers...

  2. Max Bielschowsky (1869–1940)

    OpenAIRE

    2014-01-01

    Berlin neurologist and neurohistologist Max Bielschowsky counts among the most innovative microanatomical researchers at the beginning of the twentieth century. Although being quite underrated in the history of neurology today, Bielschowsky contributed substantially to the understanding of neurohereditary pathologies, such as Alzheimer’s disease, Parkinsonism, and Huntington’s chorea, as well as the assessment of structural changes in several movement disorders. Working with other leading res...

  3. Advances in the pharmacological management of Huntington's disease.

    Science.gov (United States)

    Frank, Samuel; Jankovic, Joseph

    2010-03-26

    There is inevitable physical, cognitive and behavioural decline in Huntington's disease (HD), a dominantly inherited progressive neurological disorder. The hallmark of the disease is chorea, an involuntary brief movement that tends to flow between body regions. HD is diagnosed clinically with genetic confirmation. Predictive testing is available; however, it should be undertaken with caution in patients at risk for the disease but without clinical disease expression. Ongoing observational trials have identified not only early subtle motor signs, but also striatal volume, verbal memory and olfaction as possible early manifestations of clinical disease. Multiple areas of the brain degenerate, with dopamine, glutamate and GABA being the predominant neurotransmitters affected in HD. Although many pharmacotherapies have been evaluated targeting these neurotransmitters, few well conducted trials for symptomatic or neuroprotective interventions have yielded positive results. Tetrabenazine is one of the better studied and more effective agents for reducing chorea, although with a risk of potentially serious adverse effects. Newer antipsychotic agents such as olanzapine and aripiprazole may have adequate efficacy with a more favourable adverse-effect profile than older antipsychotics for treating chorea and psychosis. In this review, the pathogenesis, epidemiology and diagnosis of HD are discussed as background for understanding potential pharmacological treatment options. Potential strategies to delay the progression of HD that have been studied and are planned for the future are summarized. Although there is no current method to change the course of this devastating disease, education and symptomatic therapies are effective tools available to clinicians and the families affected by HD.

  4. Treatment of Huntington's disease.

    Science.gov (United States)

    Frank, Samuel

    2014-01-01

    Huntington's 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 family members 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 interventions have yielded positive results and current treatments have focused on the motor aspects of HD. Tetrabenazine 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 neuroleptic agents, such as olanzapine and aripiprazole, may have adequate efficacy with a more favorable adverse effect profile than older neuroleptic agents for treating chorea and psychosis. 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.

  5. Tetrabenazine: Spotlight on Drug Review

    Science.gov (United States)

    Kaur, Navneet; Kumar, Puneet; Jamwal, Sumit; Deshmukh, Rahul; Gauttam, Vinod

    2016-01-01

    Background Tetrabenazine (TBZ) is the only US Food and Drug Administration-approved drug for the treatment of chorea related to Huntington's disease and other hyperkinetic disorders. TBZ was first synthesized in 1950, and was then used for the treatment of psychosis. But later its potential in treating hyperkinetic disorders was proved by its ability to block vesicular monoamine transporters 2 and deplete monoamine stores. There is still lack of awareness about the therapeutic potential of this drug. Summary TBZ had been approved only for the treatment of chorea, but several clinical studies have been conducted by different research groups and it was concluded that TBZ is effective in various other conditions such as tardive dyskinesia, dystonia, tics, and Tourette's syndrome, thus, highlighting the need for further clinical trials in these conditions. Key Message The intention of this review is to sum up the information regarding chemistry, mechanism of action, pharmacokinetics, interactions, contraindications, adverse effects, and clinical efficacy of TBZ in diseases other than Huntington's chorea.

  6. 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

  7. Rheumatic fever, autoimmunity, and molecular mimicry: the streptococcal connection.

    Science.gov (United States)

    Cunningham, Madeleine W

    2014-01-01

    The group A streptococcus, Streptococcus pyogenes, and its link to autoimmune sequelae, has acquired a new level of understanding. Studies support the hypothesis that molecular mimicry between the group A streptococcus and heart or brain are important in directing immune responses in rheumatic fever. Rheumatic carditis, Sydenham chorea and a new group of behavioral disorders called pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections are reviewed with consideration of autoantibody and T cell responses and the role of molecular mimicry between the heart, brain and group A streptococcus as well as how immune responses contribute to pathogenic mechanisms in disease. In rheumatic carditis, studies have investigated human monoclonal autoantibodies and T cell clones for their crossreactivity and their mechanisms leading to valve damage in rheumatic heart disease. Although studies of human and animal sera from group A streptococcal diseases or immunization models have been crucial in providing clues to molecular mimicry and its role in the pathogenesis of rheumatic fever, study of human monoclonal autoantibodies have provided important insights into how antibodies against the valve may activate the valve endothelium and lead to T cell infiltration. Passive transfer of anti-streptococcal T cell lines in a rat model of rheumatic carditis illustrates effects of CD4+ T cells on the valve. Although Sydenham chorea has been known as the neurological manifestation of rheumatic fever for decades, the combination of autoimmunity and behavior is a relatively new concept linking brain, behavior and neuropsychiatric disorders with streptococcal infections. In Sydenham chorea, human mAbs and their expression in transgenic mice have linked autoimmunity to central dopamine pathways as well as dopamine receptors and dopaminergic neurons in basal ganglia. Taken together, the studies reviewed provide a basis for understanding streptococcal sequelae and

  8. Phenotypic insights into ADCY5‐associated disease

    Science.gov (United States)

    Chang, Florence C.F.; Westenberger, Ana; Dale, Russell C.; Smith, Martin; Pall, Hardev S.; Perez‐Dueñas, Belen; Grattan‐Smith, Padraic; Ouvrier, Robert A.; Mahant, Neil; Hanna, Bernadette C.; Hunter, Matthew; Lawson, John A.; Max, Christoph; Sachdev, Rani; Meyer, Esther; Crimmins, Dennis; Pryor, Donald; Morris, John G.L.; Münchau, Alex; Grozeva, Detelina; Carss, Keren J.; Raymond, Lucy; Kurian, Manju A.; Klein, Christine

    2016-01-01

    ABSTRACT Background Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal‐dominant chorea and dystonia; and benign hereditary chorea. We provide detailed clinical data on 7 patients from six new kindreds with mutations in the ADCY5 gene, in order to expand and define the phenotypic spectrum of ADCY5 mutations. Methods In 5 of the 7 patients, followed over a period of 9 to 32 years, ADCY5 was sequenced by Sanger sequencing. The other 2 unrelated patients participated in studies for undiagnosed pediatric hyperkinetic movement disorders and underwent whole‐exome sequencing. Results Five patients had the previously reported p.R418W ADCY5 mutation; we also identified two novel mutations at p.R418G and p.R418Q. All patients presented with motor milestone delay, infantile‐onset action‐induced generalized choreoathetosis, dystonia, or myoclonus, with episodic exacerbations during drowsiness being a characteristic feature. Axial hypotonia, impaired upward saccades, and intellectual disability were variable features. The p.R418G and p.R418Q mutation patients had a milder phenotype. Six of seven patients had mild functional gain with clonazepam or clobazam. One patient had bilateral globus pallidal DBS at the age of 33 with marked reduction in dyskinesia, which resulted in mild functional improvement. Conclusion We further delineate the clinical features of ADCY5 gene mutations and illustrate its wide phenotypic expression. We describe mild improvement after treatment with clonazepam, clobazam, and bilateral pallidal DBS. ADCY5‐associated dyskinesia may be under‐recognized, and its diagnosis has important prognostic, genetic, and therapeutic implications. © 2016 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society PMID:27061943

  9. Fahr’s disease with bipolar mood disorder presentation (Case report)

    OpenAIRE

    Azari, P.

    2006-01-01

    Fahr’s disease is a progressive and idiopathic basal ganglia calcification with normal metabolism of calcium and phosphore with motor and psychiatric sings and symptoms. Dementi, chorea attetosise, psychosis and depression due to Fahr’s disease are frequently reported, but Fahr’s disease with bipolar mood disorder manifestation is very rare and we found only 3 cases in review of literature from 1995 to 2005. In this case report, a 21-years old girl is presented who was admitted to Sari-Zare p...

  10. Atypical Parkinsonism Revealing a Late Onset, Rigid and Akinetic Form of Huntington's Disease

    Directory of Open Access Journals (Sweden)

    A. Ciammola

    2011-01-01

    Full Text Available Huntington's disease (HD is a rare hereditary neurodegenerative disorder characterized in over 90 percent of cases by chorea as the presenting motor symptom. We report a 54-year-old male who presented with Parkinsonism as the initial symptom of the disease. Genetic analysis revealed expansion of 40 CAG repeats, and brain MRI showed both severe caudate nuclei and cortical atrophy. Single-photon emission computed tomography (SPECT imaging of the dopamine transporter showed nigrostriatal pathway degeneration. Here, we also describe his 2 years of clinical followup after ensuing dopaminergic stimulation.

  11. [Primary antiphospholipid syndrome and cerebrovascular disturbances].

    Science.gov (United States)

    Kalashnikova, L A

    2005-01-01

    Neurological, including cecbrovascular, disorders frequently emerge in primary antiphospholipid syndrome (PAS). Clinical peculiarities of PAS were studied in 113 patients with cerebrovascular disturbances. Its had mainly ischemic patogenesis. Structure of cerebrovascular disorders was as follows: stroke (33% cases), transient ischemic lesions (10%), its combination (57%), thrombosis of brain venous sinuses (3%), vascular dementia (27%). Besides it were found epileptic seizures, peripheral neuropathy, headache, chorea and some symptoms of myasthenia, parkinsonism, multiple sclerosis and psychotic disorders. In all cases antibodies to phospholipids have been detected. Secondary prophylaxis includes regular use of anticoagulants and small doses of aspiriny.

  12. An Assessment of the Health Risks of Seven Pesticides Used for Termite Control.

    Science.gov (United States)

    1982-08-01

    N9SS±4-SI-C-S161 UNCLASSIFIED F/B 6/29 9L HIM AG1.8 11.25 . 1. MICROCOPY RESOLUIION TESI CHARI NAII A N A RIPAi 0 A flTA h ’N" AM ASSESSMENT OF THE...Three cases of aplastic anemia and three cases of acute leukemia associated with chlordane exposure were diagnosed in the same period. The five...investigators should look for signs of neurotoxicity--such as seizures, movement disorders, tremors, and chorea--and for signs of anemia and diseases

  13. Positron-emissionstomografisk kortlaegning af den levende menneskehjernes receptorer

    DEFF Research Database (Denmark)

    Gjedde, A

    2001-01-01

    tracers are used in diseases of the basal ganglia, whereas serotonin, benzodiazepine, and opiate tracers are used in lesions of the cerebral cortex. PET has revealed loss of dopaminergic terminals and dopamine synthetic capacity in Parkinson's disease, MPTP intoxication, and Lesch-Nyhan's syndrome...... receptors in Alzheimer's disease, and benzodiazepine and opiate receptors in stroke, epilepsy, and Huntington's chorea; altered opiate receptors in chronic pain and drug abuse; and release of opiates in analgesia; but changes in serotonin synthesis, transport, and binding in affective or psychotic disorders...

  14. [The research advance of brain derived neurotrophic factor].

    Science.gov (United States)

    Liu, Z; Chen, J

    2000-12-01

    Recent research advances in neuroscience show that neurotrophic factors are proteins that affect selectively various kinds of neurons of CNS and PNS. Brain derived neurotrophic factor (BDNF) is another neurotrophic factor that was first reported by Barde, a German chemist, thirty years later after the nerve growth factor had been found out. BDNF plays an important role in the growth, development, differentiation, maintenance and regeneration of various types of neurons in the CNS and has potential application to the treatment of brain injury and neurodegenerative diseases such as Alzheimer's disease, Parkinson's syndrome, Huntington's chorea and amyotrophic lateral sclerosis. In this paper, the structure, function and potential clinical application of BDNF were reviewed.

  15. 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.

  16. 6: Movement disorders II: the hyperkinetic disorders.

    Science.gov (United States)

    Rice, J E; Thompson, P D

    2001-04-16

    Involuntary movements or hyperkinesias are classified into syndromes of chorea, ballism, tremor, dystonia, myoclonus and tics. The hyperkinesias are caused by disturbances in the circuitry connecting the cerebral cortex, thalamus, basal ganglia and cerebellum. Drugs are a common cause of movement disorders. The aim of management is to characterise the movement disorder, identify and treat the cause or institute symptomatic treatment. The genetic basis of many movement disorders is increasingly recognised. Where there are potential implications for family members, accurate diagnosis and counselling are particularly important.

  17. The Pathogenic Role of Low Range Repeats in SCA17.

    Directory of Open Access Journals (Sweden)

    Jung Hwan Shin

    Full Text Available SCA17 is an autosomal dominant cerebellar ataxia with expansion of the CAG/CAA trinucleotide repeats in the TATA-binding protein (TBP gene. SCA17 can have various clinical presentations including parkinsonism, ataxia, chorea and dystonia. SCA17 is diagnosed by detecting the expanded CAG repeats in the TBP gene; however, in the literature, pathologic repeat numbers as low as 41 overlap with normal repeat numbers.The subjects in this study included patients with involuntary movement disorders such as cerebellar ataxia, parkinsonism, chorea and dystonia who visited Seoul National University Hospital between Jan. 2006 and Apr. 2014 and were screened for SCA17. Those who were diagnosed with other genetic diseases or nondegenerative diseases were excluded. DNA from healthy subjects who did not have a family history of parkinsonism, ataxia, psychiatric symptoms, chorea or dystonia served as the control. In total, 5242 chromosomes from 2099 patients and 522 normal controls were analyzed.The total number of patients included in the analysis was 2099 (parkinsonism, 1706; ataxia, 345; chorea, 37; and dystonia, 11. In the normal control, up to 44 repeats were found. In the 44 repeat group, there were 7 (0.3% patients and 1 (0.2% normal control. In 43 repeat group, there were 8 (0.4% patients and 2 (0.4% normal controls. In the 42 repeat group, there were 16 (0.8% patients and 3 (0.6% normal controls. In 41 repeat group, there were 48 (2.3% patients and 8 (1.5% normal controls. Considering the overlaps and non-significant differences in allelic frequencies between the patients and the normal controls with low-expansions, we could not determine a definitive cutoff value for the pathologic CAG repeat number of SCA17.Because the statistical analysis between the normal controls and patients with low range expansions failed to show any differences so far, we must consider that clinical cases with low range expansions could be idiopathic movement disorders showing

  18. Management of Huntington’s disease: role of tetrabenazine

    Directory of Open Access Journals (Sweden)

    Marina de Tommaso

    2011-03-01

    Full Text Available Marina de Tommaso, Claudia Serpino, Vittorio SciruicchioNeurological and Psychiatric Sciences Department, University of Bari Aldo Moro, Bari, ItalyAbstract: Huntington’s disease (HD is an autosomal dominant neurodegenerative disorder characterized by progressive involuntary movements, neuropsychiatric disturbances, and cognitive impairment. The use of tetrabenazine (TBZ, a specific inhibitor of vesicular monoamine transporter, is approved for chorea in HD patients. We aimed to review the medical literature concerning the efficacy and tolerability of TBZ in the treatment of HD patients and to report our personal experience about TBZ use in a cohort of HD patients. We searched PubMed (1960 to July 2010 using the following keywords: “tetrabenazine” + “huntington’s disease + chorea”. We included randomized controlled trials, open-label trials, and retrospective studies. We excluded case reports and studies conducted on fewer than 20 patients. In addition, we retrospectively evaluated 2 years’ follow-up of TBZ treatment on motor and cognitive performances and functional abilities in 28 HD patients, compared with 10 patients treated by other neuroleptics (clotiapine. Only four papers fulfilled the requested criteria. In the first study, which included 84 randomized outpatients, TBZ showed a significant improvement of chorea compared with placebo. In the open-label study extension, TBZ confirmed its efficacy on chorea, with a frequent occurrence of withdrawals due to side effects. In a retrospective study of long-term efficacy, 63 patients under TBZ therapy for an average period of 34 months showed a stable effect on chorea, despite a slight reduction of effect over time. In a telephone survey conducted on a total of 118 patients affected by different movement disorders, TBZ showed the most favorable effect for the 28 included HD patients. Our HD patients showed a slight deterioration of motor performances over time that was

  19. 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.

  20. Fahr disease with atypical presentation: A report of two cases

    Directory of Open Access Journals (Sweden)

    Suzan Tunç

    2010-05-01

    Full Text Available Fahr’s disease is a rare disorder where bilateral, almost symmetric, calcium and other mineral deposits occur in basal ganglia, cerebellar dentate nucleus and white matter. Common clinical findings of the disease are characterizing parkinsonism, dystonia, chorea, ataxia and psychiatric symptoms. Fahr’s disease is associated with various metabolic disorders especially with parathyroid disorders. In this article a 65 year old female patient with vision loss and headache, bilateral basal ganglia and cerebellar calsification on Computerized Tomography examination and a 45 year old female patient with convulsive state and bilateral caudat nucleus calcification on Computerized Tomography examination were reported.

  1. 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.

  2. Post-mortem Findings in Huntington’s Deep Brain Stimulation: A Moving Target Due to Atrophy

    Science.gov (United States)

    Vedam-Mai, Vinata; Martinez-Ramirez, Daniel; Hilliard, Justin D.; Carbunaru, Samuel; Yachnis, Anthony T.; Bloom, Joshua; Keeling, Peyton; Awe, Lisa; Foote, Kelly D.; Okun, Michael S.

    2016-01-01

    Background Deep brain stimulation (DBS) has been shown to be effective for Parkinson’s disease, essential tremor, and primary dystonia. However, mixed results have been reported in Huntington’s disease (HD). Case Report A single case of HD DBS was identified from the University of Florida DBS Brain Tissue Network. The clinical presentation, evolution, surgical planning, DBS parameters, clinical outcomes, and brain pathological changes are summarized. Discussion This case of HD DBS revealed that chorea may improve and be sustained. Minimal histopathological changes were noted around the DBS leads. Severe atrophy due to HD likely changed the DBS lead position relative to the internal capsule. PMID:27127722

  3. Accidental haloperidol poisoning in children

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    Mona P Gajre

    2012-01-01

    Full Text Available Haloperidol, a butyrophenone neuroleptic drug, is an antipsychotic used in the treatment of adult schizophrenia and mania. It is used in children with neurological disorders like chorea and developmental disorders such as hyperactivity. With the advent of newer selective neuroleptics use of haloperidol is now on decline. However, in adults it is still the preferred drug especially in resource challenged settings. Extrapyramidal reactions occur frequently with haloperidol predominantly as parkinsonian symptoms. There are few case reports of accidental haloperidol poisoning in children and this one of them.

  4. Factors related to genetic testing in adults at risk for Huntington disease: the prospective Huntington at-risk observational study (PHAROS).

    Science.gov (United States)

    Quaid, K A; Eberly, S W; Kayson-Rubin, E; Oakes, D; Shoulson, I

    2016-10-14

    Huntington disease (HD) is a late onset ultimately fatal neurodegenerative disorder caused by a cytosine-adenine-guanine ( CAG) triplet repeat expansion in the Huntingtin gene which was discovered in 1993. The PHAROS study is a unique observational study of 1001 individuals at risk for HD who had not been previously tested for HD and who had no plans to do so. In this cohort, 104 (10%) individuals changed their minds and chose to be tested during the course of the study but outside of the study protocol. Baseline behavioral scores, especially apathy, were more strongly associated with later genetic testing than motor and chorea scores, particularly among subjects with expanded CAG repeat length. In the CAG expanded group, those choosing to be tested were older and had more chorea and higher scores on the behavioral section of the unified Huntington's disease rating scale at baseline than those not choosing to be tested. Following genetic testing, 56% of subjects with CAG testing, but depression generally stayed the same or increased for 64% of subjects in the expanded group. This finding suggests that approaches to testing must continue to be cautious, with appropriate medical, psychological and social support.

  5. Antiphospholipid antibody syndrome presenting with hemichorea.

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    Ayalew, Yezenash; Khattak, Fazlihakim

    2012-01-01

    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.

  6. Sex differences in Parkinson's disease and other movement disorders.

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    Smith, Kara M; Dahodwala, Nabila

    2014-09-01

    Movement disorders including Parkinson's disease (PD), Huntington's disease (HD), chorea, tics, and Tourette's syndrome (TS) display sex differences in disease susceptibility, disease pathogenesis, and clinical presentation. PD is more common in males than in females. Epidemiologic studies suggest that exposure to endogenous and exogenous estrogen contributes to these sex differences. There is extensive evidence that estrogen prevents dopaminergic neuron depletion induced by neurotoxins in PD animal models and therefore is neuroprotective. Estrogen may also decrease the efficacy of other neuroprotective substances such as caffeine in females but not males. Sex chromosomes can exert effects independent of sex steroid hormones on the development and maintenance of the dopamine system. As a result of hormone, chromosome and other unknown effects, there are sexual dimorphisms in the basal ganglia, and at the molecular levels in dopaminergic neurons that may lead to distinct mechanisms of pathogenesis in males and females. In this review, we summarize the evidence that estrogen and selective estrogen receptor modulators are neuroprotective in PD and discuss potential mechanisms of action. We also briefly review how sex differences in basal ganglia function and dopaminergic pathways may impact HD, chorea, and tics/Tourette's syndrome. Further understanding of these sex differences may lead to novel therapeutic strategies for prevention and treatment of these diseases.

  7. Movement disorders associated with moyamoya disease: a report of 4 new cases and a review of literatures.

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    Baik, Jong Sam; Lee, Myung Sik

    2010-07-30

    The aim of this study was to define the clinical characteristics of patients who developed movement disorders in association with moyamoya disease (MMD). Using PubMed and medical records of our hospital from 1985 to 2008, we searched for patients who developed movement disorders in association with MMD. This study included 38 patients described in previous studies and 4 patients found in the medical records. The onset of movement disorders was thought to be sudden. In 13 patients, the movement disorders were precipitated by hyperventilation or emotional stress. Twenty-seven of the 42 patients developed chorea, 4 patients developed dystonia, and 4 developed a mixture of both. The movement disorders of the remaining 7 patients were described as dyskinesia. A third of the 42 patients developed bilateral movement disorders, and their mean age was younger than that of those with unilateral movement disorders. In 37 of the 42 patients, brain imaging studies showed ischemic lesions, but the remaining 5 patients showed no parenchymal lesions. Cerebral perfusion studies showed hypoperfusion in the basal ganglia and in the cerebral cortical areas. Most patients improved whether they were treated or not. MMD must be included in the differential diagnosis of the sudden onset of dyskinesias, particularly chorea and focal dystonia. Even in patients with no parenchymal lesion in brain imaging studies, cerebral angiography and cerebral blood perfusion studies must be performed, if they develop a sudden onset or recurrent movement disorders preceded by emotional stress or hyperventilation.

  8. The relevance of "non-criteria" clinical manifestations of antiphospholipid syndrome: 14th International Congress on Antiphospholipid Antibodies Technical Task Force Report on Antiphospholipid Syndrome Clinical Features.

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    Abreu, Mirhelen M; Danowski, Adriana; Wahl, Denis G; Amigo, Mary-Carmen; Tektonidou, Maria; Pacheco, Marcelo S; Fleming, Norma; Domingues, Vinicius; Sciascia, Savino; Lyra, Julia O; Petri, Michelle; Khamashta, Munther; Levy, Roger A

    2015-05-01

    The purpose of this task force was to critically analyze nine non-criteria manifestations of APS to support their inclusion as APS classification criteria. The Task Force Members selected the non-criteria clinical manifestations according to their clinical relevance, that is, the patient-important outcome from clinician perspective. They included superficial vein thrombosis, thrombocytopenia, renal microangiopathy, heart valve disease, livedo reticularis, migraine, chorea, seizures and myelitis, which were reviewed by this International Task Force collaboration, in addition to the seronegative APS (SN-APS). GRADE system was used to evaluate the quality of evidence of medical literature of each selected item. This critical appraisal exercise aimed to support the debate regarding the clinical picture of APS. We found that the overall GRADE analysis was very low for migraine and seizures, low for superficial venous thrombosis, thrombocytopenia, chorea, longitudinal myelitis and the so-called seronegative APS and moderate for APS nephropathy, heart valve lesions and livedo reticularis. The next step can be a critical redefinition of an APS gold standard, for instance derived from the APS ACTION registry that will include not only current APS patients but also those with antiphospholipid antibodies not meeting current classification criteria.

  9. Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype

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    Guilherme Riccioppo Rodrigues

    2011-06-01

    Full Text Available Huntington's disease (HD is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical HD phenotype without the expected mutation. The objective of this study was to assess the occurrence of diseases such as Huntington's disease-like 2 (HDL2, spinocerebellar ataxia (SCA 1, SCA2, SCA3, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA and chorea-acanthocytosis (ChAc among 29 Brazilian patients with a HD-like phenotype. In the group analyzed, we found 3 patients with HDL2 and 2 patients with ChAc. The diagnosis was not reached in 79.3% of the patients. HDL2 was the main cause of the HD-like phenotype in the group analyzed, and is attributable to the African ancestry of this population. However, the etiology of the disease remains undetermined in the majority of the HD negative patients with HD-like phenotype.

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

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    Vonk, Jan J.; 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 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(2)P, 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. PMID:28107480

  11. Neuroferritinopathy: update on clinical features and pathogenesis.

    Science.gov (United States)

    McNeill, Alisdair; Chinnery, Patrick F

    2012-08-01

    Neuroferritinopathy is an autosomal dominant extra - pyramidal movement disorder caused by mutations in the ferritin light chain gene (FTL). The most frequent presentation is with chorea (50%), followed by dystonia (42.5 %) and parkinsonism (7.5%). Seven different mutations are known; 6 insertions in exon 4 and a missense mutation in exon 3 with the 460insA mutation in exon 4 being the most common. Brain magnetic resonance imaging demonstrates iron deposition in the basal ganglia and cavitation. Neuropathological studies have shown neuronal loss in the cerebral cortex, cerebellum and basal ganglia. Ferritin inclusion bodies were demonstrated within neurons and glia. Studies of patient derived fibroblasts and HeLa cells expressing mutant ferritin demonstrate increased iron levels and oxidative stress. These abnormalities have been recapitulated in mouse models of neuroferritinopathy. There is no disease modifying treatement for neuroferritinopathy but benzodiazepines and botulinum toxin may palliate dystonia and tetrabenazine may relieve chorea and facial tics. There is no role for iron chelation.

  12. Antiphospholipid Antibody Syndrome Presenting with Hemichorea

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    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.

  13. Rheumatic fever: a multicenter study in the State of São Paulo

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    Silva Carlos Henrique Martins da

    1999-01-01

    Full Text Available Rheumatic fever is still the most commonly seen rheumatic disease in Brazilian pediatric rheumatology clinics. It remains a significant health problem since subsequent cardiac sequelae represent one of the most important causes of chronic heart disease in children. We reviewed the clinical manifestations of rheumatic fever in 786 patients, followed at seven pediatric rheumatology clinics in the state of São Paulo, Brazil. All patients were diagnosed according to revised Jones' criteria. Regarding major criteria, 396 (50.4% children exhibited carditis, 453 (57.6% polyarthritis, 274 (34.8% chorea, 13 (1.6% erythema marginatum, and 12 (1.5% subcutaneous nodules. Valvular lesions documented by echocardiography in the absence of accompanying auscultatory findings were found in 144 (18.3% patients. Migratory polyarthritis was observed in 290 (64.0% patients with articular involvement. Documented previous streptococcal infection assessed by serum antistreptolysin (ASO titers occurred in 531 (67.5% patients. Even though prophylaxis with benzathine penicillin was recommended to all patients, recurrent attacks were observed in 147 (18.7%. We emphasize the high frequency of chorea, silent carditis and recurrences in our series as well as the variable clinical presentation of arthritis in rheumatic fever. Multicenter studies should be encouraged to improve our understanding of the clinical features of rheumatic diseases in children and adolescents.

  14. Genetic features of Huntington disease in Cuban population: implications for phenotype, epidemiology and predictive testing.

    Science.gov (United States)

    Vázquez-Mojena, Yaimeé; Laguna-Salvia, Leonides; Laffita-Mesa, José M; González-Zaldívar, Yanetza; Almaguer-Mederos, Luis E; Rodríguez-Labrada, Roberto; Almaguer-Gotay, Dennis; Zayas-Feria, Pedro; Velázquez-Pérez, Luis

    2013-12-15

    Huntington disease is the most frequent polyglutamine disorder with variable worldwide prevalence. Although some Latin American populations have been studied, HD prevalence in Cuban population remains unknown. In order to characterize the disease in Cuba, the relative frequency of HD was determined by studying 130 patients with chorea and 63 unrelated healthy controls, emphasizing in the molecular epidemiology of the disease. Sixty-two patients with chorea belonging to 16 unrelated families carried a pathological CAG expansion in the HTT gene, ranging from 39 to 67 repeats. Eighty-three percent of them come from the eastern region of the country. A significant inverse correlation between age at onset and expanded CAG repeats was seen. Intermediate alleles in affected individuals and controls represented 4.8% and 3.97% respectively, which have been a putative source of de novo mutation. This study represents the largest molecular characterization of Huntington disease in the Cuban population. These results may have significant implications for an understanding of the disease, its diagnosis and prognosis in Cuban patients, giving health professionals the tools to implement confirmatory genetic testing, pre-symptomatic testing and clinical trials in this population.

  15. Hypernasality associated with basal ganglia dysfunction: evidence from Parkinson’s disease and Huntington’s disease

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    Novotný, Michal; Čmejla, Roman; Růžičková, Hana; Klempíř, Jiří; Růžička, Evžen

    2016-01-01

    Background Although increased nasality can originate from basal ganglia dysfunction, data regarding hypernasality in Parkinson’s disease (PD) and Huntington’s disease (HD) are very sparse. The aim of the current study was to analyze acoustic and perceptual correlates of velopharyngeal seal closure in 37 PD and 37 HD participants in comparison to 37 healthy control speakers. Methods Acoustical analysis was based on sustained phonation of the vowel /i/ and perceptual analysis was based on monologue. Perceptual analysis was performed by 10 raters using The Great Ormond Street Speech Assessment ’98. Acoustic parameters related to changes in a 1/3-octave band centered on 1 kHz were proposed to reflect nasality level and behavior through utterance. Results Perceptual analysis showed the occurrence of mild to moderate hypernasality in 65% of PD, 89% of HD and 22% of control speakers. Based on acoustic analyses, 27% of PD, 54% of HD and 19% of control speakers showed an increased occurrence of hypernasality. In addition, 78% of HD patients demonstrated a high occurrence of intermittent hypernasality. Further results indicated relationships between the acoustic parameter representing fluctuation of nasality and perceptual assessment (r = 0.51, p Huntington Disease Rating Scale chorea composite subscore (r = 0.42, p = 0.01). Conclusions In conclusion the acoustic assessment showed that abnormal nasality was not a common feature of PD, whereas patients with HD manifested intermittent hypernasality associated with chorea. PMID:27703866

  16. Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction.

    Science.gov (United States)

    Waters, Christopher W; Varuzhanyan, Grigor; Talmadge, Robert J; Voss, Andrew A

    2013-05-28

    Huntington disease is a progressive and fatal genetic disorder with debilitating motor and cognitive defects. Chorea, rigidity, dystonia, and muscle weakness are characteristic motor defects of the disease that are commonly attributed to central neurodegeneration. However, no previous study has examined the membrane properties that control contraction in Huntington disease muscle. We show primary defects in ex vivo adult skeletal muscle from the R6/2 transgenic mouse model of Huntington disease. Action potentials in diseased fibers are more easily triggered and prolonged than in fibers from WT littermates. Furthermore, some action potentials in the diseased fibers self-trigger. These defects occur because of decreases in the resting chloride and potassium conductances. Consistent with this, the expression of the muscle chloride channel, ClC-1, in Huntington disease muscle was compromised by improper splicing and a corresponding reduction in total Clcn1 (gene for ClC-1) mRNA. Additionally, the total Kcnj2 (gene for the Kir2.1 potassium channel) mRNA was reduced in disease muscle. The resulting muscle hyperexcitability causes involuntary and prolonged contractions that may contribute to the chorea, rigidity, and dystonia that characterize Huntington disease.

  17. Preserving cortico-striatal function: Deep brain stimulation in Huntington's disease

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    Sean J Nagel

    2015-03-01

    Full Text Available Huntington’s disease (HD is an incurable neurodegenerative disease characterized by the triad of chorea, cognitive dysfunction and psychiatric disturbances. Since the discovery of the HD gene, the pathogenesis has been outlined, but to date a cure has not been found. Disease modifying therapies are needed desperately to improve function, alleviate suffering, and provide hope for symptomatic patients. Deep brain stimulation (DBS, a proven therapy for managing the symptoms of some neurodegenerative movement disorders, including Parkinson’s disease, has been reported as a palliative treatment in select cases of HD with debilitating chorea with variable success. New insights into the mechanism of action of DBS suggest it may have the potential to circumvent other manifestations of HD including cognitive deterioration. Furthermore, because DBS is already widely used, reversible, and has a risk profile that is relatively low, new studies can be initiated. In this article we contend that new clinical trials be considered to test the effects of DBS for HD

  18. Neurological mitochondrial cytopathies.

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    Mehndiratta M

    2002-04-01

    Full Text Available The mitochondrial cytopathies are genetically and phenotypically heterogeneous group of disorders caused by structural and functional abnormalities in mitochondria. To the best of our knowledge, there are very few studies published from India till date. Selected and confirmed fourteen cases of neurological mitochondrial cytopathies with different clinical syndromes admitted between 1997 and 2000 are being reported. There were 8 male and 6 female patients. The mean age was 24.42+/-11.18 years (range 4-40 years. Twelve patients could be categorized into well-defined syndromes, while two belonged to undefined group. In the defined syndrome categories, three patients had MELAS (mitochondrial encephalopathy, lactic acidosis and stroke like episodes, three had MERRF (myoclonic epilepsy and ragged red fibre myopathy, three cases had KSS (Kearns-Sayre Syndrome and three were diagnosed to be suffering from mitochondrial myopathy. In the uncategorized group, one case presented with paroxysmal kinesogenic dystonia and the other manifested with generalized chorea alone. Serum lactic acid level was significantly increased in all the patients (fasting 28.96+/-4.59 mg%, post exercise 41.02+/-4.93 mg%. Muscle biopsy was done in all cases. Succinic dehydrogenase staining of muscle tissue showed subsarcolemmal accumulation of mitochondria in 12 cases. Mitochondrial DNA study could be performed in one case only and it did not reveal any mutation at nucleotides 3243 and 8344. MRI brain showed multiple infarcts in MELAS, hyperintensities in putaminal areas in chorea and bilateral cerebellar atrophy in MERRF.

  19. ETHICAL AND GENETIC ASPECTS REGARDING PRESYMPTOMATIC TESTING FOR NEURODEGENERATIVE DISEASES.

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    Cozaru, Georgeta Camelial; Aşchie, Mariana; Mitroi, Anca Florentina; Poinăreanu, I; Gorduza, E V

    2016-01-01

    Neurodegenerative diseases, such as Alzheimer's dementia, Huntington's chorea, Parkinson's disease or spinocerebellar ataxia, manifests into adulthood with an insidious onset, slowly of progressive symptoms. All of these diseases are characterized by presimptomatic stages that preceded with many years of clinical debut. In Parkinson's disease, more than half of the dopaminergic neurons of the black substance are lost before the advent of motor characteristic manifestations. In Huntington's chorea, the progressive neurodegenerative disease could be diagnose prenatal and presymptomatic by analyse of the number of CAG repeats in exon 1 of the huntingtin gene. A similar mechanism represented by expansion of trinucleotide repeats during hereditary transmission from parents to children was identified in fragile X syndrome, spinocerebellar ataxia, spinal muscular and bulbar atrophy, or myotonic dystrophy. Presymptomatic diagnosis in all these progressive diseases raise many ethical issues, due to the psychological impact that can cause the prediction of a disease for which there is currently no curative treatment. Therefore, a positive result can produce serious psychological trauma and major changes in the lifestyle of the individual, instead, a negative result can bring joy and tranquillity. But the problem arises if presymptomatic testing in these neurodegenerative diseases brings greater benefits compared to the possible psychological damage, which can add the risk of stigmatization or discrimination.

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

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    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

  1. Movement disorders in cerebrovascular disease.

    Science.gov (United States)

    Mehanna, Raja; Jankovic, Joseph

    2013-06-01

    Movement disorders can occur as primary (idiopathic) or genetic disease, as a manifestation of an underlying neurodegenerative disorder, or secondary to a wide range of neurological or systemic diseases. Cerebrovascular diseases represent up to 22% of secondary movement disorders, and involuntary movements develop after 1-4% of strokes. Post-stroke movement disorders can manifest in parkinsonism or a wide range of hyperkinetic movement disorders including chorea, ballism, athetosis, dystonia, tremor, myoclonus, stereotypies, and akathisia. Some of these disorders occur immediately after acute stroke, whereas others can develop later, and yet others represent delayed-onset progressive movement disorders. These movement disorders have been encountered in patients with ischaemic and haemorrhagic strokes, subarachnoid haemorrhage, cerebrovascular malformations, and dural arteriovenous fistula affecting the basal ganglia, their connections, or both.

  2. Diagnosis and treatment for emergent hyperkinetic movement disorders%几种运动增多性运动障碍急症及其诊治

    Institute of Scientific and Technical Information of China (English)

    张旭花; 王宇卉

    2013-01-01

    运动增多性运动障碍如舞蹈症、偏侧投掷症、肌阵挛、肌张力障碍、抽搐等可表现为急症,需要根据症状尤其是病史和用药情况,及时进行正确诊断及处理.本文综述运动增多性运动障碍急症的病因、特征及临床治疗.%Hyperkinetic movement disorders, such as chorea, hemiballismus, myoclonus, dystonia and tics may sometimes present as neurologic emergency. It needs to be diagnosed and treated promptly based on symptoms, medical history and medication. This review describes the causes, characteristics and treatment of emergent hyperkinetic movement disorders.

  3. Acid-beta-glycerophosphatase reaction products in the central nervous system mitochondria following x-ray irradiation.

    Science.gov (United States)

    Roizin, L; Orlovskaja, D; Liu, J C; Carsten, A L

    1975-06-01

    A survey of the literature to date on the enzyme histochemistry of intracellular organelles has not yielded any reference to the presence of acid phosphatase reaction products in the mammalian mitochondria of the central nervous system. A combination of Gomori's acid phosphatase mehtod, however, with standard electron microscopy has disclosed the presence of enzyme reaction products in the mitochondria of the central nervous system of rats from 2 hr to 22 weeks after x-ray irradiation, as well as in a cerebral biopsy performed on a patient affected by Huntington's chorea. No enzyme reaction products, on the other hand, were observed in serial sections that had been incubated in substrates either containing sodium fluoride or lacking in beta-glycerophosphate. The abnormal mitochondrial enzyme reaction (chemical lesion) is considered to be the consequenco of the pathologic process affecting the ultrastructural-chemical organization of the organelle.

  4. Non-choreic movement disorders as initial manifestations of Huntington's disease Distúrbios do movimento não-coreicos como manifestação inicial da doença de Huntington

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    Nilson Becker

    2007-06-01

    Full Text Available We describe seven patients with genetically confirmed Huntington's disease (HD who had non-choreic movement disorders as presenting symptoms or signs. Patients with movement disorders other than chorea in the early stages tended to have larger CAG trinucleotide repeat expansion in comparison with more "typical" HD patients.Nós descrevemos sete pacientes com doença de Huntington, geneticamente confirmada, cuja apresentação motora inicial foi diferente de coréia. Pacientes com manifestação motora inicial diferente de coréia apresentaram maior número de expansões repetidas de CAG trinucleotídeo quando comparados com aqueles com sintomatologia motora "típica".

  5. Single photon emission computerized tomography (SPECT) in detecting neurodegeneration in Huntington's disease.

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    Reynolds, N C; Hellman, R S; Tikofsky, R S; Prost, R W; Mark, L P; Elejalde, B R; Lebel, R; Hamsher, K S; Swanson, S; Benezra, E E

    2002-01-01

    Single photon emission computerized tomography (SPECT) studies were performed on 34 manifest Huntington's disease (HD) patients at various stages of clinical pathology ranging from early chorea to late dystonia with or without signs of dementia and 12 pre-symptomatic patients with abnormal terminal CAG expansions. Thirty HD patients with obvious clinical signs and seven pre-symptomatic patients without signs or symptoms of HD displayed selective caudate hypoperfusion by direct visual inspection. Such qualitative, selective striatal hypoperfusion patterns can be indicative of early and persistent metabolic changes in striatal neuropathology. SPECT studies can be useful in documenting early pre-clinical changes in patients with abnormal terminal CAG expansions and in confirming the presence of caudate pathology in patients with clinical signs of HD.

  6. Central nervous system lupus erythematosus in childhood

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    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).

  7. 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.

  8. Undulating tongue in Wilson′s disease

    Directory of Open Access Journals (Sweden)

    M Nagappa

    2014-01-01

    Full Text Available We report an unusual occurrence of involuntary movement involving the tongue in a patient with confirmed Wilson′s disease (WD. She manifested with slow, hypophonic speech and dysphagia of 4 months duration, associated with pseudobulbar affect, apathy, drooling and dystonia of upper extremities of 1 month duration. Our patient had an uncommon tongue movement which was arrhythmic. There was no feature to suggest tremor, chorea or dystonia. It might be described as athetoid as there was a writhing quality, but of lesser amplitude. Thus, the phenomenology was uncommon in clinical practice and the surface of the tongue was seen to "ripple" like a liquid surface agitated by an object or breeze. Isolated lingual dyskinesias are rare in WD. It is important to evaluate them for WD, a potentially treatable disorder.

  9. An update on tardive dyskinesia: from phenomenology to treatment.

    Science.gov (United States)

    Waln, Olga; Jankovic, Joseph

    2013-01-01

    Tardive dyskinesia (TD), characterized by oro-buccal-lingual stereotypy, can manifest in the form of akathisia, dystonia, tics, tremor, chorea, or as a combination of different types of abnormal movements. In addition to movement disorders (including involuntary vocalizations), patients with TD may have a variety of sensory symptoms, such as urge to move (as in akathisia), paresthesias, and pain. TD is a form of tardive syndrome-a group of iatrogenic hyperkinetic and hypokinetic movement disorders caused by dopamine receptor-blocking agents. The pathophysiology of TD remains poorly understood, and treatment of this condition is often challenging. In this update, we provide the most current information on the history, nomenclature, etiology, pathophysiology, epidemiology, phenomenology, differential diagnosis, and treatment of TD.

  10. [Deep brain stimulation for hyperkinetic movement disorders].

    Science.gov (United States)

    Reich, M M; Volkmann, J

    2014-02-01

    The term hyperkinetic movement disorder encompasses dystonia, tremor, chorea, myoclon and tics. These symptoms are all caused by dysfunctional neural networks including the basal ganglia loop and can be accompanied by other neurological or psychiatric symptoms. Deep brain stimulation (DBS) is an important extension of therapeutic options for this group of patients in whom drug therapy is limited. Permanent electrodes are implanted in various subcortical brain areas in order to achieve an improvement in motor symptoms by high frequency stimulation. Already established indications include primary generalized or segmental dystonia and essential tremor but an increasingly better understanding of systemic pathophysiology has allowed DBS to be explored as a treatment for other disorders of the hyperkinetic spectrum. This article provides an overview of common hyperkinetic movement disorders from the viewpoint of recent advances in neurostimulation therapy.

  11. Targeting Cannabinoid CB2 Receptors in the Central Nervous System. Medicinal Chemistry Approaches with Focus on Neurodegenerative Disorders

    Science.gov (United States)

    Navarro, Gemma; Morales, Paula; Rodríguez-Cueto, Carmen; Fernández-Ruiz, Javier; Jagerovic, Nadine; Franco, Rafael

    2016-01-01

    Endocannabinoids activate two types of specific G-protein-coupled receptors (GPCRs), namely cannabinoid CB1 and CB2. Contrary to the psychotropic actions of agonists of CB1 receptors, and serious side effects of the selective antagonists of this receptor, drugs acting on CB2 receptors appear as promising drugs to combat CNS diseases (Parkinson's disease, Huntington's chorea, cerebellar ataxia, amyotrohic lateral sclerosis). Differential localization of CB2 receptors in neural cell types and upregulation in neuroinflammation are keys to understand the therapeutic potential in inter alia diseases that imply progressive neurodegeneration. Medicinal chemistry approaches are now engaged to develop imaging tools to map receptors in the living human brain, to develop more efficacious agonists, and to investigate the possibility to develop allosteric modulators. PMID:27679556

  12. Unusual early-onset Huntingtons disease.

    Science.gov (United States)

    Vargas, Antonio P; Carod-Artal, Francisco J; Bomfim, Denise; Vázquez-Cabrera, Carolina; Dantas-Barbosa, Carmela

    2003-06-01

    Huntington's disease is an autosomal dominant progressive neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral disorders leading to functional disability. In contrast to patients with adult onset, in which chorea is the major motor abnormality, children often present with spasticity, rigidity, and significant intellectual decline associated with a more rapidly progressive course. An unusual early-onset Huntington's disease case of an 11-year-old boy with severe hypokinetic/rigid syndrome appearing at the age of 2.5 years is presented. Clinical diagnosis was confirmed by polymerase chain reaction study of the expanded IT-15 allele with a compatible size of 102 cytosine-adenosine-guanosine repeats L-Dopa mildly ameliorated rigidity, bradykinesia, and dystonia. We conclude that Huntington's disease should be included in the differential diagnoses of regressive syndromes of early childhood.

  13. Wilson′s disease presenting as isolated obsessive-compulsive disorder

    Directory of Open Access Journals (Sweden)

    Kumawat B

    2007-11-01

    Full Text Available Wilson′s disease (WD is a genetic neurodegenerative disorder; it exhibits wide heterogeneity in symptoms and usually presents with liver disease and/ or neuropsychiatric manifestations. The common neurological manifestations observed are dysarthria, gait disturbance, dystonia, rigidity, tremor, dysphagia and chorea. The frequent psychiatric manifestations reported are personality and mood changes, depression, phobias, cognitive impairment, psychosis, anxiety, compulsive and impulsive behavior. Isolated obsessive-compulsive disorder (OCD is a rare presentation of WD. Reported herein is a case of a 17-year-old boy with isolated OCD. He presented to the psychiatrist with symptoms of contamination obsessions and washing compulsions, along with compulsion of repeated feet tapping, and was treated with adequate doses of fluoxetine for 6 months but did not improve. Later on, he was diagnosed as a case of WD and showed improvement with chelating and behavior therapy. This implies the importance of the occurrence of isolated psychological symptoms in WD.

  14. Acute rheumatic fever and streptococci: the quintessential pathogenic trigger of autoimmunity.

    Science.gov (United States)

    Chakravarty, Soumya D; Zabriskie, John B; Gibofsky, Allan

    2014-07-01

    Acute rheumatic fever (ARF) is a non-suppurative complication of pharyngeal infection with group A streptococcus. Signs and symptoms of ARF develop 2 to 3 weeks following pharyngitis and include arthritis, carditis, chorea, subcutaneous nodules, and erythema marginatum. In developing areas of the world, ARF and rheumatic heart disease are estimated to affect nearly 20 million people and remain leading causes of cardiovascular death during the first five decades of life. ARF still represents one of the quintessential examples of a pathogenic trigger culminating in autoimmune manifestations. In this review, we will focus on the pathogenesis and etiology of ARF and its complications, along with diagnostic and treatment approaches to both ameliorate and prevent long-term sequelae of this potentially debilitating disease.

  15. Acute rheumatic fever outbreak in southern central European country.

    Science.gov (United States)

    Kočevar, Urška; Toplak, Nataša; Kosmač, Blaž; Kopač, Luka; Vesel, Samo; Krajnc, Natalija; Homan, Matjaž; Rus, Rina; Avčin, Tadej

    2017-01-01

    A decline in the incidence of acute rheumatic fever (ARF) in developed countries over the past century can be attributed to the improved public hygiene and to widespread use of antibiotics. ARF seemed to be a rare disease in southern central European country, Slovenia, up to 2010 when we noticed an increase in the number of patients with ARF. In order to assess the current incidence of ARF, we performed a retrospective study of all patients with ARF treated at the University Children's Hospital Ljubljana from January 2008 until the end of December 2014. In a period of 7 years, 19 patients with ARF were identified. The estimated annual incidence of ARF during the study period was 1.25 cases per 100,000 children. Carditis was present in all patients, arthritis in 37 % and Sydenham chorea in 32 %.

  16. Rapid eye movement sleep disturbances in Huntington disease

    DEFF Research Database (Denmark)

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

    2008-01-01

    Background: Sleep disorders including insomnia, movements during sleep, and daytime sleepiness are common but poorly studied in Huntington disease (HD). Objective: To evaluate the HD sleep-wake phenotype (including abnormal motor activity during sleep) in patients with various HD stages...... 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......: 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...

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

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    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. Childhood-onset (Juvenile Huntington′s disease: A rare case report

    Directory of Open Access Journals (Sweden)

    Kailash Chandra Patra

    2015-01-01

    Full Text Available Huntington′s disease (HD is a rare dominantly inherited neurodegenerative disorder characterized clinically by a combination of abnormal involuntary (choreic movements, neuropsychiatric manifestations, and dementia. It is caused by an unstable CAG repeat expansion in the gene IT15 which encodes a Huntingtin protein. We present a case of a 9 year old boy who had developmental regression starting from the age of 8 years of age along with resistant seizures and signs of cerebellar involvement with absence of chorea and is on anticonvulsants, baclofen, and tetrabenzine. As is expected in a case of childhood-onset HD, our patient is rapidly deteriorating and is currently in the terminal phase of his illness along with resistant convulsions.

  19. Is Tourette's syndrome an autoimmune disease?

    Science.gov (United States)

    Hoekstra, P J; Kallenberg, C G M; Korf, J; Minderaa, R B

    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 beneficial effects of immunomodulatory intervention. One of the most controversial areas in this field is the validity of the proposed PANDAS concept. Some researchers have delineated a putatively unique subgroup of patients, from the spectrum of illness encompassing Tourette's syndrome and obsessive-compulsive disorder (OCD), whose tics and obsessive-compulsive symptoms are shown to arise in response to beta-hemolytic streptococcal infections. They designated it by the term pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS). Herein we additionally present pros and cons concerning the concept of PANDAS. Finally, recommendations for future research directions are given.

  20. Fahr’s Disease: A Case Report

    Directory of Open Access Journals (Sweden)

    İlhan Kılınç

    2007-01-01

    Full Text Available Fahr’s disease is characterized with presence of calcifications in basal ganglions, dentate nucleus, and centrum semiovale. Common clinical findings of the disease are Parkinsonism, dystonia, chorea, ataxia, dementia, and mood disorders. We present a patient, in whom a diagnosis of Fahr disease established, with clinical and radiological findings. Neurological and physical exam of the 56 year-old female with complaints of memory loss and speech disorder for one year. Brain CT showed Fahr type calcification in the basal ganglion, thalamus, periventricular white matter, centrum semiovale, and cerebellum. Fahr’s disease must be present in differential diagnosis of patients with calcification in basal ganglion, thalamus, periventricular white matter, centrum semiovale, and cerebellum on CT or MRI that could not be explained otherwise.

  1. A Case of Fahr Syndrome Presenting with Seizures

    Directory of Open Access Journals (Sweden)

    Mustafa Calik

    2013-06-01

    Full Text Available Fahr syndrome is characterized with calcification in basal ganglia, dentate nucleus of cerebellum and centrum semiovale. Frequent clinical findings include Parkinsonism, dystonia, tremor, chorea, ataxia, dementia, and mood disorders. 13 years old male was admitted with generalized tonic-clonic seizures in our clinic. His neurological examination was normal. No abnormalities were determined in biochemical and hormonal examinations. Cranial computed tomography and magnetic resonance imaging demonstrated alterations in signal intensity suggestive of extensive calcifications in basal ganglia, thalami, periventricular white matter and centrum semiovale. Although, extra pyramidal system findings are the most common signs in Fahr syndrome, we aimed to point out that some of the patients might also present with epileptic seizures.

  2. It wasn't Witchcraft--It was Huntington Disease!

    Science.gov (United States)

    Penaranda, Eribeth; Garcia, Angel; Montgomery, Lisa

    2011-01-01

    Huntington disease (HD) is an autosomal-dominant, incurable, progressive disorder that manifests with chorea and behavioral and cognitive impairment. The disease usually occurs during the fourth or fifth decade of life; however, it may present at any age. Clinical suspicion is confirmed by genetic testing. Death occurs, on average, 15 to 20 years after the onset of symptoms. Here we report about a Hispanic woman and her family who were affected by the disease; this case illustrates the role of cultural values and beliefs in the decision-making process, as well as the importance of the physician's cultural competency in fostering a trusting relationship that may lessen the burden of catastrophic diseases on individuals, families, and society at-large.

  3. Brain FDG-PET Scan and Brain Perfusion SPECT in the Diagnosis of Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Eylem Değirmenci

    2015-06-01

    Full Text Available Neuroacanthocytosis syndromes (NA include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. Fluor 18 -2-fluoro-2-deoxyglucose (18F-FDG-PET positron emission tomography (PET and technetium 99m -d, l-hexamethyl-propylene amine oxime (99mTc-HMPAO brain single photon emission computed tomography (SPECT have been increasingly used for the detection of neurologic disorders, such as dementia, epilepsy, and movement disorders. In this case report, we report two patients with neuroacanthocytosis syndromes with the imaging features of brain metabolism by PET and brain perfusion by SPECT. Brain PET and brain SPECT findings of patients with neuroacanthocytosis syndromes were also reviewed.

  4. [Angiodysplasia of moya-moya type disclosed by choreic unvoluntary abnormal movements during oral contraception. Apropos of 2 cases].

    Science.gov (United States)

    Pelletier, J; Cabanot, C; Lévrier, O; Thuillier, J N; Chérif, A A

    1997-07-01

    Two seventeen year-old women, developed acute onset left choreic movements following two months and two weeks use of oral contraceptives. Left hemiparesia appeared a few days later, while involuntary movements discontinued. Cranial CT scan and MRI showed bilateral ischemic lesion in the frontal region for the first case and isolated lesion in the right centrum ovale for the second. Angiography showed nearly complete obstruction of the terminal portion of the internal carotid artery with an outline Moya-Moya network. After discontinuing oral contraceptives, there has been no relapse of neurologic dysfunction for more than three years for the first case and twelve months for the second one. The role of perfusion insufficiency in limb-shaking carotid transient ischemic attack is discussed and the possible relations between oral contraceptives, chorea and angiographic features resembling Moya-Moya disease are evaluated.

  5. Movimentos involuntários anormais como primeira manifestação do lupus eritematoso sistêmico: relato de caso Involuntary movement disorders as first manifestation of systemic lupus erythematosus: case report

    Directory of Open Access Journals (Sweden)

    Adriana Maria Kakehasi

    2001-09-01

    Full Text Available Relatamos o caso de uma paciente, de 36 anos de idade, que desenvolveu quadro de coréia após dois meses do início do uso de anticoncepcional oral, acompanhando-se, posteriormente, de trombocitopenia, úlcera mucosa em cavidade oral, artrite, positividade para os anticorpos antinuclear (FAN, anti-DNA e anti-Sm, preenchendo critérios para lúpus eritematoso sistêmico, segundo o Colégio Americano de Reumatologia. A pesquisa para os anticorpos anticoagulante lúpico e anticardiolipina (IgG e IgM foi negativa. A paciente foi tratada com prednisona, fenitoína, fenobarbital e clonazepam, obtendo melhora clínica e laboratorial. Discutimos a ocorrência da coréia e outros movimentos anormais como primeira manifestação do lúpus eritematoso sistêmico, sua relação com os anticoncepcionais orais e os anticorpos antifosfolípides.We describe a 36 year-old woman who developed chorea two months after starting the use of oral contraceptives. She also developed thrombocitopenia, oral ulcers, arthritis, positive antinuclear antibodies (ANA, anti-Sm and anti-DNA, filling criteria for sistemic lupus erythematosus, as defined by the American College of Rheumatology. The tests for lupus anticoagulant and anticardiolipin (IgG and IgM were negative. The patient was treated with prednisone, phenitoin, phenobarbital and clonazepam, obtaining clinical and laboratorial improvement. We discuss the ocurrence of chorea and other movement disorders as first manifestation of systemic lupus erythematosus, its relationship with oral contraceptives and antiphospholipid antibodies.

  6. Manifestações neuropsiquiátricas em crianças e adolescentes com lúpus eritematoso sistêmico juvenil: associação com anticorpos antifosfolípide? Neuropsychiatric manifestations of children and adolescents with juvenile systemic lupus erythematosus: is there an association with antiphospholipid antibodies?

    Directory of Open Access Journals (Sweden)

    Cássia Maria Passarelli Lupoli Barbosa

    2006-10-01

    Full Text Available OBJETIVO: estudar a freqüência de anticorpos antifosfolípide (aFL em pacientes com lúpus eritematoso sistêmico juvenil (LESJ e sua possível associação com manifestações neuropsiquiátricas. MÉTODOS: análise retrospectiva de prontuários de 64 pacientes com LESJ, de acordo com os critérios do American College of Rheumatology (ACR, acompanhados por um período mínimo de seis meses. Foram consideradas manifestações neuropsiquiátricas: cefaléia, convulsão, acidente vascular cerebral (AVC, coréia, neuropatia medular e periférica, além de alterações do comportamento, com ou sem psicose. Duas dosagens de anticorpos anticardiolipina foram realizadas com intervalo de dois meses e foram considerados positivos os títulos de IgG maiores que 20 e de IgM maiores que 12. O anticoagulante lúpico foi dosado em 32 pacientes. A análise estatística foi realizada através do teste de Fisher com nível de significância OBJECTIVE: to study the frequency of antiphospholipid antibodies (aPL in patients with juvenile systemic lupus erythematosus (JSLE and the possible association to neuropsychiatric manifestations. METHODS: retrospective analysis of charts of 64 JSLE patients according to the American College of Rheumatology (ACR classification criteria, followed for at least six months. The neuropsychiatric manifestations were defined by the presence of: headache, seizure, cerebrovascular accident (CVA, chorea, medular or peripheral neuropathy and behavior disturbances with psichosis or not. The aPL were tested in two occasions with an interval of two months. Values greater than 20 for IgG or 12 for IgM were considered as positive. The lupus anticoagulant was tested in 32 patients. The statistical analysis was performed using the Fisher’s exact test with a significance level of 0,05. RESULTS: 38 (59.4% out of 64 JSLE patients had neuropsychiatric manifestations. APL antibodies were presented in 29 patients (45.3%. We did not observe a

  7. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  8. Los trastornos del movimiento en urgencias Movement disorders in the emergency department

    Directory of Open Access Journals (Sweden)

    M.E. Erro

    2008-01-01

    Full Text Available Los pacientes que acuden a urgencias con un cuadro clínico en el que predomina un trastorno del movimiento de instauración aguda o subaguda suponen un porcentaje pequeño de las urgencias neurológicas. Sin embargo, su conocimiento es importante ya que en muchos de estos casos un error en el diagnóstico o tratamiento puede conllevar una importante morbilidad e incluso mortalidad. La forma clínica de presentación de estos trastornos es variada y en algunos predomina la acinesia o la rigidez mientras que en otros casos son los movimientos anormales en forma de discinesias o balismos lo que caracterizan al cuadro clínico. El tipo de trastorno del movimiento orienta hacia una determinada etiología. El consumo de determinados fármacos o tóxicos supone una de las principales causas de trastorno agudo del movimiento dentro de las que se incluyen el síndrome neuroléptico maligno y el síndrome serotoninérgico. En esta revisión se ha dedicado un apartado a las urgencias que plantea la enfermedad de Parkinson y que incluyen el síndrome parkinsonismo-hiperpirexia, la psicosis aguda y las urgencias de los pacientes con neuroestimuladores. Las distonías y corea-balismo agudas son también abordadas, y por último se dedica un apartado a las trastornos del movimiento como forma de presentación de un ictus.Acute or sub-acute movement disorders represent a small percentage of neurological emergencies but it is necessary to be aware of their existence because a failure in their diagnosis or treatment can result in significant morbidity and mortality. Clinical presentation of acute movement disorders can be diverse. In some cases acinesia or rigidity predominates, while others are characterized by dystonia, chorea o balism. The type of movement disorder suggest a specific aetiology. Drugs represent the most frequent etiologic factor and are the cause of neuroleptic malignant syndrome and serotoninergic syndrome. Emergencies secondary to Parkinson

  9. Dermatitis herpetiformis and neurological dysfunction.

    Science.gov (United States)

    Wills, A J; Turner, B; Lock, R J; Johnston, S L; Unsworth, D J; Fry, L

    2002-02-01

    Dermatitis herpetiformis and coeliac disease are gluten sensitive diseases, which have common immunopathological and genetic mechanisms. Neuropsychiatric complications have been reported in up to 26% of patients with coeliac disease. This is probably an overestimate, because of the chance associations with some common neurological conditions such as epilepsy. The pathogenesis is speculative but it has been postulated that gluten is neurotoxic possibly via immune mechanisms. The frequency of neurological dysfunction in patients with dermatitis herpetiformis has not been characterised. Patients with dermatitis herpetiformis might be expected to be particularly susceptible to neuronal damage as some continue to consume gluten when their dermatological symptoms are controlled by dapsone. Thirty five patients were recruited with dermatitis herpetiformis from dermatology clinics at St Mary's Hospital, London and Queen's Medical Centre, Nottingham and investigated for evidence of neurological abnormality. All patients underwent a full neurological examination and were asked about their neurological and general medical history by means of a structured questionnaire. Serum samples were taken and screened for the presence of anti-neuronal antibodies (anti-Hu and Yo) as well as anti-gliadin (IgA and G) anti-endomysial (IgA), and anti-tissue transglutaminase (IgA) antibodies. Neurophysiological tests were carried out where appropriate. Only two patients were identified with unexplained neurological abnormalities (one essential tremor, and one chorea). Two other patients had a history of migraine. The patient with chorea also had borderline/equivocally positive anti-Hu antibodies by immunofluorescence assay. All other samples were negative for anti-neuronal antibodies. Fifteen patients were positive for anti-gliadin antibodies (IgA and/or IgG), four for anti-endomysial antibodies (monkey oesophagus or umbilical cord), and six for anti-tissue transglutaminase antibodies. The

  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. 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.

  12. Huntington's Disease and Striatal Signaling

    Directory of Open Access Journals (Sweden)

    Emmanuel eRoze

    2011-08-01

    Full Text Available Huntington’s Disease (HD is the most frequent neurodegenerative disease caused by an expansion of polyglutamines (CAG. The main clinical manifestations of HD are chorea, cognitive impairment and psychiatric disorders. The transmission of HD is autosomal dominant with a complete penetrance. HD has a single genetic cause, a well-defined neuropathology, and informative pre-manifest genetic testing of the disease is available. Striatal atrophy begins as early as 15 years before disease onset and continues throughout the period of manifest illness. Therefore, patients could theoretically benefit from therapy at early stages of the disease. One important characteristic of HD is the striatal vulnerability to neurodegeneration, despite similar expression of the protein in other brain areas. Aggregation of the mutated Huntingtin (HTT, impaired axonal transport, excitotoxicity, transcriptional dysregulation as well as mitochondrial dysfunction and energy deficits, are all part of the cellular events that underlie neuronal dysfunction and striatal death. Among these non-exclusive mechanisms, an alteration of striatal signaling is thought to orchestrate the downstream events involved in the cascade of striatal dysfunction.

  13. Chinese patients with Huntington's disease initially presenting with spinocerebellar ataxia.

    Science.gov (United States)

    Dong, Y; Sun, Y-M; Liu, Z-J; Ni, W; Shi, S-S; Wu, Z-Y

    2013-04-01

    Recent studies have described Huntington's disease (HD) patients with atypical onset of ataxia. Symptoms in these patients can overlap with those of spinocerebellar ataxia (SCA). We retrospectively examined clinical data for 82 HD probands and found 7 had initially been clinically diagnosed as SCA cases. Clinical features in these patients were further investigated and the number of CAG repeats in the huntingtin (HTT) gene was determined by direct sequencing. Genetic screenings for SCAs in the 7 patients were all negative. By contrast, HTT was heterozygous in each patient. The distribution of CAG number in the 7 patients was statistically the same as that in the other 75 patients. Each of 7 HD patients had presented with atypical onset of ataxia. The mean time from onset to HTT genetic testing was 5.6 ± 5.52 years. Three of the patients developed chorea, but the others did not. Our observations confirm the clinical heterogeneity of HD in Han Chinese. Based on these findings, testing for HTT expansions should be considered for clinically diagnosed SCA patients who test negatively in genetic screening of SCA genes.

  14. Huntington's Disease and Striatal Signaling.

    Science.gov (United States)

    Roze, Emmanuel; Cahill, Emma; Martin, Elodie; Bonnet, Cecilia; Vanhoutte, Peter; Betuing, Sandrine; Caboche, Jocelyne

    2011-01-01

    Huntington's Disease (HD) is the most frequent neurodegenerative disease caused by an expansion of polyglutamines (CAG). The main clinical manifestations of HD are chorea, cognitive impairment, and psychiatric disorders. The transmission of HD is autosomal dominant with a complete penetrance. HD has a single genetic cause, a well-defined neuropathology, and informative pre-manifest genetic testing of the disease is available. Striatal atrophy begins as early as 15 years before disease onset and continues throughout the period of manifest illness. Therefore, patients could theoretically benefit from therapy at early stages of the disease. One important characteristic of HD is the striatal vulnerability to neurodegeneration, despite similar expression of the protein in other brain areas. Aggregation of the mutated Huntingtin (HTT), impaired axonal transport, excitotoxicity, transcriptional dysregulation as well as mitochondrial dysfunction, and energy deficits, are all part of the cellular events that underlie neuronal dysfunction and striatal death. Among these non-exclusive mechanisms, an alteration of striatal signaling is thought to orchestrate the downstream events involved in the cascade of striatal dysfunction.

  15. Rapid eye movement sleep disturbances in Huntington disease

    DEFF Research Database (Denmark)

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

    2008-01-01

    Background: Sleep disorders including insomnia, movements during sleep, and daytime sleepiness are common but poorly studied in Huntington disease (HD). Objective: To evaluate the HD sleep-wake phenotype (including abnormal motor activity during sleep) in patients with various HD stages and the l......Background: Sleep disorders including insomnia, movements during sleep, and daytime sleepiness are common but poorly studied in Huntington disease (HD). Objective: To evaluate the HD sleep-wake phenotype (including abnormal motor activity during sleep) in patients with various HD stages...... interview, nighttime video and sleep monitoring, and daytime multiple sleep latency tests. Their results were compared with those of patients with narcolepsy and control patients. Results: The HD patients had frequent insomnia, earlier sleep onset, lower sleep efficiency, increased stage I sleep, delayed......: 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...

  16. Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease.

    Science.gov (United States)

    Anheim, Mathieu; Lagha-Boukbiza, Ouhaïd; Fleury-Lesaunier, Marie-Céline; Valenti-Hirsch, Maria-Paola; Hirsch, Edouard; Gervais-Bernard, Hélène; Broussolle, Emmanuel; Thobois, Stéphane; Vanier, Marie T; Latour, Philippe; Tranchant, Christine

    2014-01-01

    Niemann-Pick type C disease (NPC) is a recessive neurolipidosis. We report five adolescent and adult NPC cases to underscore the frequency and heterogeneity of movement disorders in NPC. Clinical, morphologic, biochemical and genetic study was performed in the five patients. Disease onset was between 8 and 50 years. Movement disorders were present in all cases, were heterogeneous and often combined [cerebellar ataxia (5/5), myoclonus (3/5), dystonia (2/5), chorea (1/5) and tremor (1/5)] and were the first sign in 4/5. Two patients were reported to have no vertical supranuclear gaze palsy (VSGP) at the first examination. Two patients experienced acute neuropsychiatric signs leading to death in one case due to myoclonic storm. Filipin staining was always positive. Two NPC1 mutations were identified in three patients, only one in two siblings. NPC should be considered in case of unexplained movement disorders, even when VSGP or cataplexy are not reported. Filipin staining remains a strong support for the diagnosis. Treatment with miglustat should be considered which is currently the only approved disease-specific treatment of NPC in children and adults.

  17. Autoimmune movement disorders.

    Science.gov (United States)

    Mckeon, Andrew; Vincent, Angela

    2016-01-01

    Autoimmune movement disorders encapsulate a large and diverse group of neurologic disorders occurring either in isolation or accompanying more diffuse autoimmune encephalitic illnesses. The full range of movement phenomena has been described and, as they often occur in adults, many of the presentations can mimic neurodegenerative disorders, such as Huntington disease. Disorders may be ataxic, hypokinetic (parkinsonism), or hyperkinetic (myoclonus, chorea, tics, and other dyskinetic disorders). The autoantibody targets are diverse and include neuronal surface proteins such as leucine-rich, glioma-inactivated 1 (LGI1) and glycine receptors, as well as antibodies (such as intracellular antigens) that are markers of a central nervous system process mediated by CD8+ cytotoxic T cells. However, there are two conditions, stiff-person syndrome (also known as stiff-man syndrome) and progressive encephalomyelitis with rigidity and myoclonus (PERM), that are always autoimmune movement disorders. In some instances (such as Purkinje cell cytoplasmic antibody-1 (PCA-1) autoimmunity), antibodies detected in serum and cerebrospinal fluid can be indicative of a paraneoplastic cause, and may direct the cancer search. In other instances (such as 65kDa isoform of glutamic acid decarboxylase (GAD65) autoimmunity), a paraneoplastic cause is very unlikely, and early treatment with immunotherapy may promote improvement or recovery. Here we describe the different types of movement disorder and the clinical features and antibodies associated with them, and discuss treatment.

  18. Movement Disorders Following Cerebrovascular Lesion in the Basal Ganglia Circuit.

    Science.gov (United States)

    Park, Jinse

    2016-05-01

    Movement disorders are primarily associated with the basal ganglia and the thalamus; therefore, movement disorders are more frequently manifest after stroke compared with neurological injuries associated with other structures of the brain. Overall clinical features, such as types of movement disorder, the time of onset and prognosis, are similar with movement disorders after stroke in other structures. Dystonia and chorea are commonly occurring post-stroke movement disorders in basal ganglia circuit, and these disorders rarely present with tremor. Rarer movement disorders, including tic, restless leg syndrome, and blepharospasm, can also develop following a stroke. Although the precise mechanisms underlying the pathogenesis of these conditions have not been fully characterized, disruptions in the crosstalk between the inhibitory and excitatory circuits resulting from vascular insult are proposed to be the underlying cause. The GABA (gamma-aminobutyric acid)ergic and dopaminergic systems play key roles in post-stroke movement disorders. This review summarizes movement disorders induced by basal ganglia and thalamic stroke according to the anatomical regions in which they manifest.

  19. Parkinsonism, movement disorders and genetics in frontotemporal dementia.

    Science.gov (United States)

    Baizabal-Carvallo, José Fidel; Jankovic, Joseph

    2016-03-01

    Frontotemporal dementia (FTD) refers to a group of clinically and genetically heterogeneous neurodegenerative disorders that are a common cause of adult-onset behavioural and cognitive impairment. FTD often presents in combination with various hyperkinetic or hypokinetic movement disorders, and evidence suggests that various genetic mutations underlie these different presentations. Here, we review the known syndromatic-genetic correlations in FTD. Although no direct genotype-phenotype correlations have been identified, mutations in multiple genes have been associated with various presentations. Mutations in the genes that encode microtubule-associated protein tau (MAPT) and progranulin (PGRN) can manifest as symmetrical parkinsonism, including the phenotypes of Richardson syndrome and corticobasal syndrome (CBS). Expansions in the C9orf72 gene are most frequently associated with familial FTD, typically combined with motor neuron disease, but other manifestations, such as symmetrical parkinsonism, CBS and multiple system atrophy-like presentations, have been described in patients with these mutations. Less common gene mutations, such as those in TARDBP, CHMP2B, VCP, FUS and TREM2, can also present as atypical parkinsonism. The most common hyperkinetic movement disorders in FTD are motor and vocal stereotypies, which have been observed in up to 78% of patients with autopsy-proven FTD. Other hyperkinetic movements, such as chorea, orofacial dyskinesias, myoclonus and dystonia, are also observed in some patients with FTD.

  20. Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.

    Science.gov (United States)

    Marras, Connie; Lang, Anthony; van de Warrenburg, Bart P; Sue, Carolyn M; Tabrizi, Sarah J; Bertram, Lars; Mercimek-Mahmutoglu, Saadet; Ebrahimi-Fakhari, Darius; Warner, Thomas T; Durr, Alexandra; Assmann, Birgit; Lohmann, Katja; Kostic, Vladimir; Klein, Christine

    2016-04-01

    The system of assigning locus symbols to specify chromosomal regions that are associated with a familial disorder has a number of problems when used as a reference list of genetically determined disorders,including (I) erroneously assigned loci, (II) duplicated loci, (III) missing symbols or loci, (IV) unconfirmed loci and genes, (V) a combination of causative genes and risk factor genes in the same list, and (VI) discordance between phenotype and list assignment. In this article, we report on the recommendations of the International Parkinson and Movement Disorder Society Task Force for Nomenclature of Genetic Movement Disorders and present a system for naming genetically determined movement disorders that addresses these problems. We demonstrate how the system would be applied to currently known genetically determined parkinsonism, dystonia, dominantly inherited ataxia, spastic paraparesis, chorea, paroxysmal movement disorders, neurodegeneration with brain iron accumulation, and primary familial brain calcifications. This system provides a resource for clinicians and researchers that, unlike the previous system, can be considered an accurate and criterion-based list of confirmed genetically determined movement disorders at the time it was last updated.

  1. Deep brain stimulation for movement disorders: update on recent discoveries and outlook on future developments.

    Science.gov (United States)

    Mahlknecht, Philipp; Limousin, Patricia; Foltynie, Thomas

    2015-11-01

    Modern deep brain stimulation (DBS) has become a routine therapy for patients with movement disorders such as Parkinson's disease, generalized or segmental dystonia and for multiple forms of tremor. Growing numbers of publications also report beneficial effects in other movement disorders such as Tourette's syndrome, various forms of chorea and DBS is even being studied for Parkinson's-related dementia. While exerting remarkable effects on many motor symptoms, DBS does not restore normal neurophysiology and therefore may also have undesirable side effects including speech and gait deterioration. Furthermore, its efficacy might be compromised in the long term, due to progression of the underlying disease. Various programming strategies have been studied to try and address these issues, e.g., the use of low-frequency rather than high-frequency stimulation or the targeting of alternative brain structures such as the pedunculopontine nucleus. In addition, further technical developments will soon provide clinicians with an expanded choice of hardware such as segmented electrodes allowing for a steering of the current to optimize beneficial effects and reduce side effects as well as the possibility of adaptive stimulation systems based on closed-loop concepts with or without accompanying advances in programming and imaging software. In the present article, we will provide an update on the most recent achievements and discoveries relevant to the application of DBS in the treatment of movement disorder patients and give an outlook on future clinical and technical developments.

  2. 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.

  3. Postpartum spontaneous colonic perforation due to antiphospholipid syndrome

    Institute of Scientific and Technical Information of China (English)

    Kamran Ahmed; Amir Darakhshan; Eleanor Au; Munther A Khamashta; Iraklis E Katsoulis

    2009-01-01

    The antiphospholipid syndrome (APS) is a multi-systemic disease being characterized by the presence of antiphospholipid antibodies that involves both arterial and venous systems resulting in arterial or venous thrombosis, fetal loss, thrombocytopenia, leg ulcers, livedo reticularis, chorea,and migraine. We document a previously unreported case of a 37-year-old female in whom APS was first manifested by infarction and cecal perforation following cesarean section. At laparotomy the underlying cause of colonic perforation was not clear and after resection of the affected bowel an ileo-colostomy was performed. The diagnosis of APS was established during post-operative hospital stay and the patient was commenced on warfarin.Eventually, she made a full recovery and had her stoma reversed after 4 mo. Pregnancy poses an increased risk of complications in women with APS and requires a more aggressive approach to the obstetric care. This should include full anticoagulation in the puerperium and frequent doppler ultrasound monitoring of uterine and umbilical arteries to detect complications such as preeclampsia and placental insufficiency.

  4. Current treatment of antiphospholipid syndrome: lights and shadows.

    Science.gov (United States)

    Espinosa, Gerard; Cervera, Ricard

    2015-10-01

    For patients with antiphospholipid syndrome (APS), the consensus is to treat those who develop thrombosis with long-term oral anticoagulation therapy and to prevent obstetric manifestations by use of aspirin and heparin. These recommendations are based on data from randomized controlled trials and observational studies. Despite this body of knowledge, areas of uncertainty regarding the management of APS exist where evidence is scarce or nonexistent. In other words, for a subset of patients the course of management is unclear. Some examples are patients with 'seronegative' APS, those who do not fulfil the formal (clinical or serological) classification criteria for definite APS, and those with recurrent thrombotic events despite optimal anticoagulation. Other challenges include the treatment of clinical manifestations not included in the classification criteria, such as haematologic manifestations (thrombocytopenia and haemolytic anaemia), neurologic manifestations (chorea, myelitis and multiple sclerosis-like lesions), and nephropathy and heart valve disease associated with antiphospholipid antibodies (aPL), as well as the possible withdrawal of anticoagulation treatment in selected cases of thrombotic APS in which assays for aPL become persistently negative. This Review focuses on the current recommendations for thrombotic and obstetric manifestations of APS, as well as the management of difficult cases. Some aspects of treatment, such as secondary prophylaxis of venous thrombosis, are based on strong evidence--the 'lights' of APS treatment. Conversely, other areas, such as the treatment of non-criteria manifestations of APS, are based only on expert consensus or common sense and remain the 'shadows' of APS therapy.

  5. 'Non-Criteria' Neurologic Manifestations of Antiphospholipid Syndrome: A Hidden Kingdom to be Discovered.

    Science.gov (United States)

    Islam, Md Asiful; Alam, Fahmida; Kamal, Mohammad Amjad; Wong, Kah Keng; Sasongko, Teguh Haryo; Gan, Siew Hua

    2016-01-01

    Neurological manifestations or disorders associated with the central nervous system are among the most common and important clinical characteristics of antiphospholipid syndrome (APS). Although in the most recently updated (2006) APS classification criteria, the neurological manifestations encompass only transient ischemic attack and stroke, diverse 'non-criteria' neurological disorders or manifestations (i.e., headache, migraine, bipolar disorder, transverse myelitis, dementia, chorea, epileptic seizures, multiple sclerosis, psychosis, cognitive impairment, Tourette's syndrome, parkinsonism, dystonia, transient global amnesia, obsessive compulsive disorder and leukoencephalopathy) have been observed in APS patients. To date, the underlying mechanisms responsible for these abnormal neurological manifestations in APS remain unclear. In vivo experiments and human observational studies indicate the involvement of thrombotic events and/or high titers of antiphospholipid antibodies in the neuro-pathogenic cascade of APS. Although different types of neurologic manifestations in APS patients have successfully been treated with therapies involving anti-thrombotic regimens (i.e., anticoagulants and/or platelet antiaggregants), antineuralgic drugs (i.e., antidepressants, antipsychotics and antiepileptics) and immunosuppressive drugs alone or in combination, evidence-based guidelines for the management of the neurologic manifestations of APS remain unavailable. Therefore, further experimental, clinical and retrospective studies with larger patient cohorts are warranted to elucidate the pathogenic linkage between APS and the central nervous system in addition to randomized controlled trials to facilitate the discovery of appropriate medications for the 'non-criteria' neurologic manifestations of APS.

  6. Factors influencing the clinical expression of intermediate CAG repeat length mutations of the Huntington's disease gene.

    Science.gov (United States)

    Panegyres, Peter K; Shu, Chen-Chun; Chen, Huei-Yang; Paulsen, Jane S

    2015-02-01

    Our aim is to elucidate the clinical variables associated with the development of manifest HD in patients with intermediate CAG repeat lengths. 2,167 participants were seen throughout 44 research sites in the United States, Canada or Australia over a five-year natural history observational study (2006-2011) (Trial # NCT00313495). The Chi-square test and a generalised linear model were used to examine the differences in demographics and cognitive tests among three groups of CAG repeat length. The mixed model was then used to examine the time effect on cognitive assessments by CAG groups. No patient with CAG repeat length 27-35 developed manifest HD, whereas three patients with 36-39 did. Total motor score, maximal chorea score and maximal dystonia score were significantly different at baseline (p CAG 36-39; those with an associated university degree or higher education were less frequently diagnosed as manifest HD (OR 0.10, 95 % CI 0.02-0.54, p = 0.007). Age, smoking and lower education achievement were found to be significantly associated with higher odds of manifest HD in patients with intermediate CAG repeat length mutations.

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

    Science.gov (United States)

    Zeng, Yixuan; Guo, Wenyuan; Xu, Guangqing; Wang, Qinmei; Feng, Luyang; Long, Simei; Liang, Fengyin; Huang, Yi; Lu, Xilin; Li, Shichang; Zhou, Jiebin; Burgunder, Jean-Marc; Pang, Jiyan; Pei, Zhong

    2016-01-01

    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 stable trimeric complex that can prevent the formation of mutant Htt aggregates. Taken together, we conclude that xyloketal derivatives could be novel drug candidates for treating Huntington's disease. Molecular target analysis is a good method to simulate the interaction between proteins and drug compounds. Further, protective candidate drugs could be designed in future using the guidance of molecular docking results.

  8. ANIMAL MODELS FOR HUNTINGTON’S DISEASES: A REVIEW

    Directory of Open Access Journals (Sweden)

    Sharma Manisha

    2012-10-01

    Full Text Available Huntington's disease (HD is an inherited autosomal, progressive neurodegenerative disorder associated with involuntary abnormal movements (chorea, cognitive impairments and psychiatric disturbances. HD is caused by an abnormal expansion of a CAG region located in exon 1 of the gene encoding the huntingtin protein (Htt and is the causative factor in the pathogenesis of HD Animal models of HD have provided insight into disease pathology and the outcomes of thera- peutic strategies. Earlier studies of HD most often used toxin-induced models to study mitochondrial impairment and excitotoxicity-induced cell death, which are both mechanisms of degeneration seen in the HD brain. These models, based on 3-nitropropionic acid and quinolinic acid, respectively, are still often used in HD studies. The discovery in 1993 of the huntingtin mutation led to the creation of newer models that incorporate a similar genetic defect. These models, which include transgenic and knock-in rodents, are more representative of the HD progression and pathology. An even more recent model that uses a ovine transgenic model (sheep model,fly models ,cell cultures models for better understanding of gene mutation in and in mammalian and nonhuman primates, as it is difficult to produce genetic models in these species. This article examines the aforementioned models and describes their use in HD research, including aspects of the creation, de- livery, pathology, and tested therapies for each model.

  9. CT findings of hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

    Energy Technology Data Exchange (ETDEWEB)

    Tokiguchi, Susumu; Kurashima, Akihiko; Tsuchiya, Toshiaki; Ito, Jusuke; Naito, Haruhiko; Nagai, Hiroko; Wakabayashi, Masatoshi; Morita, Masahiro

    1987-12-01

    Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) has recently been recognized as a clinicopathological entity. It may be defined as a multisystem degenerative disease of dominant inheritance, and characterized clinically by a combination of epilepsy, myoclonus, ataxia, dementia, and choreo-athetosis. This paper reports on the CT findings of ten patients (in four families) with DRPLA. In two families, the diagnosis was established on the basis of the clinicopathological findings, while in the other two, the diagnosis was made clinically. Although the CT findings were not identical in all patients, some degree of atrophic change was always observed in the cerebellum, brainstem, and cerebral cortex. Cerebellar atrophy was always accompanied by a dilatation of the fourth ventricle. Midbrain atrophy was characterized by a prominent tegmental atrophy and aqueductal dilatation, such as is seen in progressive supranuclear palsy. Of the four patients over 40 years of age, three had a diffuse hypodensity of the cerebral white matter on CT. To our knowledge, there have been no previous reports on this hypodensity in patients with spino-cerebellar degeneration or Huntington's chorea. CT may be helpful in the differential diagnosis of progressive neuro-degenerative disorders.

  10. [Fiftieth anniversary of classical genetics of professor Noe (1943-1993)].

    Science.gov (United States)

    Cruz-Coke, R

    1993-05-01

    Fifty years ago, the author was a student of Dr Juan Noé's general biology course. Dr Noé, an italian physician and biologist, was the most outstanding european teacher in Chile during the first half of twentieth century (1912-1947) and was the founder of the "Instituto de Biología de la Universidad de Chile". In 1943 Dr Noé taught to the author the classical genetics of that age that included basic concepts of mendelian theory, evolution, comparative anatomy, cytogenetics, eugenics and normal and pathological inheritance. He also undertook controversial problems of those times such as eugenics, racism, humanism and the ambiguity about "inherited defects" associated to syphilis, alcoholism and tuberculosis. The author received a firm education on the history of biological sciences, mendelism, evolution and genetic etiology of classical hereditary diseases such as hemophilia, daltonism, Huntington chorea and muscular dystrophy. Furthermore, Noé made mention of the hereditary etiology of cancer in animals and human leukemias and of the concept of polygenic diseases as a consequence inheritance-environment interactions. The author concludes emphasizing the importance of basic and clinical education in the teaching of medical genetics.

  11. Evaluation of Anti-anxiety Activity of Actaea spicata Linn.

    Directory of Open Access Journals (Sweden)

    Reecha Madaan

    2011-01-01

    Full Text Available Actaea spicata Linn. (Ranunculaceae has been traditionally used for the treatment of various ailments such as rheumatism, inflammation, nerve diseases, lumbago, scrofula and chorea. Despite a long tradition of use, no systematic phytochemical and pharmacological work has been carried out on this potential plant. Thus, A. spicata was subjected to preliminary anti-anxiety screening studies, with a view to ascertain the verity of its traditional use as an anxiolytic. In the present investigation, roots of the plant were extracted using solvents in order of increasing polarity viz., petroleum ether (60-80C, chloroform, methanol and distilled water. All the crude extracts were evaluated for anti-anxiety activity in mice using elevated plus maze apparatus. Among all these extracts, only methanol extract exhibited significant anti-anxiety activity at a dose of 100 mg/kg in mice with respect to control as well as standard (diazepam, 2 mg/kg. Phytochemical screening showed presence of alkaloids and polyphenols in methanol extract of A. spicata. Thus, Specific methods were adopted to extract total alkaloidal and polyphenol fractions from the plant material and methanol extract of plant, respectively. Polyphenol fraction exhibited significant anxiolytic activity at the dose of 50 mg/kg, while alkaloidal fraction was found to be devoid of any activity.

  12. [Adult-onset rare diseases].

    Science.gov (United States)

    Pfliegler, György; Kovács, Erzsébet; Kovács, György; Urbán, Krisztián; Nagy, Valéria; Brúgós, Boglárka

    2014-03-01

    The present paper is focusing on rare diseases manifesting in late childhood or adulthood. A part of these syndromes are not of genetic origin, such as relatively or absolutely rare infections, autoimmune diseases, tumours, or diseases due to rare environmental toxic agents. In addition, even a large proportion of genetic disorders may develop in adulthood or may have adult forms as well, affecting are almost each medical specialization. Examples are storage disorders (e.g. adult form of Tay-Sachs disease, Gaucher-disease), enzyme deficiencies (e.g. ornithin-transcarbamylase deficiency of the urea cycle disorders), rare thrombophilias (e.g. homozygous factor V. Leiden mutation, antithrombin deficiency), or some rare monogenic disorders such as Huntington-chorea and many others. It is now generally accepted that at least half of the 6-8000 "rare diseases" belong either to the scope of adult-care (e.g. internal medicine, neurology), or to "age-neutral" specialities such as ophtalmology, dermatology etc.).

  13. Molecular analysis of the (CAGN repeat causing Huntington′s disease in 34 Iranian families

    Directory of Open Access Journals (Sweden)

    Hormozian F

    2004-01-01

    Full Text Available Huntington′s disease (HD is an inherited neurodegenerative disorder characterized by chorea and progressive dementia. The mutation causing the disease has been identified as an unstable expansion of a trinucleotide (CAG n at the 5′ end of the IT 15 gene on chromosome 4. We have analyzed the distribution of CAG repeats in 71 Iranian individuals (34 patients and 37 unaffected family members belonging to 31 unrelated families thought to segregate HD. We found one expanded CAG allele in 22 individuals (65% belonging to 21 unrelated families. In these HD patients, expanded alleles varied from 40 to 83 CAG units and normal alleles varied from 13 to 36 CAGs. A significant negative correlation between age at onset of symptoms and size of the expanded CAG allele was found (r= - 0.51; P=0. 1. In addition, we genotyped 25 unrelated control individuals (total of 50 alleles and found normal CAG repeats varying from 10 to 34 units. In conclusion, our results showed that molecular confirmation of the clinical diagnosis in HD should be sought in all suspected patients, making it possible for adequate genetic counseling. This Study is the first report of molecular diagnosis of Huntington disease among Iranian population and ever in Middle East and with regard to high frequency of consanguinity marriage in this region.

  14. Alterations of cortical excitability and central motor conduction time in Wilson's disease.

    Science.gov (United States)

    Jhunjhunwala, Ketan; Prashanth, D K; Netravathi, M; Nagaraju, B C; Pal, Pramod Kr

    2013-10-11

    Wilson's disease (WD) leads to widespread structural alterations of central nervous system and our objectives were to determine the cortical excitability changes in WD by using transcranial magnetic stimulation (TMS). Thirteen patients with WD, diagnosed by the presence of Kayser-Fleischer ring and biochemical tests, were studied. TMS was performed using a figure-of-eight coil attached to Magstim 200 stimulator. Motor evoked potentials (MEP) were recorded from right first dorsal interosseous at rest. Resting motor threshold (RMT) was determined using standard techniques and central motor conduction time (CMCT) by 'F' wave method. Comparison was made with control data of our laboratory. Dysarthria was the presenting symptom in 5 patients (38.5%) and chorea, tremors, dystonia and abnormal gait in 2 patients each (15.4%). RMT was recordable in 10 patients and not recordable in 3. Compared to controls, patients in whom RMT was recordable, had significantly higher mean RMT (80.9 ± 14.8 vs. 41.1 ± 7, pRMT, MEP could be obtained with active contraction. CMCT in these 2 patients was also prolonged. Patients with WD have reduced cortical excitability and prolonged CMCT which may be due to the intracortical presynaptic motor dysfunction.

  15. Quantitative MR Markers and Psychiatric Symptoms in a Patient with Fahr Disease

    Science.gov (United States)

    Buono, Viviana Lo; Corallo, Francesco; Costa, Antonio; Bramanti, Placido; Marino, Silvia

    2015-01-01

    Patient: Female, 43 Final Diagnosis: Fahr disease Symptoms: Movement disorder • chorea and tremors • cognitive deficit • behavioral aggressiveness and restlessness • visual hallucination Medication: Haloperidolo • levomepromazine • sodium valproate Clinical Procedure: Neurology examination • neuropsychological examination • MRI Specialty: Neurology Objective: Rare disease Background: Fahr’s disease (FD), or primitive idiopathic calcification of the basal ganglia, is a rare neurodegenerative syndrome characterized by the presence of idiopathic bilateral and symmetrical cerebral calcifications. Case Report: We describe the case of 43-year-old woman presenting with psychiatric symptoms, disorganized behavior, and migraine. Magnetic resonance imaging (MRI) examination showed basal ganglia calcifications. In addition, we analyzed the cortical brain volume and noted cortical atrophy. Extensive etiological clinico-biological assessment allowed us to exclude known causes of brain calcifications and to diagnose Fahr disease (FD). Neurological symptoms associated with psychiatric manifestations are not uncommon in FD. Conclusions: Purely psychiatric presentations are possible, as demonstrated by the present case, although there have been very few cases reported. To date, no studies related to the brain atrophy in FD have been reported. PMID:26094250

  16. Levodopa-induced dyskinesias in Parkinson's disease: clinical and pharmacological classification.

    Science.gov (United States)

    Luquin, M R; Scipioni, O; Vaamonde, J; Gershanik, O; Obeso, J A

    1992-01-01

    Levodopa-induced dyskinesias (LID) in Parkinson's disease (PD) may be classified into three main categories: "On" dyskinesias, diphasic dyskinesias (DD), and "off" periods. The study of 168 parkinsonian patients showed that about half (n = 84) showed one pattern of LID only. A combination of two was present in 68, and 16 had the three presentation patterns. A fairly good correlation between type of dyskinesia and presentation pattern was established. Chorea, myoclonus, and dystonic movements occurred during the "on" period. Dystonic postures, particularly affecting the feet, were mainly present in the "off" period, but a few patients had a diphasic presentation. Repetitive stereotyped movements of the lower limbs always corresponded to DD. Acute pharmacological tests using dopamine agonists (subcutaneous apomorphine 3-8 mg; intravenous lisuride 0.1-0.15 mg) and dopamine antagonists (intravenous sulpiride 200-400 mg and intravenous chlorpromazine 25 mg) were performed in 40 patients. Dopamine agonists enhanced "on" dyskinesias and markedly reduced or abolished "off" period dystonia and DD. Dopamine antagonists reduced all types of LID but usually aggravated parkinsonism. These clinical and pharmacological results indicate that LID in PD are a heterogeneous phenomenon difficult to explain on the basis of a single pathophysiological mechanism.

  17. 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.

  18. 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.

  19. Transplantation of Fetal Stem Cells: a New Horizon for Treat¬ment of Degenerative Diseases

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    Farideh RAZI

    2015-10-01

    Full Text Available Background: The purpose of the current study was to present an overview of different types of stem-cells and their application for treatment different degenerative disorders with specific focus on ongoing clinical trials. Methods: For the purpose of the current narrative review article, a comprehensive search was carried out on the existing literature in Google Scholar, PubMed and Scopus using the keywords: stem-cell (fetal and mesenchymal, regenerative. Relevant articles published from 1957 to 2013 are extracted and presented. Results: During the past decades, different types of stem-cells (including adult and fetal have been used for treatment of a wide range of immunologic (Severe Combined Immunodeficiency, Di George syndrome, neurologic (Parkinson’s disease, Huntington Chorea, Cerebral Palsy, musculoskeletal (ALS, and cardiovascular diseases (heart failure and cardiomyopathies as well as chronic and acute ulcers, and diabetes. Conclusion: The results of our study demonstrated that during the past decades, stem-cell technology has been applied for treatment of a wide range of degenerative disorders with considerable success. The current ongoing clinical trials clearly demonstrate a great potential and a promising future for the technology in terms of offering curative treatment for a wide range of hitherto-incurable diseases. Keywords: Stem cell, Transplantation, Treatment, Review Article 

  20. Novel mutational mechanism in man: Expansion of trinucleotide repeats

    Energy Technology Data Exchange (ETDEWEB)

    Ilarioshkin, S.N.; Ivanova-Smolenskaya, I.A.; Markova, E.D. [Research Institute of Neurology, Moscow (Russian Federation)

    1995-11-01

    An analysis of a novel, recently discovered class of mutations in man - an expansion, i.e., an increase of the copy number of intragenic unstable trinucleotide repeats - is presented. The expansion of trinucleotide X chromosome syndrome (two separate variants of the disease - FRAXA and FRAXE), myotonic dystrophy, spinal and bulbar Kennedy`s amyotrophy, Huntington`s chorea, type 1 spinocerebellar ataxia, and dentatorubral-pallidolyusian atrophy. The discovery of triplet expansion allows a satisfactory explanation on the molecular level of a series of unusual clinical genetic phenomena, such as anticipation, the {open_quotes}paternal transmission{close_quotes} effect, the {open_quotes}Sherman paradox,{close_quotes} and others. The common properties and the distinctions of unstable trinucleotide mutations in the nosologic forms mentioned above are analyzed comprehensively. These features include the mechanism by which these mutations cause disease, the time of their appearance in ontogenesis, and various clinical genetic correlations. The evolutionary origin of this class of mutations and, in particular, the role of alleles with an {open_quotes}intermediate{close_quotes} triplet number, which are the persistent reservoir of mutations arising de novo in a population, are also discussed. The possible implication of unstable trinucleotide repeats for a series of other hereditary diseases, such as type 2, spinocerebellar ataxia, Machado-Joseph disease, hereditary spastic paraplegia, essential tremor, schizophrenia, and others, is also suggested. 108 refs., 1 tab.

  1. Tourette's syndrome: clinical features, pathophysiology, and therapeutic approaches.

    Science.gov (United States)

    Müller, Norbert

    2007-01-01

    Tourette's syndrome (TS) is a disorder characterized by simple and complex motor tics, vocal tics, and frequently obsessive-compulsive symptoms. Its onset occurs before the age of 21. Typically, TS shows a waxing and waning course, but a chronification of the tics, even during later life, is often observed. TS mainly occurs in boys, and shows genetic heritability with differing penetrance. The pathological mechanism is still unclear Neuroanatomical and neuroimaging studies, as well as effective treatment using antipsychotics, suggest that a disturbance of the dopaminergic system in the basal ganglia plays an important role in the pathogenesis of TS. Several possibly causative mechanisms of the disturbed dopaminergic neurotransmission are discussed, with the main emphasis on the-infection-triggered-inflammatory immune process. Extrapyramidal movement disorders are known to occur as a symptom of poststreptococcal disease, such as in Sydenham's chorea. Cases of childhood TS are proposed to be caused by such a poststreptococcal mechanism, being part of a spectrum of childhood neurobehavioral disorders termed pediatric autoimmune neuropsychiatric disorder associated with streptococcal infection (PANDAS). The overlap between TS and PANDAS is discussed, and a critical view of the PANDAS concept is presented. The therapeutic implications of the different pathological mechanisms are described, taking into consideration not only the acute or chronic natures of different infections, but also an autoimmune process. Moreover, therapeutic strategies using typical and atypical antipsychotics, and also experimental therapies such as repetitive transcranial magnetic stimulation and deep brain stimulation, are critically discussed.

  2. Cannabis in movement disorders.

    Science.gov (United States)

    Müller-Vahl, K R; Kolbe, H; Schneider, U; Emrich, H M

    1999-10-01

    Central cannabinoid receptors are densely located in the output nuclei of the basal ganglia (globus pallidus, substantia nigra pars reticulata), suggesting their involvement in the regulation of motor activity. Furthermore, there is evidence that endogenous cannabinoid transmission plays a role in the manipulation of other transmitter systems within the basal ganglia by increasing GABAergic transmission, inhibiting glutamate release and affecting dopaminergic uptake. Most hyperkinetic and hypokinetic movement disorders are caused by a dysfunction of basal ganglia-thalamo-cortical loops. It has been suggested that an endogenous cannabinoid tone participates in the control of movements and, therefore, the central cannabinoid system might play a role in the pathophysiology of these diseases. During the last years in humans a limited number of clinical trials demonstrated that cannabinoids might be useful in the treatment of movement disorders. Despite the lack of controlled studies there is evidence that cannabinoids are of therapeutic value in the treatment of tics in Tourette syndrome, the reduction of levodopa-induced dyskinesia in Parkinson s disease and some forms of tremor and dystonia. It can be speculated that cannabinoid antagonists might be useful in the treatment of chorea in Huntington s disease and hypokinetic parkinsonian syndromes.

  3. HIV-related movement disorders: epidemiology, pathogenesis and management.

    Science.gov (United States)

    Cardoso, Francisco

    2002-01-01

    Clinically relevant movement disorders are identified in 3% of patients with HIV infection seen at tertiary referral centres. In the same setting, prospective follow-up shows that 50% of patients with AIDS develop tremor, parkinsonism or other extrapyramidal features. Hemiballism-hemichorea and tremor are the most common hyperkinesias seen in patients who are HIV positive, but other movement disorders diagnosed in these patients include dystonia, chorea, myoclonus, tics, paroxysmal dyskinesias and parkinsonism. Patients with movement disorders usually present with other clinical features such as peripheral neuropathy, seizures, myelopathy and dementia. In the vast majority of patients, hyperkinesias result from lesions caused by opportunistic infections, particularly toxoplasmosis, which damage the basal ganglia connections. On the other hand, parkinsonism and tremor can result from dopaminergic dysfunction resulting from HIV itself or the use of antidopaminergic drugs. The management of patients who are HIV positive who present with movement disorders involves recognition and treatment of opportunistic infections, symptomatic treatment of the movement disorder and the use of highly active antiretroviral therapy (HAART). The most effective treatment of cerebral toxoplasmosis in patients with HIV infection is the combination of sulfadiazine and pyrimethamine. Symptomatic treatment of the movement disorder is often disappointing: hemiballism improves with antipsychotics, but tremor, parkinsonism and other phenomena usually fail to respond to available therapies. Preliminary data suggest that HAART may be helpful in the symptomatic control as well as prevention of movement disorders in patients who are HIV positive.

  4. [Myoclonus in the adult: diagnostic approach].

    Science.gov (United States)

    Vercueil, L; Krieger, J

    2001-02-01

    Myoclonus, defined as shock-like involuntary movement, may be physiological or caused by a very wide variety of hereditary and acquired conditions. Because myoclonus can originate from different disorders and lesions affecting quite varied levels of the central and peripheral nervous systems, it represents from many points of view a diagnostic challenge. Moreover, new entities have been recently individualized, such as cortical tremor, which deserve renewed attention. The aim of this review is to propose a rationale for a diagnostic approach based on clinical and electrophysiological grounds. In this setting, we successively address 1) the clinical features allowing a positive diagnosis of myoclonus; 2) the clinical clues to the etiology; 3) the relevance of the clinical context to the diagnosis; and 4) the contribution of neurophysiology. Differentiating myoclonus from tics, spasm, chorea and dystonia can be difficult, and a careful reappraisal of clinical features allowing precise identification is presented. Moreover, the topographical distribution of myoclonus, the temporal pattern of muscle recruitment, the condition of occurrence and the rhythm of the event, may provide clinical clues relevant to the diagnosis. Myoclonus without associated epilepsy, myoclonus with epilepsy, myoclonus with encephalopathy, parkinsonism and/or dementia represent overlapping clinical categories, although they remain useful for the diagnostic approach. Using electrophysiology (including back-averaging EEG, MEG, SEP, C-reflex studies) to determine the origin of myoclonus may not allow us to focus on the underlying condition. Indeed, in many instances, the myoclonus is cortical in origin, but the pathology is found elsewhere.

  5. 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.

  6. The internal state of medium spiny neurons varies in response to different input signals

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    Miller Gary W

    2010-03-01

    Full Text Available Abstract Background Parkinson's disease, schizophrenia, Huntington's chorea and drug addiction are manifestations of malfunctioning neurons within the striatum region at the base of the human forebrain. A key component of these neurons is the protein DARPP-32, which receives and processes various types of dopamine and glutamate inputs and translates them into specific biochemical, cellular, physiological, and behavioral responses. DARPP-32's unique capacity of faithfully converting distinct neurotransmitter signals into appropriate responses is achieved through a complex phosphorylation-dephosphorylation system that evades intuition and predictability. Results To gain deeper insights into the functioning of the DARPP-32 signal transduction system, we developed a dynamic model that is robust and consistent with available clinical, pharmacological, and biological observations. Upon validation, the model was first used to explore how different input signal scenarios are processed by DARPP-32 and translated into distinct static and dynamic responses. Secondly, a comprehensive perturbation analysis identified the specific role of each component on the system's signal transduction ability. Conclusions Our study investigated the effects of various patterns of neurotransmission on signal integration and interpretation by DARPP-32 and showed that the DARPP-32 system has the capability of discerning surprisingly many neurotransmission scenarios. We also screened out potential mechanisms underlying this capability of the DARPP-32 system. This type of insight deepens our understanding of neuronal signal transduction in normal medium spiny neurons, sheds light on neurological disorders associated with the striatum, and might aid the search for intervention targets in neurological diseases and drug addiction.

  7. Antiphospholipid syndrome

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    Pavlović Dragan M.

    2010-01-01

    Full Text Available Antiphospholipid syndrome (APS is an autoimmune disease with recurrent thromboses and pregnancy complications (90% are female patients that can be primary and secondary (with concomitant autoimmune disease. Antiphospholipid antibodies are prothrombotic but also act directly with brain tissue. One clinical and one laboratory criterion is necessary for the diagnosis of APS. Positive serological tests have to be confirmed after at least 12 weeks. Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome. About 50% of strokes below 50 years of age are caused by APS. The first line of therapy in stroke is anticoagulation: intravenous heparin or low-weight heparins. In chronic treatment, oral anticoagulation and antiplatelet therapy are used, warfarin and aspirin, mostly for life. In resistant cases, corticosteroids, intravenous immunoglobulins and plasmapheresis are necessary. Prognosis is good in most patients but some are treatment-resistant with recurrent thrombotic events and eventually death.

  8. Rheumatic Fever Associated with Antiphospholipid Syndrome: Systematic Review

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    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.

  9. Antiphospholipid syndrome and rheumatic fever: a case spanning three decades of changing concepts and common immunological mechanisms.

    Science.gov (United States)

    Alcock, R; Elsik, M; Yiannikas, C; Yiannikas, J

    2011-10-01

    We present a case of primary antiphospholipid syndrome (APS), initially diagnosed as acute rheumatic fever, resulting in severe mitral valve incompetence. This case raises questions of the specificity of the Jones diagnostic criteria for rheumatic fever in a population where it is infrequently encountered. There are similarities in clinical, pathological and echocardiographic presentations between rheumatic fever and APS, in addition to common immunological mechanisms. Our case highlights the possibility that rather than rheumatic fever being primarily responsible for her recurrent attacks of chorea and arthritis, the streptococcal infections in our patient occurred either in the setting of underlying antiphospholipid antibodies ('second hit' phenomenon), or may have triggered the development of pathogenic antibodies (molecular mimicry), subsequently leading to the clinical evolution of APS. During the three decades of our patient and her recurrent problems, there has been an evolving knowledge of the mechanisms of APS and rheumatic fever, allowing us to extend our understanding beyond symptoms and syndromes, to a better realization of the underlying immunological relationship between the two.

  10. Gain-of-function Lyn induces anemia: appropriate Lyn activity is essential for normal erythropoiesis and Epo receptor signaling.

    Science.gov (United States)

    Slavova-Azmanova, Neli S; Kucera, Nicole; Satiaputra, Jiulia; Stone, Leah; Magno, Aaron; Maxwell, Mhairi J; Quilici, Cathy; Erber, Wendy; Klinken, S Peter; Hibbs, Margaret L; Ingley, Evan

    2013-07-11

    Lyn is involved in erythropoietin (Epo)-receptor signaling and erythroid homeostasis. Downstream pathways influenced following Lyn activation and their significance to erythropoiesis remain unclear. To address this, we assessed a gain-of-function Lyn mutation (Lyn(up/up)) on erythropoiesis and Epo receptor signaling. Adult Lyn(up/up) mice were anemic, with dysmorphic red cells (spherocyte-like, acanthocytes) in their circulation, indicative of hemolytic anemia and resembling the human disorder chorea acanthocytosis. Heterozygous Lyn(+/up) mice became increasingly anemic with age, indicating that the mutation was dominant. In an attempt to overcome this anemia, extramedullary erythropoiesis was activated. As the mice aged, the levels of different immature erythroid populations changed, indicating compensatory mechanisms to produce more erythrocytes were dynamic. Changes in Epo signaling were observed in Lyn(+/up) erythroid cell lines and primary CD71(+) Lyn(up/up) erythroblasts, including significant alterations to the phosphorylation of Lyn, the Epo receptor, Janus kinase 2, Signal Transducer and Action of Transcription-5, GRB2-associated-binding protein-2, Akt, and Forkhead box O3. As a consequence of altered Lyn signaling, Lyn(+/up) cells remained viable in the absence of Epo but displayed delayed Epo-induced differentiation. These data demonstrate that Lyn gene dosage and activity are critical for normal erythropoiesis; constitutively active Lyn alters Epo signaling, which in turn produces erythroid defects.

  11. Genetic modifiers of Huntington's disease.

    Science.gov (United States)

    Gusella, James F; MacDonald, Marcy E; Lee, Jong-Min

    2014-09-15

    Huntington's disease (HD) is a devastating neurodegenerative disorder that directly affects more than 1 in 10,000 persons in Western societies but, as a family disorder with a long, costly, debilitating course, it has an indirect impact on a far greater proportion of the population. Although some palliative treatments are used, no effective treatment exists for preventing clinical onset of the disorder or for delaying its inevitable progression toward premature death, approximately 15 years after diagnosis. Huntington's disease involves a movement disorder characterized by chorea, as well as a variety of psychiatric disturbances and intellectual decline, with a gradual loss of independence. A dire need exists for effective HD therapies to alleviate the suffering and costs to the individual, family, and health care system. In past decades, genetics, the study of DNA sequence variation and its consequences, provided the tools to map the HD gene to chromosome 4 and ultimately to identify its mutation as an expanded CAG trinucleotide repeat in the coding sequence of a large protein, dubbed huntingtin. Now, advances in genetic technology offer an unbiased route to the identification of genetic factors that are disease-modifying agents in human patients. Such genetic modifiers are expected to highlight processes capable of altering the course of HD and therefore to provide new, human-validated targets for traditional drug development, with the goal of developing rational treatments to delay or prevent onset of HD clinical signs.

  12. Synthesis of carbon-11 labeled dexetimide and levetimide for studying muscarinic acetylcholine receptors

    Energy Technology Data Exchange (ETDEWEB)

    Dannals, R.F.; Langstrom, B.; Ravert, H.T.; Wilson, A.A.; Wagner, H.N. Jr.

    1985-05-01

    The localization and quantitation of the muscarinic acetylcholine receptor (m-AChR) in the living human brain using a non-invasive method, such as positron emission tomography (PET), may provide valuable information about receptor changes which have been observed post mortem in patients with Huntington's chorea and Alzheimer's dementia, as well as normal brain mechanisms mediated by the m-AChR. Although quinuclidinyl benzilate has been radioiodinated and radiomethylatd, the former is not useful with PET and the latter does not penetrate the blood-brain barrier; therefore, the authors chose to radiolabel dexetimide, a ligand which labels m-AChR in vitro and in vivo, and levetimide, its inactive enantiomer. Carbon-11 labeled carbon dioxide is bubbled through a tetrahydrofuran (THF) solution of phenylmagnesium chloride (1 M, l ml) after which 2 mg of lithium aluminium hydride is added in THF (500 ..mu..l). After evaporation of the solvent, 48% hydriodic acid (l ml) is added and the solution is heated for 1 minute. Carbon-11 labeled benzyl iodide is extracted into methylene chloride, added to a solution of nor-benzyl dexetimide or levetimide, and heated for several minutes. Purification is accomplished using semi-preparative reverse phase high performance liquid chromatography (HPLC). Analytical HPLC is used to determine the radiochemical purity and specific activity.

  13. Identifying the genetic components underlying the pathophysiology of movement disorders

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    Ezquerra M

    2011-06-01

    Full Text Available Mario Ezquerra, Yaroslau Compta, Maria J MartiParkinson’s Disease and Movement Disorders Unit, Service of Neurology, Institute of Clinical Neurosciences, Hospital Clinic of Barcelona, IDIBAPS, CIBERNED, SpainAbstract: Movement disorders are a heterogeneous group of neurological conditions, few of which have been classically described as bona fide hereditary illnesses (Huntington’s chorea, for instance. Most are considered to be either sporadic or to feature varying degrees of familial aggregation (parkinsonism and dystonia. In the late twentieth century, Mendelian monogenic mutations were found for movement disorders with a clear and consistent family history. Although important, these findings apply only to very rare forms of movement disorders. Already in the twenty-first century, and taking advantage of the modern developments in genetics and molecular biology, growing attention is being paid to the complex genetics of movement disorders. The search for risk genetic variants (polymorphisms in large cohorts and the identification of different risk variants across different populations and ethnic groups are under way, with the most relevant findings to date corresponding to recent genome wide association studies in Parkinson’s disease. These new approaches focusing on risk variants may enable the design of screening tests for early or even preclinical disease, and the identification of likely therapeutic targets.Keywords: genetics, movement disorders, Parkinson’s disease, parkinsonism, dystonia

  14. 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.

  15. 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.

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

    Science.gov (United States)

    Zeng, Yixuan; Guo, Wenyuan; Xu, Guangqing; Wang, Qinmei; Feng, Luyang; Long, Simei; Liang, Fengyin; Huang, Yi; Lu, Xilin; Li, Shichang; Zhou, Jiebin; Burgunder, Jean-Marc; Pang, Jiyan; Pei, Zhong

    2016-01-01

    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 stable trimeric complex that can prevent the formation of mutant Htt aggregates. Taken together, we conclude that xyloketal derivatives could be novel drug candidates for treating Huntington’s disease. Molecular target analysis is a good method to simulate the interaction between proteins and drug compounds. Further, protective candidate drugs could be designed in future using the guidance of molecular docking results. PMID:27110099

  17. [The concept of tic in the history of abnormal movements].

    Science.gov (United States)

    Dordain, G

    1986-01-01

    History of abnormal movements started during the 14th century. At that time the St Vitus' Dance was described, but the nosology of dyskinesias remained confusing during the next five centuries. The concept of tic was elaborated in France during the 18th century. It remained too large a concept however. Definitive semiologies appeared at the end of the 19th century, thus allowing tics to emerge from the "chaos of choreas". The etymology of the word "tic" still remains mysterious. In 1905, Meige thought that the word tic was used for the first time by reference to horses. He referred to the tic of the bear in the horse described by Rudler and Chomel at The Société de Neurologie de Paris in 1903. Veterinarians were thus probably the first to describe the word. If so, however, the horse must leave anteriority to the goat. The word Ticq was used in 1611 as mentioned by the French dictionary Robert. The word is said to be an onomatopea and is compared to the italian word ticchio which means caprice. Another dictionary (Littré) suggest the german word "ticken", which means "to touch slightly", the galic word tacaid (sudden pain) and the german ziki (young goat), a word which could have lead to ticchio as capra, goat in italian, gave capricio.

  18. [Tics and Gilles de la Tourette syndrome].

    Science.gov (United States)

    de Mattos, J P; de Rosso, A L

    1995-03-01

    The concept of tic was developed at the end of the XIX century, emerging from the "chaos of choreas". Tic is defined as involuntary contractions of agonist and antagonist muscles in one or more parts of the body. It can be suppressed by voluntary efforts for seconds or hours, followed by exacerbations. Gilles de la Tourette's original article was published in 1885, in which he described nine patients with tics, and vocalisations. The pathogenesis of Gilles de la Tourette syndrome remained obscure. However, three factors have been considered: the neurochemical factor, related to the increased dopaminergic activity at the basal ganglia; the genetic factor and the non-genetic factors, for which environment more than genetic factors are involved. Pathologic examinations failed to reveal structural lesions, but PET studies showed metabolic hypofunction on the frontal, cingulate and possibly insular cortex, and on the inferior corpus striatum. The motor tics as well as the vocal tics can be simple or complex and are present in all patients. Other signs can be added to the previous tics: sensory tics, echophilia, coprophilia, obsessions, compulsions and impulsions. Diagnostic criteria of Gilles de la Tourette syndrome are based on: age of onset; presence of motor and vocal tics; voluntary suppression of the movements; variation in number, type, location and severity of tics; duration of more than one year. Haloperidol is the drug of choice for the treatment of Tourette's syndrome.

  19. PANDAS: the search for environmental triggers of pediatric neuropsychiatric disorders. Lessons from rheumatic fever.

    Science.gov (United States)

    Garvey, M A; Giedd, J; Swedo, S E

    1998-09-01

    Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) is a relatively new diagnostic construct applied to children or adolescents who develop, and have repeated exacerbations of, tic disorders and/or obsessive-compulsive disorder following group A beta-hemolytic streptococcal infections. The proposed pathophysiology is that the group A beta-hemolytic streptococcal bacteria trigger antibodies that cross-react with the basal ganglia of genetically susceptible hosts leading to obsessive-compulsive disorder and/or tics. This is similar to the etiologic mechanisms proposed for Sydenham's chorea, in which group A beta-hemolytic streptococcal antibodies cross-react with the basal ganglia and result in abnormal behavior and involuntary movements. When first proposed, there was much controversy about the idea that streptococcal infections were etiologically related to rheumatic fever. In a like manner, discussion has arisen about the concept of infection-triggered obsessive-compulsive disorder and tic disorders. We review the historical background to these controversies, give an update on the findings provided by research on PANDAS, and address areas of future study.

  20. 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.

  1. 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.

  2. Aripiprazole in the treatment of Huntington’s disease: a case series

    Directory of Open Access Journals (Sweden)

    Andrea Ciammola

    2008-11-01

    Full Text Available Andrea Ciammola1, Jenny Sassone1, Clarissa Colciago1, Niccolò E Mencacci1, Barbara Poletti1, Andrea Ciarmiello2, Ferdinando Squitieri3, Vincenzo Silani11Department of Neurology and Laboratory of Neuroscience, “Dino Ferrari” Centre, University of Milan Medical School – IRCCS Istituto Auxologico Italiano, Milano, Italy; 2Unit of Nuclear Medicine, S. Andrea Hospital, La Spezia, Italy; 3Neurogenetics Unit, IRCCS Neuromed, Pozzilli (IS, ItalyObjectives: The aim of the study was to describe the effects of aripiprazole, a new atypical antipsychotic drug that acts as a partial dopamine agonist on motor, behavioral and cognitive functions in patients with genetically confirmed Huntington’s disease (HD.Methods and results: Three HD patients were evaluated for Unified Huntington Disease Rating Scale part I and II and Beck Depression Inventory at baseline, after two months and one-year treatment. Aripiprazole effectively controlled involuntary movements and psychiatric symptoms, with effects on cognitive functions.Conclusions: Our case reports suggest that aripiprazole is well tolerated, remarkably improving some of the motor and behavioral symptoms in patients affected by HD. Randomized, controlled, long-term studies are warranted.Keywords: Huntington’s disease, aripiprazole, treatment, chorea

  3. The Role of Dopamine and Glutamate Modulation in Huntington Disease

    Science.gov (United States)

    Mittal, Sumeer K.; Eddy, Clare

    2013-01-01

    Background: Huntington disease (HD) is an inherited neuropsychiatric condition with progressive neurodegenerative changes, mainly affecting the striatum. Pathological processes within the striatum are likely to lead to alterations in dopamine and glutamate activity in frontostriatal circuitry, resulting in characteristic motor, behavioural and cognitive symptoms. Methods: We conducted a systematic literature search in order to identify and review randomised, double-blinded, placebo-controlled trials of anti-dopaminergic and anti-glutamatergic therapy in HD. Results: Ten studies satisfied our selection criteria. These studies investigated a range of agents which act to antagonise dopamine (tetrabenazine, typical and atypical antipsychotics) or glutamate (amantadine, riluzole) transmission. Discussion: Although most agents showed efficacy in terms of amelioration of chorea, the available evidence did not allow us to identify a universally effective treatment. One difficulty associated with analysing the available evidence was a high prevalence of side effects, which prevented the full therapeutic potential of the medications from being adequately investigated. A further limitation is that many studies evaluated treatment effectiveness only in relation to patients' motor symptoms, even though behavioural and cognitive changes may negatively impact patients' quality of life. There is a clear need for further higher-level evidence addressing the effects of dopaminergic and glutamatergic agents on global functioning in HD. PMID:22713410

  4. Role of Striatal-Enriched Tyrosine Phosphatase in Neuronal Function

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    Marija Kamceva

    2016-01-01

    Full Text Available Striatal-enriched protein tyrosine phosphatase (STEP is a CNS-enriched protein implicated in multiple neurologic and neuropsychiatric disorders. STEP regulates key signaling proteins required for synaptic strengthening as well as NMDA and AMPA receptor trafficking. Both high and low levels of STEP disrupt synaptic function and contribute to learning and behavioral deficits. High levels of STEP are present in human postmortem samples and animal models of Alzheimer’s disease, Parkinson’s disease, and schizophrenia and in animal models of fragile X syndrome. Low levels of STEP activity are present in additional disorders that include ischemia, Huntington’s chorea, alcohol abuse, and stress disorders. Thus the current model of STEP is that optimal levels are required for optimal synaptic function. Here we focus on the role of STEP in Alzheimer’s disease and the mechanisms by which STEP activity is increased in this illness. Both genetic lowering of STEP levels and pharmacological inhibition of STEP activity in mouse models of Alzheimer’s disease reverse the biochemical and cognitive abnormalities that are present. These findings suggest that STEP is an important point for modulation of proteins required for synaptic plasticity.

  5. Is motor neuron disease-inclusion dementia a forme fruste of amyotrophic lateral sclerosis with dementia? An autopsy case further supporting the disease concept.

    Science.gov (United States)

    Toyoshima, Yasuko; Tan, Chun-Feng; Kozakai, Tetsuro; Tanaka, Masaharu; Takahashi, Hitoshi

    2005-09-01

    We report the autopsy findings of a 62-year-old man who exhibited progressive FTD 10 years before the appearance of muscle weakness and wasting, and who died approximately 11 years after onset of the symptoms. Degeneration and atrophy of the frontal and temporal lobes, which contained ubiquitin-positive neuronal inclusions and dystrophic neurites, were evident. Circumscribed degeneration affecting the hippocampal CA1-subiculum border zone was also a feature. Moreover, degeneration was present in both the upper and lower motor neuron systems, the latter being more severely affected. A few lower motor neurons were found to contain the cytoplasmic inclusions characteristic of ALS (i.e. Bunina bodies and ubiquitin-positive skeins). Also of interest was the presence of pallidonigroluysian atrophy, which appeared to be responsible for the chorea-like involuntary movements that developed in this patient approximately 2 months before death. The clinical and pathological features of our patient further support the idea that motor neuron disease-inclusion dementia (MND-ID), which has been classified as a pathological subgroup of FTD, is a forme fruste of ALS with dementia. In other words, if patients with MND-ID live long enough, they may develop ALS.

  6. THE UTILITY OF A SINGLE ANTI STREPTOLYSIN O TITER IN THE DIAGNOSIS OF ACUTE RHEUMATIC FEVER

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    Anil

    2014-07-01

    Full Text Available BACKGROUND: Acute Rheumatic Fever still affects millions of children in the developing world, the diagnosis of rheumatic fever is based on the Jones criteria and supporting evidence of preceding streptococcal infection from a positive throat culture or elevated ASO titers. However, some clinicians have questioned the role of a single ASO titer in the diagnosis of acute rheumatic fever. AIMS AND OBJECTIVES: To determine the utility of a single ASO titer level and its correlation with Jones major criteria. MATERIAL AND METHODS: 12 children diagnosed with rheumatic fever at our hospital in the preceding two years were included. A single ASO titer done in these children using a turbidimetric immunoassay was recorded OBSERVATIONS: The ASO titer levels ranged from 185 to 1691 IU/ml. The highest levels were seen with features of acute carditis and the lowest levels in association with chorea. CONCLUSION: A single ASO titer retains its role as a useful diagnostic tool and inversely correlates with disease progression.

  7. Association of Huntington's disease and schizophrenia-like psychosis in a Huntington's disease pedigree

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    Guimarães João

    2006-02-01

    Full Text Available Abstract Background Huntington's disease (HD is a dominantly inherited, neurodegenerative disorder due to expansion of a polymorphic trinucleotide repeat in the short arm of chromosome 4. Clinical manifestations consist of a triad of choreic movements, cognitive decline and psychiatric syndromes starting in the fourth to fifth decade. Psychiatric manifestations vary and may precede motor and cognitive changes. Personality changes and depression occur most commonly. Paranoid schizophrenia-like symptoms occur in 6% to 25% of cases. Case report We describe a 55 year-old woman with an 8 yearlong history of behavioural changes, multi-thematic delusions and auditory hallucinations. History and mental state examination were suggestive of paranoid schizophrenia. Neurological examination revealed discrete, involuntary movements affecting her arms and trunk. Genotyping detected an expanded allele (43 trinucleotide repeats. A three-generation-long family history of chorea and schizophrenia-like psychosis was found. Conclusion HD-families have been reported in which schizophrenia-like syndromes emerged in all or most HD-affected members long before they developed extra-pyramidal or cognitive changes. This has been attributed to more than mere coincidence. We hypothesise that in these families the HD gene is transmitted along with a low load of small-effect "psychosis genes" which, in the presence of the severe cognitive changes of HD, manifest as a schizophrenia-like phenotype. Further research is needed in order to clarify the links between genetic loading and the emergence of psychotic symptoms in Huntington's disease.

  8. Rate of change in early Huntington's disease: a clinicometric analysis.

    Science.gov (United States)

    Meyer, Christina; Landwehrmeyer, Bernhard; Schwenke, Carsten; Doble, Adam; Orth, Michael; Ludolph, Albert C

    2012-01-01

    Sensitive outcome measures for patients with Huntington's disease (HD) are required for future clinical trials. Longitudinal data were collected from a 3-year study of 379 patients suffering from early HD who were not treated by antipsychotics. Progression of UHDRS item scores was evaluated by linear regression and slope, whereas correlation coefficient, standard error, and P values were estimated on the basis of the data of eight evaluations from screening to study end (36 months). For the functional assessment dimension, the proportion of "no" responses at baseline and at study end was determined. Linear progression was observed for the motor score and for all three functional measures (i.e., functional assessment score, independence assessment score, and total functional capacity score). In contrast, there was little evidence for progression of the behavioral assessment score over the study period, whereas the cognitive assessment score was intermediate. Twenty-two motor-score items showed linear progression, with a slope of >0.003. These included all chorea items, finger tapping and pronation/supination (left and right), gait, tongue protrusion, and tandem walking. Different symptom domains and individual items evolved at different rates in this group of patients suffering from early HD. It may be possible to select sensitive items to create a simplified version of the UHDRS, which would be more efficient and more sensitive for the assessment of disease progression in clinical trials and natural history studies.

  9. Vascular hemichorea: case report and review

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    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.

  10. Clinical and neuroimagings analysis in 10 patients with lupus encephalopathy%狼疮脑病10例临床神经影像特征分析

    Institute of Scientific and Technical Information of China (English)

    刘智; 陈琳; 崔丽英; 钱敏; 李晓光

    2012-01-01

    Objective To report specific clinico-radiological syndromes in neuropsychiatric systemic lupus erythematosus (NPSLE).Methods Ten patients with NPSLE in Peking Union Medical College Hospital from 2005 to 2011 were studied retrospectively with magnetic resonance imaging, computer tomography or positron emission tomography. Results Posterior reversible encephalopathy syndrome was diagnosed in 2 patients with radiological features,headache and tonic-clonic seizure;3 patients with bilateral diffuse leukoencephalopathy,cognitive disorder and acute confusional state; 1 Fahr' s disease patient,with cognitive disorder and psychiatric symptom,movement disorder; 2 Parkinsonism patients with tremor and cogwheel rigidity,and 2 chorea patients. Conclusions The emergence of diffuse brain calcinosis,leukoencephalopathy and edema may happen in lupus encephalopathy particularly.Autoantibody reaction and vascular disease may play an important role in movement disorder including Parkinsonism and chorea.%目的 研究系统性红斑狼疮累及中枢神经系统中具有特征性临床-神经影像综合征患者的临床及神经影像特点,并探讨其可能的发生机制.方法 通过回顾性分析北京协和医院2005-2011年收治的10例系统性红斑狼疮患者的临床及神经影像学资料,复习文献,总结分析临床及神经影像特点.结果 10例患者根据临床神经影像特点分类:2例后循环可逆性脑病,临床表现为头痛、癫痫大发作;2例帕金森综合征患者,临床表现为震颤、肌张力齿轮样增高;2例舞蹈病患者,3例弥漫性白质脑病患者,临床表现为精神症状、认知功能障碍及急性意识模糊状态;1例Fahr综合征,临床表现为精神症状及认知功能障碍.结论 临床表现为运动障碍的狼疮脑病可能与局部基底节区的免疫反应或血管病变相关,而基于神经影像学发现,狼疮脑病也可引起广泛钙化、水肿及脑白质病变.

  11. Diagnosis and Treatment of Acute Ischemic Stroke Characterized by Hemichorea%以偏侧舞蹈症为主要表现的急性缺血性卒中临床分析

    Institute of Scientific and Technical Information of China (English)

    宋巧英; 刘卫刚; 李玲; 田瑞振; 董艳红; 吕佩源

    2012-01-01

    目的 探讨以偏侧舞蹈症为主要表现的急性缺血性卒中病因、发病机制、影像学特点和治疗.方法 对23例以偏侧舞蹈症为主要表现的急性缺血性卒中患者的临床表现、实验室检查、影像学检查、治疗及预后进行回顾性分析.结果 合并糖尿病14例;舞蹈症状累及偏侧肢体22例,双侧肢体受累1例;责任病灶多位于偏侧舞蹈症状对侧尾状核、壳核;责任病灶对侧基底核区存在病变者10例;12例给予常规治疗后舞蹈症状好转,11例加用氟哌啶醇后7例症状好转;半年后12例症状消失未再复发.结论 急性缺血性卒中可引起偏侧舞蹈症,糖尿病是引发偏侧舞蹈症的重要危险因素之一;以对侧尾状核、壳核病变所致为主,同侧基底核区病变也可致病;在原发病治疗的基础上应用氟哌啶醇可改善症状.%Objective To investigate the etiology, clinical characteristics, imaging characteristics and treatment of hemichorea caused by acute ischemic stroke. Methods Clinical manifestation, laboratory tests, imaging changes, treatment and prognosis of 23 hemichorea patients caused by acute ischemic stroke were retrospectively analyzed. Results 14 cases were combined with diabetes. 22 cases were hemichorea and 1 case was bilateral chorea. The lesion was mainly in caudate nucleus and puta-men on the opposite side of hemichorea;10 cases had lesion in basal ganglion on the opposite side of hemichorea;chorea of 12 cases relieved after receiving routine treatment, and 7 cases improved after receiving routine treatment combined with haloperi-dol. 6 months later, the symptoms disappeared in the 12 cases without relapse. Conclusion Acute ischemic stroke can cause hemichorea, and diabetes is an important risk factor. Hemichorea is mainly originated from the caudate nucleus and putamen on the opposite side of hemichorea, but basal ganglion in the same side can also lead to the disease. In addition to routine treatment

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

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    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

  13. 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.

  14. Central nervous system involvement in pediatric rheumatic diseases: current concepts in treatment.

    Science.gov (United States)

    Duzova, Ali; Bakkaloglu, Aysin

    2008-01-01

    Central nervous system (CNS) manifestations are not rare in pediatric rheumatic diseases. They may be a relatively common feature of the disease, as in systemic lupus erythematosus (SLE) and Behçet's disease. Direct CNS involvement of a systemic rheumatic disease, primary CNS vasculitis, indirect involvement secondary to hypertension, hypoxia and metabolic changes, and drug associated adverse events may all result in CNS involvement. We have reviewed the CNS manifestations of SLE, Behçet's disease, Henoch-Schönlein purpura, polyarteritis nodosa, juvenile idiopathic arthritis, juvenile ankylosing spondylitis, familial Mediterranean fever, scleroderma, sarcoidosis, Wegener's granulomatosis, Takayasu's arteritis, CINCA syndrome, Kawasaki disease, and primary CNS vasculitis; and adverse CNS effects of anti-rheumatic drugs in pediatric patients. The manifestations are diverse; ranging from headache, seizures, chorea, changes in personality, depression, memory and concentration problems, cognitive impairment, cerebrovascular accidents to coma, and death. The value of cerebrospinal fluid (CSF) examination (pleocytosis, high level of protein), auto-antibodies in serum and CSF, electroencephalography, neuroimaging with computerized tomography, magnetic resonance imaging, SPECT, PET, and angiography depends on the disease. Brain biopsy is gold standard for the diagnosis of CNS vasculitis, however it may be inconclusive in 25% of cases. A thorough knowledge of the rheumatic diseases and therapy-related adverse events is mandatory for the management of a patient with rheumatic disease and CNS involvement. Severe CNS involvement is associated with poor prognosis, and high mortality rate. High dose steroid and cyclophosphamide (oral or intravenous) are first choice drugs in the treatment; plasmapheresis, IVIG, thalidomide, and intratechal treatment may be valuable in treatment-resistant, and serious cases.

  15. Problems and solutions to filling the drying drug pipeline for psychiatric disorders: a report from the inaugural 2012 CINP Think Tank.

    Science.gov (United States)

    Dean, Brian; Moller, Hans-Jürgen; Svensson, Torgny H; Geyer, Mark A; Rujescu, Dan; Scarr, Elizabeth; Millan, Mark J

    2014-01-01

    The inaugural Collegium Internationale Neuro-Psychopharmacologicum (CINP) Think Tank, a small open meeting sponsored by the CINP, discussed impediments to developing new drugs for psychiatric disorders and approaches to overcome these impediments. Whilst neuropsycharmacology has a rich pharmacopeia (current treatments benefiting many individuals), issues of treatment resistance, sub-optimal response and unwanted side effects remain problematic. Many scientific, economic and social issues are impeding the development of drugs (e.g. higher risk of failure, placebo effects, problematic regulatory environments, pressures imposed by patent protection, downward pressure on reimbursements and financial, legal and social risk aversion). A consensus of the meeting was that efforts to understanding the core pathophysiology of psychiatric disorders are fundamental to increasing the chance of developing new drugs. However, findings from disorders such as Huntington's chorea, have shown that knowing the cause of a disorder may not reveal new drug targets. By contrast, clinically useful biomarkers that define target populations for new drugs and models that allow findings to be accurately translated from animals to humans will increase the likelihood of developing new drugs. In addition, a greater accent on experimental medicine, creative clinical investigations and improved communication between preclinical neuropsychopharmacologists, clinicians committed to neuropsychopharmacological research, industry and the regulators would also be a driver to the development of new treatments. Finally, it was agreed that the CINP must continue its role as a conduit facilitating vibrant interactions between industry and academia as such communications are a central component in identifying new drug targets, developing new drugs and transitioning new drugs into the clinic.

  16. 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.)

  17. Diagnosis of a constitutional five-chromosome rearrangement by fluorescent in situ hybridization (FISH)

    Energy Technology Data Exchange (ETDEWEB)

    Tsien, F.; Shapira, E. [Tulane Univ. School of Medicine, New Orleans, LA (United States); Carvalho, T. [Hospital Sarah Kubitschek, Brasilia (Brazil)] [and others

    1994-09-01

    Complex chromosomal rearrangements are structural rearrangements involving at least three chromosomes and three or more chromosome breakpoints. Such karyotypes are often acquired during cancer multi-step development and in chromosome instability syndromes. However, extremely rare constitutional forms have been reported, most of which are incompatible with life. We present a 2-year-old female with de novo complex rearrangement consisting of five chromosomes and nine breakpoints. Clinical evaluation at two years of age revealed a weight of 5 kg, length of 66 cm, and had circumference of 38 cm, all below the 5th percentile, microcephaly, trigonocephaly, epicanthal folds, inguinal hernia, left clubfoot, hypertonicity, and developmental delay. The neurological examination revealed chorea-acanthocytosis and psychomotor delay. Cultured lymphocytes and fibroblasts revealed a karyotype consisting of five derivative chromosomes. The metaphases were further analyzed by FISH using chromosome-specific libraries and telomeric probes in order to delineate the composition of the rearranged chromosomes; FISH results demonstrated a karyotype of: 46,XX,1pter{r_arrow}1q25::1q42.1{r_arrow}1qter, 2pter{r_arrow}q32.3::1q32.3{r_arrow}2q41::2q37.3{r_arrow}2qter, 7qter{r_arrow}7q21.2::6q22.3{r_arrow}6qter::1q31{r_arrow}1q32.3::6p23{r_arrow}6q22.3, 7pter{r_arrow}7q21.1::6p23{r_arrow}6pter, 2q33{r_arrow}2q37, 1::9p21{r_arrow}9qter. This analysis demonstrates the usefulness of FISH in characterizing complex chromosome rearrangements otherwise difficult to correctly interpret using classical cytogenetics alone.

  18. Incidence and prevalence of major central nervous system involvement in systemic lupus erythematosus: a 3-year prospective study of 370 patients.

    Directory of Open Access Journals (Sweden)

    Eleni I Kampylafka

    Full Text Available BACKGROUND: The incidence and prevalence of CNS involvement in SLE remains unclear owing to conflicting results in the published studies. The aim of the study was to evaluate the incidence and prevalence of major definite CNS events in SLE patients. METHODS: 370 SLE patients with no previous history of CNS involvement were prospectively evaluated in a tertiary hospital referral center for 3 years. Major CNS manifestations were codified according to ACR definitions, including chorea, aseptic meningitis, psychosis, seizures, myelopathy, demyelinating syndrome, acute confusional state and strokes. Minor CNS events were excluded. ECLAM and SLEDAI-SELENA Modification scores were used to evaluate disease activity and SLICC/ACR Damage Index was used to assess accumulated damage. RESULTS: 16/370 (4.3% patients presented with a total of 23 major CNS events. These included seizures (35%, strokes (26%, myelopathy (22%, optic neuritis (8.7%, aseptic meningitis (4.3% and acute psychosis (4.3%. Incidence was 7.8/100 person years. Among hospitalizations for SLE, 13% were due to CNS manifestations. Epileptic seizures were associated with high disease activity, while myelopathy correlated with lower disease activity and NMO-IgG antibodies (P≤0.05. Stroke incidence correlated with APS coexistence (P = 0.06. Overall, CNS involvement correlated with high ECLAM and SLEDAI scores (P<0.001. CONCLUSIONS: Clinically severe CNS involvement is rare in SLE patients, accounting for 7.8/100 person years. CNS involvement correlates with high disease activity and coexistence of specific features that define the respective CNS syndromes.

  19. Immuno-reactive somatostatin in the cerebro-spinal fluid. Immunreaktives Somatostatin im Liquor cerebrospinalis

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    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.

  20. THE STUDY OF PREVALENCE AND CLINICAL PROFILE OF VALVULAR HEART DISEASES IN A TEACHING HOSPITAL

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    Radha Krishnan

    2015-04-01

    Full Text Available Valvular heart disease is still a common causes of mortality and morbidity in India and rheumatic heart disease is still far more frequent. AIMS AND OBJECTIVES: To study the prevalence and clinical profile of rheumatic and non - rheumatic valvular heart dise ase in patients attending to Government General Hospital, Kakinada. MATERIALS AND METHODS: 100 Adult patients with valvular abnormalities attending to the Medicine and Cardiology Units of Government General Hospital, Kakinada from Nov 2011 - May 2013 were studied. C linical history including various symptoms, past history of rheumatic fever, followed by systemic examination was done. A detailed cardiovascular examination with relevant investigations and evaluation was done. OBSERVATIONS AND RESULTS: The most common cause of acquired valvular heart disease is Rheumatic Heart Disease. Mitral valve involvement is the most common valve involvement with Mitral regurgitation as the most common valvular lesion. Mitral stenosis is the most common valvular lesion amon g rheumatic valvular heart disease. The most common complaint is breathlessness and the most common complication is Congestive heart failure. Multi valvular lesion is the most common valve involvement in patients presenting with congestive heart failure an d infective endocarditis. Patients having atrial fibrillation are noted to have mitral stenosis more commonly. Mitral stenosis is the valve abnormality commonly noted in patients presenting with haemoptysis, respiratory tract infection and chorea. Left sid ed hemiplegia is common in patients with acquired valvular heart disease. CONCLUSIONS: Though the incidencen of rheumatic valvular disease is decreased in modern era, still continuing in our country. The analysis of the present study gives us insight into the various types of presentation of acquired valvular heart disease and to increase awareness besides early detection of valvular diseases clinically. It also helps in planning of

  1. Clinical assessment and echocardiography follow-up results of the children with acute rheumatic fever

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    Ahmet Basturk

    2016-04-01

    Full Text Available Acute rheumatic fever (ARF is an inflammatory collagenous tissue disease which shows its cardinal signs in joints, heart, skin and nervous system while affecting whole connective tissue system more or less. This study was conducted in order to investigate the clinical pattern and severity of ARF, echocardiographic findings and the course of the patients with heart valve involvement by studying the clinical and laboratory aspects of the patients diagnosed with ARF according to updated Jones criteria. The study included 214 patients diagnosed with ARF for the first time between January 2005 and May 2008. All patients were scanned with doppler echocardiography (ECHO between certain intervals. Severity of carditis was grouped into 3 groups of mild, moderate and severe. The frequency of carditis was 57.9%, arthritis was 73.4%, chorea was 11.7% and erythema marginatum was 0.9% but no subcutaneous nodules. Recovery was observed in 22% of the cases of isolated aortic insufficiency (AI, 50% of the cases with isolated mitral insufficiency (MI and 80% of the cases with mitral and aortic insufficiencies together (MI+AI. Recovery in isolated MI was significantly much more than recovery in isolated AI. However, recovery in AI was significantly much more than in MI in cases of mitral and aortic insufficiencies together. In conclusion, ARF is a cause of acquired and preventable heart disease and it can be reversed through right diagnosis and appropriate treatment. Isolated mitral insufficiency, isolated aortic insufficiency and both mitral and aortic insufficiency are observed during a valvular disease. Remission among valvular diseases are most commonly in those with mitral insufficiency and remissions in both mitral and aortic insufficiency occur most commonly in aortic ones. Regular prophylaxis is the key element for long term prevention of patients with ARF.

  2. Neuropsychiatric involvement in systemic lupus erythematosus: current therapeutic approach.

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    Sanna, Giovanni; Bertolaccini, Maria Laura; Khamashta, Munther A

    2008-01-01

    The involvement of the central nervous system (CNS) is one of the major causes of morbidity and mortality in systemic lupus erythematosus (SLE) patients and the less understood aspect of the disease. Its recognition and treatment continue to represent a major diagnostic and therapeutic challenge. Due to the lack of controlled randomized trials, current therapeutic approach is still empirical and based on clinical experience. The therapeutic choice depends on accurate diagnosis, identification of underlying pathogenic mechanism, severity of the presenting neuropsychiatric symptoms, and on prompt identification and management of contributing causes of CNS disease. Mild neuropsychiatric manifestations may need symptomatic treatment only. In more severe CNS disease it is important to distinguish between thrombotic and non-thrombotic mechanisms. Focal CNS manifestations, particularly TIA and stroke, are associated with the presence of antiphospholipid antibodies (aPL). Anticoagulation is warranted in patients with thrombotic disease, particularly in those with the antiphospholipid (Hughes) syndrome (APS). Other CNS manifestations, such as demyelinating syndrome, transverse myelitis, chorea, seizures, migraine and/or cognitive dysfunction, when associated with persistent positivity for aPL, may also benefit from anticoagulation in selected patients. Severe diffuse CNS manifestations, such as acute confusional state, generalised seizures, mood disorders and psychosis, generally require corticosteroids in the first instance. Pulse intravenous cyclophosphamide therapy may help when more severe manifestations are refractory to corticosteroids and other immunosuppressive agents, generally when response is not seen in 3-5 days. Plasmapheresis may also be added in severe cases of symptoms refractory to conventional treatment. Intravenous immunoglobulins, mycophenolate mofetil, rituximab, intratecal methotrexate and dexametasone deserve further studies to confirm their

  3. Is obsessive-compulsive disorder an autoimmune disease?

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    Arnold, P D; Richter, M A

    2001-11-13

    OBSESSIVE-COMPULSIVE DISORDER (OCD) IS A COMMON and debilitating neuropsychiatric disorder. Although it is widely believed to have a genetic basis, no specific genetic factors have been conclusively identified as yet, leading researchers to look for environmental risk factors that may interact with an underlying genetic susceptibility in affected individuals. Recently, there has been increasing interest in a possible link between streptococcal infections and the development of OCD and tic disorders in children. It has been suggested that OCD in some susceptible individuals may be caused by an autoimmune response to streptococcal infections, that is, a similar biological mechanism to that associated with Sydenham's chorea. The term "pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections" (PANDAS) has been used to describe a subset of children with abrupt onset or exacerbations of OCD or tics, or both, following streptococcal infections. Affected children have relatively early symptom onset, characteristic comorbid symptoms and subtle neurological dysfunction. Neuroimaging studies reveal increased basal ganglia volumes, and the proposed cause involves the cross-reaction of streptococcal antibodies with basal ganglia tissue. Vulnerability to developing PANDAS probably involves genetic factors, and elevated levels of D8/17 antibodies may represent a marker of susceptibility to PANDAS. Prophylactic antibiotic treatments have thus far not been shown to be helpful in preventing symptom exacerbations. Intravenous immunoglobulin therapy may be an effective treatment in selected individuals. Further understanding of the role of streptococcal infections in childhood-onset OCD will be important in determining alternative and effective strategies for treatment, early identification and prevention of this common and debilitating psychiatric disorder.

  4. Diagnostic criteria of acute rheumatic fever.

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    Burke, Rebecca J; Chang, Christopher

    2014-01-01

    Acute rheumatic fever is an inflammatory sequela of Group A Streptococcal pharyngitis that affects multiple organ systems. The incidence of acute rheumatic fever has been declining even before the use of antibiotics became widespread, however the disease remains a significant cause of morbidity and mortality in children, particularly in developing countries and has been estimated to affect 19 per 100,000 children worldwide. Acute rheumatic fever is a clinical diagnosis, and therefore subject to the judgment of the clinician. Because of the variable presentation, the Jones criteria were first developed in 1944 to aid clinicians in the diagnosis of acute rheumatic fever. The Jones criteria have been modified throughout the years, most recently in 1992 to aid clinicians in the diagnosis of initial attacks of acute rheumatic fever and to minimize overdiagnosis of the disease. Diagnosis of acute rheumatic fever is based on the presence of documented preceding Group A Streptococcal infection, in addition to the presence of two major manifestations or one major and two minor manifestations of the Jones criteria. Without documentation of antecedent Group A Streptococcal infection, the diagnosis is much less likely except in a few rare scenarios. Carditis, polyarthritis and Sydenham's chorea are the most common major manifestations of acute rheumatic fever. However, despite the predominance of these major manifestations of acute rheumatic fever, there can be significant overlap with other disorders such as Lyme disease, serum sickness, drug reactions, and post-Streptococcal reactive arthritis. This overlap between disease processes has led to continued investigation of the pathophysiology as well as development of new biomarkers and laboratory studies to aid in the diagnosis of acute rheumatic fever and distinction from other disease processes.

  5. Animal models to investigate the pathogenesis of rheumatic heart disease

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    Catherine M Rush

    2014-11-01

    Full Text Available Rheumatic fever (RF and rheumatic heart disease (RHD are sequelae of group A streptococcal (GAS infection. Although an autoimmune process has long been considered to be responsible for the initiation of RF/RHD, it is only in the last few decades that the mechanisms involved in the pathogenesis of the inflammatory condition have been unravelled partly due to experimentation on animal models.RF/RHD is a uniquely human condition and modelling this disease in animals is challenging. Antibody and T cell responses to recombinant GAS M protein (rM and the subsequent interactions with cardiac tissue have been predominantly investigated using a rat autoimmune valvulitis model. In Lewis rats immunized with rM, the development of hallmark histological features akin to RF/RHD, both in the myocardial and in valvular tissue have been reported, with the generation of heart tissue cross reactive antibodies and T cells. However, studies of cardiac function are more challenging in such a model. Recently a Lewis rat model of Sydenham’s chorea (SC and related neuropsychiatric disorders has also been described. Rodent models are very useful for assessing disease mechanisms due to the availability of reagents to precisely determine sequential events following infection with GAS or post-challenge with specific proteins and or carbohydrate preparations from GAS. However, studies of cardiac function are more problematic in such models. In this review an historical overview of animal models previously used and those that are currently available will be discussed in terms of their usefulness in modelling different aspects of the disease process. Ultimately, cardiologists, microbiologists, immunologists and physiologists may have to resort to diverse models to investigate different aspects of RF/RHD.

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

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    Alkan, Alpay E-mail: aalkan@inonu.edu.tr; Kutlu, Ramazan; Kocak, Gulendam; Sigirci, Ahmet; Emul, Murat; Dogan, Selda; Aslan, Mehmet; Sarac, Kaya; Yakinci, Cengiz

    2004-03-01

    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.

  7. The role of viral agents in aetiopathogenesis of acute rheumatic fever.

    Science.gov (United States)

    Olgunturk, Rana; Okur, Ilyas; Cirak, Meltem Y; Oguz, Ayse Deniz; Akalin, Nursel; Turet, Sevgi; Tunaoglu, Sedef

    2011-01-01

    The reason why abnormal immune response exists in acute rheumatic fever is not exactly explained. The influence of co-pathogens like certain viruses were mentioned regarding the initiation of the immunological reaction in acute rheumatic fever patients by several authors since 1970. This study was designed to find the role or effect of some viral infections in the development of rheumatic fever. In this study, 47 cases with acute rheumatic fever (acute rheumatic arthritis, acute rheumatic carditis, and chorea), 20 cases with chronic rheumatic fever, 20 cases with streptococcal pharyngitis, and 20 healthy age- and gender-matched control cases were involved. Serological and molecular tests were made including hepatitis B virus, hepatitis C virus, rubella virus, herpes simplex virus (HSV group 1), and Epstein-Barr virus (EBV). HBsAg, rubella IgM and EBV IgM positivity were not seen in any of patients with rheumatic fever. Although antiHBs seropositivity was higher in the control group, it was not statistically significant (p > 0.05). There was no difference in rubella IgG, HSV IgM seropositivity, either (p > 0.05). EBV DNA was searched by the polymerase chain reaction technique; due to the latent nature of the virus, no significant difference was found between the control group and the other groups (p > 0.05). In this study, no positive correlation could be found to support the synergism theories regarding the streptoccocus infection and viral infections in the development of acute rheumatic fever. Only EBV DNA positivity was found in all acute rheumatic fever cases but not in the control group may lead to further studies with larger series of patients.

  8. Rheumatic fever & rheumatic heart disease: the last 50 years.

    Science.gov (United States)

    Kumar, R Krishna; Tandon, R

    2013-04-01

    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.

  9. Profile of pridopidine and its potential in the treatment of Huntington disease: the evidence to date.

    Science.gov (United States)

    Squitieri, Ferdinando; de Yebenes, Justo Garcia

    2015-01-01

    Huntington disease (HD) is a chronic, genetic, neurodegenerative disease for which there is no cure. The main symptoms of HD are abnormal involuntary movements (chorea and dystonia), impaired voluntary movements (ie, incoordination and gait balance), progressive cognitive decline, and psychiatric disturbances. HD is caused by a CAG-repeat expanded mutation in the HTT gene, which encodes the huntingtin protein. The inherited mutation results in the production of an elongated polyQ mutant huntingtin protein (mHtt). The cellular functions of the Htt protein are not yet fully understood, but the functions of its mutant variant are thought to include alteration of gene transcription and energy production, and dysregulation of neurotransmitter metabolism, receptors, and growth factors. The phenylpiperidines pridopidine (4-[3-methanesulfonyl-phenyl]-1-propyl-piperidine; formerly known as ACR16) and OSU6162 ([S]-[-]-3-[3-methane [sulfonyl-phenyl]-1-propyl-piperidine) are members of a new class of pharmacologic agents known as "dopamine stabilizers". Recent clinical trials have highlighted the potential of pridopidine for symptomatic treatment of patients with HD. More recently, the analysis of HD models (ie, in vitro and in mice) highlighted previously unknown effects of pridopidine (increase in brain-derived neurotrophic factor, reduction in mHtt levels, and σ-1 receptor binding and modulation). These additional functions of pridopidine suggest it might be a neuroprotective and disease-modifying drug. Data from ongoing clinical trials of pridopidine will help define its place in the treatment of HD. This commentary examines the available preclinical and clinical evidence regarding the use of pridopidine in HD.

  10. 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.

  11. Profile of pridopidine and its potential in the treatment of Huntington disease: the evidence to date

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    Squitieri F

    2015-10-01

    Full Text Available Ferdinando Squitieri,1 Justo Garcia de Yebenes2 1IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo and Mendel Institute of Human Genetics, Rome, Italy; 2Fundación para Investigaciones Neurológicas, Madrid, Spain Abstract: Huntington disease (HD is a chronic, genetic, neurodegenerative disease for which there is no cure. The main symptoms of HD are abnormal involuntary movements (chorea and dystonia, impaired voluntary movements (ie, incoordination and gait balance, progressive cognitive decline, and psychiatric disturbances. HD is caused by a CAG-repeat expanded mutation in the HTT gene, which encodes the huntingtin protein. The inherited mutation results in the production of an elongated polyQ mutant huntingtin protein (mHtt. The cellular functions of the Htt protein are not yet fully understood, but the functions of its mutant variant are thought to include alteration of gene transcription and energy production, and dysregulation of neurotransmitter metabolism, receptors, and growth factors. The phenylpiperidines pridopidine (4-[3-methanesulfonyl-phenyl]-1-propyl-piperidine; formerly known as ACR16 and OSU6162 ([S]-[-]-3-[3-methane [sulfonyl-phenyl]-1-propyl-piperidine are members of a new class of pharmacologic agents known as “dopamine stabilizers”. Recent clinical trials have highlighted the potential of pridopidine for symptomatic treatment of patients with HD. More recently, the analysis of HD models (ie, in vitro and in mice highlighted previously unknown effects of pridopidine (increase in brain-derived neurotrophic factor, reduction in mHtt levels, and σ-1 receptor binding and modulation. These additional functions of pridopidine suggest it might be a neuroprotective and disease-modifying drug. Data from ongoing clinical trials of pridopidine will help define its place in the treatment of HD. This commentary examines the available preclinical and clinical evidence regarding the use of pridopidine in HD. Keywords

  12. Single-photon-emission-computed-tomography (SPECT) in basal ganglia disorders; Single-Photon-Emissions-Computer-Tomographie (SPECT) bei Erkrankungen der Basalganglien

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    Tatsch, K. [Klinik und Poliklinik fuer Nuklearmedizin, Klinikum Grosshadern, Muenchen Univ. (Germany)

    1997-03-01

    In the past, SPECT investigations of regional cerebral blood flow have played a minor role in the diagnostic work-up of patients with basal ganglia disorders. More recently, however, interest in nuclear medicine procedures has dramatically increased since with the development of selective receptor ligands diagnostic tools have been provided which address the pathology in basal ganglia disorders more specifically than other diagnostic modalities. Evaluations of the pre- and postsynaptic aspects of the dopaminergic system, for example, deliver not only interesting data from the scientific point of view but also for the daily routine work. This paper summarizes some of the experience reported in the literature on SPECT investigations in basal ganglia disorders, such as Parkinson`s disease, parkinsonian syndromes of other etiology, Wilson`s and Huntington`s disease, focal dystonias, and schizophrenia under treatment with neuroleptics. (orig.) [Deutsch] SPECT-Studien mit Perfusionstracern haben aufgrund ihrer limitierten Aussagekraft in der Vergangenheit eine untergeordnete Rolle fuer die Diagnostik von Basalganglienerkrankungen gespielt. Mit der Entwicklung selektiver Radioliganden fuer die in vivo Abbildung von Rezeptorsystemen hat sich die klinische Bedeutung von SPECT-Untersuchungen grundlegend gewandelt. Da Basalganglien eine hohe Dichte an dopaminergen Synapsen aufweisen, kommt insbesondere diesem System diagnostische Bedeutung zu. Analysen der prae- und postsynaptischen Situation an der dopaminergen Synapse sind nicht nur von wissenschaftlichem Interesse, sondern haben mittlerweile auch klinische Relevanz erlangt. Bei verschiedenen Basalganglienerkrankungen, wie Morbus Parkinson, Parkinson Syndromen anderer Aetiologie, Morbus Wilson, Chorea Huntington, Dystonien und Schizophrenie-Patienten unter Neuroleptikatherapie, wird im Schrifttum ueber charakteristische SPECT-Befunde berichtet und deren diagnostische Bedeutung abgeschaetzt. (orig.)

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

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    Yah-Se K Abada

    Full Text Available 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 found a similar emergence of non motor and motor deficits in BACHD rats carrying the human full length mutated HTT (97 CAG-CAA repeats. We evaluated cognitive performance in reversal learning and associative memory tests in different age cohorts of BACHD rats. Male wild type (WT and transgenic (TG rats between 2 and 12 months of age were tested. Learning and strategy shifting were assessed in a cross-maze test. Associative memory was evaluated in different fear conditioning paradigms (context, delay and trace. The possible confound of a fear conditioning phenotype by altered sensitivity to a 'painful' stimulus was assessed in a flinch-jump test. In the cross maze, 6 months old TG rats showed a mild impairment in reversal learning. In the fear conditioning tasks, 4, 6 and 12 months old TG rats showed a marked reduction in contextual fear conditioning. In addition, TG rats showed impaired delay conditioning (9 months and trace fear conditioning (3 months. This phenotype was unlikely to be affected by a change in 'pain' sensitivity as WT and TG rats showed no difference in their threshold response in the flinch-jump test. Our results suggest that BACHD rats have a profound associative memory deficit and, possibly, a deficit in reversal learning as assessed in a cross maze task. The time course for the emergence of these symptoms (i.e., before the occurrence of motor symptoms in this rat model for HD appears similar to the time course in patients. These data suggest that BACHD rats may be a useful model for preclinical drug discovery.

  14. TYPES OF TREMOR IN PATIENTS WITH CEREBROVASCULAR DISEASES AND CARDIOVASCULAR EVENTS

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    Petrov Igor

    2016-03-01

    Full Text Available Introduction: Tremor can occur as a part of the clinical feature of cerebrovascular diseases. Many patients with cerebral stroke have cardiovascular diseases as a comorbidity or complication of stroke; sometimes cardiovascular events can lead to embolic stroke. Aim: To present types of tremor in patients with cerebrovascular diseases and cardiovascular events and diabetes mellitus type 2, clinical characteristics of tremor and investigations used. Material and methods: In our study we included 36 patients, 24 men and 12 women, that were examined and followed for 3 years, from 2012-2015. All patients were subjected to the following investigations: neurological examination, laboratory analysis, computerized tomography of brain, magnetic resonance imaging and electroencephalography. In cardiovascular patients we also performed Doppler sonography of carotid arteries, electrocardiography, cardiac ultrasound. The patients were examined and treated by cardiologists. Results: Of all patients 22% had cerebral infarction, 41% atherosclerosis, 36% multiple lacunar infarctions and 28% diabetes mellitus type 2. Three patients with cerebral infarction had chorea, hemiballismus, dystonia and dystonic tremor, three had postural tremor and two cerebellar intention tremor. Atherosclerotic patients had atherosclerotic action tremor, while diabetic patients predominantly presented with action-type tremor. Electroencephalography showed irritative basic brain activity with slow waves, while carotid arteries stenosis was diagnosed by Doppler sonography. Computerized tomography of the brain and magnetic resonance imaging revealed cerebrovascular diseases in certain areas. Patients with cardiomyopathy, rhythm disorders, high blood pressure, hyperlipidemia was investigated and medically treated by a cardiologist. Conclusion: In cerebrovascular diseases different types of tremor can occur as the result of the damage of the extrapyramidal system.

  15. A Tale of Two Maladies? Pathogenesis of Depression with and without the Huntington's Disease Gene Mutation.

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    Du, Xin; Pang, Terence Y C; Hannan, Anthony J

    2013-01-01

    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 twentieth 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 behaviors 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 generalize 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.

  16. Somatosensory disinhibition in patients with paroxysmal kinesigenic dyskinesia

    Institute of Scientific and Technical Information of China (English)

    WEI Hua; SUN Ying; CHEN Hai; WANG De-quan; LI Li-ping; DING Yan; LIU Ai-hua; LU Chang-feng; WANG Yu-ping

    2012-01-01

    Background Paroxysmal kinesigenic dyskinesia (PKD) is characterized by recurrent brief episodes of chorea and dystonia induced by sudden movement.Whether the central nervous system is hyper- or hypoexcitable in PKD remains undetermined.The aim of our study was to compare the somatosensory evoked potential (SEP) recovery cycle,a marker of somatosensory system excitability,in PKD patients and controls.Methods Twenty-four PKD patients (mean age of (20.0±5.3) years; 21 males,3 females) and 18 control age-matched subjects (mean age of (22.0±5.0) years; 17 males,1 female) were studied.The stimuli were delivered to the median nerve in the affected dominant arm in patients and in the dominant arm in controls.The change in SEP amplitude was measured after paired electrical stimulation at interstimulus intervals (ISIs) of 5,20,and 40 ms.The SEPs evoked by S2 (test stimulus) were calculated by subtracting the response to S1 (the conditioning stimulus) from the response to a pair of stimuli (S1 + S2),and their amplitudes were compared with those of the control response (S1) at each ISI.Analysis of variance (ANOVA) or equivalent was used for non-parametric data.Results In patients,the P27 amplitude after the single stimulus (S1) was significantly larger than that after the control stimulus.The (S2/S1)x100 ratio for P14 and N30 SEPs did not differ significantly between PKD patients and normal subjects at ISI of 5 ms but were significantly higher in patients at ISIs of 20 and 40 ms (P<0.05).Conclusions Somatosensory system disinhibition takes place in PKD.The finding of reduced suppression of different SEPs,each thought to have a different origin,suggests an abnormality of intracortical and subcortical inhibitory circuits.

  17. 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.

  18. Fahr’s disease: a case series

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    Osama Shukir Muhammed Amin

    2013-08-01

    Full Text Available Fahr’s disease is a rare idiopathic bilateral and symmetrical calcification of the basal ganglia, thalami, subcortical hemispheric white matter, and deep cerebellar nuclei that usually presents between the 4nd and 6th decade of life with a variable combination of involuntary movements, Parkinsonism, presenile subcortical dementia, seizures, and ataxia. This longitudinal observational case series was conducted at the neurology outpatients’ department of Sulaimaniya general teaching hospital, Iraq. Three patients were diagnosed with Fahr’s disease. Their chief presenting complaint and other coexistent clinical features were noted and followed-up for at least one year. The ages of those consecutive patients were 25, 34, and 21 years, respectively. Two were females and the other patient was a male. The chief presenting complaint among the 3 patients was heterogeneous; cognitive impairment, seizures, and chorea, respectively. At the time of diagnosis, Parkinsonism and cognitive decline were present in all patients. The 3 patients never developed dystonia, dyskinesia, or athetosis and one patient only had mild cerebellar ataxia. Seizures were the presenting feature in one patient and they never developed in the other 2 patients. All patients had a variable degree of intracerebral calcification. Fahr’s disease has heterogeneous phenotypes and the brain radiological findings do not predict the clinical presentation and course. Although Parkinsonism was not the presenting feature, it was found in all patients at the time of diagnosis. Involuntary movements and cerebellar dysfunction were uncommon and the cognitive impairment was of the frontal lobe subcortical dysfunction. [Cukurova Med J 2013; 38(4.000: 823-831

  19. 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.

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

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    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

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

    Science.gov (United States)

    Victorson, David; Carlozzi, Noelle E.; Frank, Samuel; Beaumont, Jennifer L.; Cheng, Wendy; Gorin, Brian; Duh, Mei Sheng; Samuelson, David; Tulsky, David; Gutierrez, Sandra; Nowinski, Cindy J.; Mueller, Allison; Shen, Vivienne; Sung, Victor

    2014-01-01

    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™. PMID:24757585

  2. CLINICAL PROFILE OF RHEUMATIC FEVER AND RHEUMATIC HEART DISEASE IN CHILDREN UNDER 15 YEARS AGE GROUP AND ITS CORRELATION WITH ECHOCARDIOGRAPHY

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    Ramu

    2015-02-01

    Full Text Available Context ( Back ground Acute Rheumatic fever and Rheumatic heart disease are the most common acquired childhood heart disease in India. It is well established that 2 D Echo cardiography is more sensitive in picking up minor degrees of valvular regurgitation than clinical examination . AIMS & OBJECTIVES: To study the clinical profile of “Rheumatic Fever and Rheumatic heart disease“ & correlate it with Echocardiographic fin dings in Children under 15 years age group presenting to a tertiary care hospital. MATERIALS AND METHODS OF STUDY: Thirty six cases of Acute Rheumatic fever, which includes eight cases of first attack and twenty eight cases of reactivation of Rheumatic fev er were studied over a period of two years in paediatric medical wards, King George Hospital, Visakhapatnam. The revised (1992 modified Jones criteria with the 1988 WHO modification was taken as a criterion to diagnose Acute Rheumatic fever . RESULTS : Peak age of Acute Rheumatic fever and Chronic Rheumatic heart disease is between 5 - 10 years (55.8%. No sex variation has been observed. Fever and joint involvement are the most common clinical manifestations (87.5%each in first attack cases. Active cardi tis (75% the second most common manifestation , followed by arthralgia (25% and sore throat (25% , chorea , chest pain , abdominal pain were infrequent manifestations found to be 12.5% each. None of the cases had Erythema marginatum. CONCLUSION : In the pres ent study the clinical findings were correlated with that of previous studies and Echocardiographic findings were correlated well as far as moderate to severe lesions. Further Echocardiography was proved to be more sensitive in detecting even trivial or mi ld aortic regurgitation and mitral or aortic stenosis.

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

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    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.

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

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    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.

  5. Clinical and genetic study of a juvenile-onset Huntington disease%少年型亨廷顿病临床与基因突变分析

    Institute of Scientific and Technical Information of China (English)

    郝莹; 陈园园; 顾卫红; 王国相; 马惠姿; 李丽林; 王康; 金淼; 段晓慧

    2012-01-01

    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 (1T15) 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 1T15 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 1T15. 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 intergenerational

  6. Molecular Imaging Markers to Track Huntington's Disease Pathology.

    Science.gov (United States)

    Wilson, Heather; De Micco, Rosa; Niccolini, Flavia; Politis, Marios

    2017-01-01

    Huntington's disease (HD) is a progressive, monogenic dominant neurodegenerative disorder caused by repeat expansion mutation in the huntingtin gene. The accumulation of mutant huntingtin protein, forming intranuclear inclusions, subsequently leads to degeneration of medium spiny neurons in the striatum and cortical areas. Genetic testing can identify HD gene carriers before individuals develop overt cognitive, psychiatric, and chorea symptoms. Thus, HD gene carriers can be studied in premanifest stages to understand and track the evolution of HD pathology. While advances have been made, the precise pathophysiological mechanisms underlying HD are unclear. Magnetic resonance imaging (MRI) and positron emission tomography (PET) have been employed to understand HD pathology in presymptomatic and symptomatic disease stages. PET imaging uses radioactive tracers to detect specific changes, at a molecular level, which could be used as markers of HD progression and to monitor response to therapeutic treatments for HD gene expansion carriers (HDGECs). This review focuses on available PET techniques, employed in cross-sectional and longitudinal human studies, as biomarkers for HD, and highlights future potential PET targets. PET studies have assessed changes in postsynaptic dopaminergic receptors, brain metabolism, microglial activation, and recently phosphodiesterase 10A (PDE10A) as markers to track HD progression. Alterations in PDE10A expression are the earliest biochemical change identified in HD gene carriers up to 43 years before predicted symptomatic onset. Thus, PDE10A expression could be a promising marker to track HD progression from early premanifest disease stages. Other PET targets which have been less well investigated as biomarkers include cannabinoid, adenosine, and GABA receptors. Future longitudinal studies are required to fully validate these PET biomarkers for use to track disease progression from far-onset premanifest to manifest HD stages. PET imaging

  7. Neurological involvement of 15 patients of acquired immunodeficiency syndrome%获得性免疫缺陷综合征神经系统损害15例分析

    Institute of Scientific and Technical Information of China (English)

    郝红琳; 刘秀琴; 崔丽英; 徐雁; 李力波; 魏妍平; 陈琳; 彭斌

    2009-01-01

    目的 了解获得性免疫缺陷综合征(艾滋病)患者神经系统受累的临床特点.方法 回顾性分析2002年2月至2008年2月于我院住院的,伴有神经系统受累的艾滋病患者15例,其中8例因神经系统症状而首诊于神经科.结果 15例患者中人类免疫缺陷病毒(HIV)脑病者4例,其中1例表现为舞蹈症,1例HIV脑病合并HIV相关肌病;进行性多灶性白质脑病1例;进行性多灶性白质脑病合并弓形体脑病1例;HIV相关肌病1例;多脑神经损伤合并脊髓病1例;周围神经病1例;药物相关的神经肌肉病1例;脑膜脑炎4例;腑脓肿1例.结论 艾滋病累及神经系统的部位及表现形式多样,在临床工作中应提高警惕,注意筛查.%Objective To explore the clinical features of nervous system involvement of acquired immunodeficiency syndrome (AIDS).Methods A retrospective clinical analysis of 15 admitted AIDS patients with neurological involvement in our hospital from February 2002 to February 2008.Eight of them visited department of neurology for the first time.Results There were 4 cases of human immunodeficiency virus (HIV) encephalopathy, 1 of them appearanced as general chorea, 1 HIV-associated encephalopathy accompanied with myopathy; 1 progressive multifocal leukoeneephalopathy (PML); 1 PML accompanied with toxoplasmosis; 1 HlV-associated myopathy; 1 multicranial nerve injury companied with myelopathy; 1 peripheral neuropathy; 1 drug-associated neuromuscular disease; 4 meningoencephalitis and 1 brain abscess cases.Conclusion The manifestations and AIDS neurological involvement are varied.A close attention should be paid to screening.

  8. 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

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

    Science.gov (United States)

    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.

  10. Molecular Imaging Markers to Track Huntington’s Disease Pathology

    Science.gov (United States)

    Wilson, Heather; De Micco, Rosa; Niccolini, Flavia; Politis, Marios

    2017-01-01

    Huntington’s disease (HD) is a progressive, monogenic dominant neurodegenerative disorder caused by repeat expansion mutation in the huntingtin gene. The accumulation of mutant huntingtin protein, forming intranuclear inclusions, subsequently leads to degeneration of medium spiny neurons in the striatum and cortical areas. Genetic testing can identify HD gene carriers before individuals develop overt cognitive, psychiatric, and chorea symptoms. Thus, HD gene carriers can be studied in premanifest stages to understand and track the evolution of HD pathology. While advances have been made, the precise pathophysiological mechanisms underlying HD are unclear. Magnetic resonance imaging (MRI) and positron emission tomography (PET) have been employed to understand HD pathology in presymptomatic and symptomatic disease stages. PET imaging uses radioactive tracers to detect specific changes, at a molecular level, which could be used as markers of HD progression and to monitor response to therapeutic treatments for HD gene expansion carriers (HDGECs). This review focuses on available PET techniques, employed in cross-sectional and longitudinal human studies, as biomarkers for HD, and highlights future potential PET targets. PET studies have assessed changes in postsynaptic dopaminergic receptors, brain metabolism, microglial activation, and recently phosphodiesterase 10A (PDE10A) as markers to track HD progression. Alterations in PDE10A expression are the earliest biochemical change identified in HD gene carriers up to 43 years before predicted symptomatic onset. Thus, PDE10A expression could be a promising marker to track HD progression from early premanifest disease stages. Other PET targets which have been less well investigated as biomarkers include cannabinoid, adenosine, and GABA receptors. Future longitudinal studies are required to fully validate these PET biomarkers for use to track disease progression from far-onset premanifest to manifest HD stages. PET

  11. Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases.

    Science.gov (United States)

    Hardie, R J; Pullon, H W; Harding, A E; Owen, J S; Pires, M; Daniels, G L; Imai, Y; Misra, V P; King, R H; Jacobs, J M

    1991-02-01

    Nineteen cases are described, including 12 cases from three different families and 7 nonfamilial cases, in which multisystem neurological disease was associated with acanthocytosis in peripheral blood and normal plasma lipoproteins. Mild acanthocytosis can easily be overlooked, and scanning electron microscopy may be helpful. Some neurologically asymptomatic relatives with significant acanthocytosis were identified during family screening, including some who were clinically affected. The mean age of onset was 32 (range 8-62) yrs and the clinical course was usually progressive but there was marked phenotypic variation. Cognitive impairment, psychiatric features and organic personality change occurred in over half the cases, and more than one-third had seizures. Orofaciolingual involuntary movements and pseudobulbar disturbance commonly caused dysphagia and dysarthria that was sometimes severe, but biting of the lips or tongue was rarely seen. Chorea was seen in almost all symptomatic cases but dystonia, tics, involuntary vocalizations and akinetic-rigid features also occurred. Two cases had no movement disorder at all. Computerized tomography often demonstrated cerebral atrophy. Caudate atrophy was seen less commonly, and nonspecific focal and symmetric signal abnormalities from the caudate or lentiform nuclei were seen by magnetic resonance imaging in 3 out of 4 cases. Depression or absence of tendon reflexes was noted in 13 cases and neurophysiological abnormalities often indicated an axonal neuropathy. Sural nerve biopsies from 3 cases showed evidence of a chronic axonal neuropathy with prominent regenerative activity, predominantly affecting the large diameter myelinated fibres. Serum creatine kinase activity was increased in 11 cases but without clinical evidence of a myopathy. Postmortem neuropathological examination in 1 case revealed extensive neuronal loss and gliosis affecting the corpus striatum, pallidum, and the substantia nigra, especially the pars

  12. 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

    Directory of Open Access Journals (Sweden)

    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.

  13. Editing for an AMPA receptor subunit RNA in prefrontal cortex and striatum in Alzheimer's disease, Huntington's disease and schizophrenia

    Science.gov (United States)

    Akbarian, S.; Smith, M. A.; Jones, E. G.; Bloom, F. E. (Principal Investigator)

    1995-01-01

    Animal studies and cell culture experiments demonstrated that posttranscriptional editing of the transcript of the GluR-2 gene, resulting in substitution of an arginine for glutamine in the second transmembrane region (TM II) of the expressed protein, is associated with a reduction in Ca2+ permeability of the receptor channel. Thus, disturbances in GluR-2 RNA editing with alteration of intracellular Ca2+ homeostasis could lead to neuronal dysfunction and even neuronal degeneration. The present study determined the proportions of edited and unedited GluR-2 RNA in the prefrontal cortex of brains from patients with Alzheimer's disease, in the striatum of brains from patients with Huntington's disease, and in the same areas of brains from age-matched schizophrenics and controls, by using reverse transcriptase-polymerase chain reaction, restriction endonuclease digestion, gel electrophoresis and scintillation radiometry. In the prefrontal cortex of controls, 99.9% were edited; in the prefrontal cortex both of schizophrenics and of Alzheimer's patients approximately 1.0% of all GluR-2 RNA molecules were unedited and 99% were edited. In the striatum of controls and of schizophrenics, approximately 0.5% of GluR-2 RNA molecules were unedited and 99.5% were edited; in the striatum of Huntington's patients nearly 5.0% of GluR-2 RNA was unedited. In the prefrontal white matter of controls, approximately 7.0% of GluR-2 RNA was unedited. In the normal human prefrontal cortex and striatum, the large majority of GluR-2 RNA molecules contains a CGG codon for arginine in the TMII coding region; this implies that the corresponding AMPA receptors have a low Ca2+ permeability, as previously demonstrated for the rat brain. The process of GluR-2 RNA editing is compromised in a region-specific manner in schizophrenia, in Alzheimer's disease and Huntington's Chorea although in each of these disorders there is still a large excess of edited GluR-2 RNA molecules. Disturbances of GluR-2 RNA

  14. 长时程深部脑刺激外侧苍白球对转基因Huntington病大鼠认知和运动的影响%COGNITIVE AND MOTOR OUTCOME AFTER LONG-TERM GLOBUS PALLIDUS EXTERNA DEEP BRAIN STIMULATION TO TRANSGENIC HUNTINGTON'S DISEASE RAT

    Institute of Scientific and Technical Information of China (English)

    曹春燕; Yasin Temel; Arjan Blokland; Veerle Visser-Vandewalle; Harry W. M. Steinbusch; 陈生弟; 刘振国

    2006-01-01

    我们研究了深部脑刺激(deep brain stimulation,DBS)对转基因Huntington病大鼠认知能力和运动功能的影响.实验结果表明:电极植入手术能改善Huntington病大鼠的认知能力,例如:在选择反应时间实验(choice reaction time task,CRTtask)中,反应准确率增加,偏倚率减少.但对不同基因型大鼠,改善程度相同.在对大鼠外侧苍白球部(GPe)进行长时间深部脑刺激后,反应准确率增加,不同基因型大鼠的增加幅度有所不同.另外,深部脑刺激后,CRT实验中的运动时间和反应时间并没有变化.但是纯合子大鼠的舞蹈样运动明显改善.本研究结果表明深部脑刺激转基因Huntington病大鼠的GPe能明显改善其认知能力和运动功能,这预示着DBS在Huntington病的治疗中将有很大的应用前景.%In this study, we treated transgenic Huntington's disease (tgHD) model rat with deep brain stimulation (DBS) and evaluated the cognitive and motor outcome. The results showed that the surgery of implanting electrode improved cognition, increased correct rate and decreased response bias in choice reaction time (CRT) task, with similar extent on various genotypes. After long-term DBS to globus pallidus externa( GPe), correct rate was enhanced. The enhancement was genotype related. Additionally, the motor time and reaction time in CRT task reflecting the movement initiation kept the same value, but the chorea-form movement of homozygous rats was rectified prominently after the treatment of DBS. The present results demonstrated that the operation of long-term DBS to globus pallidus externa can improve the cognition and motor outcome of tgHD rats, which implied DBS operation might shed light on HD patients in the future.

  15. Positron computed tomography studies of cerebral glucose metabolism in man: theory and application in nuclear medicine.

    Science.gov (United States)

    Phelps, M E

    1981-01-01

    epilepsy at UCLA have resulted in the integration of the LCMRGIc study into the clinical workup of patients with partial epilepsy that are candidates for surgical resection of their epileptogenic focus (effective June 1979). Studies on Huntington's chorea, Parkinson's disease, aphasia, dementia, schizophrenia, and tumors are in early stage of investigation but also are providing exciting new results. Further studies are needed to determine the role of the local function information obtained with the PCT-FDG method in elucidating the basic mechanism and the potential to aid in improving the approach to medical therapy.

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

    Science.gov (United States)

    Macerollo, Antonella; Martino, Davide

    2013-01-01

    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 immunoglobulins has been documented by

  17. Mutations in parkin gene in patients with familial Parkinson's disease%家族性帕金森病患者parkin基因缺失突变的初步研究

    Institute of Scientific and Technical Information of China (English)

    柳四新; 唐北沙; 张智博; 严新翔

    2004-01-01

    AIM:To investigate mutations of exon 3- 7 of parkin gene in Chinese patients with familial Parkinson's disease(PD) and the clinical characteristics of familial PD. METHODS:Peripheral blood samples were collected from six PD patients who were genetically unrelated with others to extract DNA.Mutation analysis of the exon 3- 7 in DNA obtained from peripheral blood was carried out using gradient gel electrophoresis of polymerase chain reaction(PCR) amplification. RESULTS:One patient was found deletion of exon 5 while none was found mutation of exon 3,4,6,and 7.In the patient with exon 5 deletion,PD was inherited as autosomal dominant.Onset of the disease was at 60 years of age.Clinical presentations included tremor, rigidity and hypokinesis,but no chorea. CONCLUSION:Exon 5 deletion has been found in Chinese patients with familial PD.%目的:探讨中国家族性帕金森病( parkinson's disease, PD)患者 parkin基因第 3~ 7外显子是否存在缺失突变,及其与该病临床特点的关系. 方法:采集 6例无血缘相关的家族性 PD患者外周血液,提取 DNA,通过 PCR扩增、琼脂糖凝胶电泳鉴定 parkin基因第 3~ 7外显子缺失突变,并结合临床资料分析. 结果: 6例无血缘相关的家族性 PD患者中,发现 1例有第 5外显子缺失,其遗传模式呈常染色体隐性遗传,起病年龄 60岁,临床表现为震颤、僵直和运动迟缓,但无异动症.第 3, 4, 6, 7外显子未发现缺失突变. 结论:中国家族性 PD患者中存在 parkin基因第 5外显子缺失突变改变.

  18. The analysis of clinical features and misdiagnosis in 5 patients with hepatolenticular degeneration%58例肝豆状核变性所致神经精神障碍的临床特点与误诊分析

    Institute of Scientific and Technical Information of China (English)

    葛许华; 王苗; 邵丽

    2013-01-01

    目的 总结肝豆状核变性(HLD)所致神经精神障碍的临床特点及误诊情况,以提高对本病的认识.方法 回顾分析58例HLD病历资料的神经精神障碍的临床特征和误诊原因.结果 共误诊41例,误诊率达70.69%.从发病到确诊时间3w~8y,平均时间12.5m.多误诊为帕金森病、舞蹈病、精神分裂症、先天痴呆及甲状腺功能亢进症等.结论 HLD患者早期临床表现差异较大,临床症状、体征复杂多样,易造成漏诊和误诊.临床医生应思路开阔、提高对本病的认识,注重病史采集及体格检查,才能减少误诊.%Objective To summarize the clinical characteristics and misdiagnosis of nerve disorder caused by hepatolenticular degeneration(HLD) in order to improve the understanding of the disease.Methods 58 cases of HLD were retrospectively analyzed,including the clinical features and misdiagnosis reasons of nerve disorder.Results 41 cases were misdiagnosed,the rate was 70.69%.The diagnose course was 3 weeks to 8 years,with average time of 12.5 months.It was usually misdiagnosed as Parkinson's disease,chorea,schizophrenia,congenital dementia and hyperthyroidism.Conclusion The difference of early clinical minifestation in HLD patients is bigger,clinical symptoms and signs are complicated.This disease is easy to be misdiagnosed.Clinical doctors should be open-minded,improve understanding,pay attention to history collection and physical examination in order to reduce the misdiagnosis.

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

    Directory of Open Access Journals (Sweden)

    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.

  20. NEUROLOGIC MANIFESTATION OF ORGANIC ACADEMIA

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    Seyyed Hassan TONEKABONI

    2012-03-01

    .Sometimes these episodes can lead to death or severe sequel. Seizure disorder is one of these sequels which is generalized in type with myoclonic seizure in infancy and childhood and later tonic-clonic and atypical absence seizures predominate.Also many of the survivors have acute or progressive extra pyramidal syndrome due to bilateral necrosis of basal ganglia.Chronic progressive formsNon specific Developmental delay, hypotonia, muscular weakness, microcephaly and seizures are rarely the only revealing signs in organic acidemia without any acute presentation.Seizures may become refractory to Anti Epileptic Drugs. In addition many asymptomatic or minimally symptomatic infants have been identified during tandem mass spectrometry newborn screening program. Cognitive deterioration associated with movement disorder such as dystonia or chorea may be caused by any form of organic aciduria.

  1. Estudo prospectivo das complicações da Doença de Kawasaki: análise de 115 casos Prospective study of Kawasaki Disease complications: review of 115 cases

    Directory of Open Access Journals (Sweden)

    Natália Ribeiro de M. Alves

    2011-06-01

    após a fase aguda da doença, eventualmente resultando em sequelas permanentes. Quanto mais precoce forem o diagnóstico e a intervenção terapêutica com a administração de IgG IV, menor será a ocorrência de complicações. Presença de trombocitose, anemia e de atividade inflamatória elevada e por tempo prolongado são fatores de risco para o aparecimento de complicações.OBJECTIVE: To draw attention to complications that might arise in any Kawasaki disease (KD stage, risk factors contributing to the onset of complications and possible transient or permanent disease sequelae. METHODS: Prospective study (clinical cohort conducted between April 2002 and April 2009 of 115 patients with KD admitted to the Pediatric Rheumatology Clinic of the General Hospital of the Federal District, Brazil. All patients were sequentially assessed with clinical and laboratory examinations, Doppler echocardiography, imitanciometry, auditory evoked potentials, psychological evaluation, ophthalmologic examination and, in one patient with chorea, cerebral magnetic resonance angiography. In all patients, a questionnaire assessing the possible presence of cognitive, emotional, behavioral and social disorders was applied. RESULTS: Twenty-five patients (21.7% had coronary aneurisms. Thirty eight patients (33% had a sensorineural auditory loss during the acute and subacute phases of the disease and 13 patients (11.3% maintained the auditory loss six months after the first assessment. Other complications observed were as follows: facial palsy in one patient (0.9%, ataxia in acute and subacute phases in 11 (9.5%; 15 patients had ophthalmologic complications (13.2%, with uveitis in 13, papilledema in one patient, and conjunctival hemorrhage in another patient. One patient experienced chorea (0.9%, with a magnetic resonance angiography showing changes consistent with cerebral ischemia. In one patient, a thoracic aorta aneurism was found (0.9% and another patient had a necrotizing vasculitis

  2. 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

  3. The clinical analysis of Huntington disease:a case study from 12 genetic diagnosis families%12个亨廷顿病家系的临床特点及家系分析

    Institute of Scientific and Technical Information of China (English)

    苏凤娟; 曾译萱; 裴中; 梁秀龄; 李洵桦; Jean-Marc Burgunder

    2016-01-01

    Objective To investigate the clinical manifestation, inherited pattern and the related factor of Hunting⁃ton disease families. Method The clinical data from 12 HD families was collected from 2013-2014. Patients received the genetic test and neurological evaluation including motor, cognitive and problem of behavior. Results There were 12 patients having the IT15 gene dynamic mutations, including 1 Juvenile Huntington disease patient and 3 pre-symptomat⁃ic mutant gene carriers. The average CAG repeats of these patients was between the range of 40 to 60, and the average on⁃set age ranged from 13 to 54 year-old. Positive family history and genetic anticipation could be observed. Patients pre⁃sented with different clinical manifestations at the early stage while had typical chorea movements, declined cognitive and psychiatric symptoms at the late stage of the illness. Conclusions There are typical triad symptoms in the late stage but not in the early stage nor pre-symptom stage illness. Clinical manifestation and the neuroimaging are both of great ref⁃erence value, and the genetic test is essential for final diagnosis.%目的:探讨亨廷顿病的临床症状、突变基因以及家系中遗传规律等。方法收集2013-2014年至中山大学附属第一医院就诊的亨廷顿病患者,绘制完整的家谱图并记录详细的临床资料。对每位患者予IT15基因诊断。对其症状改变,UHDRS评分、行为学进行评估。结果2013年1月至2014年12月共收治12个亨廷顿病家庭,12例先证者中有2例处于症状前状态,1例青少年亨廷顿病患儿。所有确诊患者的IT15突变基因的CAG重复序列大多在40~60之间,已发病患者的起病年龄13~54岁不等。其家系分析中发现,父系遗传有遗传早现现象。12例家系中,发病晚期的患者有较典型的舞蹈症状、智能减退、精神症状的临床表现,早期发病患者临床症状多变,或以情绪与智能损害为首发

  4. 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

  5. Epilepsy as a Rare Neurologic Manifestation of Oculodentodigitalis Dysplasia

    Directory of Open Access Journals (Sweden)

    Mohammad BARZEGAR

    2012-09-01

    Full Text Available How to Cite this Article: Barzegar M, Sayadnasiri M, Tabrizi A. Epilepsy as a Rare Neurologic Manifestation of Oculodentodigitalis Dysplasia. Iran J Child Neurol 2012; 6(3: 39-43.Oculodentodigitalis dysplasia (ODDD is an extremely rare inherited disorderinvolving the development of the face, eyes, teeth and limbs. In addition,some patients develop neurological problems mostly a spastic paraparesisassociated with white matter abnormalities on magnetic resonance imaging.This report describes a patient with epilepsy, a rare neurologic manifestationof this syndrome.ReferencesJudisch GF, Martin-Casals A, Hanson JW, Olin WH.Oculodentodigital dysplasia. Four new reports and aliterature review. Arch Ophthalmol 1979 May;97(5:878-84.Paznekas WA, Boyadjiev SA, Shapiro RE, DanielsO, Wollnik B, Keegan CE, et al. Connexin 43(GJA1 mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003 Feb;72(2:408-18.Parashari UC, Khanduri S, Bhadury S, Qayyum FA.Radiographic diagnosis of a rare case of oculodentodigital dysplasia. SA J Radiology 2011:134-6.van Es RJ, Wittebol-Post D, Beemer FA. Oculodentodigital dysplasia with mandibular retrognathism and absenceof syndactyly:a case report with a novel mutation in the connexin 43 gene. Int J Oral Maxillofac Surg 2007 Sep;36(9:858-60.Aminabadi NA, Ganji AT, Vafaei A, Pourkazemi M,Oskouei SG. Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and asibling. J Clin Pediatr Dent 2009 Summer;33(4:337-41.Loddenkemper T, Grote K, Evers S, Oelerich M, StogbauerF. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol 2002 May;249(5:584-95.Opjordsmoen S, Nyberg-Hansen R. Hereditary spasticparaplegia with neurogenic bladder disturbances and syndactylia. Acta Neurol Scand 1980 Jan;61(1:35-41.Farmer TW, Wingfield MS, Lynch SA, Vogel FS, HuletteC, Katchinoff B, et al. Ataxia, chorea, seizures, and dementia. Pathologic features of a newly

  6. Exploration of Regularities in Point Selection for Acupuncture Treatment of Parkinson Disease%针灸治疗帕金森病选穴规律的探讨

    Institute of Scientific and Technical Information of China (English)

    任泓宇; 王兴兴; 郑禹; 黄泳

    2015-01-01

    Objective To analyze recent 30 years’ regularities in point selection for acupuncture treatment of Parkinson disease and provide reference for its treatment. Methods Parkinson disease, parkinsonism and acupuncture were used as key words. Recent 30 years’ Chinese literature was searched using Wanfang, CNKI, VIP and Chinese biomedical literature database. Selection of main acupoints and scalp acupuncture points, syndrome differentiation-based point selection and meridian tropism of main acupoints were metrologically studied. Results The Du meridian, the large intestine meridian and the gallbladder meridian were mainly selected for acupuncture treatment of Parkinson disease. Taichong(LR3), Baihui(GV20), Hegu(LI4) and Fengchi(GB20) were used as main points. Chorea-tremor control area, motor area and parietotemporal anterior oblique line were often selected as main scalp acupuncture points. Fenglong (ST40), Qihai(CV6), Sanyinjiao(SP6), Yinlingquan(SP9) and Zusanli(ST36) were often used according to syndrome differentiation-based point selection. Conclusion Modern acupuncture doctors select Taichong(LR3), Baihui(GV20), Hegu(LI4) and Fengchi(GB20) as main points, often use scalp acupuncture points and combine points mainly from the Du meridian according to syndrome differentiation in the treatment of Parkinson disease.%目的:对近30年针灸治疗帕金森病的取穴规律进行分析,为帕金森病的针灸治疗提供参考。方法以“帕金森病”、“震颤麻痹”、“针灸”等为关键词,通过万方、中国知网、维普、中国生物医学文献数据库对近30年中文文献进行检索,并进行主穴、头针头穴的选用、辨证选穴、主穴归经等方面的计量学研究。结果针灸治疗帕金森病主要以督脉、大肠经、胆经等经脉为主,以太冲、百会、合谷、风池等穴位为主穴;头针头穴常选用舞蹈震颤控制区、运动区等。辨证取穴常用丰隆、气海、三阴交、

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

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    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.

  8. 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

  9. 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

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    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

  10. The clinical study of patients with spinocerebellar ataxia type 1 in Anhui region%安徽地区遗传性脊髓小脑性共济失调1型患者的临床研究

    Institute of Scientific and Technical Information of China (English)

    赵静; 程楠; 王训; 韩咏竹; 杨任民; 胡纪源

    2012-01-01

    Objective To study the clinical features of the patients with hereditary spinocerebellar ataxia type 1 (SCA1) in Anhui region. Methods The clinical data and the genomic DNA samples of these SCA patients and their family members from Anhui region were collected, their genotypes were analyzed by PCR-denaturing polyacrylamide gel electrophoresis and cloning sequencing, and their clinical features were also analyzed. Results There were 59 patients from Anhui region who were diagnosed as SCA in the study, of which 39 cases came from 15 families and 20 cases were sporadic. 7 SCA1 patients were detected and confirmed by gene diagnosis, who showed symptoms and signs such as cerebellar ataxia, dysarthria, tendon hyperreflexia, Romberg's signs and so on. 4 cases (4/7) had mental retardation and 2 cases (2/7) had peripheral sensory loss. None of them had symptoms and signs such as vision loss chorea and so on. The results of cranial MRI scan of these 7 patients showed cerebellar sulci widened, vermis atrophy, the pool around the brain stem expanded and cerebral cortex atrophy. 2 cases were with abnormal BAEP by evoked potential and 1 case was with neurogenic lesions by EMG. All patients were with normal liver function, blood lipids, serum copper, copper oxidase and ceruloplasmin. Conclusion Except for the common symptoms and signs for all patients with cerebellar ataxia, mental retardation, brain stem and cerebral cortex atrophy are the clinical features for patients with SCA1, which provides the basis for the patients diagnosed with cerebellar ataxia to be screened for SCA1 gene subtype.%目的 了解安徽地区遗传性脊髓小脑性共济失调1型(SCA1)患者的临床特征.方法收集安徽地区SCA患者及其家系成员的临床资料及基因组DNA标本,应用PCR-变性聚丙烯酰胺凝胶电泳结合克隆测序等技术检测其基因型,分析SCA1基因型的临床特征.结果经基因诊断证实,在临床诊断的59例安徽地区SCA患者(15个家系39

  11. 糖尿病性偏侧舞蹈症2例报道并文献复习%Hemichorea Associated with Diabetic Hyperglycemia:A Linical Characteristic Analysis of 2 Cases

    Institute of Scientific and Technical Information of China (English)

    黄勉

    2013-01-01

    目的:探讨糖尿病非酮症性偏身舞蹈症的病因、临床特点、发病机制、影像学特征及治疗。方法:糖尿病非酮症性偏侧舞蹈症患者2例,对其临床特点进行了分析讨论并复习近10年相关文献,总结分析其临床特点、发病机制及影像学表现。结果:2例患者均为老年,急性起病,清醒时出现,睡眠时消失。症状偏身舞蹈动作,既往1例有糖尿病史另1例否认糖尿病史,通过测血糖明确糖尿病诊断。早期CT表现为舞蹈症状对侧的尾状核、壳核和(或)苍白球的高密度影像,并在1~3个月左右减弱或消失;磁共振(MRI)T1像为病灶部位的片状高信号,在持续数月后信号减低,T2则表现为多变信号,边界清晰,无水肿征象。结论:糖尿病性偏侧舞蹈症多见于糖尿病控制不佳的高血糖症患者,病变部位以纹状体为主,其早期头颅CT表现为高密度影,MRI T1像为高信号、T2像为多变信号,影像学改变可能与高血糖导致血液高黏度、低灌注、血脑屏障破坏有关,头颅CT表现要与脑出血相鉴别,要结合磁共振(MRI)及临床表现相鉴别,因此认识这种突发的偏侧舞蹈症状及影像变化有利于糖尿病性偏侧舞蹈症的早期诊断与治疗。%Objective:Discussion of diabetic Nonketotic dance of the etiology, clinical features, pathogenesis, diagnosis, imaging and treatment. Methods:I admitted to hospital of diabetic Nonketotic 2 cases of unilateral Chorea, conducted an analysis of its clinical features discussed and nearly 10 years in review related documentation, summary analysis of its clinical features, pathogenesis, diagnosis and Imaging.Result:2 patients are elderly, acute disease, occurs while awake, sleep disappears. Symptoms are dance movements, past cases have a history of diabetes and the other a case denying the history of diabetes, by measuring blood sugar clear diagnosis of diabetes mellitus. Early symptoms of CT manifestation for

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

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    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.

  13. 苯海索治疗不同亚型不随意运动型脑瘫患儿运动功能的疗效观察

    Institute of Scientific and Technical Information of China (English)

    张峰; 冯珍

    2016-01-01

    the target dose of 4 mg / d, daily dose divided into 2 or 3 times service. Respectively into the group, after treatment (6 months after), the were GMFM, GMFCS, FMFM and WeeFIM assessment, and record the salivation and drug resistance. Results The three groups after treatment in children with GMFM score [group A (35.490±19.327), group B (29.110±11.864), group C (15.540±11.598)] have significant difference (F=4.988, P<0.05), group AB and group C comparison were statistically significant (P<0.05), between the group AB compared with no significant difference. Have statistical difference (F=4.319, P<0.05) of three groups of children with WeeFIM scores [group A (49.000±22.520), group B (38.780±11.914), group C (27.000±12.179)], group A and group B with the score of patients compare with group C had significant difference (P<0.05), and in the groups A and B of children with no significant difference. There was no significant difference in GMFCS and FMFM between the three groups. Three groups of children with salivation were improved, no significant difference. The athetoid-spastic cerebral palsy children can be observed exacerbated with spastic. Conclusion Benzhexol hydrochloride in the treatment of chorea-athetoid and athetosis type of dyskinetic cerebral palsy (CP) is helpful to improve the motor function and the ability to live independently, curative effect is better than that of dystonic cerebral palsy children. There was no significant difference between the three groups in the classification of General motor function and the improvement of the Fine motor function.

  14. Neurologic Manifestations of Childhood Rheumatic Diseases

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    Reza SHIARI

    2013-01-01

    . The American College of Rheumatology1990 criteria for the classification of Churg-Strauss syndrome (allergic granulomatosis and angiitis.Arthritis Rheum. 1990 Aug;33(8:1094-100. 46. Sehgal M, Swanson JW, DeRemee RA, Colby TV.Neurologic manifestations of Churg-Strauss syndrome.Mayo Clin Proc. 1995 Apr;70(4:337-41. 47. Twardowsky AO, Paz JA, Pastorino AC, Jacob CM,Marques-Dias MJ, Silva CA. Chorea in a child with Churg-Strauss syndrome. Acta Reumatol Port. 2010 Jan-Mar;35(1:72-5. 48. Kumar N, Vaish AK. Hemiplegia due to Churg Strauss syndrome in a young boy. J Assoc Physicians India.2011 Mar;59:172-3. 49. Pagnoux C, Seror R, Henegar C, Mahr A, Cohen P,Le Guern V et al. Clinical features and outcomes in 348 patients with polyarteritis nodosa: a systematic retrospective study of patients diagnosed between 1963 and 2005 and entered into the French Vasculitis Study Group Database. Arthritis Rheum. 2010 Feb;62(2:616-26. 50. Valeyrie L, Bachot N, Roujeau JC, Authier J, Gherardi R,Hosseini H. Neurological manifestations of polyarteritis nodosa associated with the antiphospholipid syndrome.Ann Med Interne (Paris. 2003 Nov;154(7:479-82. 51. Cellucci T, Benseler SM. Diagnosing central nervous system vasculitis in children. Curr Opin Pediatr. 2010 Dec;22(6:731-8. 52. Matsell DG, Keene DL, Jimenez C, Humphreys P. Isolated angiitis of the central nervous system in childhood. Can J Neurol Sci. 1990 May;17(2:151-4. 53. Calabrese LH, Furlan AJ, Gragg LA, Ropos TJ. Primary angiitis of the central nervous system: diagnostic criteria and clinical approach. Cleve Clin J Med. 1992 May- Jun;59(3:293-306. 54. Cekinmez EK, Cengiz N, Erol I, Kizilkilic O, Uslu Y. Unusual cause of acute neurologic deficit in childhood: primary central nervous system vasculitis presenting with basilar arterial occlusion. Childs Nerv Syst. 2009 Jan;25(1:133-6. 55. Benseler SM, Silverman E, Aviv RI, Schneider R, Armstrong D, Tyrrell PN. Primary central nervous system vasculitis in children. Arthritis Rheum. 2006