*  Autosomal dominant cerebellar ataxias: a systematic review of...
Autosomal dominant cerebellar ataxias encompass a broad spectrum of clinical f ... Autosomal dominant cerebellar ataxias: a systematic review of clinical features.: ... Type. Published Article. Journal. European journal of neurology Publication Date. Apr 01, 2014 Volume. 21 Issue. 4 Pages. 607- ... Autosomal dominant cerebellar ataxias encompass a broad spectrum of clinical features with high prevalence of non-ataxia ...
  https://www.mysciencework.com/publication/show/autosomal-dominant-cerebellar-ataxias-systematic-review-clinical-features-ca41df43
*  A Study of Resveratrol as Treatment for Friedreich Ataxia - Full Text View - ClinicalTrials.gov
Autosomal recessive cerebellar ataxia type 1 ... A Study of Resveratrol as Treatment for Friedreich Ataxia. The ... Ataxia. Cerebellar Ataxia. Friedreich Ataxia. Dyskinesias. Neurologic Manifestations. Nervous System Diseases. Signs and ... Clinical rating scales of ataxia [ Time Frame: 12 weeks ]. Clinical rating scales of ataxia at 12 weeks will be compared to ... This will include: a) Friedreich Ataxia Rating Scale (FARS) b) International Cooperative Ataxia Rating Scale (ICARS) c) Scale ...
  https://clinicaltrials.gov/ct2/show/NCT01339884?term=Ataxia&rank=7
*  Acute Cerebellar Ataxia | Reston Hospital Center
Learn more about Acute Cerebellar Ataxia at Reston Hospital Center DefinitionCausesRisk ... The ataxia that occurs in children can often can go away in a few months without any treatment. In cases where an underlying ... Acute cerebellar ataxia is more common in young children, but it can occur at any age. Other factors that may increase your ... Acute cerebellar ataxia is a disorder of the nervous system. It is the sudden onset of a disturbance in coordination. The ...
  https://restonhospital.com/hl/?/191914/sp
*  Episodic Ataxia Type 2 - GeneReviews® - NCBI Bookshelf
... is characterized by paroxysmal attacks of ataxia, vertigo, and nausea typically lasting minutes to days in duration. Attacks ... Review Episodic Ataxia Type 1[GeneReviews®. 1993]. Review Episodic Ataxia Type 1. D'Adamo MC. GeneReviews®. 1993 ... Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on ... Spinocerebellar ataxia type 6 (SCA6) is characterized by adult-onset, slowly progressive cerebellar ataxia, dysarthria, and ...
  https://www.ncbi.nlm.nih.gov/books/NBK1501/
*  Spinocerebellar ataxia type-13 - Wikipedia
Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized ... GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 13. ... Unlike many other types of SCA, these are not polyglutamine ... "Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and ... There is no known prevention of spinocerebellar ataxia. Those who are believed to be at risk can have genetic sequencing of ...
  https://en.wikipedia.org/wiki/Spinocerebellar_ataxia_type-13
*  Spinocerebellar ataxia type 1 - Wikipedia
"Spinocerebellar Ataxia Type 1 , The Ataxia Center , The University of Chicago". ataxia.uchicago.edu. University of Chicago ... and other known types of ataxia, calling the syndrome hereditary cerebellar ataxia, though it became known Marie's ataxia. ... Spinocerebellar Ataxia type 1 (SCA1) is a rare autosomal dominant disorder, which, like other spinocerebellar ataxias, is ... each type numbered in order as a new locus was found. In 1993, the gene and a mutation causing spinocerebellar ataxia type 1 ...
  https://en.wikipedia.org/wiki/Spinocerebellar_ataxia_type_1
*  Spinocerebellar ataxia type 6 - Wikipedia
Spinocerebellar ataxia type 6 (SCA6) is a rare, late-onset, autosomal dominant disorder, which, like other types of SCA, is ... This gene has two splice forms, "Q-type" and "P-type", and the polyglutamine coding CAG expansion occurs in the P-type splice ... "Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function". J Biol Chem. 275 (15): 10893-8. doi:10.1074/jbc ... "Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia". Am J Med Genet ...
  https://en.wikipedia.org/wiki/Spinocerebellar_ataxia_type_6
*  Spinal Cord Damage in Spinocerebellar Ataxia Type 1 | SpringerLink
... characterized by progressive cerebellar ataxia and pyramidal signs. Non-motor and... ... Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder caused by a CAG repeat expansion, ... Spinal cord MRI Ataxia Spinocerebellar ataxia type 1 Polyglutamine disorders Biomarker This is a preview of subscription ... Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings ...
  https://link.springer.com/article/10.1007/s12311-017-0854-9?wt_mc=alerts.TOCjournals
*  Autosomal recessive cerebellar ataxia type 1 - Wikipedia
Different types of ataxia: congenital ataxias (developmental disorders) ataxias with metabolic disorders ataxias with a DNA ... ghr.nlm.nih.gov/condition/autosomal-recessive-cerebellar-ataxia-type-1 "Autosomal Recessive Cerebellar Ataxias." Fracis, Palau ... People with this type of ataxia share many characteristic symptoms including: frequent falls due to poor balance imprecise hand ... Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement. Signs ...
  https://en.wikipedia.org/wiki/Autosomal_recessive_cerebellar_ataxia_type_1
*  JCI - Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1
A mouse model of episodic ataxia type-1. Nat Neurosci. 2003;6(4):378-383.. View this article via: PubMed CrossRef Google ... Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6. J Med Genet. 2014;51(7):479-486.. View this ... Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1. Chandrakanth Reddy Edamakanti,1 Jeehaeh Do,2 ... Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disease caused by a polyglutamine expansion in the ...
  https://www.jci.org/articles/view/96765
*  4-Aminopyridine in Episodic Ataxia Type 2 - Full Text View - ClinicalTrials.gov
This study aims to determine whether 4-aminopyridine (4AP) can reduce attacks of ataxia in patients with episodic ataxia type 2 ... 4-Aminopyridine in Episodic Ataxia Type 2 (4AP in EA2). The recruitment status of this study is unknown. The completion date ... Episodic ataxia type 2 (EA2) is a rare familial neurological condition characterized by debilitating episodes of vertigo and ... Strupp M, Kalla R, Dichgans M, Freilinger T, Glasauer S, Brandt T. Treatment of episodic ataxia type 2 with the potassium ...
  https://clinicaltrials.gov/ct2/show/NCT01543750?term=Ataxia&rank=2
*  Search of: 'spinocerebellar ataxia type 3' OR 'Spinocerebellar Ataxias' - List Results - ClinicalTrials.gov
Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3. *Spinocerebellar Ataxia Type 3 ... Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3. *Spinocerebellar Ataxia Type 3 ... Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 (ATRIL). *Spinocerebellar Ataxia Type 2 ... Lithium Treatment for Patients With Spinocerebellar Ataxia Type I. *Spinocerebellar Ataxia Type I ...
  https://clinicaltrials.gov/ct2/results?cond=%22spinocerebellar%20ataxia%20type%203%22%20OR%20%22Spinocerebellar%20Ataxias%22
*  Lithium Treatment for Patients With Spinocerebellar Ataxia Type I - Full Text View - ClinicalTrials.gov
Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 3 Spinocerebellar ataxia type 6 ... Ataxia. Cerebellar Ataxia. Spinocerebellar Ataxias. Spinocerebellar Degenerations. Cerebellar Diseases. Dyskinesias. Neurologic ... Lithium Treatment for Patients With Spinocerebellar Ataxia Type I. The safety and scientific validity of this study is the ... Autosomal recessive cerebellar ataxia type 1 Infantile-onset spinocerebellar ataxia ...
  https://clinicaltrials.gov/ct2/show/NCT00683943?term=Ataxias+and+Cerebellar+or+Spinocerebellar+Degeneration&rank=13
*  Lithium Treatment for Patients With Spinocerebellar Ataxia Type I - Full Text View - ClinicalTrials.gov
... spinocerebellar ataxia type 1 spinocerebellar ataxia type 2 spinocerebellar ataxia type 3 spinocerebellar ataxia type 6 ... Spinocerebellar Ataxias. Spinocerebellar Degenerations. Ataxia. Cerebellar Ataxia. Dyskinesias. Neurologic Manifestations. ... autosomal recessive cerebellar ataxia type 1 infantile-onset spinocerebellar ataxia ... This study will evaluate the side effects and tolerability of the drug lithium in patients with spinocerebellar ataxia type I ( ...
  https://clinicaltrials.gov/ct2/show/NCT00683943?cond=%22spinocerebellar+ataxia+type+2%22+OR+%22Spinocerebellar+Ataxias%22&rank=8
*  Machado-Joseph Disease - Spinocerebellar Ataxia Type 3 Summary Report | CureHunter
Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV ... This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 ... DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). ... Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial ...
  http://www.curehunter.com/public/keywordSummaryD017827-Machado-Joseph-Disease-Spinocerebellar-Ataxia-Type-3.do
*  Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10) - Full Text View - ClinicalTrials.gov
... spinocerebellar ataxia type 1 spinocerebellar ataxia type 2 spinocerebellar ataxia type 3 spinocerebellar ataxia type 6 ... Ataxia. Cerebellar Ataxia. Spinocerebellar Ataxias. Spinocerebellar Degenerations. Dyskinesias. Neurologic Manifestations. ... Genetic and Rare Diseases Information Center resources: Spinocerebellar Ataxia Spinocerebellar Ataxia 10 Hereditary Ataxia ... Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10). The safety and scientific validity of this study ...
  https://clinicaltrials.gov/ct2/show/NCT00004306?term=%22VLDLR-associated+cerebellar+hypoplasia%22+%5BDISEASE%5D+OR+%22Cerebellar+Ataxia%22+%5BDISEASE%5D+OR+NCT00041600+%5BID-NUMBER%5D&rank=15
*  Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3 | SpringerLink
Forty-six patients suffering from autosomal dominant cerebellar ataxia type I (ADCA I) underwent to a genotype-phenotype ... Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3. ... Forty-six patients suffering from autosomal dominant cerebellar ataxia type I (ADCA I) underwent to a genotype-phenotype ... Key words Spinocerebellar ataxia Electrooculography Autosomal dominant cerebellar ataxia Received: 9 September 1998 Received in ...
  https://link.springer.com/article/10.1007%2Fs004150050456
*  Vestibulo-ocular arreflexia in families with spinocerebellar ataxia type 3 (Machado-Joseph disease)
Summary: Episodic ataxia type 2 (EA 2) is a rare neurological disorder of autosomal dominant inheritance resulting from ... Episodic Ataxia Type 2 Strupp, Michael; Zwergal, Andreas; Brandt, Thomas // Neurotherapeutics;Apr2007, Vol. 4 Issue 2, p267 ... MRI Shows a Region-Specific Pattern of Atrophy in Spinocerebellar Ataxia Type 2. Jung, Brian; Choi, Soo; Du, Annie; Cuzzocreo, ... Home » Vestibulo-ocular arreflexia in families with spinocerebellar ataxia type 3 (Machado-Joseph disease) ...
  http://connection.ebscohost.com/c/articles/11352993/vestibulo-ocular-arreflexia-families-spinocerebellar-ataxia-type-3-machado-joseph-disease
*  Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 - Tabular View - ClinicalTrials.gov
Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3. The safety and scientific validity of ... Background: Spinocerebellar ataxia type 3 (SCA-3) is an autosomal dominant adult-onset neurodegenerative disorder for which ... Randomized Clinical Trial to Assess the Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 ... Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse ...
  https://clinicaltrials.gov/ct2/show/record/NCT01096082?cond=%22spinocerebellar+ataxia+type+6%22+OR+%22Spinocerebellar+Ataxias%22
*  Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3 - Tabular View - ClinicalTrials.gov
Spinocerebellar Ataxia Type 3. Intervention ICMJE *Drug: Placebo Powdered placebo in sachets containing each 3g. At the start ... Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3. The safety and scientific ... Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3. ... the literature one does not find a pharmacological treatment that changes the natural history of Spinocerebellar ataxtia type 3 ...
  https://clinicaltrials.gov/ct2/show/record/NCT01096095
*  Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 - Full Text View - ClinicalTrials.gov
... spinocerebellar ataxia type 1 spinocerebellar ataxia type 2 spinocerebellar ataxia type 3 spinocerebellar ataxia type 6 ... Ataxia. Cerebellar Ataxia. Spinocerebellar Ataxias. Spinocerebellar Degenerations. Machado-Joseph Disease. Dyskinesias. ... Spinocerebellar Ataxia Type 3 Machado Joseph Disease Drug: Lithium Carbonate Drug: Placebo Phase 2 Phase 3 ... autosomal recessive cerebellar ataxia type 1 infantile-onset spinocerebellar ataxia ...
  https://clinicaltrials.gov/ct2/show/NCT01096082?term=Ataxia&rank=19
*  Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 - No Study Results Posted -...
Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3. The safety and scientific validity of ...
  https://clinicaltrials.gov/ct2/show/results/NCT01096082
*  Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3 - Full Text View - ClinicalTrials...
... spinocerebellar ataxia type 1 spinocerebellar ataxia type 2 spinocerebellar ataxia type 3 spinocerebellar ataxia type 6 ... Spinocerebellar Ataxias. Spinocerebellar Degenerations. Ataxia. Cerebellar Ataxia. Machado-Joseph Disease. Dyskinesias. ... autosomal recessive cerebellar ataxia type 1 infantile-onset spinocerebellar ataxia ... Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3. This study has been withdrawn ...
  https://clinicaltrials.gov/ct2/show/NCT01096095?cond=%22spinocerebellar+ataxia+type+1%22+OR+%22Spinocerebellar+Ataxia%22&rank=14
*  Functional Annotation of Small Noncoding RNAs Target Genes Provides Evidence for a Deregulated Ubiquitin-Proteasome Pathway in...
Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder caused by the expansion of CAG repeats in the ataxin 1 ( ... spinocerebellar ataxia type 1 (SCA1), and triplet repeat disorders [1, 2]. A critical process in the development SCA1 is the ... H. Y. Zoghbi, "Spinocerebellar ataxias," Neurobiology of Disease, vol. 7, no. 5, pp. 523-527, 2000. View at Publisher · View at ... HeLa and HEK293T cells were obtained from American Type Culture Collection (ATCC, Manassas, VA, USA) and were propagated at 37 ...
  https://www.hindawi.com/journals/jna/2012/672536/