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This article was published in the following journal.
Name: Brain : a journal of neurology
Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by CTA/CTG repeat expansion in the ATXN8/ATXN8OS gene.
Spinocerebellar ataxia 2 (SCA2) is a genetic disease, mainly characterized by ataxia. A number of other neurological symptoms also have been described, such as Parkinsonism, cognitive dysfunction, aut...
Spinocerebellar ataxia type 10 (SCA10) is a hereditary neurodegenerative disorder caused by repeat expansions in the ATXN10 gene. Patients present with cerebellar ataxia frequently accompanied by seiz...
Large expansions of microsatellite DNA cause several neurological diseases. In Spinocerebellar ataxia type 10 (SCA10), the repeat interruptions change disease phenotype; an (ATTCC)n or a (ATCCT)n/(ATC...
The purpose of this research study is to investigate how the brain and motor behavior changes both in individuals with spinocerebellar ataxia and healthy individuals, and to assess whether...
The purpose of this study is verify the safety and efficacy of Human Umbilical Cord Mesenchymal Stem Cells (UC-MSC) therapy for patients with Spinocerebellar Ataxia, and in addition, explo...
The purpose of this study is to compare the efficacy of BHV-4157 versus placebo on ataxia symptoms in subjects with spinocerebellar ataxia (SCA).
The purpose of this study is to examine the differences in cerebral spinal fluid (CSF) and blood of patients with spinocerebellar ataxias and healthy volunteers. The goal of this project i...
Spinocerebellar atrophy is the most common autosomal dominant inherited ataxia. There are over thirty subtypes, which characterize neurologic features differently. They all have obvious su...
A deubiquitinating enzyme of the ATAXINS family. It functions in protein homeostasis, GENETIC TRANSCRIPTION; CYTOSKELETON regulation, and MYOGENESIS. CAG TRINUCLEOTIDE REPEAT EXPANSION in the Ataxin-3 gene coding region is associated with spinocerebellar ataxia-3 (MACHADO-JOSEPH DISEASE).
A component of the STAGA transcription coactivator-HAT complex that functions in Cone Rod Homeobox Protein (CRX)-dependent gene activation. It also stabilizes MICROTUBULES. CAG repeat expansion in the ATXN-7 coding region is associated with the development of SPINOCEREBELLAR ATAXIA 7.
A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME. (Vet Rec 1998 Jul 25;143(41):101-5)
An ataxin that is associated with the survival of cerebellar neurons. Expansion of the ATTCT pentanucleotide in the ATXN10 coding region is associated with SPINOCEREBELLAR ATAXIA 10.
A chromatin-binding factor that represses Notch signaling and associates with RNA. Expansion of the polyglutamine tract by expanded CAG repeats in the ATXN1 gene coding region is associated with SPINOCEREBELLAR ATAXIA 1.