Instrumented Data Exchange for Ataxia Study

2020-02-17 18:20:52 | BioPortfolio


This research study is testing body-worn sensors to measure movement during simple tests of coordination, in order to evaluate the progression and severity of ataxia.

Study Design


Spinocerebellar Ataxia Type 1


University of California-Los Angeles
Los Angeles
United States




University of Chicago

Results (where available)

View Results


Published on BioPortfolio: 2020-02-17T18:20:52-0500

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Medical and Biotech [MESH] Definitions

A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)

Genetically heterogeneous and sometimes syndromic (e.g., BARDET BIEDL SYNDROME; and SPINOCEREBELLAR ATAXIA TYPE 7) retinopathies with initial RETINAL CONE involvement. They are characterized by decreased VISUAL ACUITY; COLOR VISION DEFECTS; progressive loss of peripheral vision and night blindness.

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.

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.

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