Cerebellar Development and Circuit Maturation: A Common Framework for Spinocerebellar Ataxias
نویسندگان
چکیده
منابع مشابه
Cellular and circuit mechanisms underlying spinocerebellar ataxias.
Degenerative ataxias are a common form of neurodegenerative disease that affect about 20 individuals per 100,000. The autosomal dominant spinocerebellar ataxias (SCAs) are caused by a variety of protein coding mutations (single nucleotide changes, deletions and expansions) in single genes. Affected genes encode plasma membrane and intracellular ion channels, membrane receptors, protein kinases,...
متن کاملSpinocerebellar ataxias.
UNLABELLED Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. OBJECTIVE To carry out a clinical and genetic...
متن کاملAutosomal dominant spinocerebellar ataxias
Key-words Disease name and synonyms Diagnostic criteria / Definition Classification Prevalence Clinical description Differential diagnosis Management Diagnostic methods Genetic counselling Outlook References
متن کاملTitle : Ophthalmologic features of the common spinocerebellar ataxias
Purpose of review: The spinocerebellar ataxias are a phenotypically and genetically diverse group of autosomal dominant disorders that cause pathological degeneration in the cerebellum, brainstem, and retina, resulting in a wide variety of ophthalmologic signs and symptoms. Recent findings: The genetic discrimination of the spinocerebellar ataxias has advanced dramatically over the past decade....
متن کاملCoenzyme Q10 and spinocerebellar ataxias.
The aim of this study was to investigate the association between drug exposure and disease severity in SCA types 1, 2, 3 and 6. The Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) enrolled 319 participants with SCA1, 2, 3, and 6 from 12 medical centers in the United States and repeatedly measured clinical severity by the Scale for Assessment and Rating of Ataxia (SARA), the U...
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ژورنال
عنوان ژورنال: Frontiers in Neuroscience
سال: 2020
ISSN: 1662-453X
DOI: 10.3389/fnins.2020.00293