Spinocerebellar ataxia: relationship between phenotype and genotype - a review.

doi:10.1111/cge.12808

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Article

Spinocerebellar ataxia: relationship between phenotype and genotype - a review.

Clinical genetics - 1 Oct 2016

Sun Y-M, Lu C, Wu Z-Y

Abstract excerpt

Spinocerebellar ataxia (SCA) comprises a large group of heterogeneous neurodegenerative disorders inherited in an autosomal dominant fashion. It is characterized by progressive cerebellar ataxia with oculomotor dysfunction, dysarthria, pyramidal signs, extrapyramidal signs, pigmentary retinopathy, peripheral neuropathy, cognitive impairment and other symptoms. It is classified according to the clinical...

Topics

Ataxins
Diagnosis, Differential
Genetic Association Studies
Humans
Magnetic Resonance Imaging
Mutation
Sequence Analysis, DNA
Spinocerebellar Ataxias

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Open in PubMed

Identifiers

PMID: 27220866
DOI: 10.1111/cge.12808

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