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Article

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

Nature genetics - 1 Jan 2007

Gros-Louis François, Dupré Nicolas, Dion Patrick, Fox Michael A, Laurent Sandra, Verreault Steve, Sanes Joshua R, Bouchard Jean-Pierre, Rouleau Guy A

Abstract excerpt

The past decade has seen great advances in unraveling the biological basis of hereditary ataxias. Molecular studies of spinocerebellar ataxias (SCA) have extended our understanding of dominant ataxias. Causative genes have been identified for a few autosomal recessive ataxias: Friedreich's ataxia, ataxia with vitamin E deficiency, ataxia telangiectasia, recessive spastic ataxia of Charlevoix-Saguenay and ataxia...

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PMID: 17159980
DOI: 10.1038/ng1927

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SPTBN2

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Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.PMID 17159980Read ↗

Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.Semantic proximity Read ↗

SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey.Semantic proximity Read ↗

SYNE1 mutations in autosomal recessive cerebellar ataxia.Semantic proximity Read ↗

Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.Semantic proximity Read ↗

Identifying SYNE1 ataxia and extending the mutational spectrum in Korea.Semantic proximity Read ↗

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.Semantic proximity Read ↗

Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.Semantic proximity Read ↗

Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.Semantic proximity Read ↗

Recessive ataxias.Semantic proximity Read ↗

Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia.Semantic proximity Read ↗

Two Cases of Autosomal Recessive Spinocerebellar Ataxia-8 Showing Two Novel Variants of SYNE1 in Japanese Families.Semantic proximity Read ↗

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.Semantic proximity Read ↗

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