Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.

doi:10.1002/mds.27334

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Article

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.

Movement disorders : official journal of the Movement Disorder Society - 1 Jul 2018

Chelban Viorica, Wiethoff Sarah, Fabian-Jessing Bjørn K, Haridy Nourelhoda A, Khan Alaa, Efthymiou Stephanie, Becker Esther B E, O'Connor Emer, Hersheson Joshua, Newland Katrina, Hojland Allan Thomas, Gregersen Pernille A, Lindquist Suzanne G, Petersen Michael B, Nielsen Jørgen E, Nielsen Michael, Wood Nicholas W, Giunti Paola, Houlden Henry

Abstract excerpt

BACKGROUND: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene. Clinically, it presents with a slowly progressive, mainly pure cerebellar ataxia. METHODS: Using next generation sequencing, we screened 194 families with autosomal dominant cerebellar ataxia and normal polyglutamine repeats. In-depth phenotyping was performed using...

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PMID: 29603387
DOI: 10.1002/mds.27334
PMCID: PMC6175136

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