Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier

Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier

Abstract Background Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as Huntington disease (HD), dystonia and parkinsonism. SCA17 is caused by an expansion of...

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Bibliographic Details
Main Authors: Paola Origone, Fabio Gotta, Merit Lamp, Lucia Trevisan, Alessandro Geroldi, Davide Massucco, Matteo Grazzini, Federico Massa, Flavia Ticconi, Matteo Bauckneht, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone, Paola Mandich
Format: Article
Language:English
Published: BMC 2018-03-01
Series:Cerebellum & Ataxias
Subjects:
Spinocerebellar ataxia
TBP gene
SCA17
Incomplete penetrance
Online Access:http://link.springer.com/article/10.1186/s40673-018-0086-x

Internet

http://link.springer.com/article/10.1186/s40673-018-0086-x

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