Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report

Abstract Background Spinocerebellar ataxia type 1, is a rare neurodegenerative disorder with autosomal dominant inheritance belonging to the polyglutamine diseases. The diagnosis of this disease requires genetic testing that may also include the search for CAT interruption of the CAG repeat tract. C...

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Bibliographic Details
Main Authors: Guillaume Baille, Nicolas Geoffre, Anna Wissocq, Pauline Planté-Bordeneuve, Eugénie Mutez, Vincent Huin
Format: Article
Language:English
Published: BMC 2024-09-01
Series:BMC Neurology
Subjects:
SCA1
Cerebellar ataxia
Spinocerebellar degenerations
Phenotype
DNA repeat expansion
Polyglutamine disease
Online Access:https://doi.org/10.1186/s12883-024-03846-2

Internet

https://doi.org/10.1186/s12883-024-03846-2

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