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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Auteurs principaux:	Guillaume Baille, Nicolas Geoffre, Anna Wissocq, Pauline Planté-Bordeneuve, Eugénie Mutez, Vincent Huin
Format:	Artigo
Langue:	Inglês
Publié:	BMC 2024-09-01
Collection:	BMC Neurology
Sujets:	SCA1 Cerebellar ataxia Spinocerebellar degenerations Phenotype DNA repeat expansion Polyglutamine disease
Accès en ligne:	https://doi.org/10.1186/s12883-024-03846-2
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