Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation.
J Neurol Sci
; 371: 81-84, 2016 Dec 15.
Article
en En
| MEDLINE
| ID: mdl-27871455
ABSTRACT
Several dominant mutations of CACNA1A gene were associated with at least three different allelic disorders spino-cerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2), and familial hemiplegic migraine-1 (FHM1). It is generally thought that loss-of-function mutations are associated with EA2, gain-of-function missense mutations with FHM1, and abnormal CAG expansions with SCA6. But, overlapping features, atypical symptoms and co-occurrence of distinct phenotypes within the same family were reported. We describe a four generation family showing different phenotypes ranging from EA2 to SCA6 and carrying the p.D302N CACNA1A gene mutation. In our family the phenotypes maintained separate and gender differences corresponding to different phenotypes were observed.
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Banco de datos:
MEDLINE
Asunto principal:
Ataxia
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Canales de Calcio
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Ataxias Espinocerebelosas
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Mutación
Límite:
Adolescent
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Adult
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Child
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Año:
2016
Tipo del documento:
Article