Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient.

Mariotti, C; Gellera, C; Grisoli, M; Mineri, R; Castucci, A; Di Donato, S

Mariotti, C; Gellera, C; Grisoli, M; Mineri, R; Castucci, A; Di Donato, S.

Afiliación

Mariotti C; Division of Biochemistry and Genetics, National Neurological Institute-IRCCS Carlo Besta, Milan, Italy. mariotti@istituto-besta.it

Neurology ; 57(8): 1502-4, 2001 Oct 23.

Article en En | MEDLINE | ID: mdl-11673601

RESUMEN

SCA6 is caused by CAG expansion in the alpha 1A voltage-dependent calcium channel subunit gene. The authors studied an Italian family in which one patient carried a fully expanded SCA6 allele with 26-CAG repeats, whereas the other affected family member was homozygous for an intermediate-size allele of 19-CAG repeats. Three family members, heterozygous for the intermediate allele, were clinically unaffected. The findings demonstrate a dose-dependent pathogenic effect of an intermediate CAG expansion in the SCA6 gene.

Asunto(s)

Canales de Calcio/genética; Ataxia Cerebelosa/genética; Expansión de Repetición de Trinucleótido; Adulto; Salud de la Familia; Femenino; Homocigoto; Humanos; Masculino; Linaje

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Canales de Calcio / Ataxia Cerebelosa / Expansión de Repetición de Trinucleótido Límite: Adult / Female / Humans / Male Idioma: En Revista: Neurology Año: 2001 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos

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