Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family.

doi:10.1212/wnl.45.4.793

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Article

Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family.

Neurology - 1 Apr 1995

Filla A, De Michele G, Banfi S, Santoro L, Perretti A, Cavalcanti F, Pianese L, Castaldo I, Barbieri F, Campanella G

Abstract excerpt

The gene for spinocerebellar ataxia type 2 (SCA2) is mapped to chromosome 12q23-24.1. Using D12S79 and D12S105, we performed linkage analysis in nine individuals including six affected members of a four-generation family in which we excluded SCA1 by direct mutation analysis. We obtained a lod sco...

Topics

Adult
Aged
Chromosomes, Human, Pair 12
DNA
Female
Genetic Linkage
Haplotypes
Humans
Italy
Male
Middle Aged
Phenotype
Polymerase Chain Reaction
Spinocerebellar Degenerations

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