Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype.

doi:10.1212/wnl.51.4.1081

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Article

Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype.

Neurology - 1 Oct 1998

Benton C S, de Silva R, Rutledge S L, Bohlega S, Ashizawa T, Zoghbi H Y

Abstract excerpt

OBJECTIVE: To screen for the SCA-7 mutation in autosomal dominant cerebellar ataxia (ADCA) families and study genotype/phenotype correlations. BACKGROUND: The association of cerebellar ataxia and progressive pigmentary macular dystrophy clinically defines a distinct form of ADCA classified as SCA...

Topics

Adolescent
Adult
Age of Onset
Alleles
Ataxin-7
DNA Mutational Analysis
Family Health
Genotype
Humans
Infant
Magnetic Resonance Imaging
Nerve Tissue Proteins
Pedigree
Phenotype
Spinocerebellar Degenerations
Trinucleotide Repeats

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