Article
Spinocerebellar ataxia type 1: Clinical and neurophysiological characteristics in German kindreds.
Acta neurologica Scandinavica - 1 Dec 1995
Schöls L, Riess O, Schöls S, Zeck S, Amoiridis G, Langkafel M, Epplen J T, Przuntek H
Abstract excerpt
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by the expansion of an unstable (CAG)n repeat on chromosome 6p. We investigated 36 German families suffering from hereditary ataxias for the SCA1 mutation and elaborated clinical and neurophysiological...
Topics
- Adult
- Alleles
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 6
- DNA Primers
- Electromyography
- Evoked Potentials, Motor
- Female
- Gene Amplification
- Genome
- Germany
- Humans
- Male
- Pedigree
- Pyramidal Tracts
- Spinocerebellar Degenerations