Article
A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p.
Annals of neurology - 1 Mar 1995
Vahedi K, Joutel A, Van Bogaert P, Ducros A, Maciazeck J, Bach J F, Bousser M G, Tournier-Lasserve E
Abstract excerpt
Hereditary paroxysmal cerebellar ataxia (HPCA) is an autosomal dominant disorder characterized by the recurrence of intermittent attacks of vestibulocerebellar ataxia lasting from 15 minutes to a few days. The number of attacks is often significantly decreased by acetazolamide treatment. Neurological examination shows a permanent gaze-evoked nystagmus, as well as a mild cerebellar ataxia in most patients. The...
Topics
- Cerebellar Ataxia
- Child
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 19
- Female
- Genetic Linkage
- Genetic Markers
- Genotype
- Haplotypes
- Humans