Article
Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p.
Human molecular genetics - 1 Feb 1995
von Brederlow B, Hahn A F, Koopman W J, Ebers G C, Bulman D E
Abstract excerpt
Acetazolamide responsive hereditary paroxysmal cerebellar ataxia (APCA) is a rare autosomal dominant disorder characterized by attacks of cerebellar ataxia and dysarthria with normal or near normal neurologic function between attacks. A genome-wide search using polymorphic di- and tri-nucleotide...
Topics
- Acetazolamide
- Cerebellar Ataxia
- Chromosome Mapping
- Chromosomes, Human, Pair 19
- Family Health
- Female
- Genetic Linkage
- Genetic Markers
- Haplotypes
- Heterozygote
- Humans
- Male