Article
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.
Nature genetics - 1 Jan 1994
Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N
Abstract excerpt
Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder characterized by combined systemic degeneration of the dentatofugal and pallidofugal pathways. We investigated a candidate gene and found that DRPLA patients had an expanded CAG trinucleotide repe...
Topics
- Alleles
- Amino Acid Sequence
- Atrophy
- Base Sequence
- Brain
- Cerebellar Ataxia
- Chromosomes, Human, Pair 12
- DNA Primers
- Female
- Globus Pallidus
- Humans
- Male
- Molecular Sequence Data
- Nervous System Diseases
- Oligodeoxyribonucleotides
- Pedigree
- Repetitive Sequences, Nucleic Acid