Last update: 14/06/2006
Background to disease
OMIM 125370
Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease characterised by myoclonic epilepsy, cerebellar ataxia, choreoathetosis, and dementia. Degeneration occurs in the dentatorubral and pallidoluysian parts of the central nervous system. There is clinical overlap with Huntington disease. DRPLA is extremely rare in Europeans.
The disease is caused by an expansion of a polymorphic CAG repeat within the coding region of the ATN1 gene. Pathogenic alleles have 49 or more repeats.
Laboratory Analysis
Contact scientist: Lampros Mavrogiannis
|
Test Level |
Test |
*Target reporting time |
|
1 |
CAG repeat sizing PCR |
8 weeks |
* Predictive testing = 14 days to report