IllnessDentatorubral pallidoluysian atrophy
Summary
If DRPLA [Dentatorubral pallidoluysian atrophy; Machado[-Joseph] disease; SCA3] is suspected, the ATN1 gene is investigated for CAG repeat expansion.
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
DRPLA: X
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
ATN1 | 3573 | NM_001007026.2 | AD |
Informations about the disease
Dentatorubral pallidoluysian atrophy (DRPLA) is a progressive brain disorder that causes involuntary movements, mental/emotional problems and a decline in thinking ability. The average age of onset for DRPLA is ~30 years, but DRPLA can begin at any time between infancy and middle adulthood. The symptoms differ somewhat between affected children and adults. If DRPLA occurs before the age of 20, myoclonus, seizures, behavioral changes, mental impairment and ataxia are most common. When DRPLA begins after the age of 20, the most common symptoms comprise ataxia, choreoathetosis and psychiatric symptoms (delusions, dementia) that resemble some cases of Huntington disease. DRPLA is caused as a trinucleotide repeat expansion disease in the ATN1 gene and is inherited in an autosomal dominant manner; anticipation tends to be more pronounced via paternal inheritance. As no standardized clinical diagnostic criteria for DRPLA have been published, the molecular genetic diagnostic yield also remains unclear.
Reference: https://www.ncbi.nlm.nih.gov/books/NBK1491/
- Alias: DRPLA
- Alias: Haw River syndrome
- Alias: Myoclonic epilepsy with choreoathetosis
- Alias: Naito-Oyanagi disease
- Allelic: Congenital hypotonia, epilepsy, developmental delay, digital anomalies (ATN1)
- Ataxia, chorea, seizure + dementia (ATN1_CAG)
- Azorean disease of the nervous system (ATN1_CAG)
- Dentatorubral pallidoluysian atrophy, DPLA (ATN1_CAG)
- Haw river syndrome (ATN1_CAG)
- Machado disease (ATN1_CAG)
- Machado-Joseph disease (ATN1_CAG)
- Myoclonic epilepsy with choreoathetosis (ATN1_CAG)
- Naito-Oyanagi disease (ATN1_CAG)
- Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia (ATN1_CAG)
- Spinocerebellar ataxia type 3, SCA3 (ATN1_CAG)
- AD
Bioinformatics and clinical interpretation
No text defined