Deutsch
IllnessDentato-rubro-pallido-luysian atrophy
Summary
Short information
If DRPLA (Dentatorubral pallidoluysian atrophy; Machado[-Joseph] disease; SCA3) is suspected, the ATN1 gene is investigated for CAG repeat expansion.
ID
AX1120
Number of genes
1
Accredited laboratory test
Examined sequence length
3,6 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
DRPLA: always CAG repeat expansions
Allelic: Congenital hypotonia, epilepsy, developmental delay, digital anomalies [point mutations: HIS1054ASN, HIS1058TYR, 6-BP INS, 3177AACCTG, HIS1060TYR, HIS1062ARG]
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
Clinical Comment
Cerebellar ataxia with involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline, anticipation
Synonyms
- 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)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
ICD10 Code
G11.8
Bioinformatics and clinical interpretation
No text defined