IllnessCADASIL
Summary
Guideline-curated single gene sequence analysis according to the clinical suspicion on CADASIL
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS + Sanger
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
NOTCH3 | 6966 | NM_000435.3 | AD |
Informations about the disease
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) repeatedly causes ischaemic attacks, cognitive loss up to and including dementia, migraine with aura and mood swings, apathy and white matter lesions. The onset, symptoms and progression of the disease vary between and within families. Most of the pathogenic genetic changes are found in the NOTCH3 gene, depending on their localisation, penetrance and symptomatology vary. The diagnostic yield is very variable and also depends on the quality of clinical diagnosis.
Reference: https://www.ncbi.nlm.nih.gov/books/NBK1500/
- Allelic: Lateral meningocele syndrome (CADASIL)
- Allelic: Myofibromatosis, infantile 2 (CADASIL)
- Cerebral AD arteriopathy-subcortical infarcts-leukoencephalopathyV
- Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (CADASIL)
- Cerebral arteriopathy, AD, + subcortical infarcts, leukoencephalopathy (CADASIL)
- Hereditary multi-infarct dementia (CADASIL)
- Sy: Migraine, encephalopathy, stroke, cognitive impairment, dementia, seizures
- AD
Bioinformatics and clinical interpretation
No text defined