A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17.
Hussein AlgahtaniBader Hamza ShirahSamah AlmatrafiMohammad H Al-QahtaniAngham Abdulrahman AbdulkareemMuhammad Imran NaseerPublished in: Neurological research (2020)
In conclusion, we report a novel variant in CWF19L1 as a candidate causal variant in two sisters with autosomal recessive cerebellar ataxia. This is the first report coming from Arab countries. Additional reports in patients with a progressive course and adult-onset are needed, but this could be the first report of this disease diagnosed in adulthood since it is a disease of children and adolescents. In addition, our patients had epileptic seizures, which were not previously documented in patients with CWF19L1 mutations. We postulate that mutations in this gene have widespread functional and structural changes in multiple levels of the neuraxis rather than being a pure cerebellar disorder.
Keyphrases
- late onset
- early onset
- end stage renal disease
- ejection fraction
- newly diagnosed
- copy number
- genome wide
- chronic kidney disease
- intellectual disability
- peritoneal dialysis
- depressive symptoms
- emergency department
- genome wide identification
- prognostic factors
- muscular dystrophy
- transcription factor
- autism spectrum disorder
- adverse drug