Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).
Claudia CiaccioRaffaele CastelloSilvia EspositoMichele PinelliVincenzo NigroGiorgio CasariLuisa ChiappariniChiara Pantaleoninull nullStefano D'ArrigoPublished in: Cerebellum (London, England) (2020)
Spinocerebellar Ataxia 23 (SCAR23) is a newly described condition caused by mutations in TDP2 gene. To date, only four patients from two families have been reported, all carrying the same homozygous mutation. We describe a fifth patient, carrying a novel mutation in the same gene, thus confirming the role of TDP2 mutations in determining the disease and defining the main features SCAR23: pediatric onset ataxia and drug-resistant epilepsy and intellectual disability. We further show the clinical presentation which is associated with the neuroradiological evidence of progressive cerebellar atrophy, giving the evidence that SCAR23 can be classified as a degenerative condition.
Keyphrases
- intellectual disability
- drug resistant
- multidrug resistant
- autism spectrum disorder
- acinetobacter baumannii
- amyotrophic lateral sclerosis
- end stage renal disease
- early onset
- wound healing
- ejection fraction
- newly diagnosed
- copy number
- genome wide
- chronic kidney disease
- multiple sclerosis
- prognostic factors
- peritoneal dialysis
- genome wide identification
- young adults
- patient reported outcomes
- dna methylation
- cystic fibrosis
- transcription factor
- patient reported