Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report.

Niharika DuggiralaKathie J NgoSabrina M PagnoniAlberto L RosaBrent L Fogel

Published in: Journal of medical case reports (2023)

To our knowledge, no previous cases of spinocerebellar ataxia type 14 have been reported in Argentina, expanding the global presence of this neurological disorder. This diagnosis supports whole exome sequencing as a high-yield method for identifying coding variants causing cerebellar ataxias and emphasizes the importance of broadening the clinical availability of whole exome sequencing for undiagnosed patients and families.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
early onset
healthcare
peritoneal dialysis
copy number
prognostic factors
gene expression
patient reported outcomes
dna methylation
genome wide