Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia.

Ivana R Raslan Thiago Yoshinaga Tonholo Silva Fernando KokMarcelo M RodriguesMarcelo M Aragão Ricardo S PinhoMarcondes C FrançaOrlando Grazianni Povoas Barsottini José Luiz Pedroso

Published in: Neurology. Genetics (2024)

This study re-emphasizes the genetic heterogeneity of congenital ataxias and the absence of a clear phenotype-genotype relationship. A specific genetic diagnosis was established in 46.7% of patients. Autosomal dominant, associated with sporadic cases, was recognized as an important genetic inheritance. The results of this analysis highlight the value of whole-exome sequencing as an efficient screening tool in patients with congenital ataxia.

Keyphrases

genome wide
end stage renal disease
copy number
ejection fraction
chronic kidney disease
peritoneal dialysis
late onset
single cell
data analysis