Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3.

Quan-Fu Li Hao-Ling Cheng Lu Yang Yin Ma Jing-Jing Zhao Yi Dong Zhi-Ying Wu

Published in: Molecular genetics & genomic medicine (2020)

Gene dosage effect may play an important role in the AAO and severity of disease, and homozygosity for ATXN3 enhances phenotypic severity. Our findings expand clinical features and genetic characteristics of homozygous SCA3 patients.

Keyphrases

genome wide
end stage renal disease
copy number
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
dna methylation
early onset