Article
Spinocerebellar ataxia type 48: last but not least.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Sept 2020
De Michele Giovanna, Galatolo Daniele, Barghigiani Melissa, Dello Iacovo Diletta, Trovato Rosanna, Tessa Alessandra, Salvatore Elena, Filla Alessandro, De Michele Giuseppe, Santorelli Filippo M
Abstract excerpt
INTRODUCTION: Biallelic mutations in STUB1, which encodes the E3 ubiquitin ligase CHIP, were originally described in association with SCAR16, a rare autosomal recessive spinocerebellar ataxia, so far reported in 16 kindreds. In the last 2 years, a new form of spinocerebellar ataxia (SCA48), associated with heterozygous mutations in the same gene, has been described in 12 kindreds with autosomal dominant...
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