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Article

A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.

Journal of neurology - 1 Oct 2021

Mengel David, Traschütz Andreas, Reich Selina, Leyva-Gutiérrez Alejandra, Bender Friedemann, Hauser Stefan, Haack Tobias B, Synofzik Matthis

Abstract excerpt

BACKGROUND: Biallelic STUB1 variants are a well-established cause of autosomal-recessive early-onset multisystemic ataxia (SCAR16). Evidence for STUB1 variants causing autosomal-dominant ataxia (SCA48) so far largely relies on segregation data in larger families. Presenting the first de novo occurrence of a heterozygous STUB1 variant, we here present additional qualitative evidence for STUB1-disease as an...

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Identifiers

PMID: 33811518
DOI: 10.1007/s00415-021-10524-7
PMCID: PMC8463406

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