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Article

Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.

Journal of neurology - 1 Sept 2024

Marelli C, Ramond F, Vignal C, Blanchet C, Frost S, Hao Q, Bocquet B, Nadjar Y, Leboucq N, Taieb G, Benkirane M, Hersent C, Koenig M, Meunier I

Abstract excerpt

INTRODUCTION: Ubiquitin C-terminal hydrolase L1 (UCHL1) has been associated with a severe, complex autosomal recessive spastic paraplegia (HSP79) [1] [2] [3] [4]. More recently, UCHL1 loss of function (LoF) variants have been associated to an autosomal dominant disease characterized by late-onset spastic ataxia, neuropathy, and frequent optic atrophy [5]. METHODS: Routine clinical care whole-genome (WGS) and...

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PMID: 39030458
DOI: 10.1007/s00415-024-12574-z

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