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

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 s...

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