We describe a case of severe adult-onset progressive tremulous cerebellar ataxia with pyramidal signs associated with a rare homozygous truncating pathogenic variant in the SYNE1 gene (p.Arg5371*). This contrasts the initial views on SYNE1-related ataxia as a relatively benign, slowly progressive condition, with important implications for clinic-genetic counselling.
Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant / F. Spagnolo, E. Monfrini, V. Pinto, G. Di Maggio, P. De Marco, G.P. Comi, A. Rini, A. Di Fonzo. - 9:(2023), pp. 100205.1-100205.3. [10.1016/j.prdoa.2023.100205]
Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant
E. MonfriniSecondo
;P. De Marco;G.P. Comi;
2023
Abstract
We describe a case of severe adult-onset progressive tremulous cerebellar ataxia with pyramidal signs associated with a rare homozygous truncating pathogenic variant in the SYNE1 gene (p.Arg5371*). This contrasts the initial views on SYNE1-related ataxia as a relatively benign, slowly progressive condition, with important implications for clinic-genetic counselling.
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