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. 2023 Jun 7:9:100205.
doi: 10.1016/j.prdoa.2023.100205. eCollection 2023.

Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant

Francesca Spagnolo  1 , Edoardo Monfrini  2 , Vincenza Pinto  1 , Giovanni Di Maggio  1 , Paolo De Marco  1 , Giacomo P Comi  2 , Augusto Rini  1 , Alessio Di Fonzo  2
Affiliations

Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant

Francesca Spagnolo et al. Clin Park Relat Disord. .

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.

Keywords: ARCA; Ataxia; SYNE1; Spasticity; Tremor.

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Conflict of interest statement

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Figures

Fig. 1
Fig. 1
Brain MRI (T1 and T1 inversion-recovery weighted sequences) of the patient was available at baseline (A) and three years later (B), showing marked cerebellar atrophy with preserved brainstem, spinal and supratentorial structures. A slight progression of atrophy can be appreciated in the radiological follow-up, with progression in IV ventricle enlargement. The subject gave consent to be videoed for publication both in print and online.
See this image and copyright information in PMC

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