Dystonic Tremor as Main Clinical Manifestation of SCA21.

Autor: Yahya V; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Baiata C; Division of Neurology, CHU of Grenoble, Grenoble Institute of Neurosciences, Grenoble Alpes University, Grenoble, France.; Neurology Unit, Foundation IRCCS San Gerardo dei Tintori, University of Milano-Bicocca, Monza, Italy., Monfrini E; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Correia S; Division of Neurology, CHU of Grenoble, Grenoble Institute of Neurosciences, Grenoble Alpes University, Grenoble, France., Brescia G; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Di Fonzo A; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Moro E; Division of Neurology, CHU of Grenoble, Grenoble Institute of Neurosciences, Grenoble Alpes University, Grenoble, France.
Jazyk: angličtina
Zdroj: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Nov; Vol. 11 (11), pp. 1445-1450. Date of Electronic Publication: 2024 Sep 28.
DOI: 10.1002/mdc3.14220
Abstrakt: Background: Spinocerebellar ataxia type 21 (SCA21) is a rare inherited neurological disorder characterized by motor, cognitive, and behavioral disturbances, caused by autosomal dominant TMEM240 variants.
Objectives: To identify the genetic cause of a dystonic tremor with autosomal dominant inheritance.
Methods: Six subjects of a multi-generational French family affected by tremor and dystonia were studied. Each patient underwent a comprehensive clinical assessment and a whole-exome sequencing analysis.
Results: All six subjects presented with early-onset prominent hand dystonic tremor and multifocal/generalized dystonia, secondarily developing mild cerebellar ataxia. The younger generation showed more pronounced cognitive and behavioral impairment. The known pathogenic TMEM240 c.509C>T (p.P170L) variant was found in heterozygosis in all subjects.
Conclusions: Dystonic tremor can represent the core clinical feature of SCA21, even in absence of overt cerebellar ataxia. Therefore, TMEM240 pathogenic variants should be considered disease-causing in subjects displaying dystonic tremor, variably associated with ataxia, parkinsonism, neurodevelopmental disorders, and cognitive impairment.
(© 2024 The Author(s). Movement Disorders Clinical Practice published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)
Databáze: MEDLINE
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