Dystonic Tremor as Main Clinical Manifestation of SCA21.

ABSTRACT:

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 pathog

SUBMITTER: Yahya V 

PROVIDER: S-EPMC11542281 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature