Childhood-onset writer's cramp, with later ataxia: A clue to COQ8A-related disorders

Tonholo Silva and colleagues report 2 illustrative cases within a single family of childhood-onset writer's cramp and subsequent cerebellar ataxia caused by COQ8A mutations [1]. This is a very uncommon presentation and is potentially treatable with coenzyme-Q10 supplementation.

Source: Parkinsonism and Related Disorders - February 7, 2024 Category: Neurology Authors: Christopher D. Stephen Source Type: research