Parkinsonism Relat Disord, Vol. 128, Article Number: 107152, 2024

PMID: 39326284

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is typically described as an early-onset leukodystrophy with cerebellar ataxia being the primary clinical feature. However, other movement disorders have also been reported. In this study, seven cases of MLC are presented, where cerebellar ataxia was common, while dystonia appeared in six cases, parkinsonism in one, and stereotypy in two. Notably, six patients from the Agarwal community carried the c.135dup variant. This observation highlights the presence of additional movement disorders beyond cerebellar ataxia and underscores the phenotypic variability associated with the c.135dup variant, particularly in the Agarwal community.

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