Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.

ABSTRACT: Mutations in CLCN2 are a rare cause of autosomal recessive leucoencephalopathy with ataxia and specific imaging abnormalities. Very few cases have been reported to date. Here, we describe the clinical and imaging phenotype of 12 additional CLCN2 patients and expand the known phenotypic spectrum of this disorder. Informed consent was obtained for all patients. Patients underwent either whole-exome sequencing or focused/panel-based sequencing to identify variants. Twelve patients with biallelic CLCN2 variants are described. This includes three novel likely pathogenic missense variants. All patients demonstrated typical MRI changes, including hyperintensity on T₂-weighted images in the posterior limbs of the internal capsules, midbrain cerebral peduncles, middl

SUBMITTER: Nobrega PR 

PROVIDER: S-EPMC10763528 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature