A Tunisian patient with CLCN2-related leukoencephalopathy.

ABSTRACT: CLCN2-related leukoencephalopathy (CC2L OMIM#: 615651) is a recently identified rare disorder. It is caused by autosomal recessive mutations in the CLCN2 gene and leads to the dysfunction of its encoded CLC-2 chloride channel protein with characteristic brain MRI features of leukoencephalopathy. We report the first Tunisian patient with clinical features of ClCN-2-related leukoencephalopathy. A 54-year-old female with a family history of leukemia, male infertility, motor disability, and headaches who initially presented with a tension-type headache and normal physical examination. At the follow-up, she developed mild gait ataxia and psycho-cognitive disturbances. A previously reported homozygous NM_004366.6(CLCN2):c.1709G > A (p.Trp570Ter) stop gained mutation was identified. This r

SUBMITTER: Ben Mohamed D 

PROVIDER: S-EPMC9792646 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature