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CLCN2-related leukoencephalopathy with ataxia (LKPAT) and dystonia in two unrelated Indian patients
Koustubh Bavdhankar1, Mahendra Thakre2, Dnyaneshwar Asole3
1Department of Neurology, King Edward Memorial Hospital and Seth G.S. Medical College, Mumbai, India; Movement Disorders Clinic, Department of Neurology, Gleneagles Hospitals, Ernest Borges Road, Mumbai, India.
Abstract:
CLCN2-related leukoencephalopathy with ataxia (CLCN2-related LKPAT) is a rare autosomal recessive, slowly progressive disorder caused by loss-of-function mutations in the CLCN2 gene, leading to leukoencephalopathy due to chloride channel dysfunction. We present clinical, radiological, and genetic findings of two unrelated Indian patients with CLCN2-related LKPAT, contributing to the growing knowledge of this underrecognized condition.
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