Subclinical leukodystrophy and infertility in a man with a novel homozygous <i>CLCN2</i> mutation

Abstract

Mutations in the CLCN2 gene encoding ClC-2, a chloride channel implicated in brain ion and water homeostasis, have been recently associated with a rare autosomal recessive leukoencephalopathy, characterized by specific MRI findings caused by chronic white matter edema.1 Acknowledgment: The authors thank Mario Savoiardo, an Italian pioneer in neuroradiology, who died during the revision process of this article, for his help, insightful comments, and diagnoses. The authors and his friends around the world will miss him.