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HIKESHI-related hypomyelinating leukodystrophy (HHL)

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October 15, 2026
Description

HIKESHI-related hypomyelinating leukodystrophy (HLD13), also called HIKESHI leukodystrophy (OMIM #616881), is a rare, progressive, often fatal genetic leukodystrophy that damages the myelin in the brain and peripheral nervous system. It is caused by mutations in the HIKESHI gene and primarily affects children of Ashkenazi Jewish descent. The gene-therapy research is showing promise.

The HIKESHI Foundation is a family-led nonprofit founded by Artem and Kristina Manilov, the parents of an affected child. The website provides current information about the disease and research news: plain-language summaries of published research with links to the original publications.

Altogether, these pages give you both an accessible overview and a curated, summarized gateway to the primary literature on HIKESHI-related hypomyelinating leukodystrophy.


Updated on October 15, 2026

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