Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.

ABSTRACT:

Background

A recurrent homozygous missense variant, c.160G>C;p.(Val54Leu) in HIKESHI, was found to cause a hypomyelinating leukodystrophy with high frequency in the Ashkenazi Jewish population. We provide extended phenotypic classification of this disorder based on clinical history of a further seven affected individuals, assess carrier frequency in the Ashkenazi Jewish population, and provide a neuropathological study.

Methods

Clinical information, neuroimaging, and biosamples were collected. Brain autopsy was performed for one case.

Results

Individuals with HIKESHI-related disease share common clinical features: early axial hypotonia evolving to dystonia or with progressive spasticity, hyperreflexia and clonus, feeding difficulties with poor growth, and nystagmus. S

SUBMITTER: Helman G 

PROVIDER: S-EPMC8327280 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature