{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Helman G"],"funding":["NIDA NIH HHS","NINDS NIH HHS","National Health and Medical Research Council","National Institutes of Health","Australian Research Council"],"pagination":["11-19"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8327280"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["121"],"pubmed_abstract":["<h4>Background</h4>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.<h4>Methods</h4>Clinical information, neuroimaging, and biosamples were collected. Brain autopsy was performed for one case.<h4>Results</h4>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"],"journal":["Pediatric neurology"],"pubmed_title":["Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy."],"pmcid":["PMC8327280"],"funding_grant_id":["75N95019C00048","U54 NS115052","1068278"],"pubmed_authors":["Hacker JL","Ekstein J","Stutterd CA","Vanderver A","Almad A","Harding B","Hirsch Y","Zerem A","Johansson MM","Helman G","Pizzino A","Viaene AN","Schmidt JL","Grinspan JB","Woidill S","LeFevre AN","Taft RJ","Fattal-Valevski A","Sase S","Simons C"],"additional_accession":[]},"is_claimable":false,"name":"Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.","description":"<h4>Background</h4>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.<h4>Methods</h4>Clinical information, neuroimaging, and biosamples were collected. Brain autopsy was performed for one case.<h4>Results</h4>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","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Aug","modification":"2026-05-08T02:01:21.132Z","creation":"2025-02-19T01:31:26.467Z"},"accession":"S-EPMC8327280","cross_references":{"pubmed":["34111619"],"doi":["10.1016/j.pediatrneurol.2021.04.014"]}}