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

Topics are automatically created in this forum from a mix of newsfeeds. Please be aware that we have no control over the quality or factual representation of these postings. Some may be informational, whereas some may be wholly inaccurate.

Always research all options and discuss them with your physician before following any specific directive provided in these articles.

Current feeds are: Google and Pubmed
Forum rules
Topics are automatically created in this forum from a mix of newsfeeds. Please be aware that we have no control over the quality or factual representation of these postings. Some may be informational, whereas some may be wholly inaccurate.

Always research all options and discuss them with your physician before following any specific directive provided in these articles.

Current feeds are: Google and Pubmed
Health Reporter
Senior Contributor
Posts: 3427
Joined: Mon Oct 19, 2020 3:32 pm
Location: USA

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

Post by Health Reporter »


Advertisement
Pediatr Neurol. 2021 May 14;121:11-19. doi: 10.1016/j.pediatrneurol.2021.04.014. Online ahead of print.ABSTRACTBACKGROUND: 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. Severe morbidity or death during febrile illness occurred in five of the nine affected individuals. Magnetic resonance images of seven patients were analyzed and demonstrated diffuse hypomyelination and thin corpus callosum. Genotyping data of more than 125,000 Ashkenazi Jewish individuals revealed a carrier frequency of 1 in 216. Gross pathology examination in one case revealed abnormal white matter. Microscopically, there was a near-total absence of myelin with a relative preservation of axons. The cerebral white matter showed several reactive astrocytes and microglia.CONCLUSIONS: We provide pathologic evidence for a primary disorder of the myelin in HIKESHI-related leukodystrophy. These findings are consistent with the hypomyelination seen in brain magnetic resonance imaging and with the clinical features of early-onset spastic/dystonic quadriplegia and nystagmus. The high carrier rate of the recurrent variant seen in the Ashkenazi Jewish population requires increased attention to screening and diagnosis of this condition, particularly in this population.PMID:34111619 | DOI:10.1016/j.pediatrneurol.2021.04.014

Source: https://pubmed.ncbi.nlm.nih.gov/3411161 ... 2&v=2.14.4