A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene

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Item Type:	Article
Title:	A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene
Creators Name:	Schottmann, G., Sarpong, A., Lorenz, C., Weinhold, N., Gill, E., Teschner, L., Ferdinandusse, S., Wanders, R.J.A., Prigione, A. and Schuelke, M.
Abstract:	BACKGROUND: Recessive mutations in the 3-hydroxyisobutyryl-CoA hydrolase gene (HIBCH) are associated with a rare neurodegenerative disease that affects the basal ganglia. Most patients die during infancy or early childhood. Here we describe 5 adolescent and adult patients from 2 unrelated families, who presented with a movement disorder and MRI features suggestive of Leigh syndrome. METHODS: Clinical and metabolic assessment was followed by autozygosity mapping and whole exome and Sanger sequencing. HIBCH enzyme activity and the bioenergetic profile were determined in patient fibroblasts. RESULTS: The movement disorder was dominated by ataxia in one family and by dystonia in the other. All affected family members carried the identical homozygous c.913A>G (p.T305A) HIBCH mutation. Enzyme activity was reduced, and a valine challenge reduced the oxygen consumption rate. CONCLUSIONS: We report the first adult patients with HIBCH deficiency and a disease course much milder than previously reported, thereby expanding the HIBCH-associated phenotypic spectrum.
Keywords:	HIBCH Gene, Ataxia, Dystonia, Basal Ganglia Necrosis, Valine Metabolism, Leigh Syndrome
Source:	Movement Disorders
ISSN:	0885-3185
Publisher:	Wiley-Blackwell
Volume:	31
Number:	11
Page Range:	1733-1739
Date:	November 2016
Official Publication:	https://doi.org/10.1002/mds.26704
PubMed:	View item in PubMed

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