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

Autor:	Gudrun, Schottmann, Akosua, Sarpong, Carmen, Lorenz, Natalie, Weinhold, Esther, Gill, Lisa, Teschner, Sacha, Ferdinandusse, Ronald J A, Wanders, Alessandro, Prigione, Markus, Schuelke
Rok vydání:	2016
Předmět:	Adult Male Movement Disorders Adolescent Mutation Missense Pedigree Young Adult Dystonic Disorders Humans Abnormalities Multiple Ataxia Female Thiolester Hydrolases Leigh Disease Child Amino Acid Metabolism Inborn Errors
Zdroj:	Movement disorders : official journal of the Movement Disorder Society. 31(11)
ISSN:	1531-8257
Popis:	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.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.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.913AG (p.T305A) HIBCH mutation. Enzyme activity was reduced, and a valine challenge reduced the oxygen consumption rate.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. © 2016 International Parkinson and Movement Disorder Society.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::2008ca2297fc85bc4cd2d81114ee460d https://pubmed.ncbi.nlm.nih.gov/27400804 Zobrazit plný text záznamu Plný text