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A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.
- Source :
-
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2016 Nov; Vol. 31 (11), pp. 1733-1739. Date of Electronic Publication: 2016 Jul 12. - Publication Year :
- 2016
-
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.<br />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.<br />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.<br />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. © 2016 International Parkinson and Movement Disorder Society.<br /> (© 2016 International Parkinson and Movement Disorder Society.)
- Subjects :
- Abnormalities, Multiple genetics
Adolescent
Adult
Amino Acid Metabolism, Inborn Errors genetics
Ataxia genetics
Ataxia physiopathology
Child
Dystonic Disorders genetics
Dystonic Disorders physiopathology
Female
Humans
Leigh Disease genetics
Male
Movement Disorders genetics
Mutation, Missense
Pedigree
Thiolester Hydrolases genetics
Young Adult
Abnormalities, Multiple physiopathology
Amino Acid Metabolism, Inborn Errors physiopathology
Leigh Disease physiopathology
Movement Disorders physiopathology
Thiolester Hydrolases deficiency
Subjects
Details
- Language :
- English
- ISSN :
- 1531-8257
- Volume :
- 31
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Movement disorders : official journal of the Movement Disorder Society
- Publication Type :
- Academic Journal
- Accession number :
- 27400804
- Full Text :
- https://doi.org/10.1002/mds.26704