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Gauthier, J.* ; Meijer, I.A.* ; Lessel, D.* ; Mencacci, N.E.* ; Krainc, D.* ; Hempel, M.* ; Tsiakas, K.* ; Prokisch, H. ; Rossignol, E.* ; Helm, M.H.* ; Rodan, L.H.* ; Karamchandani, J.* ; Carecchio, M.* ; Lubbe, S.J.* ; Telegrafi, A.* ; Henderson, L.B.* ; Lorenzo, K.* ; Wallace, S.E.* ; Glass, I.A.* ; Hamdan, F.F.* ; Michaud, J.L.* ; Rouleau, G.A.* ; Campeau, P.M.*

Recessive mutations in > VPS13D cause childhood onset movement disorders.

Ann. Neurol. 83, 1089-1095 (2018)
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VPS13 protein family members VPS13A through VPS13C have been associated with various recessive movement disorders. We describe the first disease association of rare recessive VPS13D variants including frameshift, missense, and partial duplication mutations with a novel complex, hyperkinetic neurological disorder. The clinical features include developmental delay, a childhood onset movement disorder (chorea, dystonia, or tremor), and progressive spastic ataxia or paraparesis. Characteristic brain magnetic resonance imaging shows basal ganglia or diffuse white matter T2 hyperintensities as seen in Leigh syndrome and choreoacanthocytosis. Muscle biopsy in 1 case showed mitochondrial aggregates and lipidosis, suggesting mitochondrial dysfunction. These findings underline the importance of the VPS13 complex in neurological diseases and a possible role in mitochondrial function. Ann Neurol 2018;83:1089-1095
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Publication type Article: Journal article
Document type Scientific Article
Keywords Protein; Acanthocytosis; Variants; Chorea; Yeast; Gene
Language
Publication Year 2018
HGF-reported in Year 2018
ISSN (print) / ISBN 0364-5134
e-ISSN 1531-8249
Journal Annals of Neurology
Quellenangaben Volume: 83, Issue: 6, Pages: 1089-1095 Article Number: , Supplement: ,
Publisher Wiley
Publishing Place 111 River St, Hoboken 07030-5774, Nj Usa
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
DOI 10.1002/ana.25204
WOS ID WOS:000439994300004
Scopus ID 85044947174
PubMed ID 29518281
Erfassungsdatum 2018-03-21
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