Recessive mutations in >VPS13D cause childhood onset movement disorders

Recessive mutations in >VPS13D cause childhood onset movement disorders

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 neurolog...

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Bibliographic Details
Published in:Annals of neurology Vol. 83; no. 6; pp. 1089 - 1095
Main Authors: Gauthier, Julie, Meijer, Inge A., Lessel, Davor, Mencacci, Niccolò E., Krainc, Dimitri, Hempel, Maja, Tsiakas, Konstantinos, Prokisch, Holger, Rossignol, Elsa, Helm, Margaret H., Rodan, Lance H., Karamchandani, Jason, Carecchio, Miryam, Lubbe, Steven J., Telegrafi, Aida, Henderson, Lindsay B., Lorenzo, Kerry, Wallace, Stephanie E., Glass, Ian A., Hamdan, Fadi F., Michaud, Jacques L., Rouleau, Guy A., Campeau, Philippe M.
Format: Journal Article
Language:English
Published: United States Wiley Subscription Services, Inc 01-06-2018
Subjects:
Ataxia
Basal ganglia
Biopsy
Brain
Children
Chorea
Disorders
Dystonia
Ganglia
Health risk assessment
Magnetic resonance imaging
Mitochondria
Movement disorders
Muscles
Mutation
Neuroimaging
Neurological diseases
Proteins
Substantia alba
Tremor
Tremor (Muscular contraction)
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Summary: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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ISSN:0364-5134
1531-8249
DOI:10.1002/ana.25204