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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Recessive mutations in > VPS13D cause childhood onset movement disorders.
Ann. Neurol. 83, 1089-1095 (2018)
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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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Protein; Acanthocytosis; Variants; Chorea; Yeast; Gene
ISSN (print) / ISBN
0364-5134
e-ISSN
1531-8249
Zeitschrift
Annals of Neurology
Quellenangaben
Band: 83,
Heft: 6,
Seiten: 1089-1095
Verlag
Wiley
Verlagsort
111 River St, Hoboken 07030-5774, Nj Usa
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)