Recessive mutations in >VPS13D cause childhood onset movement disorders

Julie Gauthier, Inge A. Meijer, Davor Lessel, Niccolò E. Mencacci, Dimitri Krainc, Maja Hempel, Konstantinos Tsiakas, Holger Prokisch, Elsa Rossignol, Margaret H. Helm, Lance H. Rodan, Jason Karamchandani, Miryam Carecchio, Steven J. Lubbe, Aida Telegrafi, Lindsay B. Henderson, Kerry Lorenzo, Stephanie E. Wallace, Ian A. Glass, Fadi F. Hamdan & 3 others Jacques L. Michaud, Guy A. Rouleau, Philippe M. Campeau

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1089-1095
Number of pages7
JournalAnnals of Neurology
Volume83
Issue number6
DOIs
Publication statusPublished - Jun 1 2018

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Movement Disorders
Neuroacanthocytosis
Leigh Disease
Spastic Paraparesis
Lipidoses
Chorea
Mutation
Dystonia
Tremor
Rare Diseases
Basal Ganglia
Nervous System Diseases
Magnetic Resonance Imaging
Biopsy
Muscles
Brain
Proteins
White Matter
Spastic Ataxia

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Gauthier, J., Meijer, I. A., Lessel, D., Mencacci, N. E., Krainc, D., Hempel, M., ... Campeau, P. M. (2018). Recessive mutations in >VPS13D cause childhood onset movement disorders. Annals of Neurology, 83(6), 1089-1095. https://doi.org/10.1002/ana.25204

Recessive mutations in >VPS13D cause childhood onset movement disorders. / 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.

In: Annals of Neurology, Vol. 83, No. 6, 01.06.2018, p. 1089-1095.

Research output: Contribution to journalArticle

Gauthier, J, Meijer, IA, Lessel, D, Mencacci, NE, Krainc, D, Hempel, M, Tsiakas, K, Prokisch, H, Rossignol, E, Helm, MH, Rodan, LH, Karamchandani, J, Carecchio, M, Lubbe, SJ, Telegrafi, A, Henderson, LB, Lorenzo, K, Wallace, SE, Glass, IA, Hamdan, FF, Michaud, JL, Rouleau, GA & Campeau, PM 2018, 'Recessive mutations in >VPS13D cause childhood onset movement disorders', Annals of Neurology, vol. 83, no. 6, pp. 1089-1095. https://doi.org/10.1002/ana.25204
Gauthier J, Meijer IA, Lessel D, Mencacci NE, Krainc D, Hempel M et al. Recessive mutations in >VPS13D cause childhood onset movement disorders. Annals of Neurology. 2018 Jun 1;83(6):1089-1095. https://doi.org/10.1002/ana.25204
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. / Recessive mutations in >VPS13D cause childhood onset movement disorders. In: Annals of Neurology. 2018 ; Vol. 83, No. 6. pp. 1089-1095.
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