KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins

Enrica Marchionni; Aurélie Méneret; Boris Keren; Judith Melki; Christian Denier; Alexandra Durr; Emmanuelle Apartis; Odile Boespflug-Tanguy; Fanny Mochel

doi:10.7916/tohm.v0.641

Tremor and Other Hyperkinetic Movements (Jul 2019)

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins

Enrica Marchionni,
Aurélie Méneret,
Boris Keren,
Judith Melki,
Christian Denier,
Alexandra Durr,
Emmanuelle Apartis,
Odile Boespflug-Tanguy,
Fanny Mochel

Affiliations

Enrica Marchionni: Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, FR
Aurélie Méneret: Department of Neurology, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, FR
Boris Keren: Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, FR
Judith Melki: Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche-788 and University of Paris 11, Bicêtre Hospital, Paris, FR
Christian Denier: Department of Neurology, Bicêtre Hospital, AP-HP, Le Kremlin Bicêtre, FR; University of Paris 11, INSERM U788, Bicêtre Hospital, Paris, FR
Alexandra Durr: Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, FR
Emmanuelle Apartis: Department of Neurophysiology, AP-HP, Saint-Antoine Hospital, Paris, FR
Odile Boespflug-Tanguy: Department of Neuropediatry and Reference centre for leukodystrophies and rare leukoencephalopathies, Robert-Debré Hospital, AP-HP, Paris, FR
Fanny Mochel: Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, FR

DOI: https://doi.org/10.7916/tohm.v0.641
Journal volume & issue: Vol. 9, no. 0
pp. 1 – 4

Abstract

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Background: KIF1C (Kinesin Family Member 1C) variants have been associated with hereditary spastic paraplegia and spastic ataxia. Case report: We report fraternal twins presenting with cerebellar ataxia and dystonic tremor. Their brain MRI showed a hypomyelinating leukoencephalopathy. Whole exome sequencing identified a homozygous KIF1C variant in both patients. Discussion: KIF1C variants can manifest as a complex movement disorder with cerebellar ataxia and dystonic tremor. KIF1C variants may also cause a hypomyelinating leukoencephalopathy.

Published in Tremor and Other Hyperkinetic Movements

ISSN: 2160-8288 (Online)
Publisher: Ubiquity Press
Country of publisher: United Kingdom
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the musculoskeletal system; Medicine: Internal medicine: Neurosciences. Biological psychiatry. Neuropsychiatry: Neurology. Diseases of the nervous system
Website: https://tremorjournal.org

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