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

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

Tremor Other Hyperkinet Mov (N Y). 2019 Jul 17:9. doi: 10.7916/tohm.v0.641. eCollection 2019.

Authors

Enrica Marchionni^{1

2}, Aurélie Méneret^{3

4}, Boris Keren¹, Judith Melki⁵, Christian Denier⁶, Alexandra Durr^{1

4}, Emmanuelle Apartis⁷, Odile Boespflug-Tanguy⁸, Fanny Mochel^{1

4

9}

Affiliations

¹ Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, FR.
² Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Rome, IT.
³ Department of Neurology, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, FR.
⁴ Sorbonne Universités, UPMC-Paris 6, UMR S 1127 and Inserm U 1127, CNRS UMR 7225, ICM, Paris, FR.
⁵ Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche-788 and University of Paris 11, Bicêtre Hospital, Paris, FR.
⁶ Department of Neurology, Bicêtre Hospital, AP-HP, Le Kremlin Bicêtre, FR; University of Paris 11, INSERM U788, Bicêtre Hospital, Paris, FR.
⁷ Department of Neurophysiology, AP-HP, Saint-Antoine Hospital, Paris, FR.
⁸ Department of Neuropediatry and Reference centre for leukodystrophies and rare leukoencephalopathies, Robert-Debré Hospital, AP-HP, Paris, FR.
⁹ Sorbonne Universités, Groupe de Recherche Clinique Neurométabolisme, Paris, FR.

Abstract

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.

Keywords: KIF1C; cerebellar ataxia; dystonic tremor; hypomyelinating leukoencephalopathy.

Publication types

Case Reports

MeSH terms

Adolescent
Cerebellar Ataxia / diagnosis
Cerebellar Ataxia / genetics*
Dystonia / genetics
Dystonic Disorders
Female
Humans
Kinesins / genetics*
Male
Mutation / genetics*
Spastic Paraplegia, Hereditary / genetics
Tremor / diagnosis
Tremor / genetics*
Twins, Dizygotic

Substances

KIF1C protein, human
Kinesins