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

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

Author information

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

Conflict of interest statement

Funding: None. Conflicts of Interest: The authors report no conflicts of interest. Ethics Statements: This study was performed in accordance with the ethical standards detailed in the Declaration of Helsinki. We have received a written patient consent form from the participants in the study. The consent is kept on file with the patients’ case notes.

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