KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins. (17th July 2019)

• Record Type: Journal Article
• Authors: Marchionni, Enrica; Méneret, Aurélie; Keren, Boris; Melki, Judith; Denier, Christian; Durr, Alexandra; Apartis, Emmanuelle; Boespflug-Tanguy, Odile; Mochel, Fanny
• Is Part Of: Tremor and other hyperkinetic movements. Volume 9(2019)
• Publication Date: 2019-07-17
• Subjects: KIF1C -- dystonic tremor -- cerebellar ataxia -- hypomyelinating leukoencephalopathy; Tremor -- Periodicals; Hyperkinesia -- Periodicals; 616.8
• DOI: 10.7916/tohm.v0.641
• Languages: English
• ISSNs: 2160-8288

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.