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

ABSTRACT: KIF1C (Kinesin Family Member 1C) variants have been associated with hereditary spastic paraplegia and spastic ataxia. 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. KIF1C variants can manifest as a complex movement disorder with cerebellar ataxia and dystonic tremor. KIF1C variants may also cause a hypomyelinating leukoencephalopathy.

SUBMITTER: Marchionni E

PROVIDER: S-EPMC6692767 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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

Marchionni Enrica E Méneret Aurélie A Keren Boris B Melki Judith J Denier Christian C Durr Alexandra A Apartis Emmanuelle E Boespflug-Tanguy Odile O Mochel Fanny F

Tremor and other hyperkinetic movements (New York, N.Y.) 20190717

<h4>Background</h4><i>KIF1C</i> (Kinesin Family Member 1C) variants have been associated with hereditary spastic paraplegia and spastic ataxia.<h4>Case report</h4>We report fraternal twins presenting with cerebellar ataxia and dystonic tremor. Their brain MRI showed a hypomyelinating leukoencephalopathy. Whole exome sequencing identified a homozygous <i>KIF1C</i> variant in both patients.<h4>Discussion</h4><i>KIF1C</i> variants can manifest as a complex movement disorder with cerebellar ataxia a ...[more]

PMID: 31413903

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