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

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.

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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