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Updated: Jan 20, 2026

Measurement & Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia
Published on: January 27, 2018
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins
Enrica Marchionni1,2, Aurélie Méneret3,4, Boris Keren1
1Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, FR.
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.
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