Tremor and Other Hyperkinetic Movements · 2019 · 14 citations · 0 references
Life SciencesNeurologyNeuroscienceHuman GeneticsMovement DisordersNeurogeneticsGenetic DisordersHereditary NeuropathiesMendelian Neurological DisordersNeurodegenerative DiseasesNeurodegenerative DisordersNeurogenetic DisordersDizygotic TwinsDystonic TremorExome SequencingHereditary AtaxiasHypomyelinating DisordersInherited LeukoencephalopathiesStructural MriWhole Exome Sequencing Studies
<strong>Background:</strong> <em>KIF1C</em> (Kinesin Family Member 1C) variants have been associated with hereditary spastic paraplegia and spastic ataxia. <strong>Case report:</strong> We report fraternal twins presenting with cerebellar ataxia and dystonic tremor. Their brain MRI showed a hypomyelinating leukoencephalopathy. Whole exome sequencing identified a homozygous <em>KIF1C</em> variant in both patients. <strong>Discussion:</strong> <em>KIF1C</em> variants can manifest as a complex movement disorder with cerebellar ataxia and dystonic tremor. <em>KIF1C</em> variants may also cause a hypomyelinating leukoencephalopathy.