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.

Kif1c variants are associated with hypomyelination, ataxia, tremor, and dystonia in fraternal twins / Marchionni, E.; Meneret, A.; Keren, B.; Melki, J.; Denier, C.; Durr, A.; Apartis, E.; Boespflug-Tanguy, O.; Mochel, F.. - In: TREMOR AND OTHER HYPERKINETIC MOVEMENTS. - ISSN 2160-8288. - 9:(2019). [10.7916/tohm.v0.641]

Kif1c variants are associated with hypomyelination, ataxia, tremor, and dystonia in fraternal twins

Marchionni E.
Primo
;
2019

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.
cerebellar ataxia; dystonic tremor; hypomyelinating leukoencephalopathy; KIF1C
01 Pubblicazione su rivista::01i Case report
Kif1c variants are associated with hypomyelination, ataxia, tremor, and dystonia in fraternal twins / Marchionni, E.; Meneret, A.; Keren, B.; Melki, J.; Denier, C.; Durr, A.; Apartis, E.; Boespflug-Tanguy, O.; Mochel, F.. - In: TREMOR AND OTHER HYPERKINETIC MOVEMENTS. - ISSN 2160-8288. - 9:(2019). [10.7916/tohm.v0.641]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1619697
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