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

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 se...

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Autores principales: Marchionni, Enrica, Méneret, Aurélie, Keren, Boris, Melki, Judith, Denier, Christian, Durr, Alexandra, Apartis, Emmanuelle, Boespflug-Tanguy, Odile, Mochel, Fanny
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692767/
https://www.ncbi.nlm.nih.gov/pubmed/31413903
http://dx.doi.org/10.7916/tohm.v0.641
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author Marchionni, Enrica
Méneret, Aurélie
Keren, Boris
Melki, Judith
Denier, Christian
Durr, Alexandra
Apartis, Emmanuelle
Boespflug-Tanguy, Odile
Mochel, Fanny
author_facet Marchionni, Enrica
Méneret, Aurélie
Keren, Boris
Melki, Judith
Denier, Christian
Durr, Alexandra
Apartis, Emmanuelle
Boespflug-Tanguy, Odile
Mochel, Fanny
author_sort Marchionni, Enrica
collection PubMed
description 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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spelling pubmed-66927672019-08-14 KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins Marchionni, Enrica Méneret, Aurélie Keren, Boris Melki, Judith Denier, Christian Durr, Alexandra Apartis, Emmanuelle Boespflug-Tanguy, Odile Mochel, Fanny Tremor Other Hyperkinet Mov (N Y) Case Reports 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. Columbia University Libraries/Information Services 2019-07-17 /pmc/articles/PMC6692767/ /pubmed/31413903 http://dx.doi.org/10.7916/tohm.v0.641 Text en © 2019 Marchionni et al. https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommercial–No Derivatives License, which permits the user to copy, distribute, and transmit the work provided that the original authors and source are credited; that no commercial use is made of the work; and that the work is not altered or transformed.
spellingShingle Case Reports
Marchionni, Enrica
Méneret, Aurélie
Keren, Boris
Melki, Judith
Denier, Christian
Durr, Alexandra
Apartis, Emmanuelle
Boespflug-Tanguy, Odile
Mochel, Fanny
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins
title KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins
title_full KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins
title_fullStr KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins
title_full_unstemmed KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins
title_short KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins
title_sort kif1c variants are associated with hypomyelination, ataxia, tremor, and dystonia in fraternal twins
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692767/
https://www.ncbi.nlm.nih.gov/pubmed/31413903
http://dx.doi.org/10.7916/tohm.v0.641
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