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

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

Open Access
|Jul 2019

Figures & Tables

Video 1

Clinical examination in both fraternal twins. They both present with cerebellar gait and dysmetria as well as distal postural and action tremor of the upper limbs. In addition, the boy displays mild spastic gait and the girl dystonic tremor of the neck (barely noticeable on the video due to regular botulinum toxin injections) as well as dystonic postures of the upper limbs.

tre-09-641-g001.jpg
Figure 1

Brain MRI of fraternal twins (boy: a-b-c-d-e and girl: f-g-h-i-j). Axial FLAIR-weighted images (a-b-c-d/f-g-h-i) showing diffuse but mild hyperintensities (arrows) of the cortico-spinal tracts with T1-isointensity (e and j), associated with mild hypointensities of the globus pallidi (arrowheads), suggesting a hypomyelinating leukoencephalopathy.

DOI: https://doi.org/10.5334/tohm.473 | Journal eISSN: 2160-8288
Language: English
Submitted on: Jan 22, 2019
Accepted on: Jun 24, 2019
Published on: Jul 17, 2019
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2019 Enrica Marchionni, Aurélie Méneret, Boris Keren, Judith Melki, Christian Denier, Alexandra Durr, Emmanuelle Apartis, Odile Boespflug-Tanguy, Fanny Mochel, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons License.