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Case Reports
. 2019 Nov 7;7(1):88-90.
doi: 10.1002/mdc3.12855. eCollection 2020 Jan.

Mutation of the WARS2 Gene as the Cause of a Severe Hyperkinetic Movement Disorder

Annemarie Hübers  1 , Hans-Jürgen Huppertz  2 , Saskia B Wortmann  3   4   5 , Jan Kassubek  1
Affiliations
Case Reports

Mutation of the WARS2 Gene as the Cause of a Severe Hyperkinetic Movement Disorder

Annemarie Hübers et al. Mov Disord Clin Pract. .
No abstract available

Keywords: Hyperkinetic movement disorder; aminoacyl tRNA synthetase; mitochondria; neurodevelopmental disorder.

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Figures

Figure 1
Figure 1
A: Representative slice of the T1‐weighted magnetic resonance imaging demonstrating gross atrophy of both cerebellar hemispheres. B: The atrophy was quantified by automated atlas‐based magnetic resonance imaging volumetry: the patient's cerebellar volume (red diamond) is shown in comparison to 10,200 control brains at different ages (blue circles), with the patient's cerebellar volume being much lower than those of controls at similar ages. Inlay: color‐coded overlay of z scores on a 3‐dimensional brain image of the patient, with red coloration of the cerebellum, corresponding to a z score of −4 in comparison to age‐matched controls.
See this image and copyright information in PMC

References

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