PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism Cover

PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism

Tremor and Other Hyperkinetic Movements

Volume 6 (2016): Issue 0

By: Anamika Giri, Gamze Guven, Ann-Kathrin Hauser, Nihan Erginul-Unaltuna, Basar Bilgic, Hakan Gurvit, Peter Heutink, Thomas Gasser, Ebba Lohmann and Javier Simón-Sánchez

Open Access

|Mar 2016

Figures & Tables

Figure 1. Pedigree structure and brain imaging of the index case; and electropherogram of PLA2G6 p.R747W mutation in the index case and her unaffected brother. (A) Pedigree of the index case (individual with blue fill) with PLA2G6 p.R747W mutation. Samples with a dot were subjected to whole-genome sequencing. Mutant alleles are shown with a “+” symbol, and wild-type alleles are indicated with “−.” (B–E). T1 images of brain magnetic resonance imaging of the index case, performed at the age of 30, showing no atrophy of the brainstem and cerebellum (B), marked atrophy in the right side of the frontal and temporal cortical areas (C), asymmetrical atrophy of the right perisylvian region (D), and no atrophy of the medial, lateral, and anterior temporal areas, occipital lobes or cerebellum (E). (F) Positron emission tomography showing significant hypometabolism in the right parietal and right temporal areas. (G) Electropherogram of PLA2G6 p.R747W mutation in the index case (homozygous; left panel) and her unaffected brother (heterozygous; right panel). The position of this mutation is marked with a black arrow.

Video 1.

Video 1. Index case video clip. The first part of the video shows the patient before starting any treatment. She had generalized severe bradykinesia, hypomimia, and intermittent arm tremor, and was not able to stand up or walk on her own. The second part of the video shows the patient after the establishment of a subcutaneous apomorphine pump (5mg/hour). Although she was able to get up and walk again, mild bradykinesia and hypomimia, and mild postural instability are still noted.

DOI: https://doi.org/10.5334/tohm.289 | Journal eISSN: 2160-8288

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Language: English

Submitted on: Dec 1, 2015

Accepted on: Jan 27, 2016

Published on: Mar 16, 2016

Published by: Columbia University Libraries/Information Services

In partnership with: Paradigm Publishing Services

Publication frequency: 1 issue per year

Keywords:

© 2016 Anamika Giri, Gamze Guven, Ann-Kathrin Hauser, Nihan Erginul-Unaltuna, Basar Bilgic, Hakan Gurvit, Peter Heutink, Thomas Gasser, Ebba Lohmann, Javier Simón-Sánchez, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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