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Parkin Pleiotropy: Extremely Atypical Phenotypes in Patients With Compound Heterozygous Mutations Cover

Parkin Pleiotropy: Extremely Atypical Phenotypes in Patients With Compound Heterozygous Mutations

Open Access
|Aug 2020

Figures & Tables

Video 1

Case 1. Case 1, age 23, shows rest and postural tremor in four limbs, predominantly right upper and left lower limbs. The patient shows no signs of bradykinesia. Dystonic posturing presents as flexion of the right arm and plantar flexion of the right foot.

tohm-10-1-55-g1.png
Figure 1

Family tree for cases 1 and 2.

Video 2

Case 3. Case 3, age 65, shows a jerky resting, postural and intention tremor, of greater amplitude in the right side; and mild bradykinesia, predominantly in the right side. Video was taken after a 24 hour withdrawal of dopaminergic agonists.

DOI: https://doi.org/10.5334/tohm.55 | Journal eISSN: 2160-8288
Language: English
Submitted on: Apr 6, 2020
Accepted on: Jun 27, 2020
Published on: Aug 13, 2020
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2020 Patricio Millar Vernetti, Malco Rossi, Marcelo Merello, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.