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Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor Cover

Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor

Open Access
|Jun 2024

Figures & Tables

Video 1

Neurological Assessment Demonstrating Mild Postural and Intention Tremors with Preserved Proprioceptive Function. This video demonstrates a mild postural tremor involving distal joints of both hands rather than involvement of the wrist or elbow. A head tilt is noted to the right, and head tremor is irregular. On finger to nose maneuver, intention tremor is evident, although worse on the left, where mild dysmetria briefly evident. Romberg’s sign is negative, indicating preserved proprioceptive function. Tandem gait abnormalities were not evident in this assessment.

tohm-14-1-889-g1.png
Figure 1

MRI shows no cerebral atrophy, no cerebellar atrophy, or other structural abnormalities.

tohm-14-1-889-g2.png
Figure 2

The patient’s family genetic profile. (A) Pedigree chart showing symptom occurrence and genetic status. (B) Capillary electrophoresis results with genotypes of II:3 (12/12) and III:1 (12/74).

DOI: https://doi.org/10.5334/tohm.889 | Journal eISSN: 2160-8288
Language: English
Submitted on: Mar 18, 2024
Accepted on: May 22, 2024
Published on: Jun 5, 2024
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2024 Weili Luo, Xiaosheng Zheng, Zhiru Lin, Wei Luo, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.