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Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue? Cover

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

Open Access
|Oct 2014

Figures & Tables

tre-04-258-6116-1-g001.jpg
Figure 1

The Pedigree of the Reported Family Is Consistent with an Autosomal Dominant Inheritance Pattern.

The proband is indicated with an arrow. Deceased individuals are crossed by a slash. Note that many subjects of the V generation are not included in the pedigree as most were in the first two decades of life. Only the reportedly affected subjects from that generation and their siblings are shown.

Table 1

Clinical Characteristics of Tremor in Included Subjects

SubjectCurrent AgeAge Onset1LocationSeverity (arm)2
III.78016Arms/head/voice3
III.97850Arms/head/voice3
III.117040Arms/head/voice3
IV.85135Arms32
IV.125620Arms/head2
IV.174238Head0 (only head)
IV.214845Arms2
IV.274820Arms2
IV.284214Arms3
Mean (±SD)57.2 (±14.9)30.9 (±13.5)

1 Approximate age reported by the subjects.

2 Washington Heights–Inwood Genetic Study of Essential Tremor Severity Score.

3 Mild cervical dystonia.

tre-04-258-6116-1-g002.jpg
Figure 2

Linkage Analysis.

Illustration of the Only Genomic Region with a LOD Score >2 in the Linkage Analysis.

DOI: https://doi.org/10.5334/tohm.197 | Journal eISSN: 2160-8288
Language: English
Submitted on: Jun 10, 2014
Accepted on: Sep 15, 2014
Published on: Oct 20, 2014
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2014 Pedro Gonzalez-Alegre, Jorge Di Paola, Kai Wang, Shay Fabbro, Hung-Chun Yu, Tamim H. Shaikh, Benjamin W. Darbro, Alexander G. Bassuk, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons License.