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Parkinsonism Relat Disord. 2015 Aug;21(8):943-7. doi: 10.1016/j.parkreldis.2015.06.004. Epub 2015 Jun 6.

Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor.

Author information

1
Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA. Electronic address: lc654@cumc.columbia.edu.
2
Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY, USA. Electronic address: xy2177@cumc.columbia.edu.
3
Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY, USA. Electronic address: xl2269@cumc.columbia.edu.
4
Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY, USA. Electronic address: km2825@columbia.edu.
5
Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, USA; Department of Chronic Disease Epidemiology, Yale School of Public Health, Yale University, New Haven, CT, USA. Electronic address: elan.louis@yale.edu.

Abstract

BACKGROUND:

To investigate the association of repeat expansion size in 10 common degenerative hereditary ataxia genes with essential tremor. These genes were spinocerebellar ataxia (SCA)-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and dentatorubral-pallidolysian atrophy (DRPLA) (ATN1).

METHODS:

Genetic analysis of repeat size in 10 degenerative hereditary ataxia loci was performed in 323 essential tremor patients and 299 controls enrolled at Columbia University. To test for differences in the allele distribution between patients and controls, a CLUMP analysis was performed.

RESULTS:

None of the essential tremor patients had a repeat expansion in the intermediate or pathogenic range. Significant differences in the distribution of repeats in the 'normal' range for SCA2 and SCA8 (both p ≤ 0.02) were observed between essential tremor patients and controls.

CONCLUSIONS:

Our study suggests that pathogenic repeat expansions in SCA loci are not associated with essential tremor.

KEYWORDS:

CAG repeat expansions; Essential tremor; Genetics; Spinocerebellar ataxia loci

PMID:
26077168
PMCID:
PMC4572894
DOI:
10.1016/j.parkreldis.2015.06.004
[Indexed for MEDLINE]
Free PMC Article
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