TY - JOUR
T1 - Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor
AU - Clark, L. N.
AU - Ye, X.
AU - Liu, X.
AU - Mirzozoda, K.
AU - Louis, E. D.
N1 - Funding Information:
Dr. Clark has received support from NIH: R21NS050487 (PI) , R01NS060113 (PI) , R01NS0738072 (CoPI) , P50AG008702 (CoI) , P50 NS038370 (CoI) , as well as the Parkinson's Disease foundation (PI) and the Michael J Fox foundation (CoI).
Funding Information:
Dr. Louis has received support from the National Institutes of Health : NINDS #R01 NS042859 (PI) , NINDS #R01 NS39422 (PI) , NINDS #T32 NS07153-24 (PI) , NINDS #R01 NS073872 (PI) , NINDS #R21 NS077094 (CoI) , and NINDS #R01 NS36630 (coI) , as well as the Parkinson's Disease Foundation (PI) ( 50611406 ), the Arlene Bronstein Essential Tremor Research Fund (Columbia University), and the Claire O'Neil Essential Tremor Research Fund (Columbia University).
Publisher Copyright:
© 2015 Elsevier Ltd.
PY - 2015/8/1
Y1 - 2015/8/1
N2 - 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.
AB - 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.
KW - CAG repeat expansions
KW - Essential tremor
KW - Genetics
KW - Spinocerebellar ataxia loci
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U2 - 10.1016/j.parkreldis.2015.06.004
DO - 10.1016/j.parkreldis.2015.06.004
M3 - Article
C2 - 26077168
AN - SCOPUS:84937514397
SN - 1353-8020
VL - 21
SP - 943
EP - 947
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
IS - 8
ER -