TY  - JOUR
AU  - Gardiner, Sarah L
AU  - Boogaard, Merel W
AU  - Trompet, Stella
AU  - de Mutsert, Renée
AU  - Rosendaal, Frits R
AU  - Gussekloo, Jacobijn
AU  - Jukema, J Wouter
AU  - Roos, Raymund A C
AU  - Aziz, Ahmad
TI  - Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease-Associated Alleles Among Large Population-Based Cohorts.
JO  - JAMA neurology
VL  - 76
IS  - 6
SN  - 2168-6149
CY  - Chicago, Ill.
PB  - American Medical Association
M1  - DZNE-2020-07123
SP  - 650
PY  - 2019
AB  - Nine hereditary neurodegenerative diseases are known as polyglutamine diseases, including Huntington disease, 6 spinocerebellar ataxias (SCAs) (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17), dentatorubral-pallidoluysion atrophy, and spinal bulbar muscular atrophy.To determine the prevalence of carriers of intermediate and pathological polyglutamine disease-associated alleles among the general population.This observational cross-sectional study included data from 5 large European population-based cohorts that were compiled between 1997 and 2012, and the analyses were conducted in 2018. In total, 16 547 DNA samples were obtained from participants of the 5 cohorts. Individuals with a lifetime diagnosis of major depression were excluded (n = 2351). In the remaining 14 196 participants without an established polyglutamine disease diagnosis, the CAG repeat size in both alleles of all 9 polyglutamine disease-associated genes (PDAGs) (ie, ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, HTT, ATN1, and AR) was determined.The number of CAG repeats in the alleles of the 9 PDAGs.The number of individuals with alleles within the intermediate or pathological range per PDAG, as well as differences in sex, age, and body mass index between individuals carrying alleles within the normal or intermediate range and individuals carrying alleles within the pathological range of PDAGs.In the 14 196 analyzed participants (age range, 18-99 years; 56.3
LB  - PUB:(DE-HGF)16
C6  - pmid:30933216
C2  - pmc:PMC6563569
DO  - DOI:10.1001/jamaneurol.2019.0423
UR  - https://pub.dzne.de/record/140801
ER  -