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@ARTICLE{Gardiner:140801,
      author       = {Gardiner, Sarah L and Boogaard, Merel W and Trompet, Stella
                      and de Mutsert, Renée and Rosendaal, Frits R and Gussekloo,
                      Jacobijn and Jukema, J Wouter and Roos, Raymund A C and
                      Aziz, Ahmad},
      title        = {{P}revalence of {C}arriers of {I}ntermediate and
                      {P}athological {P}olyglutamine {D}isease-{A}ssociated
                      {A}lleles {A}mong {L}arge {P}opulation-{B}ased {C}ohorts.},
      journal      = {JAMA neurology},
      volume       = {76},
      number       = {6},
      issn         = {2168-6149},
      address      = {Chicago, Ill.},
      publisher    = {American Medical Association},
      reportid     = {DZNE-2020-07123},
      pages        = {650},
      year         = {2019},
      abstract     = {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; $56.3\%$ female), $10.7\%$ had a CAG repeat
                      number within the intermediate range of at least 1 PDAG.
                      Moreover, up to $1.3\%$ of the participants had a CAG repeat
                      number within the disease-causing range, predominantly in
                      the lower pathological range associated with elderly onset.
                      No differences in sex, age, or body mass index were found
                      between individuals with CAG repeat numbers within the
                      pathological range and individuals with CAG repeat numbers
                      within the normal or intermediate range.These results
                      indicate a high prevalence of individuals carrying
                      intermediate and pathological ranges of polyglutamine
                      disease-associated alleles among the general population.
                      Therefore, a substantially larger proportion of individuals
                      than previously estimated may be at risk of developing a
                      polyglutamine disease later in life or bearing children with
                      a de novo mutation.},
      cin          = {AG Breteler 1},
      ddc          = {610},
      cid          = {I:(DE-2719)1012001},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:30933216},
      pmc          = {pmc:PMC6563569},
      doi          = {10.1001/jamaneurol.2019.0423},
      url          = {https://pub.dzne.de/record/140801},
}