Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study

Christopher F. McNicoll, Jeanne C. Latourelle, Marcy E. MacDonald, Mark F. Lew, Oksana Suchowersky, Christine Klein, Lawrence I. Golbe, Margery H. Mark, John H. Growdon, G. Frederick Wooten, Ray L. Watts, Mark Guttman, Brad A. Racette, Joel S. Perlmutter, Anwar Ahmed, Holly A. Shill, Carlos Singer, Marie H. Saint-Hilaire, Tiffany Massood, Karen W. HuskeyAnita L. DeStefano, Tammy Gillis, Jayalakshmi Mysore, Stefano Goldwurm, Gianni Pezzoli, Kenneth B. Baker, Ilia Itin, Irene Litvan, Garth Nicholson, Alastair Corbett, Martha Nance, Edward Drasby, Stuart Isaacson, David J. Burn, Patrick F. Chinnery, Peter P. Pramstaller, Jomana Al-Hinti, Anette T. Moller, Karen Ostergaard, Scott J. Sherman, Richard Roxburgh, Barry Snow, John T. Slevin, Franca Cambi, James F. Gusella, Richard H. Myers*

*Corresponding author for this work
    6 Citations (Scopus)

    Abstract

    The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis of Parkinson's disease (PD), and therefore, we evaluated the relationship of the HD CAG repeat size to PD onset age in a large sample of familial PD cases. PD affected siblings (n = 495), with known onset ages from 248 families, were genotyped for the HD CAG repeat. Genotyping failed in 11 cases leaving 484 for analysis, including 35 LRRK2 carriers. All cases had HD CAG repeats (range, 15-34) below the clinical range for HD, although 5.2% of the sample (n = 25) had repeats in the intermediate range (the intermediate range lower limit = 27; upper limit = 35 repeats), suggesting that the prevalence of intermediate allele carriers in the general population is significant. No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD.

    Original languageEnglish
    JournalMovement Disorders
    Volume23
    Issue number11
    Pages (from-to)1596-1601
    Number of pages6
    ISSN0885-3185
    DOIs
    Publication statusPublished - 15.08.2008

    Fingerprint

    Dive into the research topics of 'Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study'. Together they form a unique fingerprint.

    Cite this