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Movement disorders : official journal of the Movement Disorder Society · 2008

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

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

Аннотация

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.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты