title: Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.
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.
authors.affiliation: Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts 02118, USA.
authors.forename: Christopher F
authors.initials: CF
authors.lastname: McNicoll
authors.forename: Jeanne C
authors.initials: JC
authors.lastname: Latourelle
authors.forename: Marcy E
authors.initials: ME
authors.lastname: MacDonald
authors.forename: Mark F
authors.initials: MF
authors.lastname: Lew
authors.forename: Oksana
authors.initials: O
authors.lastname: Suchowersky
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: Lawrence I
authors.initials: LI
authors.lastname: Golbe
authors.forename: Margery H
authors.initials: MH
authors.lastname: Mark
authors.forename: John H
authors.initials: JH
authors.lastname: Growdon
authors.forename: G Frederick
authors.initials: GF
authors.lastname: Wooten
authors.forename: Ray L
authors.initials: RL
authors.lastname: Watts
authors.forename: Mark
authors.initials: M
authors.lastname: Guttman
authors.forename: Brad A
authors.initials: BA
authors.lastname: Racette
authors.forename: Joel S
authors.initials: JS
authors.lastname: Perlmutter
authors.forename: Anwar
authors.initials: A
authors.lastname: Ahmed
authors.forename: Holly A
authors.initials: HA
authors.lastname: Shill
authors.forename: Carlos
authors.initials: C
authors.lastname: Singer
authors.forename: Marie H
authors.initials: MH
authors.lastname: Saint-Hilaire
authors.forename: Tiffany
authors.initials: T
authors.lastname: Massood
authors.forename: Karen W
authors.initials: KW
authors.lastname: Huskey
authors.forename: Anita L
authors.initials: AL
authors.lastname: DeStefano
authors.forename: Tammy
authors.initials: T
authors.lastname: Gillis
authors.forename: Jayalakshmi
authors.initials: J
authors.lastname: Mysore
authors.forename: Stefano
authors.initials: S
authors.lastname: Goldwurm
authors.forename: Gianni
authors.initials: G
authors.lastname: Pezzoli
authors.forename: Kenneth B
authors.initials: KB
authors.lastname: Baker
authors.forename: Ilia
authors.initials: I
authors.lastname: Itin
authors.forename: Irene
authors.initials: I
authors.lastname: Litvan
authors.forename: Garth
authors.initials: G
authors.lastname: Nicholson
authors.forename: Alastair
authors.initials: A
authors.lastname: Corbett
authors.forename: Martha
authors.initials: M
authors.lastname: Nance
authors.forename: Edward
authors.initials: E
authors.lastname: Drasby
authors.forename: Stuart
authors.initials: S
authors.lastname: Isaacson
authors.forename: David J
authors.initials: DJ
authors.lastname: Burn
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
authors.forename: Peter P
authors.initials: PP
authors.lastname: Pramstaller
authors.forename: Jomana
authors.initials: J
authors.lastname: Al-Hinti
authors.forename: Anette T
authors.initials: AT
authors.lastname: Moller
authors.forename: Karen
authors.initials: K
authors.lastname: Ostergaard
authors.forename: Scott J
authors.initials: SJ
authors.lastname: Sherman
authors.forename: Richard
authors.initials: R
authors.lastname: Roxburgh
authors.forename: Barry
authors.initials: B
authors.lastname: Snow
authors.forename: John T
authors.initials: JT
authors.lastname: Slevin
authors.forename: Franca
authors.initials: F
authors.lastname: Cambi
authors.forename: James F
authors.initials: JF
authors.lastname: Gusella
authors.forename: Richard H
authors.initials: RH
authors.lastname: Myers
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology*; D018911:Trinucleotide Repeats / Q000235:genetics*
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins