Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.
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.
McNicoll
Christopher F
CF
Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts 02118, USA.
Latourelle
Jeanne C
JC
MacDonald
Marcy E
ME
Lew
Mark F
MF
Suchowersky
Oksana
O
Klein
Christine
C
Golbe
Lawrence I
LI
Mark
Margery H
MH
Growdon
John H
JH
Wooten
G Frederick
GF
Watts
Ray L
RL
Guttman
Mark
M
Racette
Brad A
BA
Perlmutter
Joel S
JS
Ahmed
Anwar
A
Shill
Holly A
HA
Singer
Carlos
C
Saint-Hilaire
Marie H
MH
Massood
Tiffany
T
Huskey
Karen W
KW
DeStefano
Anita L
AL
Gillis
Tammy
T
Mysore
Jayalakshmi
J
Goldwurm
Stefano
S
Pezzoli
Gianni
G
Baker
Kenneth B
KB
Itin
Ilia
I
Litvan
Irene
I
Nicholson
Garth
G
Corbett
Alastair
A
Nance
Martha
M
Drasby
Edward
E
Isaacson
Stuart
S
Burn
David J
DJ
Chinnery
Patrick F
PF
Pramstaller
Peter P
PP
Al-Hinti
Jomana
J
Moller
Anette T
AT
Ostergaard
Karen
K
Sherman
Scott J
SJ
Roxburgh
Richard
R
Snow
Barry
B
Slevin
John T
JT
Cambi
Franca
F
Gusella
James F
JF
Myers
Richard H
RH
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*
C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins