Add to Quick Collection
Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.14/314734
943 Visitors
1211 Hits
0 Downloads
- Title
- Huntington CAG repeat size does not modify onset age in familial Parkinson's disease : the GenePD study
- Related
- Movement disorders, Vol. 23, No. 11, (2008), p.1596-1601
- DOI
- 10.1002/mds.22186
- Publisher
- Wiley-Blackwell
- Date
- 2008
- Author/Creator
- McNicoll, Christopher F
- Author/Creator
- Latourelle, Jeanne C
- Author/Creator
- Watts, Ray L
- Author/Creator
- Guttman, Mark
- Author/Creator
- Racette, Brad A
- Author/Creator
- Perlmutter, Joel S
- Author/Creator
- Ahmed, Anwar
- Author/Creator
- Shill, Holly A
- Author/Creator
- Singer, Carlos
- Author/Creator
- Saint-Hilaire, Marie H
- Author/Creator
- Massood, Tiffany
- Author/Creator
- Huskey, Karen W
- Author/Creator
- MacDonald, Marcy E
- Author/Creator
- DeStefano, Anita L
- Author/Creator
- Gillis, Tammy
- Author/Creator
- Mysore, Jayalakshmi
- Author/Creator
- Goldwurm, Stefano
- Author/Creator
- Pezzoli, Gianni
- Author/Creator
- Baker, Kenneth B
- Author/Creator
- Itin, Ilia
- Author/Creator
- Litvan, Irene
- Author/Creator
- Nicholson, Garth
- Author/Creator
- Corbett, Alastair
- Author/Creator
- Lew, Mark F
- Author/Creator
- Nance, Martha
- Author/Creator
- Drasby, Edward
- Author/Creator
- Isaacson, Stuart
- Author/Creator
- Burn, David J
- Author/Creator
- Chinnery, Patrick F
- Author/Creator
- Pramstaller, Peter P
- Author/Creator
- Al-Hinti, Jomana
- Author/Creator
- Moller, Anette T
- Author/Creator
- Ostergaard, Karen
- Author/Creator
- Sherman, Scott J
- Author/Creator
- Suchowersky, Oksana
- Author/Creator
- Roxburgh, Richard
- Author/Creator
- Snow, Barry
- Author/Creator
- Slevin, John T
- Author/Creator
- Cambi, Franca
- Author/Creator
- Gusella, James F
- Author/Creator
- Myers, Richard H
- Author/Creator
- Klein, Christine
- Author/Creator
- Golbe, Lawrence I
- Author/Creator
- Mark, Margery H
- Author/Creator
- Growdon, John H
- Author/Creator
- Wooten, G. Fredrick
- Description
- 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.
- Description
- 6 page(s)
- Subject Keyword
- 110300 Clinical Sciences
- Subject Keyword
- CAG repeat
- Subject Keyword
- Genetics
- Subject Keyword
- Huntington's disease
- Subject Keyword
- Mitochondria
- Subject Keyword
- Onset age
- Subject Keyword
- Parkinson's disease
- Resource Type
- journal article
- Organisation
- Macquarie University. Australian School of Advanced Medicine
- Identifier
- http://hdl.handle.net/1959.14/314734
- Identifier
- mq:34495
- Identifier
- ISSN:0885-3185
- Identifier
- mq-rm-2013006935
- Identifier
- mq_res-ext-2-s2.0-53149098959
- Language
- eng
- Reviewed
Macquarie University ResearchOnline
