Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2012 Nov;18(9):1027-8.
doi: 10.1016/j.parkreldis.2012.05.020. Epub 2012 Jun 12.

Age at onset in Huntington's disease: replication study on the association of HAP1

Georgia Karadima  1 , Christina Dimovasili, Georgios Koutsis, Demetris Vassilopoulos, Marios Panas
Affiliations

Age at onset in Huntington's disease: replication study on the association of HAP1

Georgia Karadima et al. Parkinsonism Relat Disord. 2012 Nov.

Abstract

In recent years two association studies investigating the HAP1 T441M (rs4523977) polymorphism as a potential modifying factor of the age at onset (AAO) of Huntington's disease (HD), have been reported. Initially evidence for association was found between the M441 risk allele and the AAO. Subsequently, a second study, although failing to replicate these findings, found evidence for association between the same risk allele and AAO of motor symptoms (mAAO). In the present study, the role of the HAP1 T441M polymorphism as a modifier of the AAO in HD was investigated in a cohort of 298 Greek HD patients. In this cohort the CAG repeat number accounted for 55% of the variance in AAO. No association was found between the HAP1 T441M polymorphism and the AAO of HD.

PubMed Disclaimer

Similar articles

  • Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease.
    Metzger S, Rong J, Nguyen HP, Cape A, Tomiuk J, Soehn AS, Propping P, Freudenberg-Hua Y, Freudenberg J, Tong L, Li SH, Li XJ, Riess O. Metzger S, et al. Hum Mol Genet. 2008 Apr 15;17(8):1137-46. doi: 10.1093/hmg/ddn003. Epub 2008 Jan 11. Hum Mol Genet. 2008. PMID: 18192679
  • A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease.
    Dhaenens CM, Burnouf S, Simonin C, Van Brussel E, Duhamel A, Defebvre L, Duru C, Vuillaume I, Cazeneuve C, Charles P, Maison P, Debruxelles S, Verny C, Gervais H, Azulay JP, Tranchant C, Bachoud-Levi AC, Dürr A, Buée L, Krystkowiak P, Sablonnière B, Blum D; Huntington French Speaking Network. Dhaenens CM, et al. Neurobiol Dis. 2009 Sep;35(3):474-6. doi: 10.1016/j.nbd.2009.06.009. Epub 2009 Jul 8. Neurobiol Dis. 2009. PMID: 19591938
  • Association between caffeine intake and age at onset in Huntington's disease.
    Simonin C, Duru C, Salleron J, Hincker P, Charles P, Delval A, Youssov K, Burnouf S, Azulay JP, Verny C, Scherer C, Tranchant C, Goizet C, Debruxelles S, Defebvre L, Sablonnière B, Romon-Rousseaux M, Buée L, Destée A, Godefroy O, Dürr A, Landwehrmeyer B; REGISTRY Study of the European Huntington's Disease Network; Bachoud-Levi AC, Richard F, Blum D, Krystkowiak P; Huntington French Speaking Network. Simonin C, et al. Neurobiol Dis. 2013 Oct;58:179-82. doi: 10.1016/j.nbd.2013.05.013. Epub 2013 May 31. Neurobiol Dis. 2013. PMID: 23732677
  • Molecular biology of Huntington's disease.
    McFarland KN, Cha JH. McFarland KN, et al. Handb Clin Neurol. 2011;100:25-81. doi: 10.1016/B978-0-444-52014-2.00003-3. Handb Clin Neurol. 2011. PMID: 21496570 Review.
  • What do we know about Late Onset Huntington's Disease?
    Chaganti SS, McCusker EA, Loy CT. Chaganti SS, et al. J Huntingtons Dis. 2017;6(2):95-103. doi: 10.3233/JHD-170247. J Huntingtons Dis. 2017. PMID: 28671137 Free PMC article. Review.
See all similar articles

Cited by