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J Neurol Neurosurg Psychiatry 2004;75:1692-1696 doi:10.1136/jnnp.2003.022756
  • Paper

Apolipoprotein E genotypes do not influence the age of onset in Huntington’s disease

  1. C Saft1,
  2. J E Andrich1,
  3. N Brune1,
  4. M Gencik2,
  5. P H Kraus1,
  6. H Przuntek1,
  7. J T Epplen2
  1. 1Huntington Center NRW, Department of Neurology, St Josef Hospital, Ruhr-University Bochum, Germany
  2. 2Huntington Center NRW, Department of Human Genetics, Ruhr-University Bochum, Germany
  1. Correspondence to:
 Dr J E Andrich
 Department of Neurology, St Josef Hospital, Ruhr-University Bochum, Gudrunstr. 56, D-44791 Bochum, Germany; jurgen.andrichruhr-uni.de
  • Received 6 July 2003
  • Accepted 18 February 2004
  • Revised 25 January 2004

Abstract

Objective: The ε4 allele of the apolipoprotein E (ApoE) gene has been defined as a critical factor for early onset neurodegeneration in Pick’s, Parkinson’s, and Alzheimer’s disease. Unexpectedly, the ε4 allele appeared to delay the age of onset in Huntington’s disease (HD) patients. Furthermore, sex specific effects were reported on earlier age of onset due to the ApoE ε2ε3 genotype in males with HD. The age of onset of HD is known to be negatively correlated with increasing lengths of pathogenetic CAG expansions in the huntingtin gene.

Methods: In order to examine the effects of CAG block lengths, we have correlated ApoE genotypes with the age of onset in 145 patients symptomatic for HD with psychiatric and somatic symptoms (depression, psychosis, dementia, choreic, and other movement disorders) harbouring only modestly expanded huntingtin alleles (41–45 CAGs).

Results: The negative correlation between age of onset and CAG block length was established in our HD cohort. Statistically significant effects of the ε4 allele were not obvious regarding clinical characteristics including age of onset, nor were any sex differences for the ε2ε3 genotype observed.

Conclusion: The ApoE genotype does not affect the course of HD significantly.

Footnotes

  • This study was supported by FORUM, Medical Faculty, Ruhr-University Bochum (F269/01)

  • Competing interests: none declared

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