title: Apolipoprotein E and presenilin-1 genotypes in Huntington's disease.
abstract: Huntington's disease (HD) is an autosomal dominant degenerative disease of the central nervous system manifested by involuntary movements (chorea), psychiatric manifestations, and cognitive impairment with a variable age at onset. This variability is mainly attributed to genetic factors. The so-called aging genes [e.g., those for apolipoprotein E (APOE) and presenilin-1 (PS-1) have been implicated in determining the age at onset of Alzheimer's disease, a disease sharing common clinical features with HD. In 60 unrelated patients suffering from HD (mean age at onset 40.1 years, range 20-65) we determined number of CAG repeats and the distribution of the APOE alleles (epsilon2, epsilon3, epsilon4) and PS-1 alleles. The results showed that: (a) The age at onset was higher in the group of patients with the epsilon4 allele (51.6 vs. 38.0 P<0.002), (b) The correlation between the age at onset and the number of CAG repeats was strong in patients with the epsilon3/epsilon3 genotype while it was not detected in patients with epsilon3/epsilon4 genotype. (c) No correlation was found between age at onset and PS-1 alleles. In conclusion, APOE seems to be a significant factor influencing the age at onset of Huntington's disease.
authors.affiliation: Department of Neurology of Athens National University, Greece.
authors.forename: M
authors.initials: M
authors.lastname: Panas
authors.forename: D
authors.initials: D
authors.lastname: Avramopoulos
authors.forename: G
authors.initials: G
authors.lastname: Karadima
authors.forename: M B
authors.initials: MB
authors.lastname: Petersen
authors.forename: D
authors.initials: D
authors.lastname: Vassilopoulos
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D001057:Apolipoproteins E / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D006816:Huntington Disease / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D053764:Presenilin-1; D018911:Trinucleotide Repeats
chemical_list: D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1