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Apolipoprotein E and presenilin-1 genotypes in Huntington's disease

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Apolipoprotein E and presenilin-1 genotypes in Huntington's disease (EN)
Panas, M (EN)
Avramopoulos, D (EN)
Petersen, MB (EN)
Karadima, G (EN)
Vassilopoulos, D (EN)
journalArticle (EN)
2014-03-01T01:48:50Z
1999 (EN)
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 (epsilon 2, epsilon 3, epsilon 4) and PS-1 alleles. The results showed that: (a) The age at onset was higher in the group of patients with the epsilon 4 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 epsilon 3/epsilon 3 genotype while it was not detected in patients with epsilon 3/epsilon 4 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. (EN)
Clinical Neurology (EN)
LENGTH (EN)
RISK (EN)
POLYMORPHISM (EN)
Huntington's disease (EN)
EPSILON-4 ALLELE (EN)
AGE-OF-ONSET (EN)
GENE (EN)
ONSET ALZHEIMERS-DISEASE (EN)
FREQUENCY (EN)
apolipoprotein E (EN)
presenilin-1 (EN)
PCR (EN)
TRINUCLEOTIDE REPEAT (EN)
JOURNAL OF NEUROLOGY (EN)
English
DR DIETRICH STEINKOPFF VERLAG (EN)
National Technical University of Athens
Digital Library of National Technical University of Athens | Dspace@NTUA
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