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

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dc.contributor.author Panas, M en
dc.contributor.author Avramopoulos, D en
dc.contributor.author Karadima, G en
dc.contributor.author Petersen, MB en
dc.contributor.author Vassilopoulos, D en
dc.date.accessioned 2014-03-01T01:48:50Z
dc.date.available 2014-03-01T01:48:50Z
dc.date.issued 1999 en
dc.identifier.issn 0340-5354 en
dc.identifier.uri http://hdl.handle.net/123456789/25610
dc.subject apolipoprotein E en
dc.subject presenilin-1 en
dc.subject Huntington's disease en
dc.subject.classification Clinical Neurology en
dc.subject.other ONSET ALZHEIMERS-DISEASE en
dc.subject.other AGE-OF-ONSET en
dc.subject.other TRINUCLEOTIDE REPEAT en
dc.subject.other EPSILON-4 ALLELE en
dc.subject.other POLYMORPHISM en
dc.subject.other FREQUENCY en
dc.subject.other LENGTH en
dc.subject.other RISK en
dc.subject.other GENE en
dc.subject.other PCR en
dc.title Apolipoprotein E and presenilin-1 genotypes in Huntington's disease en
heal.type journalArticle en
heal.language English en
heal.publicationDate 1999 en
heal.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 (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
heal.publisher DR DIETRICH STEINKOPFF VERLAG en
heal.journalName JOURNAL OF NEUROLOGY en
dc.identifier.isi ISI:000081833900011 en
dc.identifier.volume 246 en
dc.identifier.issue 7 en
dc.identifier.spage 574 en
dc.identifier.epage 577 en


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