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

Panas, M; Avramopoulos, D; Karadima, G; Petersen, MB; Vassilopoulos, D

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	https://dspace.lib.ntua.gr/xmlui/handle/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