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

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...

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Published in:Journal of neurology 1999-07, Vol.246 (7), p.574-577
Main Authors: PANAS, M, AVRAMOPOULOS, D, KARADIMA, G, PETERSEN, M. B, VASSILOPOULOS, D
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container_issue 7
container_start_page 574
container_title Journal of neurology
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creator PANAS, M
AVRAMOPOULOS, D
KARADIMA, G
PETERSEN, M. B
VASSILOPOULOS, D
description 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
doi_str_mv 10.1007/s004150050406
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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&lt;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.</description><subject>Adult</subject><subject>Age of Onset</subject><subject>Aged</subject><subject>Apolipoproteins E - genetics</subject><subject>Biological and medical sciences</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. 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Leukodystrophies. Prion diseases</topic><topic>Female</topic><topic>Genetic Predisposition to Disease</topic><topic>Humans</topic><topic>Huntington Disease - genetics</topic><topic>Huntington Disease - physiopathology</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Membrane Proteins - genetics</topic><topic>Middle Aged</topic><topic>Neurology</topic><topic>Presenilin-1</topic><topic>Trinucleotide Repeats</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>PANAS, M</creatorcontrib><creatorcontrib>AVRAMOPOULOS, D</creatorcontrib><creatorcontrib>KARADIMA, G</creatorcontrib><creatorcontrib>PETERSEN, M. 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subjects Adult
Age of Onset
Aged
Apolipoproteins E - genetics
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Female
Genetic Predisposition to Disease
Humans
Huntington Disease - genetics
Huntington Disease - physiopathology
Male
Medical sciences
Membrane Proteins - genetics
Middle Aged
Neurology
Presenilin-1
Trinucleotide Repeats
title Apolipoprotein E and presenilin-1 genotypes in Huntington's disease
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