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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Bibliographic Details
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
Format: Article
Language:English
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
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Summary: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
ISSN:0340-5354
1432-1459
DOI:10.1007/s004150050406