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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 |
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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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B ; VASSILOPOULOS, D</creator><creatorcontrib>PANAS, M ; AVRAMOPOULOS, D ; KARADIMA, G ; PETERSEN, M. B ; VASSILOPOULOS, D</creatorcontrib><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<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><identifier>ISSN: 0340-5354</identifier><identifier>EISSN: 1432-1459</identifier><identifier>DOI: 10.1007/s004150050406</identifier><identifier>PMID: 10463359</identifier><identifier>CODEN: JNRYA9</identifier><language>eng</language><publisher>Berlin: Springer</publisher><subject>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</subject><ispartof>Journal of neurology, 1999-07, Vol.246 (7), p.574-577</ispartof><rights>1999 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c318t-8cab1d35394339587f7ddf830152d73d9622a7ce928614dbe0de7b5544e294843</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1875893$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10463359$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>PANAS, M</creatorcontrib><creatorcontrib>AVRAMOPOULOS, D</creatorcontrib><creatorcontrib>KARADIMA, G</creatorcontrib><creatorcontrib>PETERSEN, M. B</creatorcontrib><creatorcontrib>VASSILOPOULOS, D</creatorcontrib><title>Apolipoprotein E and presenilin-1 genotypes in Huntington's disease</title><title>Journal of neurology</title><addtitle>J Neurol</addtitle><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<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. Prion diseases</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>Humans</subject><subject>Huntington Disease - genetics</subject><subject>Huntington Disease - physiopathology</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Middle Aged</subject><subject>Neurology</subject><subject>Presenilin-1</subject><subject>Trinucleotide Repeats</subject><issn>0340-5354</issn><issn>1432-1459</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><recordid>eNpV0DFPwzAQBWALgWgpjKwoA4IpcI7t2B5RVShSJRaYIye-VEapE3LJ0H9PUCsB0w336enuMXbN4YED6EcCkFwBKJCQn7A5lyJLuVT2lM1BSEiVUHLGLog-AcBMi3M24yBzIZSds-VT1zaha7u-HTDEZJW46JOuR8IYmhBTnmwxtsO-Q0qm_XqMQ4jboY33lPhA6Agv2VntGsKr41ywj-fV-3Kdbt5eXpdPm7QS3AypqVzJvVDCSiGsMrrW3tdGAFeZ18LbPMucrtBmJufSlwgedamUlJhZaaRYsLtD7nTs14g0FLtAFTaNi9iOVOjpwczmZoLpAVZ9S9RjXXR92Ll-X3Aoflor_rU2-Ztj8Fju0P_Rh5omcHsEjirX1L2LVaBfZ7QyVohvHyRyig</recordid><startdate>19990701</startdate><enddate>19990701</enddate><creator>PANAS, M</creator><creator>AVRAMOPOULOS, D</creator><creator>KARADIMA, G</creator><creator>PETERSEN, M. B</creator><creator>VASSILOPOULOS, D</creator><general>Springer</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19990701</creationdate><title>Apolipoprotein E and presenilin-1 genotypes in Huntington's disease</title><author>PANAS, M ; AVRAMOPOULOS, D ; KARADIMA, G ; PETERSEN, M. B ; VASSILOPOULOS, D</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c318t-8cab1d35394339587f7ddf830152d73d9622a7ce928614dbe0de7b5544e294843</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Adult</topic><topic>Age of Onset</topic><topic>Aged</topic><topic>Apolipoproteins E - genetics</topic><topic>Biological and medical sciences</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. 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. B</creatorcontrib><creatorcontrib>VASSILOPOULOS, D</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>PANAS, M</au><au>AVRAMOPOULOS, D</au><au>KARADIMA, G</au><au>PETERSEN, M. B</au><au>VASSILOPOULOS, D</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Apolipoprotein E and presenilin-1 genotypes in Huntington's disease</atitle><jtitle>Journal of neurology</jtitle><addtitle>J Neurol</addtitle><date>1999-07-01</date><risdate>1999</risdate><volume>246</volume><issue>7</issue><spage>574</spage><epage>577</epage><pages>574-577</pages><issn>0340-5354</issn><eissn>1432-1459</eissn><coden>JNRYA9</coden><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 (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<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.</abstract><cop>Berlin</cop><pub>Springer</pub><pmid>10463359</pmid><doi>10.1007/s004150050406</doi><tpages>4</tpages></addata></record> |
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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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