The Apolipoprotein E genotype in patients affected by syndromes with focal cortical atrophy
The role of the Apolipoprotein E (APOE) alleles in syndromes associated with focal cerebral atrophy (fronto-temporal dementia, primary progressive aphasia, corticobasal degeneration) is still controversial. We studied the APOE allele distribution in 39 patients with clinically diagnosed syndromes as...
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Veröffentlicht in: | Neuroscience letters 2001-05, Vol.303 (2), p.87-90 |
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creator | Masullo, Carlo Daniele, Antonio Fazio, Vito M Seripa, Davide Gravina, C Filippini, Valeria Grossi, Dario Fragassi, Nunzia Nichelli, Paolo Leone, Maria Gainotti, Guido |
description | The role of the Apolipoprotein E (APOE) alleles in syndromes associated with focal cerebral atrophy (fronto-temporal dementia, primary progressive aphasia, corticobasal degeneration) is still controversial. We studied the APOE allele distribution in 39 patients with clinically diagnosed syndromes associated with focal cerebral atrophy (FCA), in 50 patients with early-onset probable Alzheimer's disease (EOAD), and in 60 patients with late-onset probable AD (LOAD). The APOE genotype was determined from a blood sample, using polymerase chain reaction and restriction enzyme digestion. The APOE ε4 allele frequency was significantly higher in the EOAD (21.0%) and LOAD (33.3%) groups, but not in the FCA group (5.1%), as compared with controls. In our population, the ε2 allele frequency was significantly higher in patients with FCA (12.8%) than in controls (4.8%). These results show that the APOE ε4 allele is not a risk factor for syndromes associated with FCA. The potential role of the ε2 allele in these syndromes needs further investigation. |
doi_str_mv | 10.1016/S0304-3940(01)01673-1 |
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We studied the APOE allele distribution in 39 patients with clinically diagnosed syndromes associated with focal cerebral atrophy (FCA), in 50 patients with early-onset probable Alzheimer's disease (EOAD), and in 60 patients with late-onset probable AD (LOAD). The APOE genotype was determined from a blood sample, using polymerase chain reaction and restriction enzyme digestion. The APOE ε4 allele frequency was significantly higher in the EOAD (21.0%) and LOAD (33.3%) groups, but not in the FCA group (5.1%), as compared with controls. In our population, the ε2 allele frequency was significantly higher in patients with FCA (12.8%) than in controls (4.8%). These results show that the APOE ε4 allele is not a risk factor for syndromes associated with FCA. The potential role of the ε2 allele in these syndromes needs further investigation.</description><identifier>ISSN: 0304-3940</identifier><identifier>EISSN: 1872-7972</identifier><identifier>DOI: 10.1016/S0304-3940(01)01673-1</identifier><identifier>PMID: 11311499</identifier><identifier>CODEN: NELED5</identifier><language>eng</language><publisher>Shannon: Elsevier Ireland Ltd</publisher><subject>Age of Onset ; Aged ; Alleles ; Alzheimer Disease - genetics ; Alzheimer Disease - metabolism ; Alzheimer Disease - physiopathology ; Alzheimer's disease ; aphasia ; Aphasia, Primary Progressive - genetics ; Aphasia, Primary Progressive - metabolism ; Aphasia, Primary Progressive - physiopathology ; Apolipoprotein E genotype ; Apolipoproteins E - genetics ; Apolipoproteins E - metabolism ; Biological and medical sciences ; Cerebral Cortex - metabolism ; Cerebral Cortex - pathology ; Cerebral Cortex - physiopathology ; Corticobasal degeneration ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Dementia - genetics ; Dementia - metabolism ; Dementia - physiopathology ; DNA Mutational Analysis ; Focal cortical atrophy ; Fronto-temporal dementia ; Gene Frequency - physiology ; Genetic Predisposition to Disease - epidemiology ; Genetic Predisposition to Disease - genetics ; Genotype ; Humans ; Medical sciences ; Middle Aged ; Nerve Degeneration - genetics ; Nerve Degeneration - metabolism ; Nerve Degeneration - physiopathology ; Neurology ; Neurons - metabolism ; Neurons - pathology ; Primary progressive aphasia</subject><ispartof>Neuroscience letters, 2001-05, Vol.303 (2), p.87-90</ispartof><rights>2001</rights><rights>2001 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c420t-cacdf8f91f67dfa948135b80ea8718064732faff9fa0f736d4c35a1d995d902a3</citedby><cites>FETCH-LOGICAL-c420t-cacdf8f91f67dfa948135b80ea8718064732faff9fa0f736d4c35a1d995d902a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/S0304-3940(01)01673-1$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,778,782,3539,27911,27912,45982</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=951432$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11311499$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Masullo, Carlo</creatorcontrib><creatorcontrib>Daniele, Antonio</creatorcontrib><creatorcontrib>Fazio, Vito M</creatorcontrib><creatorcontrib>Seripa, Davide</creatorcontrib><creatorcontrib>Gravina, C</creatorcontrib><creatorcontrib>Filippini, Valeria</creatorcontrib><creatorcontrib>Grossi, Dario</creatorcontrib><creatorcontrib>Fragassi, Nunzia</creatorcontrib><creatorcontrib>Nichelli, Paolo</creatorcontrib><creatorcontrib>Leone, Maria</creatorcontrib><creatorcontrib>Gainotti, Guido</creatorcontrib><title>The Apolipoprotein E genotype in patients affected by syndromes with focal cortical atrophy</title><title>Neuroscience letters</title><addtitle>Neurosci Lett</addtitle><description>The role of the Apolipoprotein E (APOE) alleles in syndromes associated with focal cerebral atrophy (fronto-temporal dementia, primary progressive aphasia, corticobasal degeneration) is still controversial. We studied the APOE allele distribution in 39 patients with clinically diagnosed syndromes associated with focal cerebral atrophy (FCA), in 50 patients with early-onset probable Alzheimer's disease (EOAD), and in 60 patients with late-onset probable AD (LOAD). The APOE genotype was determined from a blood sample, using polymerase chain reaction and restriction enzyme digestion. The APOE ε4 allele frequency was significantly higher in the EOAD (21.0%) and LOAD (33.3%) groups, but not in the FCA group (5.1%), as compared with controls. In our population, the ε2 allele frequency was significantly higher in patients with FCA (12.8%) than in controls (4.8%). These results show that the APOE ε4 allele is not a risk factor for syndromes associated with FCA. The potential role of the ε2 allele in these syndromes needs further investigation.</description><subject>Age of Onset</subject><subject>Aged</subject><subject>Alleles</subject><subject>Alzheimer Disease - genetics</subject><subject>Alzheimer Disease - metabolism</subject><subject>Alzheimer Disease - physiopathology</subject><subject>Alzheimer's disease</subject><subject>aphasia</subject><subject>Aphasia, Primary Progressive - genetics</subject><subject>Aphasia, Primary Progressive - metabolism</subject><subject>Aphasia, Primary Progressive - physiopathology</subject><subject>Apolipoprotein E genotype</subject><subject>Apolipoproteins E - genetics</subject><subject>Apolipoproteins E - metabolism</subject><subject>Biological and medical sciences</subject><subject>Cerebral Cortex - metabolism</subject><subject>Cerebral Cortex - pathology</subject><subject>Cerebral Cortex - physiopathology</subject><subject>Corticobasal degeneration</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Dementia - genetics</subject><subject>Dementia - metabolism</subject><subject>Dementia - physiopathology</subject><subject>DNA Mutational Analysis</subject><subject>Focal cortical atrophy</subject><subject>Fronto-temporal dementia</subject><subject>Gene Frequency - physiology</subject><subject>Genetic Predisposition to Disease - epidemiology</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genotype</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Nerve Degeneration - genetics</subject><subject>Nerve Degeneration - metabolism</subject><subject>Nerve Degeneration - physiopathology</subject><subject>Neurology</subject><subject>Neurons - metabolism</subject><subject>Neurons - pathology</subject><subject>Primary progressive aphasia</subject><issn>0304-3940</issn><issn>1872-7972</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU2LFDEQhoMo7rj6E5SAIHporep0TzqnZVnWD1jw4HryEDJJxYn0dNoko_S_N7MzrMc95YOn6k2eYuwlwnsEXH_4BgK6RqgO3gK-qzdSNPiIrXCQbSOVbB-z1T1yxp7l_AsAeuy7p-wMUSB2Sq3Yj9st8cs5jmGOc4qFwsSv-U-aYllm4vU0mxJoKpkb78kWcnyz8LxMLsUdZf43lC330ZqR25hKOGxMSXHeLs_ZE2_GTC9O6zn7_vH69upzc_P105ery5vGdi2Uxhrr_OAV-rV03qhuQNFvBiAzSBxg3UnR-hquvAEvxdp1VvQGnVK9U9Aacc7eHPvWD_zeUy56F7KlcTQTxX3WUkJtJOBBsKbVvH6oYH8EbYo5J_J6TmFn0qIR9EG_vtOvD241oL7Tr7HWvToF7Dc7cv-rTr4r8PoEmFxN-WQmG_I9p3rsRFupiyNF1dqfQElnW2dgyYVUR6BdDA885B8JuaG1</recordid><startdate>20010504</startdate><enddate>20010504</enddate><creator>Masullo, Carlo</creator><creator>Daniele, Antonio</creator><creator>Fazio, Vito M</creator><creator>Seripa, Davide</creator><creator>Gravina, C</creator><creator>Filippini, Valeria</creator><creator>Grossi, Dario</creator><creator>Fragassi, Nunzia</creator><creator>Nichelli, Paolo</creator><creator>Leone, Maria</creator><creator>Gainotti, Guido</creator><general>Elsevier Ireland Ltd</general><general>Elsevier</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>7TK</scope><scope>7X8</scope></search><sort><creationdate>20010504</creationdate><title>The Apolipoprotein E genotype in patients affected by syndromes with focal cortical atrophy</title><author>Masullo, Carlo ; Daniele, Antonio ; Fazio, Vito M ; Seripa, Davide ; Gravina, C ; Filippini, Valeria ; Grossi, Dario ; Fragassi, Nunzia ; Nichelli, Paolo ; Leone, Maria ; Gainotti, Guido</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c420t-cacdf8f91f67dfa948135b80ea8718064732faff9fa0f736d4c35a1d995d902a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Age of Onset</topic><topic>Aged</topic><topic>Alleles</topic><topic>Alzheimer Disease - genetics</topic><topic>Alzheimer Disease - metabolism</topic><topic>Alzheimer Disease - physiopathology</topic><topic>Alzheimer's disease</topic><topic>aphasia</topic><topic>Aphasia, Primary Progressive - genetics</topic><topic>Aphasia, Primary Progressive - metabolism</topic><topic>Aphasia, Primary Progressive - physiopathology</topic><topic>Apolipoprotein E genotype</topic><topic>Apolipoproteins E - genetics</topic><topic>Apolipoproteins E - metabolism</topic><topic>Biological and medical sciences</topic><topic>Cerebral Cortex - metabolism</topic><topic>Cerebral Cortex - pathology</topic><topic>Cerebral Cortex - physiopathology</topic><topic>Corticobasal degeneration</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Dementia - genetics</topic><topic>Dementia - metabolism</topic><topic>Dementia - physiopathology</topic><topic>DNA Mutational Analysis</topic><topic>Focal cortical atrophy</topic><topic>Fronto-temporal dementia</topic><topic>Gene Frequency - physiology</topic><topic>Genetic Predisposition to Disease - epidemiology</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genotype</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Nerve Degeneration - genetics</topic><topic>Nerve Degeneration - metabolism</topic><topic>Nerve Degeneration - physiopathology</topic><topic>Neurology</topic><topic>Neurons - metabolism</topic><topic>Neurons - pathology</topic><topic>Primary progressive aphasia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Masullo, Carlo</creatorcontrib><creatorcontrib>Daniele, Antonio</creatorcontrib><creatorcontrib>Fazio, Vito M</creatorcontrib><creatorcontrib>Seripa, Davide</creatorcontrib><creatorcontrib>Gravina, C</creatorcontrib><creatorcontrib>Filippini, Valeria</creatorcontrib><creatorcontrib>Grossi, Dario</creatorcontrib><creatorcontrib>Fragassi, Nunzia</creatorcontrib><creatorcontrib>Nichelli, Paolo</creatorcontrib><creatorcontrib>Leone, Maria</creatorcontrib><creatorcontrib>Gainotti, Guido</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>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Neuroscience letters</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Masullo, Carlo</au><au>Daniele, Antonio</au><au>Fazio, Vito M</au><au>Seripa, Davide</au><au>Gravina, C</au><au>Filippini, Valeria</au><au>Grossi, Dario</au><au>Fragassi, Nunzia</au><au>Nichelli, Paolo</au><au>Leone, Maria</au><au>Gainotti, Guido</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The Apolipoprotein E genotype in patients affected by syndromes with focal cortical atrophy</atitle><jtitle>Neuroscience letters</jtitle><addtitle>Neurosci Lett</addtitle><date>2001-05-04</date><risdate>2001</risdate><volume>303</volume><issue>2</issue><spage>87</spage><epage>90</epage><pages>87-90</pages><issn>0304-3940</issn><eissn>1872-7972</eissn><coden>NELED5</coden><abstract>The role of the Apolipoprotein E (APOE) alleles in syndromes associated with focal cerebral atrophy (fronto-temporal dementia, primary progressive aphasia, corticobasal degeneration) is still controversial. We studied the APOE allele distribution in 39 patients with clinically diagnosed syndromes associated with focal cerebral atrophy (FCA), in 50 patients with early-onset probable Alzheimer's disease (EOAD), and in 60 patients with late-onset probable AD (LOAD). The APOE genotype was determined from a blood sample, using polymerase chain reaction and restriction enzyme digestion. The APOE ε4 allele frequency was significantly higher in the EOAD (21.0%) and LOAD (33.3%) groups, but not in the FCA group (5.1%), as compared with controls. In our population, the ε2 allele frequency was significantly higher in patients with FCA (12.8%) than in controls (4.8%). These results show that the APOE ε4 allele is not a risk factor for syndromes associated with FCA. The potential role of the ε2 allele in these syndromes needs further investigation.</abstract><cop>Shannon</cop><pub>Elsevier Ireland Ltd</pub><pmid>11311499</pmid><doi>10.1016/S0304-3940(01)01673-1</doi><tpages>4</tpages></addata></record> |
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subjects | Age of Onset Aged Alleles Alzheimer Disease - genetics Alzheimer Disease - metabolism Alzheimer Disease - physiopathology Alzheimer's disease aphasia Aphasia, Primary Progressive - genetics Aphasia, Primary Progressive - metabolism Aphasia, Primary Progressive - physiopathology Apolipoprotein E genotype Apolipoproteins E - genetics Apolipoproteins E - metabolism Biological and medical sciences Cerebral Cortex - metabolism Cerebral Cortex - pathology Cerebral Cortex - physiopathology Corticobasal degeneration Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Dementia - genetics Dementia - metabolism Dementia - physiopathology DNA Mutational Analysis Focal cortical atrophy Fronto-temporal dementia Gene Frequency - physiology Genetic Predisposition to Disease - epidemiology Genetic Predisposition to Disease - genetics Genotype Humans Medical sciences Middle Aged Nerve Degeneration - genetics Nerve Degeneration - metabolism Nerve Degeneration - physiopathology Neurology Neurons - metabolism Neurons - pathology Primary progressive aphasia |
title | The Apolipoprotein E genotype in patients affected by syndromes with focal cortical atrophy |
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