Genetics of dementia
Summary 25% of all people aged 55 years and older have a family history of dementia. For most, the family history is due to genetically complex disease, where many genetic variations of small effect interact to increase risk of dementia. The lifetime risk of dementia for these families is about 20%,...
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| Veröffentlicht in: | The Lancet (British edition) 2014-03, Vol.383 (9919), p.828-840 |
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| creator | Loy, Clement T, FRACP Schofield, Peter R, Prof Turner, Anne M, FRACP Kwok, John BJ, Dr |
| description | Summary 25% of all people aged 55 years and older have a family history of dementia. For most, the family history is due to genetically complex disease, where many genetic variations of small effect interact to increase risk of dementia. The lifetime risk of dementia for these families is about 20%, compared with 10% in the general population. A small proportion of families have an autosomal dominant family history of early-onset dementia, which is often due to mendelian disease, caused by a mutation in one of the dementia genes. Each family member has a 50% chance of inheriting the mutation, which confers a lifetime dementia risk of over 95%. In this Review, we focus on the evidence for, and the approach to, genetic testing in Alzheimer's disease ( APP , PSEN1 , and PSEN2 genes), frontotemporal dementia ( MAPT, GRN, C9ORF72 , and other genes), and other familial dementias. We conclude by discussing the practical aspects of genetic counselling. |
| doi_str_mv | 10.1016/S0140-6736(13)60630-3 |
| format | Article |
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For most, the family history is due to genetically complex disease, where many genetic variations of small effect interact to increase risk of dementia. The lifetime risk of dementia for these families is about 20%, compared with 10% in the general population. A small proportion of families have an autosomal dominant family history of early-onset dementia, which is often due to mendelian disease, caused by a mutation in one of the dementia genes. Each family member has a 50% chance of inheriting the mutation, which confers a lifetime dementia risk of over 95%. In this Review, we focus on the evidence for, and the approach to, genetic testing in Alzheimer's disease ( APP , PSEN1 , and PSEN2 genes), frontotemporal dementia ( MAPT, GRN, C9ORF72 , and other genes), and other familial dementias. We conclude by discussing the practical aspects of genetic counselling.</description><identifier>ISSN: 0140-6736</identifier><identifier>EISSN: 1474-547X</identifier><identifier>DOI: 10.1016/S0140-6736(13)60630-3</identifier><identifier>PMID: 23927914</identifier><identifier>CODEN: LANCAO</identifier><language>eng</language><publisher>Kidlington: Elsevier Ltd</publisher><subject>Aged ; Alzheimer Disease - diagnosis ; Alzheimer Disease - genetics ; Alzheimer's disease ; Biological and medical sciences ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Dementia ; Dementia - diagnosis ; Dementia - genetics ; Dementia disorders ; Family medical history ; General aspects ; Genes ; Genetic Counseling - methods ; Genetic diversity ; Genetic Linkage - genetics ; Genetic screening ; Genetic Testing ; Genetic Variation - genetics ; Genetics ; Health risk assessment ; Humans ; Internal Medicine ; Medical sciences ; Middle Aged ; Mutation ; Mutation - genetics ; Neurology ; Pedigree ; Phenotype</subject><ispartof>The Lancet (British edition), 2014-03, Vol.383 (9919), p.828-840</ispartof><rights>Elsevier Ltd</rights><rights>2014 Elsevier Ltd</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2014 Elsevier Ltd. All rights reserved.</rights><rights>Copyright Elsevier Limited Mar 1, 2014</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c530t-4df61c46ed86add8c542ca0c6337344374fb2c46cd70d2e58c0ac04542ddee673</citedby><cites>FETCH-LOGICAL-c530t-4df61c46ed86add8c542ca0c6337344374fb2c46cd70d2e58c0ac04542ddee673</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/1513845645?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995,64385,64387,64389,72469</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=28212821$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23927914$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Loy, Clement T, FRACP</creatorcontrib><creatorcontrib>Schofield, Peter R, Prof</creatorcontrib><creatorcontrib>Turner, Anne M, FRACP</creatorcontrib><creatorcontrib>Kwok, John BJ, Dr</creatorcontrib><title>Genetics of dementia</title><title>The Lancet (British edition)</title><addtitle>Lancet</addtitle><description>Summary 25% of all people aged 55 years and older have a family history of dementia. For most, the family history is due to genetically complex disease, where many genetic variations of small effect interact to increase risk of dementia. The lifetime risk of dementia for these families is about 20%, compared with 10% in the general population. A small proportion of families have an autosomal dominant family history of early-onset dementia, which is often due to mendelian disease, caused by a mutation in one of the dementia genes. Each family member has a 50% chance of inheriting the mutation, which confers a lifetime dementia risk of over 95%. In this Review, we focus on the evidence for, and the approach to, genetic testing in Alzheimer's disease ( APP , PSEN1 , and PSEN2 genes), frontotemporal dementia ( MAPT, GRN, C9ORF72 , and other genes), and other familial dementias. 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Prion diseases</subject><subject>Dementia</subject><subject>Dementia - diagnosis</subject><subject>Dementia - genetics</subject><subject>Dementia disorders</subject><subject>Family medical history</subject><subject>General aspects</subject><subject>Genes</subject><subject>Genetic Counseling - methods</subject><subject>Genetic diversity</subject><subject>Genetic Linkage - genetics</subject><subject>Genetic screening</subject><subject>Genetic Testing</subject><subject>Genetic Variation - genetics</subject><subject>Genetics</subject><subject>Health risk assessment</subject><subject>Humans</subject><subject>Internal Medicine</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>Phenotype</subject><issn>0140-6736</issn><issn>1474-547X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqFkEtLAzEURoMotj52bhVBhLoYvZk8ZrpRpGgVBBcquAvpzR2ITmc0mQr-e9OHCm5cXLLIuV--HMb2OZxy4PrsAbiETBdCD7g40aAFZGKN9bksZKZk8bzO-j9Ij23F-AIAUoPaZL1cDPNiyGWf7Y2poc5jPGyrQ0dTajpvd9hGZetIu6tzmz1dXz2ObrK7-_Ht6PIuQyWgy6SrNEepyZXaOleikjlaQC1EIaQUhawmebpHV4DLSZUIFkEmyjmi1GubDZa5b6F9n1HszNRHpLq2DbWzaLgCmWZYQEKP_qAv7Sw0qV2iuCil0lIlSi0pDG2MgSrzFvzUhk_Dwcy1mYU2M3diuDALbUakvYNV-mwyJfez9e0pAccrwEa0dRVsgz7-cmXO55O4iyVHSduHp2AiemqQnA-EnXGt_7fK-Z8ErH3j06Ov9Enx99cm5gaWIfMMLhYJQnwBqH-afQ</recordid><startdate>20140301</startdate><enddate>20140301</enddate><creator>Loy, Clement T, FRACP</creator><creator>Schofield, Peter R, Prof</creator><creator>Turner, Anne M, FRACP</creator><creator>Kwok, John BJ, Dr</creator><general>Elsevier Ltd</general><general>Elsevier</general><general>Elsevier Limited</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>0TT</scope><scope>0TZ</scope><scope>0U~</scope><scope>3V.</scope><scope>7QL</scope><scope>7QP</scope><scope>7RV</scope><scope>7TK</scope><scope>7U7</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88C</scope><scope>88E</scope><scope>88G</scope><scope>88I</scope><scope>8AF</scope><scope>8AO</scope><scope>8C1</scope><scope>8C2</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>ASE</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BEC</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FPQ</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K6X</scope><scope>K9-</scope><scope>K9.</scope><scope>KB0</scope><scope>KB~</scope><scope>LK8</scope><scope>M0R</scope><scope>M0S</scope><scope>M0T</scope><scope>M1P</scope><scope>M2M</scope><scope>M2O</scope><scope>M2P</scope><scope>M7N</scope><scope>M7P</scope><scope>MBDVC</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>S0X</scope><scope>7X8</scope></search><sort><creationdate>20140301</creationdate><title>Genetics of dementia</title><author>Loy, Clement T, FRACP ; Schofield, Peter R, Prof ; Turner, Anne M, FRACP ; Kwok, John BJ, Dr</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c530t-4df61c46ed86add8c542ca0c6337344374fb2c46cd70d2e58c0ac04542ddee673</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Aged</topic><topic>Alzheimer Disease - diagnosis</topic><topic>Alzheimer Disease - genetics</topic><topic>Alzheimer's disease</topic><topic>Biological and medical sciences</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Dementia</topic><topic>Dementia - diagnosis</topic><topic>Dementia - genetics</topic><topic>Dementia disorders</topic><topic>Family medical history</topic><topic>General aspects</topic><topic>Genes</topic><topic>Genetic Counseling - methods</topic><topic>Genetic diversity</topic><topic>Genetic Linkage - genetics</topic><topic>Genetic screening</topic><topic>Genetic Testing</topic><topic>Genetic Variation - genetics</topic><topic>Genetics</topic><topic>Health risk assessment</topic><topic>Humans</topic><topic>Internal Medicine</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Neurology</topic><topic>Pedigree</topic><topic>Phenotype</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Loy, Clement T, FRACP</creatorcontrib><creatorcontrib>Schofield, Peter R, Prof</creatorcontrib><creatorcontrib>Turner, Anne M, 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history of dementia. For most, the family history is due to genetically complex disease, where many genetic variations of small effect interact to increase risk of dementia. The lifetime risk of dementia for these families is about 20%, compared with 10% in the general population. A small proportion of families have an autosomal dominant family history of early-onset dementia, which is often due to mendelian disease, caused by a mutation in one of the dementia genes. Each family member has a 50% chance of inheriting the mutation, which confers a lifetime dementia risk of over 95%. In this Review, we focus on the evidence for, and the approach to, genetic testing in Alzheimer's disease ( APP , PSEN1 , and PSEN2 genes), frontotemporal dementia ( MAPT, GRN, C9ORF72 , and other genes), and other familial dementias. We conclude by discussing the practical aspects of genetic counselling.</abstract><cop>Kidlington</cop><pub>Elsevier Ltd</pub><pmid>23927914</pmid><doi>10.1016/S0140-6736(13)60630-3</doi><tpages>13</tpages></addata></record> |
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| subjects | Aged Alzheimer Disease - diagnosis Alzheimer Disease - genetics Alzheimer's disease Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Dementia Dementia - diagnosis Dementia - genetics Dementia disorders Family medical history General aspects Genes Genetic Counseling - methods Genetic diversity Genetic Linkage - genetics Genetic screening Genetic Testing Genetic Variation - genetics Genetics Health risk assessment Humans Internal Medicine Medical sciences Middle Aged Mutation Mutation - genetics Neurology Pedigree Phenotype |
| title | Genetics of dementia |
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