Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation
A subset of early-onset Alzheimer's disease is inherited as an autosomal-dominant trait and is associated with mutations in the genes encoding β-amyloid precursor protein, presenilin 1, or presenilin 2. In this study, we identified 2 PSEN1 mutations (1 novel and 1 known) in 2 unrelated Iranian...
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| Veröffentlicht in: | Neurobiology of aging 2018-02, Vol.62, p.244.e15-244.e17 |
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| container_title | Neurobiology of aging |
| container_volume | 62 |
| creator | Wang, Jen-Chyong Alinaghi, Somayeh Tafakhori, Abbas Sikora, Elizabeth Azcona, Luis J. Karkheiran, Siamak Goate, Alison Paisán-Ruiz, Coro Darvish, Hossein |
| description | A subset of early-onset Alzheimer's disease is inherited as an autosomal-dominant trait and is associated with mutations in the genes encoding β-amyloid precursor protein, presenilin 1, or presenilin 2. In this study, we identified 2 PSEN1 mutations (1 novel and 1 known) in 2 unrelated Iranian families with autosomal-dominant Alzheimer's disease. The disease progressed rapidly with a mean age at onset of 33 and 42 years and an age at death ranging from 43 to 48 years. |
| doi_str_mv | 10.1016/j.neurobiolaging.2017.10.011 |
| format | Article |
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The disease progressed rapidly with a mean age at onset of 33 and 42 years and an age at death ranging from 43 to 48 years.</description><identifier>ISSN: 0197-4580</identifier><identifier>EISSN: 1558-1497</identifier><identifier>DOI: 10.1016/j.neurobiolaging.2017.10.011</identifier><identifier>PMID: 29175279</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adult ; Aged ; Alzheimer Disease - diagnosis ; Alzheimer Disease - genetics ; Disease Progression ; Early-onset Alzheimer's disease ; Female ; Genes, Dominant - genetics ; Genetic Association Studies ; Genetic Testing ; Humans ; Iran ; Male ; Middle Aged ; Mutation ; Presenilin-1 - genetics ; PSEN1 mutation ; Rapid disease progression</subject><ispartof>Neurobiology of aging, 2018-02, Vol.62, p.244.e15-244.e17</ispartof><rights>2017 Elsevier Inc.</rights><rights>Copyright © 2017 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c495t-ddd11476bbb4a78b966fa9d7984c4dfbf09b4ce3c6461a84c7ae45eaceb0aef73</citedby><cites>FETCH-LOGICAL-c495t-ddd11476bbb4a78b966fa9d7984c4dfbf09b4ce3c6461a84c7ae45eaceb0aef73</cites><orcidid>0000-0002-0576-2472</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.neurobiolaging.2017.10.011$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,780,784,885,3548,27923,27924,45994</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29175279$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wang, Jen-Chyong</creatorcontrib><creatorcontrib>Alinaghi, Somayeh</creatorcontrib><creatorcontrib>Tafakhori, Abbas</creatorcontrib><creatorcontrib>Sikora, Elizabeth</creatorcontrib><creatorcontrib>Azcona, Luis J.</creatorcontrib><creatorcontrib>Karkheiran, Siamak</creatorcontrib><creatorcontrib>Goate, Alison</creatorcontrib><creatorcontrib>Paisán-Ruiz, Coro</creatorcontrib><creatorcontrib>Darvish, Hossein</creatorcontrib><title>Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation</title><title>Neurobiology of aging</title><addtitle>Neurobiol Aging</addtitle><description>A subset of early-onset Alzheimer's disease is inherited as an autosomal-dominant trait and is associated with mutations in the genes encoding β-amyloid precursor protein, presenilin 1, or presenilin 2. 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The disease progressed rapidly with a mean age at onset of 33 and 42 years and an age at death ranging from 43 to 48 years.</description><subject>Adult</subject><subject>Aged</subject><subject>Alzheimer Disease - diagnosis</subject><subject>Alzheimer Disease - genetics</subject><subject>Disease Progression</subject><subject>Early-onset Alzheimer's disease</subject><subject>Female</subject><subject>Genes, Dominant - genetics</subject><subject>Genetic Association Studies</subject><subject>Genetic Testing</subject><subject>Humans</subject><subject>Iran</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Presenilin-1 - genetics</subject><subject>PSEN1 mutation</subject><subject>Rapid disease progression</subject><issn>0197-4580</issn><issn>1558-1497</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkVFrFDEUhYModq3-BcmDYF9mTXYzyQZEKKWthaKC-hwyyZ3du8wka5LZUn-9WbYW--ZTIOfccw_3I-QdZ3POuPywnQeYUuwwDnaNYT1fMK6qNGecPyMz3rarhgutnpMZ41o1ol2xE_Iq5y1jTAklX5KTheaqXSg9I7trCFDQ0ewSQKh5FAMtd5HeJBvQBtrbEQeETO-wbCjYNNw3MWQo9Hz4vQEcIb3P1GMGm4Gih1CwR_DU0hD3MNBv3y-_cDpOxRaM4TV50dshw5uH95T8vLr8cfG5uf16fXNxfts4odvSeO85r2W7rhNWrTotZW-1V3olnPB91zPdCQdLJ4Xktn4qC6IF66BjFnq1PCWfjrm7qRvBu1or2cHsEo423Zto0TxVAm7MOu5Nq8RSLkUNOHsISPHXBLmYEbODYbAB4pQN11LrhZZMVuvHo9WlmHOC_nENZ-YAzWzNU2jmAO2gVmh1_O2_VR-H_1KqhqujAerB9gjJZIcQHHhM4IrxEf9v0x8pHLWk</recordid><startdate>20180201</startdate><enddate>20180201</enddate><creator>Wang, Jen-Chyong</creator><creator>Alinaghi, Somayeh</creator><creator>Tafakhori, Abbas</creator><creator>Sikora, Elizabeth</creator><creator>Azcona, Luis J.</creator><creator>Karkheiran, Siamak</creator><creator>Goate, Alison</creator><creator>Paisán-Ruiz, Coro</creator><creator>Darvish, Hossein</creator><general>Elsevier Inc</general><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><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-0576-2472</orcidid></search><sort><creationdate>20180201</creationdate><title>Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation</title><author>Wang, Jen-Chyong ; 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| issn | 0197-4580 1558-1497 |
| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Adult Aged Alzheimer Disease - diagnosis Alzheimer Disease - genetics Disease Progression Early-onset Alzheimer's disease Female Genes, Dominant - genetics Genetic Association Studies Genetic Testing Humans Iran Male Middle Aged Mutation Presenilin-1 - genetics PSEN1 mutation Rapid disease progression |
| title | Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation |
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