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Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation
Background Early‐onset familial Alzheimer's disease (EOFAD) is linked to mutations in three autosomal dominant genes: PS1, PS2 and APP. The clinical presentation and age of onset of mutations is variable. Objectives The aim of this report is to describe a novel PS1 mutation believed to be causa...
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| Published in: | International journal of geriatric psychiatry 2002-07, Vol.17 (7), p.649-651 |
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| Main Authors: | , , , , |
| Format: | Article |
| Language: | English |
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| cites | cdi_FETCH-LOGICAL-c4127-db67c683e2ded9b23056c13fc955d023ecaeb56733d2d8cf08d1c8cbc080b2613 |
| container_end_page | 651 |
| container_issue | 7 |
| container_start_page | 649 |
| container_title | International journal of geriatric psychiatry |
| container_volume | 17 |
| creator | Goldman, Jill S. Reed, Bruce Gearhart, Rosalie Kramer, Joel H. Miller, Bruce L. |
| description | Background
Early‐onset familial Alzheimer's disease (EOFAD) is linked to mutations in three autosomal dominant genes: PS1, PS2 and APP. The clinical presentation and age of onset of mutations is variable.
Objectives
The aim of this report is to describe a novel PS1 mutation believed to be causal for a very early onset of AD.
Methods
This is a case history using information from medical records, relative interviews and genetic testing results to describe the pre‐clinical prodrome and clinical course of a patient with EOFAD.
Results
A previously undescribed G206V mutation in PS1 was found in the proband.
Conclusion
The G206V mutation in PS1 is probably causal of a case of EOFAD with significant premorbid features. Copyright © 2002 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/gps.657 |
| format | article |
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Early‐onset familial Alzheimer's disease (EOFAD) is linked to mutations in three autosomal dominant genes: PS1, PS2 and APP. The clinical presentation and age of onset of mutations is variable.
Objectives
The aim of this report is to describe a novel PS1 mutation believed to be causal for a very early onset of AD.
Methods
This is a case history using information from medical records, relative interviews and genetic testing results to describe the pre‐clinical prodrome and clinical course of a patient with EOFAD.
Results
A previously undescribed G206V mutation in PS1 was found in the proband.
Conclusion
The G206V mutation in PS1 is probably causal of a case of EOFAD with significant premorbid features. Copyright © 2002 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0885-6230</identifier><identifier>EISSN: 1099-1166</identifier><identifier>DOI: 10.1002/gps.657</identifier><identifier>PMID: 12112163</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Adult ; Age of Onset ; Alzheimer Disease - genetics ; Alzheimer's disease ; Biological and medical sciences ; Cholinergic system ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; EOFAD ; Genetic Predisposition to Disease - genetics ; Humans ; Male ; Medical sciences ; Membrane Proteins - genetics ; Mutation ; Neurology ; Neuropharmacology ; Neurotransmitters. Neurotransmission. Receptors ; Pedigree ; Pharmacology. Drug treatments ; premorbid symptoms ; Presenilin-1</subject><ispartof>International journal of geriatric psychiatry, 2002-07, Vol.17 (7), p.649-651</ispartof><rights>Copyright © 2002 John Wiley & Sons, Ltd.</rights><rights>2002 INIST-CNRS</rights><rights>Copyright 2002 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4127-db67c683e2ded9b23056c13fc955d023ecaeb56733d2d8cf08d1c8cbc080b2613</citedby><cites>FETCH-LOGICAL-c4127-db67c683e2ded9b23056c13fc955d023ecaeb56733d2d8cf08d1c8cbc080b2613</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13771634$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12112163$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Goldman, Jill S.</creatorcontrib><creatorcontrib>Reed, Bruce</creatorcontrib><creatorcontrib>Gearhart, Rosalie</creatorcontrib><creatorcontrib>Kramer, Joel H.</creatorcontrib><creatorcontrib>Miller, Bruce L.</creatorcontrib><title>Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation</title><title>International journal of geriatric psychiatry</title><addtitle>Int. J. Geriat. Psychiatry</addtitle><description>Background
Early‐onset familial Alzheimer's disease (EOFAD) is linked to mutations in three autosomal dominant genes: PS1, PS2 and APP. The clinical presentation and age of onset of mutations is variable.
Objectives
The aim of this report is to describe a novel PS1 mutation believed to be causal for a very early onset of AD.
Methods
This is a case history using information from medical records, relative interviews and genetic testing results to describe the pre‐clinical prodrome and clinical course of a patient with EOFAD.
Results
A previously undescribed G206V mutation in PS1 was found in the proband.
Conclusion
The G206V mutation in PS1 is probably causal of a case of EOFAD with significant premorbid features. Copyright © 2002 John Wiley & Sons, Ltd.</description><subject>Adult</subject><subject>Age of Onset</subject><subject>Alzheimer Disease - genetics</subject><subject>Alzheimer's disease</subject><subject>Biological and medical sciences</subject><subject>Cholinergic system</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>EOFAD</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Neuropharmacology</subject><subject>Neurotransmitters. Neurotransmission. Receptors</subject><subject>Pedigree</subject><subject>Pharmacology. Drug treatments</subject><subject>premorbid symptoms</subject><subject>Presenilin-1</subject><issn>0885-6230</issn><issn>1099-1166</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><recordid>eNqF0F1rFDEUgOEgil2r-A8kN9oLmZqPnSTjXbvYrbBUwa_LkEnOaDQzs-bMquuvb8os7ZUIgVzk4ZzwEvKUs1POmHj1dYunqtb3yIKzpqk4V-o-WTBj6koJyY7II8TvjJU3bh6SIy54OUouyOYz5D0Fl9O-GgeEiXaujym6RM_S328Qe8gnSENEcAivqaPD-AsS3WZAGAocKKf9bnJTHIfH5EHnEsKTw31MPl28-bi6rDbv1m9XZ5vKL7nQVWiV9spIEAFC05b_1cpz2fmmrgMTEryDtlZayiCC8R0zgXvjW88Ma4Xi8pi8mOdu8_hzBzjZPqKHlNwA4w6t5sZoxvV_YcnAzLK5gScz9HlEzNDZbY69y3vLmb0pbEthWwoX-ewwctf2EO7cIWkBzw_AoXepy27wEe-c1LqwZXEvZ_c7Jtj_a59dv_8wr61mHXGCP7fa5R-2hNK1_XK1tiuzFub8wthzeQ22-p-D</recordid><startdate>200207</startdate><enddate>200207</enddate><creator>Goldman, Jill S.</creator><creator>Reed, Bruce</creator><creator>Gearhart, Rosalie</creator><creator>Kramer, Joel H.</creator><creator>Miller, Bruce L.</creator><general>John Wiley & Sons, Ltd</general><general>Wiley</general><scope>BSCLL</scope><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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>200207</creationdate><title>Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation</title><author>Goldman, Jill S. ; Reed, Bruce ; Gearhart, Rosalie ; Kramer, Joel H. ; Miller, Bruce L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4127-db67c683e2ded9b23056c13fc955d023ecaeb56733d2d8cf08d1c8cbc080b2613</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Adult</topic><topic>Age of Onset</topic><topic>Alzheimer Disease - genetics</topic><topic>Alzheimer's disease</topic><topic>Biological and medical sciences</topic><topic>Cholinergic system</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>EOFAD</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Membrane Proteins - genetics</topic><topic>Mutation</topic><topic>Neurology</topic><topic>Neuropharmacology</topic><topic>Neurotransmitters. Neurotransmission. Receptors</topic><topic>Pedigree</topic><topic>Pharmacology. Drug treatments</topic><topic>premorbid symptoms</topic><topic>Presenilin-1</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Goldman, Jill S.</creatorcontrib><creatorcontrib>Reed, Bruce</creatorcontrib><creatorcontrib>Gearhart, Rosalie</creatorcontrib><creatorcontrib>Kramer, Joel H.</creatorcontrib><creatorcontrib>Miller, Bruce L.</creatorcontrib><collection>Istex</collection><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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>International journal of geriatric psychiatry</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Goldman, Jill S.</au><au>Reed, Bruce</au><au>Gearhart, Rosalie</au><au>Kramer, Joel H.</au><au>Miller, Bruce L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation</atitle><jtitle>International journal of geriatric psychiatry</jtitle><addtitle>Int. J. Geriat. Psychiatry</addtitle><date>2002-07</date><risdate>2002</risdate><volume>17</volume><issue>7</issue><spage>649</spage><epage>651</epage><pages>649-651</pages><issn>0885-6230</issn><eissn>1099-1166</eissn><abstract>Background
Early‐onset familial Alzheimer's disease (EOFAD) is linked to mutations in three autosomal dominant genes: PS1, PS2 and APP. The clinical presentation and age of onset of mutations is variable.
Objectives
The aim of this report is to describe a novel PS1 mutation believed to be causal for a very early onset of AD.
Methods
This is a case history using information from medical records, relative interviews and genetic testing results to describe the pre‐clinical prodrome and clinical course of a patient with EOFAD.
Results
A previously undescribed G206V mutation in PS1 was found in the proband.
Conclusion
The G206V mutation in PS1 is probably causal of a case of EOFAD with significant premorbid features. Copyright © 2002 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>12112163</pmid><doi>10.1002/gps.657</doi><tpages>3</tpages></addata></record> |
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| ispartof | International journal of geriatric psychiatry, 2002-07, Vol.17 (7), p.649-651 |
| issn | 0885-6230 1099-1166 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_71887017 |
| source | Wiley-Blackwell Read & Publish Collection |
| subjects | Adult Age of Onset Alzheimer Disease - genetics Alzheimer's disease Biological and medical sciences Cholinergic system Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases EOFAD Genetic Predisposition to Disease - genetics Humans Male Medical sciences Membrane Proteins - genetics Mutation Neurology Neuropharmacology Neurotransmitters. Neurotransmission. Receptors Pedigree Pharmacology. Drug treatments premorbid symptoms Presenilin-1 |
| title | Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation |
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