The PARK8 locus in autosomal dominant Parkinsonism: Confirmation of linkage and further delineation of the disease-containing interval
Identifieur interne : 002C96 ( Main/Exploration ); précédent : 002C95; suivant : 002C97The PARK8 locus in autosomal dominant Parkinsonism: Confirmation of linkage and further delineation of the disease-containing interval
Auteurs : Alexander Zimprich [Allemagne] ; Bertram Müller-Myhsok [États-Unis] ; Matthew Farrer [États-Unis] ; Petra Leitner [Allemagne] ; Manu Sharma [Allemagne] ; Mary Hulihan [États-Unis] ; Paul Lockhart [États-Unis] ; Audrey Strongosky [États-Unis] ; Jennifer Kachergus [États-Unis] ; Donald B. Calne [Canada] ; Jon Stoessl [Canada] ; Ryan J. Uitti [États-Unis] ; Ronald F. Pfeiffer [États-Unis] ; Claudia Trenkwalder [Allemagne] ; Nikolaus Homann [Autriche] ; Erwin Ott [Autriche] ; Karoline Wenzel [Autriche] ; Friedrich Asmus [Allemagne] ; John Hardy [Royaume-Uni] ; Zbigniew Wszolek [États-Unis] ; Thomas Gasser [Allemagne]Source :
- American journal of human genetics [ 0002-9297 ] ; 2004.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
Abstract
Recently, a new locus (PARK8) for autosomal dominant parkinsonism has been identified in one large Japanese family. Linkage has been shown to a 16-cM centromeric region of chromosome 12, between markers D12S1631 and D12S339. We tested 21 white families with Parkinson disease and an inheritance pattern compatible with autosomal dominant transmission for linkage in this region. Criteria for inclusion were at least three affected individuals in more than one generation. A total of 29 markers were used to saturate the candidate region. One hundred sixty-seven family members were tested (84 affected and 83 unaffected). Under the assumption of heterogeneity and through use of an affecteds-only model, a maximum multipoint LOD score of 2.01 was achieved in the total sample, with an estimated proportion of families with linkage of 0.32. This LOD score is significant for linkage in a replication study and corresponds to a P value of .0047. Two families (family A [German Canadian] and family D [from western Nebraska]) reached significant linkage on their own, with a combined maximum multipoint LOD score of 3.33, calculated with an affecteds-only model (family A: LOD score 1.67, P = .0028; family D: LOD score 1.67, P = .0028). When a penetrance-dependent model was calculated, the combined multipoint LOD score achieved was 3.92 (family A: LOD score 1.68, P = .0027; family D: LOD score 2.24, P = .0007). On the basis of the multipoint analysis for the combined families A and D, the 1-LOD support interval suggests that the most likely disease location is between a CA repeat polymorphism on genomic clone AC025253 (44.5 Mb) and marker D12S1701 (47.7 Mb). Our data provide evidence that the PARK8 locus is responsible for the disease in a subset of families of white ancestry with autosomal dominant parkinsonism, suggesting that it could be a more common locus.
Affiliations:
- Allemagne, Autriche, Canada, Royaume-Uni, États-Unis
- Bade-Wurtemberg, Bavière, District de Haute-Bavière, District de Tübingen
- Munich, Tübingen
Links toward previous steps (curation, corpus...)
- to stream PascalFrancis, to step Corpus: 000997
- to stream PascalFrancis, to step Curation: 000326
- to stream PascalFrancis, to step Checkpoint: 000837
- to stream Main, to step Merge: 003059
- to stream Main, to step Curation: 002C96
Le document en format XML
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Neuroscience, Mayo Clinic Jacksonville</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author><author><name sortKey="Strongosky, Audrey" sort="Strongosky, Audrey" uniqKey="Strongosky A" first="Audrey" last="Strongosky">Audrey Strongosky</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Departments of Neurology and Neuroscience, Mayo Clinic Jacksonville</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author><author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name><affiliation 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Calne</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>The Pacific Parkinson's Research Centre, University Hospital</s1><s2>Vancouver</s2><s3>CAN</s3><sZ>10 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Stoessl, Jon" sort="Stoessl, Jon" uniqKey="Stoessl J" first="Jon" last="Stoessl">Jon Stoessl</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, University of British Columbia</s1><s2>Vancouver</s2><s3>CAN</s3><sZ>11 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. 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Pfeiffer</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, University of Tennessee Health Science Center</s1><s2>Memphis</s2><s3>USA</s3><sZ>13 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Memphis</wicri:noRegion></affiliation></author><author><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Clinical Neurophysiology, University of Goettingen</s1><s2>Goettingen</s2><s3>DEU</s3><sZ>14 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Goettingen</wicri:noRegion><wicri:noRegion>University of Goettingen</wicri:noRegion><wicri:noRegion>Goettingen</wicri:noRegion></affiliation></author><author><name sortKey="Homann, Nikolaus" sort="Homann, Nikolaus" uniqKey="Homann N" first="Nikolaus" last="Homann">Nikolaus Homann</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Neurology, University Hospital Graz, Karl-Franzens-University</s1><s2>Graz</s2><s3>AUT</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Autriche</country><wicri:noRegion>Graz</wicri:noRegion></affiliation></author><author><name sortKey="Ott, Erwin" sort="Ott, Erwin" uniqKey="Ott E" first="Erwin" last="Ott">Erwin Ott</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Neurology, University Hospital Graz, Karl-Franzens-University</s1><s2>Graz</s2><s3>AUT</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Autriche</country><wicri:noRegion>Graz</wicri:noRegion></affiliation></author><author><name sortKey="Wenzel, Karoline" sort="Wenzel, Karoline" uniqKey="Wenzel K" first="Karoline" last="Wenzel">Karoline Wenzel</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Neurology, University Hospital Graz, Karl-Franzens-University</s1><s2>Graz</s2><s3>AUT</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Autriche</country><wicri:noRegion>Graz</wicri:noRegion></affiliation></author><author><name sortKey="Asmus, Friedrich" sort="Asmus, Friedrich" uniqKey="Asmus F" first="Friedrich" last="Asmus">Friedrich Asmus</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Hertie-Institute for Clinical Brain Research, Department for Neurodegenerative Diseases, University of Tuebingen</s1><s2>Tuebingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>18 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda</s2><s3>GBR</s3><sZ>19 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Bethesda</wicri:noRegion></affiliation></author><author><name sortKey="Wszolek, Zbigniew" sort="Wszolek, Zbigniew" uniqKey="Wszolek Z" first="Zbigniew" last="Wszolek">Zbigniew Wszolek</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Departments of Neurology and Neuroscience, Mayo Clinic Jacksonville</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Hertie-Institute for Clinical Brain Research, Department for Neurodegenerative Diseases, University of Tuebingen</s1><s2>Tuebingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>18 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">04-0331147</idno><date when="2004">2004</date><idno type="stanalyst">PASCAL 04-0331147 INIST</idno><idno type="RBID">Pascal:04-0331147</idno><idno type="wicri:Area/PascalFrancis/Corpus">000997</idno><idno type="wicri:Area/PascalFrancis/Curation">000326</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000837</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000837</idno><idno 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type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Muller Myhsok, Bertram" sort="Muller Myhsok, Bertram" uniqKey="Muller Myhsok B" first="Bertram" last="Müller-Myhsok">Bertram Müller-Myhsok</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Max-Planck-Institute of Psychiatry</s1><s2>Munich</s2><s3>USA</s3><sZ>2 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Munich</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region></placeName></affiliation></author><author><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Departments of Neurology and Neuroscience, Mayo Clinic Jacksonville</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author><author><name sortKey="Leitner, Petra" sort="Leitner, Petra" uniqKey="Leitner P" first="Petra" last="Leitner">Petra Leitner</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Hertie-Institute for Clinical Brain Research, Department for Neurodegenerative Diseases, University of Tuebingen</s1><s2>Tuebingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>18 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Hertie-Institute for Clinical Brain Research, Department for Neurodegenerative Diseases, University of Tuebingen</s1><s2>Tuebingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>18 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Hulihan, Mary" sort="Hulihan, Mary" uniqKey="Hulihan M" first="Mary" last="Hulihan">Mary Hulihan</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Departments of Neurology and Neuroscience, Mayo Clinic Jacksonville</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author><author><name sortKey="Lockhart, Paul" sort="Lockhart, Paul" uniqKey="Lockhart P" first="Paul" last="Lockhart">Paul Lockhart</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Departments of Neurology and Neuroscience, Mayo Clinic Jacksonville</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author><author><name sortKey="Strongosky, Audrey" sort="Strongosky, Audrey" uniqKey="Strongosky A" first="Audrey" last="Strongosky">Audrey Strongosky</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Departments of Neurology and Neuroscience, Mayo Clinic Jacksonville</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author><author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Departments of Neurology and Neuroscience, Mayo Clinic Jacksonville</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author><author><name sortKey="Calne, Donald B" sort="Calne, Donald B" uniqKey="Calne D" first="Donald B." last="Calne">Donald B. Calne</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>The Pacific Parkinson's Research Centre, University Hospital</s1><s2>Vancouver</s2><s3>CAN</s3><sZ>10 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Stoessl, Jon" sort="Stoessl, Jon" uniqKey="Stoessl J" first="Jon" last="Stoessl">Jon Stoessl</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, University of British Columbia</s1><s2>Vancouver</s2><s3>CAN</s3><sZ>11 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Departments of Neurology and Neuroscience, Mayo Clinic Jacksonville</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author><author><name sortKey="Pfeiffer, Ronald F" sort="Pfeiffer, Ronald F" uniqKey="Pfeiffer R" first="Ronald F." last="Pfeiffer">Ronald F. Pfeiffer</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, University of Tennessee Health Science Center</s1><s2>Memphis</s2><s3>USA</s3><sZ>13 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Memphis</wicri:noRegion></affiliation></author><author><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Clinical Neurophysiology, University of Goettingen</s1><s2>Goettingen</s2><s3>DEU</s3><sZ>14 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Goettingen</wicri:noRegion><wicri:noRegion>University of Goettingen</wicri:noRegion><wicri:noRegion>Goettingen</wicri:noRegion></affiliation></author><author><name sortKey="Homann, Nikolaus" sort="Homann, Nikolaus" uniqKey="Homann N" first="Nikolaus" last="Homann">Nikolaus Homann</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Neurology, University Hospital Graz, Karl-Franzens-University</s1><s2>Graz</s2><s3>AUT</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Autriche</country><wicri:noRegion>Graz</wicri:noRegion></affiliation></author><author><name sortKey="Ott, Erwin" sort="Ott, Erwin" uniqKey="Ott E" first="Erwin" last="Ott">Erwin Ott</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Neurology, University Hospital Graz, Karl-Franzens-University</s1><s2>Graz</s2><s3>AUT</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Autriche</country><wicri:noRegion>Graz</wicri:noRegion></affiliation></author><author><name sortKey="Wenzel, Karoline" sort="Wenzel, Karoline" uniqKey="Wenzel K" first="Karoline" last="Wenzel">Karoline Wenzel</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Neurology, University Hospital Graz, Karl-Franzens-University</s1><s2>Graz</s2><s3>AUT</s3><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Autriche</country><wicri:noRegion>Graz</wicri:noRegion></affiliation></author><author><name sortKey="Asmus, Friedrich" sort="Asmus, Friedrich" uniqKey="Asmus F" first="Friedrich" last="Asmus">Friedrich Asmus</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Hertie-Institute for Clinical Brain Research, Department for Neurodegenerative Diseases, University of Tuebingen</s1><s2>Tuebingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>18 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda</s2><s3>GBR</s3><sZ>19 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Bethesda</wicri:noRegion></affiliation></author><author><name sortKey="Wszolek, Zbigniew" sort="Wszolek, Zbigniew" uniqKey="Wszolek Z" first="Zbigniew" last="Wszolek">Zbigniew Wszolek</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Departments of Neurology and Neuroscience, Mayo Clinic Jacksonville</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Hertie-Institute for Clinical Brain Research, Department for Neurodegenerative Diseases, University of Tuebingen</s1><s2>Tuebingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>18 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author></analytic><series><title level="j" type="main">American journal of human genetics</title><title level="j" type="abbreviated">Am. j. hum. genet.</title><idno type="ISSN">0002-9297</idno><imprint><date when="2004">2004</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">American journal of human genetics</title><title level="j" type="abbreviated">Am. j. hum. genet.</title><idno type="ISSN">0002-9297</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autosomal character</term><term>Dominant character</term><term>Genetic determinism</term><term>Genetic disease</term><term>Genetic linkage</term><term>Genetics</term><term>Human</term><term>Interval</term><term>Locus</term><term>Parkinsonism</term><term>Pathogenesis</term><term>Phenotype</term><term>Symptomatology</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term><term>Locus</term><term>Caractère autosomique</term><term>Maladie héréditaire</term><term>Caractère dominant</term><term>Liaison génétique</term><term>Déterminisme génétique</term><term>Pathogénie</term><term>Symptomatologie</term><term>Phénotype</term><term>Intervalle</term><term>Génétique</term><term>Homme</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Recently, a new locus (PARK8) for autosomal dominant parkinsonism has been identified in one large Japanese family. Linkage has been shown to a 16-cM centromeric region of chromosome 12, between markers D12S1631 and D12S339. We tested 21 white families with Parkinson disease and an inheritance pattern compatible with autosomal dominant transmission for linkage in this region. Criteria for inclusion were at least three affected individuals in more than one generation. A total of 29 markers were used to saturate the candidate region. One hundred sixty-seven family members were tested (84 affected and 83 unaffected). Under the assumption of heterogeneity and through use of an affecteds-only model, a maximum multipoint LOD score of 2.01 was achieved in the total sample, with an estimated proportion of families with linkage of 0.32. This LOD score is significant for linkage in a replication study and corresponds to a P value of .0047. Two families (family A [German Canadian] and family D [from western Nebraska]) reached significant linkage on their own, with a combined maximum multipoint LOD score of 3.33, calculated with an affecteds-only model (family A: LOD score 1.67, P = .0028; family D: LOD score 1.67, P = .0028). When a penetrance-dependent model was calculated, the combined multipoint LOD score achieved was 3.92 (family A: LOD score 1.68, P = .0027; family D: LOD score 2.24, P = .0007). On the basis of the multipoint analysis for the combined families A and D, the 1-LOD support interval suggests that the most likely disease location is between a CA repeat polymorphism on genomic clone AC025253 (44.5 Mb) and marker D12S1701 (47.7 Mb). Our data provide evidence that the PARK8 locus is responsible for the disease in a subset of families of white ancestry with autosomal dominant parkinsonism, suggesting that it could be a more common locus.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Autriche</li><li>Canada</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Bade-Wurtemberg</li><li>Bavière</li><li>District de Haute-Bavière</li><li>District de Tübingen</li></region><settlement><li>Munich</li><li>Tübingen</li></settlement></list><tree><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name></region><name sortKey="Asmus, Friedrich" sort="Asmus, Friedrich" uniqKey="Asmus F" first="Friedrich" last="Asmus">Friedrich Asmus</name><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><name sortKey="Leitner, Petra" sort="Leitner, Petra" uniqKey="Leitner P" first="Petra" last="Leitner">Petra Leitner</name><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name></country><country name="États-Unis"><region name="Bavière"><name sortKey="Muller Myhsok, Bertram" sort="Muller Myhsok, Bertram" uniqKey="Muller Myhsok B" first="Bertram" last="Müller-Myhsok">Bertram Müller-Myhsok</name></region><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name><name sortKey="Hulihan, Mary" sort="Hulihan, Mary" uniqKey="Hulihan M" first="Mary" last="Hulihan">Mary Hulihan</name><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name><name sortKey="Lockhart, Paul" sort="Lockhart, Paul" uniqKey="Lockhart P" first="Paul" last="Lockhart">Paul Lockhart</name><name sortKey="Pfeiffer, Ronald F" sort="Pfeiffer, Ronald F" uniqKey="Pfeiffer R" first="Ronald F." last="Pfeiffer">Ronald F. Pfeiffer</name><name sortKey="Strongosky, Audrey" sort="Strongosky, Audrey" uniqKey="Strongosky A" first="Audrey" last="Strongosky">Audrey Strongosky</name><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><name sortKey="Wszolek, Zbigniew" sort="Wszolek, Zbigniew" uniqKey="Wszolek Z" first="Zbigniew" last="Wszolek">Zbigniew Wszolek</name></country><country name="Canada"><noRegion><name sortKey="Calne, Donald B" sort="Calne, Donald B" uniqKey="Calne D" first="Donald B." last="Calne">Donald B. Calne</name></noRegion><name sortKey="Stoessl, Jon" sort="Stoessl, Jon" uniqKey="Stoessl J" first="Jon" last="Stoessl">Jon Stoessl</name></country><country name="Autriche"><noRegion><name sortKey="Homann, Nikolaus" sort="Homann, Nikolaus" uniqKey="Homann N" first="Nikolaus" last="Homann">Nikolaus Homann</name></noRegion><name sortKey="Ott, Erwin" sort="Ott, Erwin" uniqKey="Ott E" first="Erwin" last="Ott">Erwin Ott</name><name sortKey="Wenzel, Karoline" sort="Wenzel, Karoline" uniqKey="Wenzel K" first="Karoline" last="Wenzel">Karoline Wenzel</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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