Complex segregation analysis of Parkinson's disease: The Mayo Clinic Family Study
Identifieur interne : 000149 ( France/Analysis ); précédent : 000148; suivant : 000150Complex segregation analysis of Parkinson's disease: The Mayo Clinic Family Study
Auteurs : Shannon K. Mcdonnell [États-Unis] ; Daniel J. Schaid [États-Unis] ; Alexis Elbaz [États-Unis, France] ; Kari J. Strain [États-Unis] ; James H. Bower [États-Unis] ; J. Eric Ahlskog [États-Unis] ; Demetrius M. Maraganore [États-Unis] ; Walter A. Rocca [États-Unis]Source :
- Annals of Neurology [ 0364-5134 ] ; 2006-05.
Abstract
Objective: To conduct complex segregation analyses of Parkinson's disease (PD). Methods: Data on the familial aggregation of PD remain conflicting. We conducted a historical cohort study of 1,234 relatives of 162 patients with PD representative of people of Olmsted County, MN, and of 3,009 relatives of 411 patients with PD referred to the Mayo Clinic. Relatives were interviewed and screened for parkinsonism either directly or through a proxy, those who screened positive were examined, or a copy of their medical record was obtained to confirm the diagnosis. For subjects who resided in Olmsted County, additional information was obtained from the archives of the Olmsted County Historical Society and from a records‐linkage system. Results: Thirty‐two relatives of population‐based probands and 69 relatives of referral patients developed PD (101 in total). Combining population‐based and referral samples, the model that best explained the familial clustering of PD overall was a major gene with additive effect on the penetrance. This model predicted an average decrease in age at onset of PD of approximately 18 years for each copy of the putative high‐risk allele. The best fitting model for younger onset PD (age ≤ 59 years) was an autosomal recessive model. The best fitting models for older onset PD (age > 59 years) were a recessive or an additive model. Interpretation: The familial aggregation of PD may be explained in part by a major gene with additive effect on the penetrance. Ann Neurol 2006;59:788–795
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DOI: 10.1002/ana.20844
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Eric Ahlskog</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Minnesota</region></placeName><wicri:cityArea>Department of Neurology, Mayo Clinic College of Medicine, Rochester</wicri:cityArea></affiliation></author><author><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Minnesota</region></placeName><wicri:cityArea>Department of Neurology, Mayo Clinic College of Medicine, Rochester</wicri:cityArea></affiliation></author><author><name sortKey="Rocca, Walter A" sort="Rocca, Walter A" uniqKey="Rocca W" first="Walter A." last="Rocca">Walter A. 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Methods: Data on the familial aggregation of PD remain conflicting. We conducted a historical cohort study of 1,234 relatives of 162 patients with PD representative of people of Olmsted County, MN, and of 3,009 relatives of 411 patients with PD referred to the Mayo Clinic. Relatives were interviewed and screened for parkinsonism either directly or through a proxy, those who screened positive were examined, or a copy of their medical record was obtained to confirm the diagnosis. For subjects who resided in Olmsted County, additional information was obtained from the archives of the Olmsted County Historical Society and from a records‐linkage system. Results: Thirty‐two relatives of population‐based probands and 69 relatives of referral patients developed PD (101 in total). Combining population‐based and referral samples, the model that best explained the familial clustering of PD overall was a major gene with additive effect on the penetrance. This model predicted an average decrease in age at onset of PD of approximately 18 years for each copy of the putative high‐risk allele. The best fitting model for younger onset PD (age ≤ 59 years) was an autosomal recessive model. The best fitting models for older onset PD (age > 59 years) were a recessive or an additive model. Interpretation: The familial aggregation of PD may be explained in part by a major gene with additive effect on the penetrance. Ann Neurol 2006;59:788–795</div></front></TEI><affiliations><list><country><li>France</li><li>États-Unis</li></country><region><li>Minnesota</li></region><settlement><li>Paris</li></settlement></list><tree><country name="États-Unis"><region name="Minnesota"><name sortKey="Mcdonnell, Shannon K" sort="Mcdonnell, Shannon K" uniqKey="Mcdonnell S" first="Shannon K." last="Mcdonnell">Shannon K. Mcdonnell</name></region><name sortKey="Ahlskog, J Eric" sort="Ahlskog, J Eric" uniqKey="Ahlskog J" first="J. Eric" last="Ahlskog">J. Eric Ahlskog</name><name sortKey="Bower, James H" sort="Bower, James H" uniqKey="Bower J" first="James H." last="Bower">James H. Bower</name><name sortKey="Elbaz, Alexis" sort="Elbaz, Alexis" uniqKey="Elbaz A" first="Alexis" last="Elbaz">Alexis Elbaz</name><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name><name sortKey="Rocca, Walter A" sort="Rocca, Walter A" uniqKey="Rocca W" first="Walter A." last="Rocca">Walter A. Rocca</name><name sortKey="Rocca, Walter A" sort="Rocca, Walter A" uniqKey="Rocca W" first="Walter A." last="Rocca">Walter A. Rocca</name><name sortKey="Schaid, Daniel J" sort="Schaid, Daniel J" uniqKey="Schaid D" first="Daniel J." last="Schaid">Daniel J. Schaid</name><name sortKey="Strain, Kari J" sort="Strain, Kari J" uniqKey="Strain K" first="Kari J." last="Strain">Kari J. Strain</name></country><country name="France"><noRegion><name sortKey="Elbaz, Alexis" sort="Elbaz, Alexis" uniqKey="Elbaz A" first="Alexis" last="Elbaz">Alexis Elbaz</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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