Suggestive linkage to chromosome 19 in a large Cuban family with late‐onset Parkinson's disease
Identifieur interne : 001705 ( Main/Exploration ); précédent : 001704; suivant : 001706Suggestive linkage to chromosome 19 in a large Cuban family with late‐onset Parkinson's disease
Auteurs : Aida M. Bertoli-Avella [Pays-Bas, Cuba] ; Jose L. Giroud-Benitez [Cuba] ; Vincenzo Bonifati [Italie, Pays-Bas] ; Eduardo Alvarez-Gonzalez [Cuba] ; Luis Heredero-Baute [Cuba] ; Cornelia M. Van Duijn [Pays-Bas] ; Peter Heutink [Pays-Bas]Source :
- Movement Disorders [ 0885-3185 ] ; 2003-11.
English descriptors
- KwdEn :
Abstract
The identification of disease genes using family‐based approaches has provided important insights into the pathogenesis of Parkinson's disease (PD) demonstrating the importance of genetic studies on monogenic forms of the disease. We studied a large Cuban family with typical, late‐onset PD and probable autosomal dominant inheritance. Mean age at onset was 61.2 years (±12.53, 45–76). Other phenotypes such as essential tremor and atypical parkinsonism were observed in this family. We carried out a genome‐wide scan and linkage analyses. The genetic data were analyzed using a conservative model in which only patients with clinically definite or likely PD were considered affected, other phenotypes were regarded as “unknown.” Multipoint analyses yielded a maximum LOD of 2.26 between markers D19S221 and D19S840. Haplotype analysis showed a region on chromosome 19 shared by six of seven PD patients. The essential tremor phenotype and the atypical parkinsonism do not segregate with this haplotype, suggesting a different etiology. Our findings suggest the presence of a novel locus for PD on chromosome 19p13.3–q12. We propose that an oligogenic model with moderate contribution of two or three genes rather than a “pure” monogenic model might explain better the wide range in age at onset, the reduced penetrance and the phenotypical variability observed in PD families. © 2003 Movement Disorder Society
Url:
DOI: 10.1002/mds.10534
Affiliations:
- Cuba, Italie, Pays-Bas
- Hollande-Méridionale, Hollande-Septentrionale, Latium
- Amsterdam, Rome, Rotterdam
Links toward previous steps (curation, corpus...)
Le document en format XML
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We propose that an oligogenic model with moderate contribution of two or three genes rather than a “pure” monogenic model might explain better the wide range in age at onset, the reduced penetrance and the phenotypical variability observed in PD families. © 2003 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Cuba</li><li>Italie</li><li>Pays-Bas</li></country><region><li>Hollande-Méridionale</li><li>Hollande-Septentrionale</li><li>Latium</li></region><settlement><li>Amsterdam</li><li>Rome</li><li>Rotterdam</li></settlement></list><tree><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Bertoli Vella, Aida M" sort="Bertoli Vella, Aida M" uniqKey="Bertoli Vella A" first="Aida M." last="Bertoli-Avella">Aida M. Bertoli-Avella</name></region><name sortKey="Bertoli Vella, Aida M" sort="Bertoli Vella, Aida M" uniqKey="Bertoli Vella A" first="Aida M." last="Bertoli-Avella">Aida M. 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Bertoli-Avella</name></noRegion><name sortKey="Alvarez Onzalez, Eduardo" sort="Alvarez Onzalez, Eduardo" uniqKey="Alvarez Onzalez E" first="Eduardo" last="Alvarez-Gonzalez">Eduardo Alvarez-Gonzalez</name><name sortKey="Giroud Enitez, Jose L" sort="Giroud Enitez, Jose L" uniqKey="Giroud Enitez J" first="Jose L." last="Giroud-Benitez">Jose L. Giroud-Benitez</name><name sortKey="Heredero Aute, Luis" sort="Heredero Aute, Luis" uniqKey="Heredero Aute L" first="Luis" last="Heredero-Baute">Luis Heredero-Baute</name></country><country name="Italie"><region name="Latium"><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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