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- Title
Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease.
- Authors
Aida M. Bertoli-Avella; Jose L. Giroud-Benitez; Vincenzo Bonifati; Eduardo Alvarez-Gonzalez; Luis Heredero-Baute; Cornelia M. Van Duijn; Peter Heutink
- 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, 4576). 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 19p13.3q12. 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
- Subjects
MEDICAL genetics; PARKINSON'S disease; GENETICS; CHROMOSOMES; TREMOR; PHENOTYPES
- Publication
Movement Disorders, 2003, Vol 18, Issue 11, p1240
- ISSN
0885-3185
- Publication type
Article
- DOI
10.1002/mds.10534