Neurobiology of Disease (Apr 2001)
Genetic Analysis of Synphilin-1 in Familial Parkinson's Disease
- M. Farrer,
- A. Destée,
- C. Levecque,
- A. Singleton,
- S. Engelender,
- E. Becquet,
- V. Mouroux,
- F. Richard,
- L. Defebvre,
- R. Crook,
- D. Hernandez,
- C.A. Ross,
- J. Hardy,
- P. Amouyel,
- M-C. Chartier-Harlin
Affiliations
- M. Farrer
- Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, 32224; Clinique Neurologique, CHRU, 59037, Lille Cedex, France; INSERM 508, Institut Pasteur de Lille, Rue du Pr Calmette, BP245, 59019, Lille Cedex, France; Departamento de Anatomia, Universidade Federal do Rio de Janeiro, Sala 16 Cidade Universitaria, Rio de Janeiro, RJ 21941-590, Brasil; Department of Psychiatry, Division of Neurobiology, John Hopkins University School of Medicine, Baltimore, Maryland, 21205
- A. Destée
- Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, 32224; Clinique Neurologique, CHRU, 59037, Lille Cedex, France; INSERM 508, Institut Pasteur de Lille, Rue du Pr Calmette, BP245, 59019, Lille Cedex, France; Departamento de Anatomia, Universidade Federal do Rio de Janeiro, Sala 16 Cidade Universitaria, Rio de Janeiro, RJ 21941-590, Brasil; Department of Psychiatry, Division of Neurobiology, John Hopkins University School of Medicine, Baltimore, Maryland, 21205
- C. Levecque
- Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, 32224; Clinique Neurologique, CHRU, 59037, Lille Cedex, France; INSERM 508, Institut Pasteur de Lille, Rue du Pr Calmette, BP245, 59019, Lille Cedex, France; Departamento de Anatomia, Universidade Federal do Rio de Janeiro, Sala 16 Cidade Universitaria, Rio de Janeiro, RJ 21941-590, Brasil; Department of Psychiatry, Division of Neurobiology, John Hopkins University School of Medicine, Baltimore, Maryland, 21205
- A. Singleton
- Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, 32224; Clinique Neurologique, CHRU, 59037, Lille Cedex, France; INSERM 508, Institut Pasteur de Lille, Rue du Pr Calmette, BP245, 59019, Lille Cedex, France; Departamento de Anatomia, Universidade Federal do Rio de Janeiro, Sala 16 Cidade Universitaria, Rio de Janeiro, RJ 21941-590, Brasil; Department of Psychiatry, Division of Neurobiology, John Hopkins University School of Medicine, Baltimore, Maryland, 21205
- S. Engelender
- Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, 32224; Clinique Neurologique, CHRU, 59037, Lille Cedex, France; INSERM 508, Institut Pasteur de Lille, Rue du Pr Calmette, BP245, 59019, Lille Cedex, France; Departamento de Anatomia, Universidade Federal do Rio de Janeiro, Sala 16 Cidade Universitaria, Rio de Janeiro, RJ 21941-590, Brasil; Department of Psychiatry, Division of Neurobiology, John Hopkins University School of Medicine, Baltimore, Maryland, 21205
- E. Becquet
- Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, 32224; Clinique Neurologique, CHRU, 59037, Lille Cedex, France; INSERM 508, Institut Pasteur de Lille, Rue du Pr Calmette, BP245, 59019, Lille Cedex, France; Departamento de Anatomia, Universidade Federal do Rio de Janeiro, Sala 16 Cidade Universitaria, Rio de Janeiro, RJ 21941-590, Brasil; Department of Psychiatry, Division of Neurobiology, John Hopkins University School of Medicine, Baltimore, Maryland, 21205
- V. Mouroux
- Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, 32224; Clinique Neurologique, CHRU, 59037, Lille Cedex, France; INSERM 508, Institut Pasteur de Lille, Rue du Pr Calmette, BP245, 59019, Lille Cedex, France; Departamento de Anatomia, Universidade Federal do Rio de Janeiro, Sala 16 Cidade Universitaria, Rio de Janeiro, RJ 21941-590, Brasil; Department of Psychiatry, Division of Neurobiology, John Hopkins University School of Medicine, Baltimore, Maryland, 21205
- F. Richard
- Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, 32224; Clinique Neurologique, CHRU, 59037, Lille Cedex, France; INSERM 508, Institut Pasteur de Lille, Rue du Pr Calmette, BP245, 59019, Lille Cedex, France; Departamento de Anatomia, Universidade Federal do Rio de Janeiro, Sala 16 Cidade Universitaria, Rio de Janeiro, RJ 21941-590, Brasil; Department of Psychiatry, Division of Neurobiology, John Hopkins University School of Medicine, Baltimore, Maryland, 21205
- L. Defebvre
- Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, 32224; Clinique Neurologique, CHRU, 59037, Lille Cedex, France; INSERM 508, Institut Pasteur de Lille, Rue du Pr Calmette, BP245, 59019, Lille Cedex, France; Departamento de Anatomia, Universidade Federal do Rio de Janeiro, Sala 16 Cidade Universitaria, Rio de Janeiro, RJ 21941-590, Brasil; Department of Psychiatry, Division of Neurobiology, John Hopkins University School of Medicine, Baltimore, Maryland, 21205
- R. Crook
- Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, 32224; Clinique Neurologique, CHRU, 59037, Lille Cedex, France; INSERM 508, Institut Pasteur de Lille, Rue du Pr Calmette, BP245, 59019, Lille Cedex, France; Departamento de Anatomia, Universidade Federal do Rio de Janeiro, Sala 16 Cidade Universitaria, Rio de Janeiro, RJ 21941-590, Brasil; Department of Psychiatry, Division of Neurobiology, John Hopkins University School of Medicine, Baltimore, Maryland, 21205
- D. Hernandez
- Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, 32224; Clinique Neurologique, CHRU, 59037, Lille Cedex, France; INSERM 508, Institut Pasteur de Lille, Rue du Pr Calmette, BP245, 59019, Lille Cedex, France; Departamento de Anatomia, Universidade Federal do Rio de Janeiro, Sala 16 Cidade Universitaria, Rio de Janeiro, RJ 21941-590, Brasil; Department of Psychiatry, Division of Neurobiology, John Hopkins University School of Medicine, Baltimore, Maryland, 21205
- C.A. Ross
- Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, 32224; Clinique Neurologique, CHRU, 59037, Lille Cedex, France; INSERM 508, Institut Pasteur de Lille, Rue du Pr Calmette, BP245, 59019, Lille Cedex, France; Departamento de Anatomia, Universidade Federal do Rio de Janeiro, Sala 16 Cidade Universitaria, Rio de Janeiro, RJ 21941-590, Brasil; Department of Psychiatry, Division of Neurobiology, John Hopkins University School of Medicine, Baltimore, Maryland, 21205
- J. Hardy
- Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, 32224; Clinique Neurologique, CHRU, 59037, Lille Cedex, France; INSERM 508, Institut Pasteur de Lille, Rue du Pr Calmette, BP245, 59019, Lille Cedex, France; Departamento de Anatomia, Universidade Federal do Rio de Janeiro, Sala 16 Cidade Universitaria, Rio de Janeiro, RJ 21941-590, Brasil; Department of Psychiatry, Division of Neurobiology, John Hopkins University School of Medicine, Baltimore, Maryland, 21205
- P. Amouyel
- Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, 32224; Clinique Neurologique, CHRU, 59037, Lille Cedex, France; INSERM 508, Institut Pasteur de Lille, Rue du Pr Calmette, BP245, 59019, Lille Cedex, France; Departamento de Anatomia, Universidade Federal do Rio de Janeiro, Sala 16 Cidade Universitaria, Rio de Janeiro, RJ 21941-590, Brasil; Department of Psychiatry, Division of Neurobiology, John Hopkins University School of Medicine, Baltimore, Maryland, 21205
- M-C. Chartier-Harlin
- Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, 32224; Clinique Neurologique, CHRU, 59037, Lille Cedex, France; INSERM 508, Institut Pasteur de Lille, Rue du Pr Calmette, BP245, 59019, Lille Cedex, France; Departamento de Anatomia, Universidade Federal do Rio de Janeiro, Sala 16 Cidade Universitaria, Rio de Janeiro, RJ 21941-590, Brasil; Department of Psychiatry, Division of Neurobiology, John Hopkins University School of Medicine, Baltimore, Maryland, 21205
- Journal volume & issue
-
Vol. 8,
no. 2
pp. 317 – 323
Abstract
α-Synuclein is present in Lewy bodies of patients with both sporadic and familial Parkinson's disease. However, pathogenic mutations Ala30Pro and Ala53Thr in α-synuclein are rare causes of disease. Synphilin-1 has been demonstrated to associate with α-synuclein and promote the formation of cytosolic inclusions in vitro. Two-point genetic linkage analysis of a dinucleotide repeat within the synphilin-1 gene initially implicated this locus as a cause of Parkinson's disease in three of nine families. However, subsequent haplotype, sequencing, and association analyses in these three families and an independent case-control series suggest that variability within the locus does not confer susceptibility to Parkinson's disease.
