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November 25, 2003; 61 (10) Brief Communications

Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism

P. Ibáñez, G. De Michele, V. Bonifati, E. Lohmann, S. Thobois, P. Pollak, Y. Agid, P. Heutink, A. Dürr, A. Brice, the French Parkinson’s Disease Genetics Study Group
First published November 24, 2003, DOI: https://doi.org/10.1212/01.WNL.0000094121.48373.FD
P. Ibáñez
From INSERM U289, Neurologie et Thérapeutique Expérimentale (P. Ibáñez, and Drs. Lohmann, Agid, Dürr, and Brice), and Département de Génétique, Cytogénétique et Embryologie (Drs. Dürr and Brice), Hôpital de la Pitié-Salpêtrière, Paris; Department of Neurological Sciences (Dr. De Michele), Università Federico II, Napoli, Italy; Genetic-Epidemiologic Unit (Drs. Bonifati and Heutink), Department of Clinical Genetics, Department of Epidemiology & Biostatistics, Erasmus Medical Center Rotterdam, the Netherlands; Department of Neurological Sciences (Dr. Bonifati), La Sapienza University, Rome, Italy; Fédération de Neurologie (Drs. Lohmann, Agid, Dürr, and Brice), CHU Pitié-Salpêtrière, Hôpital de la Salpêtrière, Paris, France; Neurological Department (Dr. Thobois), Service de Neurologie, Hôpital Pierre Wertheimer, Lyon, France; and Department of Clinical and Biological Neurosciences (Dr. Pollak), Service de Neurologie, Pavillon de Neurologie, CHU de Grenoble, France.
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G. De Michele
From INSERM U289, Neurologie et Thérapeutique Expérimentale (P. Ibáñez, and Drs. Lohmann, Agid, Dürr, and Brice), and Département de Génétique, Cytogénétique et Embryologie (Drs. Dürr and Brice), Hôpital de la Pitié-Salpêtrière, Paris; Department of Neurological Sciences (Dr. De Michele), Università Federico II, Napoli, Italy; Genetic-Epidemiologic Unit (Drs. Bonifati and Heutink), Department of Clinical Genetics, Department of Epidemiology & Biostatistics, Erasmus Medical Center Rotterdam, the Netherlands; Department of Neurological Sciences (Dr. Bonifati), La Sapienza University, Rome, Italy; Fédération de Neurologie (Drs. Lohmann, Agid, Dürr, and Brice), CHU Pitié-Salpêtrière, Hôpital de la Salpêtrière, Paris, France; Neurological Department (Dr. Thobois), Service de Neurologie, Hôpital Pierre Wertheimer, Lyon, France; and Department of Clinical and Biological Neurosciences (Dr. Pollak), Service de Neurologie, Pavillon de Neurologie, CHU de Grenoble, France.
MD
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V. Bonifati
From INSERM U289, Neurologie et Thérapeutique Expérimentale (P. Ibáñez, and Drs. Lohmann, Agid, Dürr, and Brice), and Département de Génétique, Cytogénétique et Embryologie (Drs. Dürr and Brice), Hôpital de la Pitié-Salpêtrière, Paris; Department of Neurological Sciences (Dr. De Michele), Università Federico II, Napoli, Italy; Genetic-Epidemiologic Unit (Drs. Bonifati and Heutink), Department of Clinical Genetics, Department of Epidemiology & Biostatistics, Erasmus Medical Center Rotterdam, the Netherlands; Department of Neurological Sciences (Dr. Bonifati), La Sapienza University, Rome, Italy; Fédération de Neurologie (Drs. Lohmann, Agid, Dürr, and Brice), CHU Pitié-Salpêtrière, Hôpital de la Salpêtrière, Paris, France; Neurological Department (Dr. Thobois), Service de Neurologie, Hôpital Pierre Wertheimer, Lyon, France; and Department of Clinical and Biological Neurosciences (Dr. Pollak), Service de Neurologie, Pavillon de Neurologie, CHU de Grenoble, France.
MD
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E. Lohmann
From INSERM U289, Neurologie et Thérapeutique Expérimentale (P. Ibáñez, and Drs. Lohmann, Agid, Dürr, and Brice), and Département de Génétique, Cytogénétique et Embryologie (Drs. Dürr and Brice), Hôpital de la Pitié-Salpêtrière, Paris; Department of Neurological Sciences (Dr. De Michele), Università Federico II, Napoli, Italy; Genetic-Epidemiologic Unit (Drs. Bonifati and Heutink), Department of Clinical Genetics, Department of Epidemiology & Biostatistics, Erasmus Medical Center Rotterdam, the Netherlands; Department of Neurological Sciences (Dr. Bonifati), La Sapienza University, Rome, Italy; Fédération de Neurologie (Drs. Lohmann, Agid, Dürr, and Brice), CHU Pitié-Salpêtrière, Hôpital de la Salpêtrière, Paris, France; Neurological Department (Dr. Thobois), Service de Neurologie, Hôpital Pierre Wertheimer, Lyon, France; and Department of Clinical and Biological Neurosciences (Dr. Pollak), Service de Neurologie, Pavillon de Neurologie, CHU de Grenoble, France.
MD
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S. Thobois
From INSERM U289, Neurologie et Thérapeutique Expérimentale (P. Ibáñez, and Drs. Lohmann, Agid, Dürr, and Brice), and Département de Génétique, Cytogénétique et Embryologie (Drs. Dürr and Brice), Hôpital de la Pitié-Salpêtrière, Paris; Department of Neurological Sciences (Dr. De Michele), Università Federico II, Napoli, Italy; Genetic-Epidemiologic Unit (Drs. Bonifati and Heutink), Department of Clinical Genetics, Department of Epidemiology & Biostatistics, Erasmus Medical Center Rotterdam, the Netherlands; Department of Neurological Sciences (Dr. Bonifati), La Sapienza University, Rome, Italy; Fédération de Neurologie (Drs. Lohmann, Agid, Dürr, and Brice), CHU Pitié-Salpêtrière, Hôpital de la Salpêtrière, Paris, France; Neurological Department (Dr. Thobois), Service de Neurologie, Hôpital Pierre Wertheimer, Lyon, France; and Department of Clinical and Biological Neurosciences (Dr. Pollak), Service de Neurologie, Pavillon de Neurologie, CHU de Grenoble, France.
MD
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P. Pollak
From INSERM U289, Neurologie et Thérapeutique Expérimentale (P. Ibáñez, and Drs. Lohmann, Agid, Dürr, and Brice), and Département de Génétique, Cytogénétique et Embryologie (Drs. Dürr and Brice), Hôpital de la Pitié-Salpêtrière, Paris; Department of Neurological Sciences (Dr. De Michele), Università Federico II, Napoli, Italy; Genetic-Epidemiologic Unit (Drs. Bonifati and Heutink), Department of Clinical Genetics, Department of Epidemiology & Biostatistics, Erasmus Medical Center Rotterdam, the Netherlands; Department of Neurological Sciences (Dr. Bonifati), La Sapienza University, Rome, Italy; Fédération de Neurologie (Drs. Lohmann, Agid, Dürr, and Brice), CHU Pitié-Salpêtrière, Hôpital de la Salpêtrière, Paris, France; Neurological Department (Dr. Thobois), Service de Neurologie, Hôpital Pierre Wertheimer, Lyon, France; and Department of Clinical and Biological Neurosciences (Dr. Pollak), Service de Neurologie, Pavillon de Neurologie, CHU de Grenoble, France.
MD
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Y. Agid
From INSERM U289, Neurologie et Thérapeutique Expérimentale (P. Ibáñez, and Drs. Lohmann, Agid, Dürr, and Brice), and Département de Génétique, Cytogénétique et Embryologie (Drs. Dürr and Brice), Hôpital de la Pitié-Salpêtrière, Paris; Department of Neurological Sciences (Dr. De Michele), Università Federico II, Napoli, Italy; Genetic-Epidemiologic Unit (Drs. Bonifati and Heutink), Department of Clinical Genetics, Department of Epidemiology & Biostatistics, Erasmus Medical Center Rotterdam, the Netherlands; Department of Neurological Sciences (Dr. Bonifati), La Sapienza University, Rome, Italy; Fédération de Neurologie (Drs. Lohmann, Agid, Dürr, and Brice), CHU Pitié-Salpêtrière, Hôpital de la Salpêtrière, Paris, France; Neurological Department (Dr. Thobois), Service de Neurologie, Hôpital Pierre Wertheimer, Lyon, France; and Department of Clinical and Biological Neurosciences (Dr. Pollak), Service de Neurologie, Pavillon de Neurologie, CHU de Grenoble, France.
MD
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P. Heutink
From INSERM U289, Neurologie et Thérapeutique Expérimentale (P. Ibáñez, and Drs. Lohmann, Agid, Dürr, and Brice), and Département de Génétique, Cytogénétique et Embryologie (Drs. Dürr and Brice), Hôpital de la Pitié-Salpêtrière, Paris; Department of Neurological Sciences (Dr. De Michele), Università Federico II, Napoli, Italy; Genetic-Epidemiologic Unit (Drs. Bonifati and Heutink), Department of Clinical Genetics, Department of Epidemiology & Biostatistics, Erasmus Medical Center Rotterdam, the Netherlands; Department of Neurological Sciences (Dr. Bonifati), La Sapienza University, Rome, Italy; Fédération de Neurologie (Drs. Lohmann, Agid, Dürr, and Brice), CHU Pitié-Salpêtrière, Hôpital de la Salpêtrière, Paris, France; Neurological Department (Dr. Thobois), Service de Neurologie, Hôpital Pierre Wertheimer, Lyon, France; and Department of Clinical and Biological Neurosciences (Dr. Pollak), Service de Neurologie, Pavillon de Neurologie, CHU de Grenoble, France.
PhD
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A. Dürr
From INSERM U289, Neurologie et Thérapeutique Expérimentale (P. Ibáñez, and Drs. Lohmann, Agid, Dürr, and Brice), and Département de Génétique, Cytogénétique et Embryologie (Drs. Dürr and Brice), Hôpital de la Pitié-Salpêtrière, Paris; Department of Neurological Sciences (Dr. De Michele), Università Federico II, Napoli, Italy; Genetic-Epidemiologic Unit (Drs. Bonifati and Heutink), Department of Clinical Genetics, Department of Epidemiology & Biostatistics, Erasmus Medical Center Rotterdam, the Netherlands; Department of Neurological Sciences (Dr. Bonifati), La Sapienza University, Rome, Italy; Fédération de Neurologie (Drs. Lohmann, Agid, Dürr, and Brice), CHU Pitié-Salpêtrière, Hôpital de la Salpêtrière, Paris, France; Neurological Department (Dr. Thobois), Service de Neurologie, Hôpital Pierre Wertheimer, Lyon, France; and Department of Clinical and Biological Neurosciences (Dr. Pollak), Service de Neurologie, Pavillon de Neurologie, CHU de Grenoble, France.
MD
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A. Brice
From INSERM U289, Neurologie et Thérapeutique Expérimentale (P. Ibáñez, and Drs. Lohmann, Agid, Dürr, and Brice), and Département de Génétique, Cytogénétique et Embryologie (Drs. Dürr and Brice), Hôpital de la Pitié-Salpêtrière, Paris; Department of Neurological Sciences (Dr. De Michele), Università Federico II, Napoli, Italy; Genetic-Epidemiologic Unit (Drs. Bonifati and Heutink), Department of Clinical Genetics, Department of Epidemiology & Biostatistics, Erasmus Medical Center Rotterdam, the Netherlands; Department of Neurological Sciences (Dr. Bonifati), La Sapienza University, Rome, Italy; Fédération de Neurologie (Drs. Lohmann, Agid, Dürr, and Brice), CHU Pitié-Salpêtrière, Hôpital de la Salpêtrière, Paris, France; Neurological Department (Dr. Thobois), Service de Neurologie, Hôpital Pierre Wertheimer, Lyon, France; and Department of Clinical and Biological Neurosciences (Dr. Pollak), Service de Neurologie, Pavillon de Neurologie, CHU de Grenoble, France.
MD
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From INSERM U289, Neurologie et Thérapeutique Expérimentale (P. Ibáñez, and Drs. Lohmann, Agid, Dürr, and Brice), and Département de Génétique, Cytogénétique et Embryologie (Drs. Dürr and Brice), Hôpital de la Pitié-Salpêtrière, Paris; Department of Neurological Sciences (Dr. De Michele), Università Federico II, Napoli, Italy; Genetic-Epidemiologic Unit (Drs. Bonifati and Heutink), Department of Clinical Genetics, Department of Epidemiology & Biostatistics, Erasmus Medical Center Rotterdam, the Netherlands; Department of Neurological Sciences (Dr. Bonifati), La Sapienza University, Rome, Italy; Fédération de Neurologie (Drs. Lohmann, Agid, Dürr, and Brice), CHU Pitié-Salpêtrière, Hôpital de la Salpêtrière, Paris, France; Neurological Department (Dr. Thobois), Service de Neurologie, Hôpital Pierre Wertheimer, Lyon, France; and Department of Clinical and Biological Neurosciences (Dr. Pollak), Service de Neurologie, Pavillon de Neurologie, CHU de Grenoble, France.
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Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism
P. Ibáñez, G. De Michele, V. Bonifati, E. Lohmann, S. Thobois, P. Pollak, Y. Agid, P. Heutink, A. Dürr, A. Brice, the French Parkinson’s Disease Genetics Study Group
Neurology Nov 2003, 61 (10) 1429-1431; DOI: 10.1212/01.WNL.0000094121.48373.FD

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Abstract

The DJ-1 gene was identified as responsible for early onset autosomal recessive parkinsonism in two families (PARK7). In this study, after excluding mutations in the parkin gene, the authors screened a large series of early onset autosomal recessive parkinsonism families and consanguineous isolated patients of diverse geographic origins for DJ-1 mutations. No mutations were found. This indicates that PARK7 is not a common locus for early onset autosomal recessive parkinsonism, and that one or more new loci remains to be identified.

  • Received April 18, 2003.
  • Accepted in final form July 26, 2003.
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