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NEUROLOGY 2003;61:1429-1431
© 2003 American Academy of Neurology


Brief Communications

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

P. Ibáñez, BS, G. De Michele, MD, V. Bonifati, MD, E. Lohmann, MD, S. Thobois, MD, P. Pollak, MD, Y. Agid, MD, P. Heutink, PhD, A. Dürr, MD and A. Brice, MD the French Parkinson’s Disease Genetics Study Group*

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.

Address correspondence and reprint requests to Prof. Alexis Brice, INSERM U289, Hôpital de la Salpêtrière, 47, Boulevard de l’Hôpital, 75651 Paris cedex 13, France; e-mail: brice{at}ccr.jussieu.fr

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.

*See the Appendix on page 1431 for a list of members of the French Parkinson’s Disease Genetics Study Group.




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