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Brain Advance Access originally published online on April 8, 2003
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Brain, Vol. 126, No. 6, 1271-1278, June 2003
© 2003 Guarantors of Brain
doi: 10.1093/brain/awg136

Parkin mutations are frequent in patients with isolated early-onset parkinsonism

Magali Periquet1, Morwena Latouche1, Ebba Lohmann1, Nina Rawal1, Giuseppe De Michele7, Sylvain Ricard6, Hélio Teive8, Valérie Fraix5, Marie Vidailhet1,4, David Nicholl10, Paolo Barone7, Nick W. Wood11, Salmo Raskin9, Jean-François Deleuze6, Yves Agid1,3, Alexandra Dürr1,2,3 and Alexis Brice1,2,3 the French Parkinson’s Disease Genetics Study Group* and the European Consortium on Genetic Susceptibility in Parkinson’s Disease**

1 INSERM U289, 2 Département de Génétique, Cytogénétique et Embryologie and 3 Fédération de Neurologie, Hôpital de la Salpêtrière and 4 Service de Neurologie, Hôpital Saint Antoine, Paris, 5 Service de Neurologie, CHU de Grenoble, Grenoble, and 6 Biotechnology Department, Aventis Pharma, Vitry sur Seine, France, 7 Dipartimento di Scienze Neurologiche, Università Federico II, Napoli, Italy, 8 Departamento de Neurologia, Hospital de Clinicas and 9 Laboratorio Genetika, Curitiba Parana, Brazil, 10 Department of Clinical Neurology, Queen Elizabeth Hospital, Birmingham, and 11 Institute of Neurology, London, UK

Correspondence to: 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. * Y. Agid, A.-M. Bonnet, M. Borg, A. Brice, E. Broussolle, Ph. Damier, A. Destée, A. Dürr, F. Durif, J. Feingold, G. Fénelon, E. Lohmann, M. Martinez, C. Penet, P. Pollak, O. Rascol, F. Tison, C. Tranchant, M. Vérin, F. Viallet, M. Vidailhet and J.-M. Warter. ** N.W. Wood and D. Nicholl (UK); A. Brice, A. Dürr, M. Martinez and Y. Agid (France); T. Gasser and B. Müller-Myhsok (Germany); M. Breteler, S. Harhangi and B. Oostra (The Netherlands); V. Bonifati, N. Vanacore, G. De Michele, E. Fabrizio, A. Filla and G. Meco (Italy)

Parkin gene mutations are reported to be a major cause of early-onset parkinsonism (age at onset <=45 years) in families with autosomal recessive inheritance and in isolated juvenile-onset parkinsonism (age at onset <20 years). However, the precise frequency of parkin mutations in isolated cases is not known. In order to evaluate the frequency of parkin mutations in patients with isolated early-onset parkinsonism according to their age at onset, we studied 146 patients of various geographical origin with an age at onset <=45 years. All were screened for mutations in the parkin gene using semi-quantitative polymerase chain reaction combined with sequencing of the entire coding region. We identified parkin mutations in 20 patients including three new exon rearrangements and two new missense mutations. These results, taken in conjunction with those of our previous study (Lücking et al., 2000) show that parkin mutations account for at least 15% (38 out of 246) of our early-onset cases without family history, but that the proportion decreases significantly with increasing age at onset. There were no clinical group differences between parkin cases and other patients with early-onset parkinsonism. However, a single case presenting with cerebellar ataxia several years before typical parkinsonism extends the spectrum of parkin related-disease.


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