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Neurology 2003;60:1378-1381
© 2003 American Academy of Neurology
Brief Communications

New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism

N. Rawal, MS, M. Periquet, MS, E. Lohmann, MD, C.B. Lücking, MD, H.A. Teive, MD, G. Ambrosio, MD, S. Raskin, MD, S. Lincoln, BS, N. Hattori, MD, J. Guimaraes, MD, M.W.I.M. Horstink, MD, W. Dos Santos Bele, PhD, E. Brousolle, MD, A. Destée, MD, Y. Mizuno, MD, M. Farrer, PhD, J.-F. Deleuze, PhD, G. De Michele, MD, Y. Agid, MD PhD, A. Dürr, MD PhD and A. Brice, MD for The French Parkinson’s Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson’s Disease*

* See the Appendix for a list of The French Parkinson’s Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson’s Disease group members.

Address correspondence and reprint requests to Dr. Alexis Brice, INSERM U289, Hôpital de la Salpêtrière, 47, Boulevard de L’Hôpital, 75013 Paris, France; e-mail: brice{at}ccr.jussieu.fr

The frequency of parkin mutations was evaluated in 30 families of highly diverse geographic origin with early-onset autosomal recessive parkinsonism. Twelve different mutations, six of which were new, were found in 10 families from Europe and Brazil. Patients with parkin mutations had significantly longer disease duration than patients without the mutation but with similar severity of disease, suggesting a slower disease course. Two patients with parkin mutations had atypical clinical presentation at onset, with predominant tremor when standing.




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