Human Molecular Genetics, Vol 8, 567-574, Copyright © 1999 by Oxford University Press
N Abbas, CB Lucking, S Ricard, A Durr, V Bonifati, G De Michele, S Bouley, JR Vaughan, T Gasser, R Marconi, E Broussolle, C Brefel-Courbon, BS Harhangi, BA Oostra, E Fabrizio, GA Bohme, L Pradier, NW Wood, A Filla, G Meco, P Denefle, Y Agid and A Brice
Autosomal recessive juvenile parkinsonism (AR-JP, PARK2; OMIM 602544), one
of the monogenic forms of Parkinson's disease (PD), was initially described
in Japan. It is characterized by early onset (before age 40), marked
response to levodopa treatment and levodopa-induced dyskinesias. The gene
responsible for AR-JP was recently identified and designated parkin. We
have analysed the 12 coding exons of the parkin gene in 35 mostly European
families with early onset autosomal recessive parkinsonism. In one family,
a homozygous deletion of exon 4 could be demonstrated. By direct sequencing
of the exons in the index patients of the remaining 34 families, eight
previously undescribed point mutations (homozygous or heterozygous) were
detected in eight families that included 20 patients. The mutations
segregated with the disease in the families and were not detected on
110-166 control chromosomes. Four mutations caused truncation of the parkin
protein. Three were frameshifts (202-203delAG, 255delA and 321-322insGT)
and one a nonsense mutation (Trp453Stop). The other four were missense
mutations (Lys161Asn, Arg256Cys, Arg275Trp and Thr415Asn) that probably
affect amino acids that are important for the function of the parkin
protein, since they result in the same phenotype as truncating mutations or
homozygous exon deletions. Mean age at onset was 38 +/- 12 years, but onset
up to age 58 was observed. Mutations in the parkin gene are therefore not
invariably associated with early onset parkinsonism. In many patients, the
phenotype is indistinguishable from that of idiopathic PD. This study has
shown that a wide variety of different mutations in the parkin gene are a
common cause of autosomal recessive parkinsonism in Europe and that
different types of point mutations seem to be more frequently responsible
for the disease phenotype than are deletions.
ARTICLES
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease
INSERM U289, Hopital de la Salpetriere, 47 Boulevard de l'Hopital, 75651 Paris Cedex 13, France.
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B.P.C. van de Warrenburg, M. Lammens, C.B. Lucking, P. Denefle, P. Wesseling, J. Booij, P. Praamstra, N. Quinn, A. Brice, and M.W.I.M. Horstink Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations Neurology, February 27, 2001; 56(4): 555 - 557. [Abstract] [Full Text] [PDF]
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S. Sveinbjornsdottir, A. A. Hicks, T. Jonsson, H. Petursson, G. Guethmundsson, M. L. Frigge, A. Kong, J. R. Gulcher, and K. Stefansson Familial Aggregation of Parkinson's Disease in Iceland N. Engl. J. Med., December 14, 2000; 343(24): 1765 - 1770. [Abstract] [Full Text] [PDF]
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Y. Zhang, J. Gao, K. K. K. Chung, H. Huang, V. L. Dawson, and T. M. Dawson Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1 PNAS, November 8, 2000; (2000) 240347797. [Abstract] [Full Text]
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B. S. Shastry Molecular Etiology of Parkinson Disease: Recent Progress Neuroscientist, August 1, 2000; 6(4): 234 - 240. [Abstract] [PDF]
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J. M Autere, J. S Moilanen, V. V Myllyla, and K. Majamaa Familial aggregation of Parkinson's disease in a Finnish population J. Neurol. Neurosurg. Psychiatry, July 1, 2000; 69(1): 107 - 109. [Abstract] [Full Text] [PDF]
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J. Tassin, A. Durr, A.-M. Bonnet, R. Gil, M. Vidailhet, C. B. Lucking, J.-Y. Goas, F. Durif, M. Abada, B. Echenne, et al. Levodopa-responsive dystonia: GTP cyclohydrolase I or parkin mutations? Brain, June 1, 2000; 123(6): 1112 - 1121. [Abstract] [Full Text] [PDF]
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C. B. Lucking, A. Durr, V. Bonifati, J. Vaughan, G. De Michele, T. Gasser, B. S. Harhangi, G. Meco, P. Denefle, N. W. Wood, et al. Association between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene N. Engl. J. Med., May 25, 2000; 342(21): 1560 - 1567. [Abstract] [Full Text] [PDF]
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E. Culetto and D. B. Sattelle A role for Caenorhabditis elegans in understanding the function and interactions of human disease genes Hum. Mol. Genet., April 1, 2000; 9(6): 869 - 877. [Abstract] [Full Text] [PDF]
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P. Nisipeanu, R. Inzelberg, S. C. Blumen, R. L. Carasso, N. Hattori, H. Matsumine, and Y. Mizuno Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: Mutation of Parkin gene Neurology, October 22, 1999; 53(7): 1602 - 1602. [Abstract] [Full Text]
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M. Farrer, K. Gwinn-Hardy, M. Hutton, and J. Hardy The genetics of disorders withsynuclein pathology and parkinsonism Hum. Mol. Genet., September 1, 1999; 8(10): 1901 - 1905. [Abstract] [Full Text] [PDF]
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Y. Zhang, J. Gao, K. K. K. Chung, H. Huang, V. L. Dawson, and T. M. Dawson Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1 PNAS, November 21, 2000; 97(24): 13354 - 13359. [Abstract] [Full Text] [PDF]
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