The parkin gene and its phenotype
- V. Bonifati
- G. De Michele
- C. B. Lücking
- A. Dürr
- E. Fabrizio
- G. Ambrosio
- N. Vanacore
- M. De Mari
- R. Marconi
- L. Capus
- M. M. B. Breteler
- T. Gasser
- B. Oostra
- N. Wood
- Y. Agid
- A. Filla
- G. Meco
- A. Brice
- for the Italian PD Genetics Study Group, French PD Genetics Study Groupand the European Consortium on Genetic Susceptibility in Parkinson's Disease
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Abstract
Mutations of the parkin gene on chromosome 6 cause autosomal recessive, early onset parkinsonism. This is the most frequent form of monogenic parkinsonism so far identified. The associated phenotypical spectrum encompasses early onset, levodopa-responsive parkinsonism (average onset in the early 30s in Europe), and it overlaps with dopa-responsive dystonia in cases with the earliest onset, and with clinically typical Parkinson's disease in cases with later onset. Despite clinical features, Lewy bodies are not found at autopsy in brains of patients with parkin mutations. The parkin protein possesses ubiquitin ligase activity, which is abolished by the pathogenic mutations.
Keywords
Early Onset Parkin Dystonia Lewy Body Ubiquitin Ligase
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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© Springer-Verlag Italia 2001
Authors and Affiliations
- V. Bonifati
- G. De Michele
- C. B. Lücking
- A. Dürr
- E. Fabrizio
- G. Ambrosio
- N. Vanacore
- M. De Mari
- R. Marconi
- L. Capus
- M. M. B. Breteler
- T. Gasser
- B. Oostra
- N. Wood
- Y. Agid
- A. Filla
- G. Meco
- A. Brice
- for the Italian PD Genetics Study Group, French PD Genetics Study Groupand the European Consortium on Genetic Susceptibility in Parkinson's Disease
- 1.Department of Neurological Sciences, La Sapienza University, Viale dell'Università 30, I-00185 Rome, ItalyIT
- 2.Department of Neurological Sciences, Federico II University, Naples, ItalyIT
- 3.INSERM U289, Hôpital de la Salpétrière, Paris, FranceFR
- 4.Institute of Neurology, University of Bari, ItalyIT
- 5.Division of Neurology, Misericordia Hospital, Grosseto, ItalyIT
- 6.Institute of Neurology, University of Trieste, ItalyIT
- 7.Department of Epidemiology and Biostatistics, Erasmus University, Rotterdam, The NetherlandsNL
- 8.Neurologische Klinik, Klinikum Grosshadern, Munich, GermanyDE
- 9.Department of Clinical Genetics, Erasmus University, Rotterdam, The NetherlandsNL
- 10.Institute of Neurology, Queen Square, London, UKGB