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| Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease |
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| Author(s): Paisan-Ruiz C, Jain S, Evans EW, Gilks WP, Simon J, van der Brug M, de Munain AL, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Carrera IM, Pena AS, de Silva R, Lees A, Marti-Masso JF, Perez-Tur J, Wood NW, Singleton AB |
| Source: NEURON Volume: 44 Issue: 4 Pages: 595-600 Published: NOV 18 2004 |
| Times Cited: 516 References: 16 |
| Abstract: Parkinson's disease (PD; OMIM #168600) is the second most common neurodegenerative disorder in the Western world and presents as a progressive movement disorder. The hallmark pathological features of PD are loss of dopaminergic neurons from the substantia nigra and neuronal intracellular Lewy body inclusions. Parkinsonism is typically sporadic in nature; however, several rare familial forms are linked to genetic loci, and the identification of causal mutations has provided insight into the disease process. PARK8, identified in 2002 by Funayama and colleagues, appears to be a common cause of familial PD. We describe here the cloning of a novel gene that contains missense mutations segregating with PARK8-linked PD in five families from England and Spain. Because of the tremor observed in PD and because a number of the families are of Basque descent, we have named this protein dardarin, derived from the Basque word dardara, meaning tremor. |
| Document Type: Article |
| Language: English |
| Reprint Address: Perez-Tur, J (reprint author), CSIC, Inst Biomed, Dept Genom & Proteom, Unitat Genet Mol, E-46010 Valencia, Spain |
Addresses:
1. CSIC, Inst Biomed, Dept Genom & Proteom, Unitat Genet Mol, E-46010 Valencia, Spain
2. Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
3. Reta Lila Weston Inst Neurol Studies, London W1T 45F, England
4. NIA, Mol Genet Unit, NIH, Porter Neurosci Res Ctr, Bethesda, MD 20892 USA
5. NIA, Cell Biol & Gene Express Unit, NIH, Porter Neurosci Res Ctr, Bethesda, MD 20892 USA
6. Hosp Donostia, Unidad Expt, E-20014 San Sebastian, Spain
7. Hosp Donostia, Serv Neurol, E-20014 San Sebastian, Spain
8. Hosp Ntra Str Antigua Zumarraga, E-20700 Guipuzkao, Spain
9. Hosp Mendaro, E-20850 Guipuzkao, Spain
10. Queen Elizabeth Hosp, Birmingham Dept Neurol, Birmingham B15 2TH, W Midlands England |
| Publisher: CELL PRESS, 1100 MASSACHUSETTS AVE, CAMBRIDGE, MA 02138 USA |
| Subject Category: Neurosciences |
| IDS Number: 874GE |
| ISSN: 0896-6273 |
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