دورية أكاديمية
Novel parkin mutations detected in patients with early-onset Parkinson's disease.
| العنوان: | Novel parkin mutations detected in patients with early-onset Parkinson's disease. |
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| المؤلفون: | Bertoli-Avella AM; Genetic-Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam, The Netherlands., Giroud-Benitez JL; University Hospital Carlos J. Finlay, Havana, Cuba., Akyol A; Department of Neurology, Adnan Menderes University, Aydin, Turkey., Barbosa E; Department of Neurology, University of São Paulo, São Paulo, Brazil., Schaap O; Genetic-Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam, The Netherlands., van der Linde HC; Genetic-Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam, The Netherlands., Martignoni E; Neurological Institute IRCCS Mondino, Pavia and A. Avogadro University, Novara, Italy., Lopiano L; Department of Neuroscience, University of Turin, Turin, Italy., Lamberti P; Department of Neurology, University of Bari, Bari, Italy., Fincati E; Department of Neurology, University of Verona, Verona, Italy., Antonini A; Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy., Stocchi F; Department of Neurological Sciences, University La Sapienza, Rome, Italy., Montagna P; Department of Neurology, University of Bologna, Bologna, Italy., Squitieri F; Neurogenetics Unit, IRCCS Neuromed, Pozzilli, Italy., Marini P; Department of Neurology, University of Florence, Florence, Italy., Abbruzzese G; Department of Neurosciences, Ophthalmology and Genetics, University of Genova, Genova, Italy., Fabbrini G; Department of Neurological Sciences, University La Sapienza, Rome, Italy., Marconi R; Neurology Division, Hospital Misericordia, Grosseto, Italy., Dalla Libera A; Neurology Division, Hospital Boldrini, Thiene, Italy., Trianni G; Neurology Division, Hospital of Casarano, Casarano, Italy., Guidi M; Neurology Division, INRCA Institute, Ancona, Italy., De Gaetano A; Neurology Division, Hospital of Castrovillari, Castrovillari, Italy., Boff Maegawa G; Medical Genetics Service, Hospital de Clinicas, Porto Alegre, Brazil., De Leo A; Neurology Division, Hospital Piemonte, Messina, Italy., Gallai V; Department of Neurology, University of Perugia, Perugia, Italy., de Rosa G; Division of Neurology, Hospital of Ivrea, Ivrea, Italy., Vanacore N; National Centre of Epidemiology, National Institute for Health, Rome, Italy., Meco G; Department of Neurological Sciences, University La Sapienza, Rome, Italy., van Duijn CM; Genetic-Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam, The Netherlands., Oostra BA; Genetic-Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam, The Netherlands., Heutink P; Section Medical Genomics, Department of Human Genetics and Department of Biological Psychology, VU University Medical Center, Amsterdam, The Netherlands., Bonifati V; Genetic-Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam, The Netherlands.; Department of Neurological Sciences, University La Sapienza, Rome, Italy. |
| مؤلفون مشاركون: | Italian Parkinson Genetics Network, MD; Genetic-Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam, The Netherlands.; University Hospital Carlos J. Finlay, Havana, Cuba. |
| المصدر: | Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2005 Apr; Vol. 20 (4), pp. 424-431. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print Cited Medium: Print ISSN: 0885-3185 (Print) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2001->: New York, NY : Wiley-Liss Original Publication: [New York, N.Y.] : Raven Press, [c1986- |
| مواضيع طبية MeSH: | Oncogene Proteins/*genetics , Parkinson Disease/*genetics , Point Mutation/*genetics , Protein Kinases/*genetics , Ubiquitin-Protein Ligases/*genetics, Adolescent ; Adult ; Age of Onset ; Aged ; Cost-Benefit Analysis ; Exons/genetics ; Female ; Gene Library ; Genotype ; Humans ; Intracellular Signaling Peptides and Proteins ; Male ; Mass Screening/methods ; Middle Aged ; Parkinson Disease/economics ; Parkinson Disease/epidemiology ; Phenotype ; Polymerase Chain Reaction ; Protein Deglycase DJ-1 |
| مستخلص: | A multiethnic series of patients with early-onset Parkinson's disease (EOP) was studied to assess the frequency and nature of parkin/PARK2 gene mutations and to investigate phenotype-genotype relationships. Forty-six EOP probands with an onset age of < 45 years, and 14 affected relatives were ascertained from Italy, Brazil, Cuba, and Turkey. The genetic screening included direct sequencing and exon dosage using a new, cost-effective, real-time polymerase chain reaction method. Mutations were found in 33% of the indexes overall, and in 53% of those with family history compatible with autosomal recessive inheritance. Fifteen parkin alterations (10 exon deletions and five point mutations) were identified, including four novel mutations: Arg402Cys, Cys418Arg, IVS11-3C > G, and exon 8-9-10 deletion. Homozygous mutations, two heterozygous mutations, and a single heterozygous mutation were found in 8, 6, and 1 patient, respectively. Heterozygous exon deletions represented 28% of the mutant alleles. The patients with parkin mutations showed significantly earlier onset, longer disease duration, more frequently symmetric onset, and slower disease progression than the patients without mutations, in agreement with previous studies. This study confirms the frequent involvement of parkin and the importance of genetic testing in the diagnostic work-up of EOP. (Copyright 2004 Movement Disorder Society.) |
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| معلومات مُعتمدة: | GTF03009 Italy TI_ Telethon |
| المشرفين على المادة: | 0 (Intracellular Signaling Peptides and Proteins) 0 (Oncogene Proteins) EC 2.3.2.27 (Ubiquitin-Protein Ligases) EC 2.3.2.27 (parkin protein) EC 2.7.- (Protein Kinases) EC 2.7.11.1 (PTEN-induced putative kinase) EC 3.1.2.- (PARK7 protein, human) EC 3.1.2.- (Protein Deglycase DJ-1) |
| تواريخ الأحداث: | Date Created: 20041208 Date Completed: 20050825 Latest Revision: 20220129 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1002/mds.20343 |
| PMID: | 15584030 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 0885-3185 |
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| DOI: | 10.1002/mds.20343 |