Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease
| Autor: | A. Romstad, L. B. Møller, Erik Dupont, Inger Juncker, Karen Østergaard, S. Pedersen, F. Güttler, Jens Michael Hertz |
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| Rok vydání: | 2006 |
| Předmět: |
Adult
Male medicine.medical_specialty Tyrosine 3-Monooxygenase Denmark Ubiquitin-Protein Ligases GTP cyclohydrolase I DNA Mutational Analysis Population Gene mutation medicine.disease_cause Compound heterozygosity Polymerase Chain Reaction Parkin Internal medicine medicine Humans Missense mutation Age of Onset GTP Cyclohydrolase education Polymorphism Single-Stranded Conformational Genetics Mutation education.field_of_study biology business.industry Parkinson Disease Endocrinology Neurology biology.protein Female Neurology (clinical) Age of onset business |
| Zdroj: | Hertz, J M, Ostergaard, K, Juncker, I, Pedersen, S, Romstad, A, Güttler, F, Møller, L B & Dupont, E 2006, ' Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease ', European Journal of Neurology, vol. 13, no. 4, pp. 385-90 . https://doi.org/10.1111/j.1468-1331.2006.01249.x |
| ISSN: | 1468-1331 1351-5101 |
| Popis: | Udgivelsesdato: 2006-Apr Autosomal recessive Parkinson's disease (PD) with early-onset may be caused by mutations in the parkin gene (PARK2). We have ascertained 87 Danish patients with an early-onset form of PD (age at onset < or =40 years, or < or =50 years if family history is positive) in a multicenter study in order to determine the frequency of PARK2 mutations. Analysis of the GTP cyclohydrolase I gene (GCH1) and the tyrosine hydroxylase gene (TH), mutated in dopa-responsive dystonia and juvenile PD, have also been included. Ten different PARK2 mutations were identified in 10 patients. Two of the patients (2.3%) were found to have homozygous or compound heterozygous mutations, and eight of the patients (9.2%) were found to be heterozygous. A mutation has been identified in 10.4% of the sporadic cases and in 15.0% of cases with a positive family history of PD. One patient was found to be heterozygous for both a PARK2 mutation and a missense mutation (A6T) in TH of unknown significance. It cannot be excluded that both mutations contribute to the phenotype. No other putative disease causing TH or GCH1 mutations were found. In conclusion, homozygous, or compound heterozygous PARK2 mutations, and mutations in GCH1 and TH, are rare even in a population of PD patients with early-onset of the disease. |
| Databáze: | OpenAIRE |
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