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 : the Official Journal of the European Federation of Neurological Societies
J M HertzE Dupont

Abstract

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...Continue Reading

References

Jun 1, 1988·Journal of Neurology, Neurosurgery, and Psychiatry·W R Gibb, A J Lees
Nov 5, 1997·Journal of Neurology, Neurosurgery, and Psychiatry·P R JarmanN W Wood
Oct 8, 1998·The New England Journal of Medicine·A E Lang, A M Lozano
May 29, 2000·The New England Journal of Medicine·C B LückingUNKNOWN European Consortium on Genetic Susceptibility in Parkinson's Disease
May 29, 2000·Brain : a Journal of Neurology·J TassinA Brice
Sep 29, 2000·Movement Disorders : Official Journal of the Movement Disorder Society·S HayashiH Takahashi
Sep 13, 2001·Journal of Neurochemistry·A WestJ Hardy
Sep 18, 2001·Annals of Neurology·M FarrerJ W Langston
Jul 13, 2002·American Journal of Medical Genetics·Andrew WestUNKNOWN French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility on Parkinson's Disease
Aug 8, 2002·Neuroscience Letters·Ignacio F MataEliecer Coto García
Mar 12, 2003·Neurology·T ForoudUNKNOWN Parkinson Study Group
Apr 23, 2003·Archives of Neurology·Anne RomstadFlemming Güttler
Apr 23, 2003·Neurology·N RawalUNKNOWN European Consortium on Genetic Susceptibility in Parkinson's Disease
May 24, 2003·Brain : a Journal of Neurology·Magali PeriquetUNKNOWN European Consortium on Genetic Susceptibility in Parkinson's Disease
May 24, 2003·Brain : a Journal of Neurology·Naheed L KhanNiall Quinn
Aug 2, 2003·Annals of Neurology·Ebba LohmannUNKNOWN European Consortium on Genetic Susceptibility in Parkinson's Disease
Sep 4, 2003·Annals of Neurology·Christine KleinPatricia L Kramer
Sep 4, 2003·Annals of Neurology·Claudia WellenbrockChristine Klein
Nov 26, 2003·Movement Disorders : Official Journal of the Movement Disorder Society·Sarah J LincolnMatthew J Farrer

❮ Previous
Next ❯

Citations

Jul 6, 2014·Brain : a Journal of Neurology·Niccolò E MencacciUNKNOWN International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium
Dec 17, 2014·Brain : a Journal of Neurology·Ilaria GuellaMatthew J Farrer
May 29, 2015·Journal of Human Genetics·Jaya SanyalVadlamudi R Rao
May 18, 2016·Parkinsonism & Related Disorders·Aina RengmarkMathias Toft
Sep 27, 2016·Movement Disorders : Official Journal of the Movement Disorder Society·Roser PonsLeonidas Stefanis
Jul 12, 2018·Journal of Neural Transmission·Toshiharu NagatsuKazuto Kobayashi
Sep 8, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Stephanie A CobbMatthew J Farrer
Sep 8, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Christine KleinAnthony E Lang
Aug 30, 2012·Journal of Neuroscience Research·Khanh Vinh Quôc Luong, Lan Thi Hoàng Nguyên
Jun 18, 2017·Journal of Neural Transmission·Nobutaka Hattori, Yoshikuni Mizuno
Dec 19, 2015·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Ling WangRong Peng
Mar 7, 2013·CNS Neuroscience & Therapeutics·Khanh V Q Luong, Lan T H Nguyễn
Mar 15, 2020·Journal of Neurology·Jung Hwan ShinBeomseok Jeon
Jan 16, 2021·Human Molecular Genetics·Steven J LubbeUNKNOWN for International Parkinson’s Disease Genomics Consortium (IPDGC)

❮ Previous
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