V Bonifati

Summary

Affiliation: Erasmus MC
Country: The Netherlands

Publications

  1. pmc Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia
    Marialuisa Quadri
    Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands
    Neurogenetics 12:203-9. 2011
  2. pmc Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
    Lucio Santoro
    Department of Neurological Sciences, University of Naples Federico II, Naples, Italy
    Neurogenetics 12:33-9. 2011
  3. pmc Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred
    Guido J Breedveld
    Department of Clinical Genetics, Erasmus MC, P O Box 2040, 3000 CA, Rotterdam, The Netherlands
    Neurogenetics 11:417-23. 2010
  4. doi request reprint Genetics of parkinsonism
    Vincenzo Bonifati
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Parkinsonism Relat Disord 13:S233-41. 2007
  5. ncbi request reprint Progress in the genetics of progressive supranuclear palsy: tau gene and beyond
    Vincenzo Bonifati
    Department of Clinical Genetics, Room Ee 975, Erasmus Medical Center Rotterdam, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
    Curr Neurol Neurosci Rep 5:419-21. 2005
  6. ncbi request reprint Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease
    Vincenzo Bonifati
    Department of Clinical Genetics, Erasmus MC Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    J Mol Med (Berl) 82:163-74. 2004
  7. ncbi request reprint Common neurodegenerative diseases: dissection by genome-wide association
    Vincenzo Bonifati
    Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    Curr Neurol Neurosci Rep 7:425-7. 2007
  8. ncbi request reprint Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes
    V Bonifati
    Department of Clinical Genetics, Erasmus MC Rotterdam, The Netherlands
    Neurology 65:87-95. 2005
  9. ncbi request reprint Recent advances in the genetics of dementia with lewy bodies
    Vincenzo Bonifati
    Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA, Rotterdam, The Netherlands
    Curr Neurol Neurosci Rep 8:187-9. 2008
  10. ncbi request reprint Unraveling the pathogenesis of Parkinson's disease--the contribution of monogenic forms
    V Bonifati
    Department of Clinical Genetics, Room Ee 975, Erasmus MC Rotterdam, P O Box 1738, 3000, DR Rotterdam, The Netherlands
    Cell Mol Life Sci 61:1729-50. 2004

Detail Information

Publications67

  1. pmc Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia
    Marialuisa Quadri
    Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands
    Neurogenetics 12:203-9. 2011
    ..The TDP-43 protein might be directly involved in a broader neurodegenerative spectrum, including not only motoneuron disease and FTLD but also PD...
  2. pmc Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
    Lucio Santoro
    Department of Neurological Sciences, University of Naples Federico II, Naples, Italy
    Neurogenetics 12:33-9. 2011
    ....
  3. pmc Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred
    Guido J Breedveld
    Department of Clinical Genetics, Erasmus MC, P O Box 2040, 3000 CA, Rotterdam, The Netherlands
    Neurogenetics 11:417-23. 2010
    ..1. Suggestive linkage to an overlapping region of chromosome 14q was reported in a recent scan of TS sibling pairs. This region might therefore contain an important gene for TS, and it should be prioritized for further study...
  4. doi request reprint Genetics of parkinsonism
    Vincenzo Bonifati
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Parkinsonism Relat Disord 13:S233-41. 2007
    ..Other Mendelian genes remain to be found, but the complete resolution of the genetic architectures of the common PD forms represents the main challenge for the next decade...
  5. ncbi request reprint Progress in the genetics of progressive supranuclear palsy: tau gene and beyond
    Vincenzo Bonifati
    Department of Clinical Genetics, Room Ee 975, Erasmus Medical Center Rotterdam, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
    Curr Neurol Neurosci Rep 5:419-21. 2005
  6. ncbi request reprint Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease
    Vincenzo Bonifati
    Department of Clinical Genetics, Erasmus MC Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    J Mol Med (Berl) 82:163-74. 2004
    ..Although much work remains to be done to clarify the biology of DJ-1, its proposed activity as a molecular chaperone and/or as oxidative sensor appear intriguing in the light of the current theories on the pathogenesis of PD...
  7. ncbi request reprint Common neurodegenerative diseases: dissection by genome-wide association
    Vincenzo Bonifati
    Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    Curr Neurol Neurosci Rep 7:425-7. 2007
    ..The success of this method in several common diseases leaves little doubt that it will aid in deciphering the genetic bases of the most common and devastating neurodegenerative disorders...
  8. ncbi request reprint Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes
    V Bonifati
    Department of Clinical Genetics, Erasmus MC Rotterdam, The Netherlands
    Neurology 65:87-95. 2005
    ..To assess the prevalence, nature, and associated phenotypes of PINK1 gene mutations in a large series of patients with early-onset (<50 years) parkinsonism...
  9. ncbi request reprint Recent advances in the genetics of dementia with lewy bodies
    Vincenzo Bonifati
    Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA, Rotterdam, The Netherlands
    Curr Neurol Neurosci Rep 8:187-9. 2008
    ..Collectively, these discoveries highlight a substantial overlap between the known genetic determinants of Parkinson's disease and DLB, as well as the presence of profound etiologic heterogeneity in Lewy body disorders...
  10. ncbi request reprint Unraveling the pathogenesis of Parkinson's disease--the contribution of monogenic forms
    V Bonifati
    Department of Clinical Genetics, Room Ee 975, Erasmus MC Rotterdam, P O Box 1738, 3000, DR Rotterdam, The Netherlands
    Cell Mol Life Sci 61:1729-50. 2004
    ..Moreover, we focus on the mechanisms of disease caused by alpha-synuclein and parkin mutations, and the implications of this growing body of knowledge for understanding the pathogenesis of the common forms of the disease...
  11. ncbi request reprint Parkinson's disease: the LRRK2-G2019S mutation: opening a novel era in Parkinson's disease genetics
    Vincenzo Bonifati
    Department of Clinical Genetics, Erasmus MC Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Eur J Hum Genet 14:1061-2. 2006
  12. doi request reprint Autosomal recessive parkinsonism
    Vincenzo Bonifati
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Parkinsonism Relat Disord 18:S4-6. 2012
    ..Yet, it is expected that other monogenic forms of parkinsonism will be identified in the future, as mutations in the above-mentioned genes are not found in other patients with similar phenotypes...
  13. ncbi request reprint The pleomorphic pathology of inherited Parkinson's disease: lessons from LRRK2
    Vincenzo Bonifati
    Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    Curr Neurol Neurosci Rep 6:355-7. 2006
  14. ncbi request reprint ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
    A Di Fonzo
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Neurology 68:1557-62. 2007
    ..To assess the prevalence, nature, and associated phenotypes of ATP13A2 gene mutations among patients with juvenile parkinsonism (onset <21 years) or young onset (between 21 and 40 years) Parkinson disease (YOPD)...
  15. ncbi request reprint LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease
    Vincenzo Bonifati
    Department of Clinical Genetics, Erasmus MC, P O Box 2040, 3000 CA, Rotterdam, The Netherlands
    Neurochem Res 32:1700-8. 2007
    ..Understanding how the dysfunction of LRRK2 protein leads to neurodegeneration might provide crucial insights for unraveling the molecular mechanisms of PD and for developing disease-modifying therapies...
  16. ncbi request reprint Genetics of Parkinson's disease
    V Bonifati
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Minerva Med 96:175-86. 2005
    ..The importance of genetic testing is expected to increase in the near future in the PD field. Here, the author provides a brief update on the genetics of the monogenic forms of PD...
  17. ncbi request reprint High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal
    Joaquim J Ferreira
    Neurological Clinic Research Unit, Institute of Molecular Medicine, Lisbon School of Medicine, Lisbon, Portugal
    Mov Disord 22:1194-201. 2007
    ..These data have important implications for the diagnostic work-up and genetic counseling of patients with this disease in Portugal...
  18. ncbi request reprint Is GIGYF2 the defective gene at the PARK11 locus?
    Vincenzo Bonifati
    Department of Clinical Genetics, Erasmus Medical Center, Box 2040, 3000 CA, Rotterdam, The Netherlands
    Curr Neurol Neurosci Rep 9:185-7. 2009
    ..However, the optimism generated by the initial report has quickly been tempered by results obtained in the first wave of follow-up studies...
  19. ncbi request reprint Epidemiology of progressive supranuclear palsy. ESGAP Consortium. European Study Group on Atypical Parkinsonisms
    N Vanacore
    Department of Neurological Sciences, La Sapienza University, Rome, Italy
    Neurol Sci 22:101-3. 2001
    ..The significance of this association is still not clear. We have performed a case-control study on 58 PSP cases, 116 hospital controls and 58 population controls...
  20. ncbi request reprint The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease
    V Bonifati
    Department of Neurological Sciences, La Sapienza University, Rome, Italy
    Neurol Sci 22:51-2. 2001
    ..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...
  21. pmc Three parkin gene mutations in a sibship with autosomal recessive early onset parkinsonism
    V Bonifati
    Department of Neurological Sciences, La Sapienza, University, Rome, Italy
    J Neurol Neurosurg Psychiatry 71:531-4. 2001
    ..In conclusion, the frequency of mutations in the parkin gene in certain populations might be high enough to cause allelic heterogeneity in the same sibship...
  22. ncbi request reprint Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7
    V Bonifati
    Department of Neurological Sciences, La Sapienza University, Viale dell Universita 30, I 00185 Rome, Italy
    Neurol Sci 23:S59-60. 2002
    ..This will contribute to unraveling the pathogenesis of AREP, and it is also expected to foster our understanding of molecular events underlying classic Parkinson's disease...
  23. ncbi request reprint Epidemiology of multiple system atrophy. ESGAP Consortium. European Study Group on Atypical Parkinsonisms
    N Vanacore
    Department of Neurological Sciences, La Sapienza University, Rome, Italy
    Neurol Sci 22:97-9. 2001
    ..We have performed a case-control study on 73 MSA cases, 146 hospital controls and 73 population controls...
  24. ncbi request reprint Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
    Vincenzo Bonifati
    Genetic Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands
    Science 299:256-9. 2003
    ..Elucidating the physiological role of DJ-1 protein may promote understanding of the mechanisms of brain neuronal maintenance and pathogenesis of Parkinson's disease...
  25. ncbi request reprint Novel parkin mutations detected in patients with early-onset Parkinson's disease
    Aida M Bertoli-Avella
    Genetic Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology and Biostatistics, Erasmus MC Rotterdam, The Netherlands
    Mov Disord 20:424-31. 2005
    ..This study confirms the frequent involvement of parkin and the importance of genetic testing in the diagnostic work-up of EOP...
  26. ncbi request reprint DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism
    V Bonifati
    Department of Clinical Genetics, Erasmus Medical Center Rotterdam, 1738 DR Rotterdam, The Netherlands
    Neurol Sci 24:159-60. 2003
    ..Elucidating the role of DJ-1 will lead to a better understanding of the pathogenesis of DJ-1-related and common forms of Parkinson's disease...
  27. ncbi request reprint Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease
    Alessio Di Fonzo
    Department of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam, The Netherlands
    Eur J Hum Genet 14:322-31. 2006
    ..These data have implications both for understanding the molecular mechanisms of PD, and for directing the genetic screening in clinical practice...
  28. pmc Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36
    C M van Duijn
    Genetic Epidemiologic Unit, Departments of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Center Rotterdam, 3000 DR Rotterdam, The Netherlands
    Am J Hum Genet 69:629-34. 2001
    ..Therefore, we conclude that we have identified on chromosome 1 a second locus, PARK7, involved in autosomal recessive, early-onset parkinsonism...
  29. ncbi request reprint A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease
    Alessio Di Fonzo
    Department of Clinical Genetics, Erasmus MC Rotterdam, PO Box 1738, 3000 DR Rotterdam, Netherlands
    Lancet 365:412-5. 2005
    ..The associated phenotype was broad, including early and late disease onset. These findings confirm the association of LRRK2 with neurodegeneration, and identify a common mutation associated with dominantly inherited Parkinson's disease...
  30. ncbi request reprint A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan
    Alessio Di Fonzo
    Department of Clinical Genetics, Erasmus MC Rotterdam, P O Box 1738, 3000 DR, Rotterdam, The Netherlands
    Neurogenetics 7:133-8. 2006
    ..Our findings suggest that the LRRK2 Gly2385Arg is the first identified, functionally relevant variant, which acts as common risk factor for sporadic PD in the population of Chinese ethnicity...
  31. doi request reprint FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
    A Di Fonzo
    Department of Clinical Genetics, Erasmus MC, P O Box 2040, 3000 CA Rotterdam, The Netherlands
    Neurology 72:240-5. 2009
    ..Very recently, a locus was mapped in a single family with an overlapping phenotype, and an FBXO7 gene mutation was nominated as the likely disease cause...
  32. doi request reprint GIGYF2 mutations are not a frequent cause of familial Parkinson's disease
    Alessio Di Fonzo
    Department of Clinical Genetics, Erasmus MC, 3000 CA Rotterdam, The Netherlands
    Parkinsonism Relat Disord 15:703-5. 2009
    ..Our data add to a growing body of evidence suggesting that GIGYF2 mutations are not a frequent cause of PD...
  33. ncbi request reprint Evaluation of risk of Parkinson's disease in a cohort of licensed pesticide users
    N Vanacore
    Department of Neurological Sciences, La Sapienza University, Viale dell Universita 30, I 00185 Rome, Italy
    Neurol Sci 23:S119-20. 2002
    ..After 27 years of follow-up, 4788 subjects are still alive. The aim of this study is to measure the prevalence of Parkinson's disease in a large group of workers with theoretically increased risk...
  34. ncbi request reprint The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease
    B S Harhangi
    Department of Epidemiology and Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands
    Neurosci Lett 270:1-4. 1999
    ..We conclude that the UCH-L1 gene is not a major gene responsible for familial PD...
  35. ncbi request reprint Parkinson's disease: piecing together a genetic jigsaw
    M C J Dekker
    Genetic Epidemiologic Unit, Erasmus Medical Centre, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Brain 126:1722-33. 2003
    ..We review advances in the genetics of Parkinson's disease, focusing on the monogenic forms and their clinical and population-genetic consequences...
  36. doi request reprint Worldwide frequency of G2019S LRRK2 mutation in Parkinson's disease: a systematic review
    L Correia Guedes
    Neurological Clinical Research Unit, Instituto de Medicina Molecular, Lisbon School of Medicine, Lisbon, Portugal
    Parkinsonism Relat Disord 16:237-42. 2010
    ..The LRRK2 G2019S mutation is the most frequent known cause of familial and sporadic Parkinson's disease. Knowledge of its worldwide frequency distribution is essential for clinical and molecular research as well as genetic counseling...
  37. ncbi request reprint DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia
    Patrizia Rizzu
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Ann Neurol 55:113-8. 2004
    ..Our study extends the view that different neurodegenerative diseases may have similar pathological mechanisms, and that these processes likely include DJ-1...
  38. ncbi request reprint Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease
    Aida M Bertoli-Avella
    Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
    Mov Disord 18:1240-9. 2003
    ....
  39. ncbi request reprint Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the Netherlands
    Aida M Bertoli-Avella
    Genetic Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology and Biostatistics, Erasmus MC Rotterdam, PO Box 1738, 3000 DR, Rotterdam, The Netherlands
    Hum Genet 119:51-60. 2006
    ..7-6.1, P < 0.001). Moreover, a common haplotype with excess of sharing among late-onset PD cases was observed on both regions. Our results suggest the existence of two loci influencing PD susceptibility on chromosome 9q and 14q...
  40. ncbi request reprint Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset
    Vincenzo Bonifati
    Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
    Ann Neurol 51:253-6. 2002
    ..Assignment of families to either PARK6 or PARK7 might be difficult because of the proximity of the two loci on chromosome 1p...
  41. ncbi request reprint Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism
    Christan F Rohé
    Department of Clinical Genetics, Erasmus MC Rotterdam, The Netherlands
    Ann Neurol 56:427-31. 2004
    ..These findings confirm that recessive mutations in PINK1 cause early-onset parkinsonism and expand the associated clinical phenotype...
  42. doi request reprint Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred
    Antonetta M G Sas
    Department of Neurology, Erasmus MC Rotterdam, The Netherlands
    Mov Disord 25:1715-22. 2010
    ..In conclusion, we provide the first confirmation of the RLS-5 locus, and we reduce its critical region. The identification of the underlying mutation might reveal an important susceptibility gene for this common movement disorder...
  43. ncbi request reprint A large Italian family with Gilles de la Tourette syndrome: clinical study and analysis of the SLITRK1 gene
    Giovanni Fabbrini
    Department of Neurological Sciences and Neuromed Institute, University La Sapienza, Rome, Italy
    Mov Disord 22:2229-34. 2007
    ..The negative results of the SLITRK1 analysis point to genetic heterogeneity in TS...
  44. doi request reprint Analysis of the LRRK2 Gly2385Arg variant in primary dystonia and multiple system atrophy in Taiwan
    Chin Song Lu
    Section of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital and Chang Gung University, No 5, Fu Shin Street, Kweishan, Taoyuan 33305, Taiwan
    Parkinsonism Relat Disord 14:393-6. 2008
    ..Whether the Gly2385Arg variant modifies the risk for MSA deserves further study in larger samples...
  45. pmc Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
    Daniel G Healy
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Lancet Neurol 7:583-90. 2008
    ..LRRK2-associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2?..
  46. ncbi request reprint Complex relationship between Parkin mutations and Parkinson disease
    Andrew West
    Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA
    Am J Med Genet 114:584-91. 2002
    ....
  47. ncbi request reprint Dissecting the complexity of frontotemporal dementia: genotypes, phenotypes, and phenocopies
    Christine Klein
    Neurology 69:129-30. 2007
  48. ncbi request reprint Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis
    Anne Grünewald
    Department of Neurology, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Neurogenetics 8:103-9. 2007
    ..1366C>T mutation...
  49. ncbi request reprint Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371Val mutation
    Maria Teresa Giordana
    Department of Neuroscience, University of Torino, Torino, Italy
    Mov Disord 22:275-8. 2007
    ..These findings support the concept that the neurodegeneration associated with LRRK2 mutations might be clinically and pathologically indistinguishable from typical PD...
  50. ncbi request reprint Exclusion of the Nurr1 gene in autosomal recessive Parkinson's disease
    Nina Rawal
    J Neurol 249:1127-9. 2002
  51. ncbi request reprint Clinical features and neuroimaging of PARK7-linked parkinsonism
    Marieke Dekker
    Genetic Epidemiologic Unit, Departments of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands
    Mov Disord 18:751-7. 2003
    ....
  52. ncbi request reprint Familial influence on parkinsonism in a rural area of Turkey (Kizilcaboluk-Denizli): a community-based case-control study
    Fusun Duzcan
    Department of Medical Biology, Pamukkale University, Denizli, Turkey
    Mov Disord 18:799-804. 2003
    ....
  53. ncbi request reprint How much phenotypic variation can be attributed to parkin genotype?
    Ebba Lohmann
    INSERM U289, Hopital de la Salpetriere, Paris, France
    Ann Neurol 54:176-85. 2003
    ..Patients with a single heterozygous mutation had significantly later and more asymmetrical onset and more frequent levodopa-induced fluctuations and dystonia than patients with two mutations...
  54. ncbi request reprint Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation
    Stephen Hague
    Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
    Ann Neurol 54:271-4. 2003
    ..This subject was diagnosed with probable PD at age 24 years with asymmetric onset and an excellent response to levodopa therapy. Our observations suggest that sequence alterations in DJ-1 are a rare cause of early-onset PD...
  55. ncbi request reprint The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes
    Maria G Macedo
    Department of Human Genetics, Section Medical Genomics, VU University Medical Center, 1081 BT Amsterdam, The Netherlands
    Hum Mol Genet 12:2807-16. 2003
    ..This rapid turnover and the structural changes of DJ-1L166P mutant protein might be crucial in the disease pathogenesis...
  56. ncbi request reprint A common LRRK2 mutation in idiopathic Parkinson's disease
    William P Gilks
    Department of Molecular Neuroscience, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
    Lancet 365:415-6. 2005
    ..We suggest that testing for this mutation will be important in the management and genetic counselling of patients with Parkinson's disease...
  57. ncbi request reprint Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease
    Maria Martinez
    INSERM EMI00 06, Evry, France
    Am J Med Genet B Neuropsychiatr Genet 136:72-4. 2005
    ..This suggests that apolipoprotein E4 is responsible for the linkage peak in this region and that it is a modest risk factor for Parkinson's disease...
  58. ncbi request reprint Does parkin play a role in the peripheral nervous system? A family report
    Giovanni Abbruzzese
    Department of Neuroscience, Ophthalmology and Genetics, Section of Neurology, University of Genova, Italy
    Mov Disord 19:978-81. 2004
    ..RT-PCR experiments revealed that the parkin gene is expressed in sural nerves from both controls and patient with parkin-related disease. Our findings support the view that parkin may play a role in the peripheral nervous system...
  59. ncbi request reprint LRRK2 mutations and Parkinson's disease in Sardinia--A Mediterranean genetic isolate
    Giovanni Cossu
    Neurology Service and Stroke Unit, General Hospital S Michele AOB G Brotzu, Piazzale Ricchi 1, 09134 Cagliari, Italy
    Parkinsonism Relat Disord 13:17-21. 2007
    ..The identification of an 85-year-old, healthy Gly2019Ser carrier supports the concept that this mutation displays incomplete penetrance...
  60. ncbi request reprint Glutathione S-transferase polymorphisms and onset age in alpha-synuclein A53T mutant Parkinson's disease
    Lawrence I Golbe
    Department of Neurology, University of Medicine and Dentistry of New Jersey Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA
    Am J Med Genet B Neuropsychiatr Genet 144:254-8. 2007
    ..Nevertheless, our results suggest that further investigation in GSTP1 variants and PD pathogenesis is warranted in sporadic PD and that a search for toxins that accelerate PD OA should pay particular attention to GST-P1 substrates...
  61. ncbi request reprint LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample
    Stefano Goldwurm
    Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy
    Parkinsonism Relat Disord 12:410-9. 2006
    ..Clinical features in carriers were those of typical, idiopathic Parkinson's disease. However, behavioural abnormalities were frequent (87%), suggesting a more widespread limbic involvement in G2019S carriers...
  62. ncbi request reprint PARK6-linked parkinsonism occurs in several European families
    Enza Maria Valente
    Institute for Medical Genetics C S S Mendel, Rome, Italy
    Ann Neurol 51:14-8. 2002
    ..PARK6 appears to be an important locus for early-onset parkinsonism in European Parkin-negative patients...
  63. ncbi request reprint Striatal dopamine transporter binding in Parkinson's disease associated with the LRRK2 Gly2019Ser mutation
    Ioannis U Isaias
    Centro Parkinson, Istituti Clinici di Perfezionamento, Milan, Italy
    Mov Disord 21:1144-7. 2006
    ..We conclude that in these patients carrying the LRRK2 Gly2019Ser mutation, the neurodegenerative process results in a pattern of nigrostriatal dopaminergic dysfunction similar to that observed in IPD...
  64. ncbi request reprint Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil
    Hsin F Chien
    Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Brazil
    Neurogenetics 7:13-9. 2006
    ..The cluster reported here, which to our knowledge is the largest described to date with early-onset PD and parkin mutations, also offers a unique opportunity for the search of modifiers of the parkin-related disease...
  65. ncbi request reprint The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease
    Chin Song Lu
    Parkinsonism Relat Disord 11:521-2. 2005
  66. ncbi request reprint PARK11 is not linked with Parkinson's disease in European families
    Jürgen Prestel
    Hertie Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tuebingen, Hoppe Seyler Str 3, 72076 Tuebingen, Germany
    Eur J Hum Genet 13:193-7. 2005
    ..Therefore, PARK11 does not seem to play a major role for familial PD in the European population...
  67. ncbi request reprint Deciphering Parkinson's disease--PARK8
    Vincenzo Bonifati
    Department of Neurological Sciences, La Sapienza University, Rome, Italy
    Lancet Neurol 1:83. 2002