Stefano Goldwurm

Summary

Affiliation: Istituti Clinici di Perfezionamento
Country: Italy

Publications

  1. pmc Replication of association between ELAVL4 and Parkinson disease: the GenePD study
    Anita L Destefano
    Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Crosstown Center, 3rd Floor, Boston, MA 02118, USA
    Hum Genet 124:95-9. 2008
  2. pmc DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients
    Francesca Sironi
    Medical Genetics Laboratory, Foundation IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy
    Neurosci Lett 557:165-70. 2013
  3. doi request reprint LRRK2 G2019S mutation in Parkinson's disease: a neuropsychological and neuropsychiatric study in a large Algerian cohort
    Soreya Belarbi
    Laboratoire de Recherche en Neurosciences, Service de Neurologie, CHU Mustapha, Place du 1er Mai, Algiers 16000, Algeria
    Parkinsonism Relat Disord 16:676-9. 2010
  4. pmc Genomewide association study for onset age in Parkinson disease
    Jeanne C Latourelle
    Boston University School of Medicine, Boston, MA, USA
    BMC Med Genet 10:98. 2009
  5. pmc The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study
    Jeanne C Latourelle
    Department of Neurology, Boston University School of Medicine, Boston University, Boston, MA, USA
    BMC Med 6:32. 2008
  6. ncbi request reprint Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease
    S Goldwurm
    Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy
    Neurology 68:1141-3. 2007
  7. 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
  8. doi request reprint Parkin analysis in early onset Parkinson's disease
    Francesca Sironi
    Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy
    Parkinsonism Relat Disord 14:326-33. 2008
  9. pmc SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population
    Luca Trotta
    Dipartimento di Biologia e Genetica per le Scienze Mediche, Universita degli Studi di Milano, Milan, Italy
    Parkinsonism Relat Disord 18:257-62. 2012
  10. doi request reprint Screening for the presence of FMR1 premutation alleles in women with parkinsonism
    Roberto Cilia
    Parkinson Institute Clinici di Perfezionamento, Milan, Italy
    Arch Neurol 66:244-9. 2009

Detail Information

Publications29

  1. pmc Replication of association between ELAVL4 and Parkinson disease: the GenePD study
    Anita L Destefano
    Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Crosstown Center, 3rd Floor, Boston, MA 02118, USA
    Hum Genet 124:95-9. 2008
    ..This replication of association with rs967582 in a third cohort further implicates ELAVL4 as a PD susceptibility gene...
  2. pmc DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients
    Francesca Sironi
    Medical Genetics Laboratory, Foundation IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy
    Neurosci Lett 557:165-70. 2013
    ..All variants had similar frequency in patients and in controls. Our data suggest that DJ1 mutations are very rare in Italian EOPD. Other genes and risk factors for PD are still to be identified...
  3. doi request reprint LRRK2 G2019S mutation in Parkinson's disease: a neuropsychological and neuropsychiatric study in a large Algerian cohort
    Soreya Belarbi
    Laboratoire de Recherche en Neurosciences, Service de Neurologie, CHU Mustapha, Place du 1er Mai, Algiers 16000, Algeria
    Parkinsonism Relat Disord 16:676-9. 2010
    ..Sleep disorders which were also more common amongst mutation carriers than non-carriers might be related to depression...
  4. pmc Genomewide association study for onset age in Parkinson disease
    Jeanne C Latourelle
    Boston University School of Medicine, Boston, MA, USA
    BMC Med Genet 10:98. 2009
    ..There have been previous genomewide association studies (GWAS) to identify genes influencing PD susceptibility, but this is the first to identify genes contributing to the variation in onset age...
  5. pmc The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study
    Jeanne C Latourelle
    Department of Neurology, Boston University School of Medicine, Boston University, Boston, MA, USA
    BMC Med 6:32. 2008
    ..Studies of the penetrance of LRRK2 mutations have produced a wide range of estimates, possibly due to differences in study design and recruitment, including in particular differences between samples of familial PD versus sporadic PD...
  6. ncbi request reprint Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease
    S Goldwurm
    Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy
    Neurology 68:1141-3. 2007
    ..The cumulative incidence of the disease was 15% at 60 years, 21% at 70 years, and 32% at 80 years. This study provides accurate estimates of G2019S penetrance by minimizing the selection bias...
  7. 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...
  8. doi request reprint Parkin analysis in early onset Parkinson's disease
    Francesca Sironi
    Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy
    Parkinsonism Relat Disord 14:326-33. 2008
    ..735delT (p.C212/X224) and c.815C>G (p.C238W). Genotype-phenotype correlation revealed that parkin carriers had features similar to those of non-carrier early onset Parkinson disease patients...
  9. pmc SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population
    Luca Trotta
    Dipartimento di Biologia e Genetica per le Scienze Mediche, Universita degli Studi di Milano, Milan, Italy
    Parkinsonism Relat Disord 18:257-62. 2012
    ..An evaluation of gene-gene and gene-environment interactions in association with PD was also attempted...
  10. doi request reprint Screening for the presence of FMR1 premutation alleles in women with parkinsonism
    Roberto Cilia
    Parkinson Institute Clinici di Perfezionamento, Milan, Italy
    Arch Neurol 66:244-9. 2009
    ..The presence of parkinsonism in FXTAS raises the possibility that some individuals who have Parkinson disease are actually carriers of a premutation FMR1 allele...
  11. 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...
  12. doi request reprint Psychiatric symptoms in Parkinson's disease assessed with the SCL-90R self-reported questionnaire
    Chiara Siri
    Parkinson Institute, Istituti Clinici di Perfezionamento, Via Bignami, 1, 20123, Milan, Italy
    Neurol Sci 31:35-40. 2010
    ..Psychopathological features are frequent in PD and their occurrence is underlined by disease-related factors...
  13. doi request reprint alpha-Synuclein multiplication analysis in Italian familial Parkinson disease
    Francesca Sironi
    Parkinson Institute, Istituti Clinici di Perfezionamento, Via Bignami 1, 20126 Milan, Italy
    Parkinsonism Relat Disord 16:228-31. 2010
    ..Although SNCA duplication is an unusual cause of familial PD testing for it is worthwhile. The clinical presentation of duplicated cases may be more aggressive than usual...
  14. doi request reprint A voxel-based PET study of dopamine transporters in Parkinson's disease: relevance of age at onset
    Andrea Panzacchi
    Department of Nuclear Medicine, Scientific Institute San Raffaele, Milan, Italy
    Neurobiol Dis 31:102-9. 2008
    ..This work demonstrates that severity of nigrostriatal damage in early disease phase of sporadic PD is not dependent on age at onset. Genetically determined PD is associated with more severe and widespread dopaminergic impairment...
  15. ncbi request reprint Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration
    Angelo Antonini
    Parkinson Institute and Neuroradiology, Istituti Clinici di Perfezionamento, Milan, Italy
    Mov Disord 21:417-8. 2006
    ..These findings expand the genetic and imaging spectrum of this rare disorder...
  16. doi request reprint Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene
    Ilaria Guella
    Dipartimento di Biologia e Genetica per le Scienze Mediche, Universita degli Studi di Milano, Milan, Italy
    Neurobiol Aging 32:1994-2005. 2011
    ..These data, together with those recently reported by other groups, suggest that GIGYF2 is unlikely to be the PARK11 gene...
  17. ncbi request reprint Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians
    Daniele Ghezzi
    Unit of Molecular Neurogenetics, National Neurological Institute, Carlo Besta, Milan, Italy
    Eur J Hum Genet 13:748-52. 2005
    ..Our study suggests that haplogroup K might confer a lower risk for PD in Italians, corroborating the idea that the mitochondrial oxidative phosphorylation pathway is involved in the susceptibility to idiopathic PD...
  18. pmc Microtubule destabilization is shared by genetic and idiopathic Parkinson's disease patient fibroblasts
    Daniele Cartelli
    Department of Biology, University of Milan, Milan, Italy
    PLoS ONE 7:e37467. 2012
    ....
  19. doi request reprint Sequence variations in mitochondrial ferritin: distribution in healthy controls and different types of patients
    Emanuela Castiglioni
    Genomic Unit for the Diagnosis of Human Pathologies, Center for Genomics, Bioinformatics, and Biostatistics, San Raffaele Scientific Institute, Milan, Italy
    Genet Test Mol Biomarkers 14:793-6. 2010
    ..07). The analysis suggests that sequence variations in the coding region of FtMt are not involved in the development of myelodysplastic syndromes and Parkinson's disease...
  20. ncbi request reprint Analysis of ferritin genes in Parkinson disease
    Barbara Foglieni
    Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy
    Clin Chem Lab Med 45:1450-6. 2007
    ..The ferritin L-chain is one of these genes, but the rare insertional mutations that cause neuroferritinopathy with basal ganglia degeneration have not yet been identified in PD...
  21. 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...
  22. 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...
  23. ncbi request reprint Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study
    Mei Sun
    Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston 02114, USA
    Arch Neurol 63:826-32. 2006
    ..The PARK2 gene at 6q26 encodes parkin, whose inactivation is implicated in an early-onset autosomal recessive form of Parkinson disease (PD)...
  24. ncbi request reprint Screen for excess FMR1 premutation alleles among males with parkinsonism
    Jeremy Kraff
    Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, One Shields Avenue, Davis, CA 95616, USA
    Arch Neurol 64:1002-6. 2007
    ..Parkinson disease populations may thus include individuals who harbor premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene...
  25. 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?..
  26. doi request reprint HFE gene mutations in a population of Italian Parkinson's disease patients
    Giorgio Biasiotto
    Dipartimento Materno Infantile e Tecnologie Biomediche, University of Brescia, Viale Europa 11, 25123 Brescia, Italy
    Parkinsonism Relat Disord 14:426-30. 2008
    ..We conclude that in the Italian population, the most common HFE mutations, H63D and C282Y are not associated with the individual risk to develop PD, nor have specific influence on the clinical features of the disease...
  27. ncbi request reprint Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum
    Roberta Marongiu
    IRCCS CSS Mendel Institute, Rome, Italy
    Hum Mutat 28:98. 2007
    ..15445_15467del23) which produces several aberrant mRNAs. This report expands the genotypic spectrum of PINK1 mutations, with relevant implications for molecular analysis of this gene...
  28. 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...
  29. pmc Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease
    Corinne Lautier
    Division of Endocrinology, Rhode Island Hospital, Alpert Medical School of Brown University, Providence, RI 02903, USA
    Am J Hum Genet 82:822-33. 2008
    ..The earlier onset and severe clinical course in the index patient suggest additive effects of the GIGYF2 and LRRK2 mutations. These data strongly support GIGYF2 as a PARK11 gene with a causal role in familial PD...