Peter P Pramstaller

Summary

Affiliation: European Academy
Country: Italy

Publications

  1. ncbi request reprint Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers
    Peter P Pramstaller
    Department of Neurology, Central Hospital, Bolzano Bozen, Italy
    Ann Neurol 58:411-22. 2005
  2. pmc Genetic determinants of circulating sphingolipid concentrations in European populations
    Andrew A Hicks
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    PLoS Genet 5:e1000672. 2009
  3. 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
  4. pmc Genotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed Single-Base-Extension assay: the singular maternal history of the Tyrolean Iceman
    Phillip Endicott
    Museèe de l Homme, 17 Place du Trocadero, 75116 Paris, France
    BMC Genet 10:29. 2009
  5. ncbi request reprint 2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family
    Claudia Beu Volpato
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, 39100 Bolzano, Bozen, Italy
    J Mol Neurosci 39:346-53. 2009
  6. doi request reprint Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS)
    Irene Pichler
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy Affiliated Institute of the University of Lübeck, Germany
    Am J Med Genet B Neuropsychiatr Genet 153:350-5. 2010
  7. pmc A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level
    Cristian Pattaro
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    BMC Med Genet 11:41. 2010
  8. doi request reprint Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27
    Claudia B Volpato
    Institute of Genetic Medicine, European Academy of Bolzano Bozen, Viale Druso Drususallee 1, Bolzano Bozen, Italy
    J Med Genet 48:549-56. 2011
  9. doi request reprint Variation in the uric acid transporter gene SLC2A9 and its association with AAO of Parkinson's disease
    Maurizio F Facheris
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Viale Druso 1, 39100, Bolzano, Italy
    J Mol Neurosci 43:246-50. 2011
  10. pmc Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes
    Irene Pichler
    Institute of Genetic Medicine, European Academy Bozen Bolzano, EURAC, Bolzano, Italy Affiliated Institute of the University of Lübeck, Germany corrected
    Eur J Hum Genet 18:463-70. 2010

Detail Information

Publications51

  1. ncbi request reprint Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers
    Peter P Pramstaller
    Department of Neurology, Central Hospital, Bolzano Bozen, Italy
    Ann Neurol 58:411-22. 2005
    ....
  2. pmc Genetic determinants of circulating sphingolipid concentrations in European populations
    Andrew A Hicks
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    PLoS Genet 5:e1000672. 2009
    ....
  3. 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...
  4. pmc Genotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed Single-Base-Extension assay: the singular maternal history of the Tyrolean Iceman
    Phillip Endicott
    Museèe de l Homme, 17 Place du Trocadero, 75116 Paris, France
    BMC Genet 10:29. 2009
    ....
  5. ncbi request reprint 2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family
    Claudia Beu Volpato
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, 39100 Bolzano, Bozen, Italy
    J Mol Neurosci 39:346-53. 2009
    ..Electronic supplementary material. The online version of this article (doi:10.1007/s12031-009-9287-3) contains supplementary material, which is available to authorized users...
  6. doi request reprint Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS)
    Irene Pichler
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy Affiliated Institute of the University of Lübeck, Germany
    Am J Med Genet B Neuropsychiatr Genet 153:350-5. 2010
    ..9 years. However, there was no effect on the disease severity. Our results suggest that the occurrence of a heterozygous Parkin mutation works in tandem with the gene at the RLS4 locus to lower the AAO in RLS...
  7. pmc A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level
    Cristian Pattaro
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    BMC Med Genet 11:41. 2010
    ..A substantial proportion of the inter-individual variability in S CR level is explicable by genetic factors...
  8. doi request reprint Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27
    Claudia B Volpato
    Institute of Genetic Medicine, European Academy of Bolzano Bozen, Viale Druso Drususallee 1, Bolzano Bozen, Italy
    J Med Genet 48:549-56. 2011
    ..Thyroid hormones have important roles in growth, development and control of metabolism, and their dysregulation can lead to disease...
  9. doi request reprint Variation in the uric acid transporter gene SLC2A9 and its association with AAO of Parkinson's disease
    Maurizio F Facheris
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Viale Druso 1, 39100, Bolzano, Italy
    J Mol Neurosci 43:246-50. 2011
    ..No gender differences were observed. Our study suggests that SLC2A9 genetic variants influence age of onset of Parkinson's disease...
  10. pmc Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes
    Irene Pichler
    Institute of Genetic Medicine, European Academy Bozen Bolzano, EURAC, Bolzano, Italy Affiliated Institute of the University of Lübeck, Germany corrected
    Eur J Hum Genet 18:463-70. 2010
    ..The Hutterite male and female gene pools are similar with respect to genetic diversity and genetic distance measures and comparable with respect to their origins, suggesting a similar evolutionary history...
  11. pmc Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate
    Irene Pichler
    Institute of Genetic Medicine, European Academy, Bolzano, Italy
    Am J Hum Genet 79:716-23. 2006
    ..1). These findings reemphasize the genetic heterogeneity of the disorder and strongly support the identification of a novel locus for RLS on chromosome 2q...
  12. ncbi request reprint Genetic structure in contemporary south Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms
    Irene Pichler
    Institute of Genetic Medicine, European Academy of Bolzano, Viale Druso 1, 39100 Bolzano Bozen, Italy
    Hum Biol 78:441-64. 2006
    ....
  13. pmc The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives
    Cristian Pattaro
    Institute of Genetic Medicine, European Academy, Bolzano, Italy
    BMC Med Genet 8:29. 2007
    ..For historical and political reasons, South Tyrol, the northern most Italian region, includes several villages of small dimensions which remained isolated over the centuries...
  14. doi request reprint Exclusion of linkage to chromosome 14q in a large South Tyrolean family with Idiopathic Basal Ganglia Calcification (IBGC)
    Claudia Beu Volpato
    Institute of Genetic Medicine, European Academy, Bolzano, Italy
    Am J Med Genet B Neuropsychiatr Genet 147:1319-22. 2008
    ..Linkage analysis excluded the IBCG1 locus, thus demonstrating further locus heterogeneity for this disease...
  15. ncbi request reprint Copy number variation and association over T-cell receptor genes--influence of DNA source
    Christine Schwienbacher
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    Immunogenetics 62:561-7. 2010
    ....
  16. pmc Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster
    Fabiola Del Greco M
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    Hum Mol Genet 20:1660-71. 2011
    ..The identification of novel variants in the MTHFR-CLCN6-NPPA-NPPB cluster provides new insights into the biological mechanisms of cardiac dysfunction...
  17. doi request reprint Genome-wide linkage analysis of serum creatinine in three isolated European populations
    Cristian Pattaro
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    Kidney Int 76:297-306. 2009
    ..Our finding of a replicated association of serum creatinine with the MYH9 gene, recently linked to pathological renal conditions in African Americans, suggests that this gene may also influence kidney function in healthy Europeans...
  18. doi request reprint Estimating the glomerular filtration rate in the general population using different equations: effects on classification and association
    Cristian Pattaro
    Center for Biomedicine, European Academy of Bolzano Bozen EURAC, Bolzano, Italy
    Nephron Clin Pract 123:102-11. 2013
    ....
  19. pmc Serum iron levels and the risk of Parkinson disease: a Mendelian randomization study
    Irene Pichler
    Center for Biomedicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    PLoS Med 10:e1001462. 2013
    ....
  20. ncbi request reprint Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene
    Peter P Pramstaller
    Department of Neurology, Regional General Hospital, Bolzano Bozen, Italy
    Mov Disord 17:424-6. 2002
  21. pmc Profiling of Parkin-binding partners using tandem affinity purification
    Alessandra Zanon
    Center for Biomedicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy, Affiliated Institute of the University of Lübeck, Lubeck, Germany
    PLoS ONE 8:e78648. 2013
    ..New candidates for involvement in cell death processes, protein folding, the fission/fusion machinery, and the mitophagy pathway were identified, which provide a resource for further elucidating Parkin function. ..
  22. pmc Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels
    Irene Pichler
    Institute of Genetic Medicine, European Academy Bozen Bolzano, 39100 Bolzano, Italy
    Hum Mol Genet 20:1232-40. 2011
    ....
  23. pmc Update on the management of restless legs syndrome: existing and emerging treatment options
    Maurizio F Facheris
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy Affiliated Institute of the University of Lübeck, Lubeck, Germany Department of Neurology, Central Hospital, Bolzano, Italy
    Nat Sci Sleep 2:199-212. 2010
    ..Undiagnosed, wrongly diagnosed, and untreated RLS is associated with a significant impairment of the quality of life...
  24. pmc Genome-wide association and functional follow-up reveals new loci for kidney function
    Cristian Pattaro
    Institute of Genetic Medicine, European Academy of Bozen Bolzano EURAC and Affiliated Institute of the University of Lübeck, Bolzano, Italy
    PLoS Genet 8:e1002584. 2012
    ..By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD...
  25. pmc Importance of different types of prior knowledge in selecting genome-wide findings for follow-up
    Cosetta Minelli
    Center for Biomedicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    Genet Epidemiol 37:205-13. 2013
    ..Our findings provide insight into the selection and weighting of different types of knowledge in SNP or gene prioritization, and point to areas requiring further research...
  26. doi request reprint Heritability analysis of life span in a semi-isolated population followed across four centuries reveals the presence of pleiotropy between life span and reproduction
    Martin Gögele
    Institute of Genetic Medicine, European Academy Bozen Bolzano Research, Viale Druso Drususallee, 1 39100 Bolzano Bozen, Italy
    J Gerontol A Biol Sci Med Sci 66:26-37. 2011
    ....
  27. ncbi request reprint PedVizApi: a Java API for the interactive, visual analysis of extended pedigrees
    Christian Fuchsberger
    Institute of Genetic Medicine, European Academy, Bolzano, Italy
    Bioinformatics 24:279-81. 2008
    ..An extensive demo application and a R interface is provided...
  28. ncbi request reprint Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolate
    Florian D Vogl
    Institute of Genetic Medicine, European Academy, Bolzano, Italy
    Mov Disord 21:1189-95. 2006
    ..The absence of a suggestive linkage signal at the three known RLS susceptibility loci is indicative of further locus heterogeneity of this frequent disorder and encourages further studies to unveil the genetic causes of RLS...
  29. pmc PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study
    Anita L Destefano
    Department of Neurology, Boston University Schools of Medicine and of Public Health, Boston, MA 02118, USA
    Am J Hum Genet 70:1089-95. 2002
    ....
  30. ncbi request reprint The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans
    Rüdiger Hilker
    Department of Neurology, Medical University of Cologne, Cologne, Germany
    Neurosci Lett 323:50-4. 2002
    ..Thus, parkinsonism in parkin gene carriers may be related to abnormal nigral protein accumulation in the presence of a suprathreshold enzyme dysfunction...
  31. pmc Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia
    Birgitt Müller
    Department of Neurology, University of Lubeck, Germany
    Am J Hum Genet 71:1303-11. 2002
    ..Loss of imprinting in the patient with M-D who had biallelic expression of the SGCE gene was associated with partial loss of methylation at several CpG dinucleotides...
  32. ncbi request reprint Frequency of parkin mutations in late-onset Parkinson's disease
    Christine Klein
    Ann Neurol 54:415-6; author reply 416-7. 2003
  33. ncbi request reprint Distribution, type, and origin of Parkin mutations: review and case studies
    Katja Hedrich
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 19:1146-57. 2004
    ..This study provides evidence for both mutational hot spots and founder mutations as a source of recurrent mutations in Parkin, regardless of the mutation type...
  34. ncbi request reprint PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism
    Christine Klein
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Eur J Hum Genet 13:1086-93. 2005
    ..No mutations were found in the DJ-1 gene. The number of mutation carriers in both the Parkin and the PINK1 gene in our cohort is low but comparable, suggesting that PINK1 has to be considered in EOP...
  35. 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...
  36. ncbi request reprint Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?
    Katja Hedrich
    Department of Human Genetics, University of Lubeck, Lubeck, Germany
    Mov Disord 20:1060-2. 2005
    ..Of note, 1 of the affected premutation carriers had a heterozygous Parkin mutation...
  37. ncbi request reprint Co-occurrence of restless legs syndrome and Parkin mutations in two families
    Susanna Adel
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 21:258-63. 2006
    ..The clinical phenotype did not differ between RLS patients with and without a Parkin mutation. Inheritance of RLS was consistent with autosomal dominant transmission, and linkage analysis excluded all three known loci for RLS...
  38. ncbi request reprint Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?
    Ana Djarmati
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 21:1526-30. 2006
    ..Two of these patients shared mutations with their affected relatives, further suggesting that heterozygous PINK1 mutations may act as a susceptibility factor for EOPD...
  39. 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)...
  40. ncbi request reprint Brain parenchyma sonography detects preclinical parkinsonism
    Uwe Walter
    Department of Neurology, University of Rostock, Rostock, Germany
    Mov Disord 19:1445-9. 2004
    ..In 2 asymptomatic PMC, PET and BPS were normal. However, in another 2 asymptomatic PET-normal PMC, SN hyperechogenicity could be detected. Data suggest SN hyperechogenicity as an early marker to detect preclinical parkinsonism...
  41. ncbi request reprint Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation
    Norman Kock
    Department of Neurology, University of Schleswig Holstein, Lubeck, Germany
    Mov Disord 19:231-4. 2004
    ..We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous...
  42. ncbi request reprint The R98Q variation in DJ-1 represents a rare polymorphism
    Katja Hedrich
    Ann Neurol 55:145; author reply 145-6. 2004
  43. ncbi request reprint Role of parkin mutations in 111 community-based patients with early-onset parkinsonism
    Martin Kann
    Department of Neurology, Medical University of Lubeck, Lubeck, Germany
    Ann Neurol 51:621-5. 2002
    ..In summary, parkin mutations accounted for a low but significant percentage of early-onset parkinsonism patients in a community-derived sample...
  44. ncbi request reprint Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients
    Daniela Berg
    Institute for Medical Genetics, University of Tubingen, Germany
    Mov Disord 20:1191-4. 2005
    ..A53T mutation. These results demonstrate that mutations in the alpha-synuclein gene are rare and suggest that other factors contribute to alpha-synuclein aggregation in the majority of PD patients...
  45. pmc Mode of inheritance and susceptibility locus for restless legs syndrome, on chromosome 12q
    Norman Kock
    Am J Hum Genet 71:205-8; author reply 208. 2002
  46. ncbi request reprint Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease
    Katja Hedrich
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 21:1506-10. 2006
    ..6055G>A) in three early-onset patients. Screening of an additional 220 early-onset PD patients for these mutations revealed another mutation carrier. In conclusion, LRRK2 mutations need to be considered also in early-onset PD...
  47. ncbi request reprint Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism
    Norman Kock
    Ann Neurol 52:257-8; author reply 258. 2002
  48. ncbi request reprint New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East
    Mark G Thomas
    Department of Biology, University College London, London NW1 2HE, UK
    Eur J Hum Genet 16:124-34. 2008
    ....
  49. ncbi request reprint Genetics of restless legs syndrome (RLS): State-of-the-art and future directions
    Juliane Winkelmann
    Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich, Germany
    Mov Disord 22:S449-58. 2007
    ..One important prerequisite for future successful genetic studies in RLS is the availability of large and thoroughly phenotyped patients and family samples for linkage as well as association studies...
  50. ncbi request reprint The pathology of the spinal cord in progressive supranuclear palsy
    Roberta Vitaliani
    Clinica Neurologica 2a, Universita degli Studi di Padova, Padua, Italy
    J Neuropathol Exp Neurol 61:268-74. 2002
    ..On the basis of existing data, we conclude that previous suggestions implicating spinal interneurons in the pathogenesis of neck dystonia should not be supported...
  51. ncbi request reprint NR4A2 mutations are rare among European patients with familial Parkinson's disease
    Claudia Wellenbrock
    Ann Neurol 54:415. 2003