Research Topics
Genomes and GenesSpecies | Peter P PramstallerSummaryAffiliation: European Academy Country: Italy Publications
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Detail Information
Publications
Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriersPeter P Pramstaller
Department of Neurology, Central Hospital, Bolzano Bozen, Italy
Ann Neurol 58:411-22. 2005....
A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine levelCristian 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...- The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD studyJeanne 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... - Genotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed Single-Base-Extension assay: the singular maternal history of the Tyrolean IcemanPhillip Endicott
Museèe de l Homme, 17 Place du Trocadero, 75116 Paris, France
BMC Genet 10:29. 2009.... - Phenotypic variability in a large kindred (Family LA) with deletions in the parkin genePeter P Pramstaller
Department of Neurology, Regional General Hospital, Bolzano-Bozen, Italy
Mov Disord 17:424-6. 2002 
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...- Heritability analysis of life span in a semi-isolated population followed across four centuries reveals the presence of pleiotropy between life span and reproductionMartin 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.... - Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypesIrene 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... - The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectivesCristian 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... - Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27Claudia 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... - Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolateIrene 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... - Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD studyMei 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)... - 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... - Co-occurrence of restless legs syndrome and Parkin mutations in two familiesSusanna Adel
Department of Neurology, , , 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... - Replication of association between ELAVL4 and Parkinson disease: the GenePD studyAnita 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... - PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonismChristine Klein
Department of Neurology, University of Lubeck, Lubeck, Germany
Eur J Hum Genet 13:1086-93. 2005..852C>T), but no exon rearrangements. 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... - 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... - 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 humansRüdiger 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... - Brain parenchyma sonography detects preclinical parkinsonismUwe 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... - PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD studyAnita 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.... - Distribution, type, and origin of Parkin mutations: review and case studiesKatja Hedrich
Department of Neurology, , , 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... - Frequency of parkin mutations in late-onset Parkinson's diseaseChristine Klein
Ann Neurol 54:415-6; author reply 416-7. 2003 - Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystoniaBirgitt 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... - Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonismNorman Kock
Ann Neurol 52:257-8; author reply 258. 2002 - Role of parkin mutations in 111 community-based patients with early-onset parkinsonismMartin 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... - Mode of inheritance and susceptibility locus for restless legs syndrome, on chromosome 12qNorman Kock
Am J Hum Genet 71:205-8; author reply 208. 2002 - PedVizApi: a Java API for the interactive, visual analysis of extended pedigreesChristian Fuchsberger
Institute of Genetic Medicine, European Academy, Bolzano, Italy
Bioinformatics 24:279-81. 2008..An extensive demo application and a R interface is provided. AVAILABILITY: http://www.pedvizapi.org.. - New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle EastMark G Thomas
Department of Biology, University College London, London NW1 2HE, UK
Eur J Hum Genet 16:124-34. 2008.... - Genetics of restless legs syndrome (RLS): State-of-the-art and future directionsJuliane 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... - NR4A2 mutations are rare among European patients with familial Parkinson's diseaseClaudia Wellenbrock
Ann Neurol 54:415. 2003 - Genetic structure in contemporary south Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphismsIrene Pichler
Institute of Genetic Medicine, European Academy of Bolzano, Viale Druso 1, 39100 Bolzano-Bozen, Italy
Hum Biol 78:441-64. 2006.... - The R98Q variation in DJ-1 represents a rare polymorphismKatja Hedrich
Ann Neurol 55:145; author reply 145-6. 2004 - Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentationNorman 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... - Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's diseaseKatja Hedrich
Department of Neurology, University of Lubeck, Lubeck, Germany
Mov Disord 21:1506-10. 2006..4321C>T, c.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... - Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolateFlorian 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... - Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patientsDaniela 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... - The pathology of the spinal cord in progressive supranuclear palsyRoberta Vitaliani
Clinica Neurologica 2a, , 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...