Peter P. Pramstaller Institute of Genetic Medicine Drususallee/Viale Druso, 1 39100 Bozen/Bolzano  Tel. +39 0471 055 501  Fax +39 0471 055 599  contact

Peter's primary research focus is the molecular genetics of movement disorders, with a special focus on common age-related neurodegenerative disorders such as Parkinson's disease (PD). After his return from the National Hospital of Neurology and Neurosurgery, Queen Square (1993-1995) he started a large scale neuroepidemiology project (NEPT) on PD and related disorders in South Tyrol, the northern-most province of Italy. The combination of epidemiology ("information as the mother of intuition") and pedigree-based genetics ("using genetic clues to understand the development of neurodegenerative disease") lead to the discovery of the largest known kindred with Parkin-associated parkinsonism. Strengthened by the success of these familial studies he started in 2002 the "GenNova-Health-Care-Program", an extensive, two-stage survey aimed at characterizing the genetic epidemiology of Mendelian and complex diseases in South Tyrolean population isolates. Since his relocation he also leads the PD clinic at the Central Hospital of Bolzano, is the medical coordinator of the Progressive Supranuclear palsy (PSP) Society-Europe and member of several societies and research associations.

Publications

(2008)

Riegler A, Marroni F, Pattaro C, Gueresi P. and Pramstaller PP. Isolation and marriage patterns in four South Tyrolean Villages (Italy) from 1781 to 1920. J Biosocial Science (in press).

Grazio D, Pichler I, Fuchsberger C, Zolezzi F, Guarnieri P, Heidegger H, Scherer A, Engl B, Messini S, Egarter-Vigl E, Pramstaller PP. Differential gene expression analysis of ovarian cancer in a population isolate. EurJGynOncol (in press).

Jennifer E Tobin, Jeanne C. Latourelle, Mark F. Lew, Christine Klein, Oksana Suchowersky, Holly A. Shill, Lawrence I. Golbe, Margery H. Mark, John H. Growdon, Fred G. Wooten, Brad A. Racette, Joel S. Perlmutter, Ray Watts, Mark Guttman, Kenneth B. Baker, Stefano Goldwurm, Gianni Pezzoli, Carlos Singer, Marie-Helene Saint-Hilaire, Audrey E. Hendricks, Sally Williamson, Michael W. Nagle, Jemma B. Wilk, Tiffany Massood, Jason M. Laramie, Anita L. DeStefano, Irene Litvan, Garth Nicholson, Alastair J. Corbett, Stuart Isaacson, David J. Burn, Patrick F. Chinnery, Peter P. Pramstaller, Scott Sherman, Jomana Alhinti, Ed Drasby, Martha Nance, Anette T Moller, Karen Ostergaard, Richard Roxburgh, Barry Snow, John T. Slevin, Franca Cambi, James F. Gusella, and Richard H. Myers. Haplotypes and gene expression implicate the MAPT region for Parkinson disease: The GenePD Study. NEUROLOGY. (in press).

Volpato CB, De Grandi A, Buffone E, Pichler I, Gebert U, Schifferle G, Schönhuber R, Pramstaller PP.Exclusion of linkage to chromosome 14q in a large South Tyrolean family with idiopathic basal ganglia calcification (IBGC).Am J Med Genet B Neuropsychiatr Genet. 2008 Mar 24. (abstract)

MF Facheris, S Maniak, F Scaravilli, B Schüle, C Klein, PP Pramstaller. Pure akinesia as initial presentation of PSP: a clinicopathological study. Parkinsonism Relat Disord. 2008 Mar 4. (abstract)

K. Lohmann-Hedrich, A. Neumann, A. Kleesang, T. Lohnau, H. Muhle, A. Djarmati, I. R. König, P. P. Pramstaller, E. Schwinger, P. L. Kramer, A. Ziegler, U. Stephani, C. Klein. Evidence for linkage of restless legs syndrome to chromosome 9p: Are there two distinct loci? Neurology, 2008; 70:686-94. (abstract) 

Fuchsberger C, Falchi M, Forer L, Pramstaller PP. PedVizApi: a Java API for the interactive, visual analysis of extended pedigrees. Bioinformatics. 2008; 24:279-81. (abstract)

Marroni F., Grazio D., Pattaro C., Devoto M., Pramstaller PP: "Estimates of Genetic and Environmental Contribution to 43 Quantitative Traits Support Sharing of a Homogeneous Environment in an Isolated Population from South Tyrol, Italy", Human Heredity 2008;65:175-82. (abstract)

Pichler I, Hicks AA, Pramstaller PP. Restless legs syndrome: an update on genetics and future perspectives. Clin Genet. 2008;73:297-305. (abstract)

Mark G. Thomas, Ian Barnes, Michael E. Weale, Abigail L. Jones, Peter Forster, Neil Bradman and Peter P. Pramstaller. 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. Eur J Hum Genet. 2008;16:124-34. (abstract)

(2007)

Johann M. Hagenah, Inke R. König, Björn Becker, Rüdiger Hilker, Meike Kasten, Katja Hedrich, Peter P. Pramstaller, Christine Klein, Günter Seidel. Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles. J Neurol. 2007; 254:1407-13. (abstract)

A. Djarmati, M. Gužvić, A. Grünewald, A.E.Lang, P.P. Pramstaller, D.K. Simon, A.M. Kaindl, P. Vieregge, A. Nygren, C. Beetz, K. Hedrich, and C. Klein. Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification. Mov Disord. 2007;22:1708-14. (abstract)

Ferdinand Binkofski, Kathrin Reetz, Christian Gaser, Rüdiger Hilker, Johann Hagenah, Katja Hedrich, Thilo van Eimeren, Andreas Thiel, Christian Büchel, Peter P. Pramstaller, Hartwig R. Siebner, Christine Klein. Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia. Neurology. 2007;69:842-50. (abstract)

Pattaro C, Marroni F, Riegler A, Mascalzoni D, Pichler I, Volpato CB, Dal Cero U, De Grandi A, Egger C, Eisendle A, Fuchsberger C, Gogele M, Pedrotti S, Pinggera GK, Stefanov SA, Vogl FD, Wiedermann CJ, Meitinger T, Pramstaller PP. The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives. BMC Med Genet. 2007;8:29. (abstract) 

Juliane Winkelmann, Oli Polo, Federica Provini, Sonja Nevsimalova, David Kemlink, Karel Sonka, Birgit Högl, Werner Poewe, Karin Stiasny-Kolster, Wolfgang Oertel, Al de Weerd, Luigi Ferini Strambi, Marco Zucconi, Peter P. Pramstaller, Isabelle Arnulf, Claudia Trenkwalder, Christine Klein, Georgios M. Hadjigeorgiou, Svenja Happe, David Rye, Pasquale Montagna. Genetics of Restless Legs Syndrome (RLS): State-of-the-Art and Future Directions. Mov Disord. 2007;22:449 - 458.

Trenkwalder C, Kohnen R, Allen RP, Benes H, Ferini-Strambi L, Garcia-Borreguero D, Hadjigeorgiou GM, Happe S, Hogl B, Hornyak M, Klein C, Nass A, Montagna P, Oertel WH, O'keeffe S, Paulus W, Poewe W, Provini F, Pramstaller PP, Sieminski M, Sonka K, Stiasny-Kolster K, de Weerd A, Wetter TC, Winkelmann J, Zucconi M.  Clinical trials in restless legs syndrome-Recommendations of the European RLS Study Group (EURLSSG). Mov Disord. 2007;22:495 - 504.

(2006)

Wilk JB, Tobin JE, Suchowersky O, Shill H, Klein C, Wooten GF, Lew M, Mark MH, Guttman M, Watts RL, Singer C, Growdon J, Latourelle JC, Saint-Hilaire M, DeStefano AL, Prakash R, Williamson S, Berg CJ, Sun M, Goldwurm S, Pezzoli G, Racette BA, Perlmutter JS, Parsian A, Baker K, Giroux ML, Litvan I, Pramstaller PP, Nicholson GA, Burn DJ, Chinnery PF, Vieregge P, Slevin JT, Cambi F, MacDonald ME, Gusella JF, Myers RH, Golbe LI.  Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: The GenePD Study. Neurology. 2006;67:2206-10. (abstract)

Marroni F, Pichler I, De Grandi A, Beu Volpato C, Vogl FD, Pinggera GK, Bailey-Wilson JE and Pramstaller PP. Population isolates in South Tyrol and their value for genetic dissection of complex diseases. Ann Hum Genet. 2006;70(Pt 6):812-21. (abstract)

Pichler I, Marroni F, Beu Volpato C, Gusella JF, Klein C, Casari G, De Grandi A, Pramstaller PP. Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South tyrolean population isolate. Am J Hum Genet. 2006;79:716-23. (abstract)

Djarmati A, Hedrich K, Svetel M, Lohnau T, Schwinger E, Romac S, Pramstaller PP, Kostic V, Klein C. Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease? Mov Disord. 2006;21:1526-30. (abstract)

Hedrich K, Winkler S, Hagenah J, Kabakci K, Kasten M, Schwinger E, Volkmann J, Pramstaller PP, Kostic V, Vieregge P, Klein C. Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease. Mov Disord. 2006;21:1506-10. (abstract)

Pichler I, Mueller JC, Stefanov SA, De Grandi A, Volpato Beu C, Pinggera Gk, Mayr A, Ogriseg M, Ploner F, Meitinger T and Pramstaller PP. Genetic structure in contemporary South Tyrolean isolated populations revealed by the analysis of Y chromosome, mtDNA and Alu polymorphisms. Hum Biol 2006;78:441-64. (abstract)

Helmchen C, Schwekendiek A, Pramstaller PP, Hedrich K, Klein C, Rambold H. Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations. J Neurol. 2006;253:1071-5. (abstract)

Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol. 2006;63:826-32. (abstract)

Vogl FD, Pichler I, Adel S, Pinggera GK, Bracco S, De Grandi A, Beu Volpato C, Aridon P, Mayer T, Meitinger T, Klein C, Casari G and Pramstaller PP. Restless Legs Syndrome: Epidemiological and Clinico-Genetic Study in a South Tyrolean Population Isolate. Mov Disord. 2006;21:1189-95. (abstract)

Adel S, Djarmati A, Kabakci K, Pichler I, Eskelson C, Lohnau T, Kock N, Hagenah J, Hedrich K, Schwinger E, Kramer PL, Pramstaller PP, Klein C. Co-occurrence of restless legs syndrome and Parkin mutations in two families. Mov Disord. 2006;21:258-63. (abstract)

(2005)

Karamohamed S, Latourelle JC, Racette BA, Perlmutter JS, Wooten GF, Lew MF, Klein C, Shill H, Golbe LI, Mark MH, Guttman M, Nicholson G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Tobin J, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Giroux ML, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gusella JF, Myers RH, Parsian A. BDNF genetic variants are associated with onset-age of familial Parkinson's disease: GenePD study. Neurology 2005;65:1823-5. (abstract)

Kis B, Hedrich K, Kann M, Schwinger E, Kompf D, Klein C, Pramstaller PP. Oculogyric dystonic states in early-onset parkinsonism with basal ganglia calcifications. Neurology. 2005;65:761. (abstract)

Pramstaller PP, Schlossmacher MG, Jacques TS, Scaravilli F, Eskelson C, Pepivani I, Hedrich K, Adel S, Gonzales-McNeal M, Hilker R, Kramer PL, Klein C. Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. Ann Neurol. 2005;58:411-22. (abstract)

Klein C, Djarmati A, Hedrich K, Schafer N, Scaglione C, Marchese R, Kock N, Schule B, Hiller A, Lohnau T, Winkler S, Wiegers K, Hering R, Bauer P, Riess O, Abbruzzese G, Martinelli P, Pramstaller PP. PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. Eur J Hum Genet. 2005;13:1086-93. (abstract)

Karamohamed S, Golbe LI, Mark MH, Lazzarini AM, Suchowersky O, Labelle N, Guttman M, Currie LJ, Wooten GF, Stacy M, Saint-Hilaire M, Feldman RG, Liu J, Shoemaker CM, Wilk JB, Destefano AL, Latourelle JC, Xu G, Watts R, Growdon J, Lew M, Waters C, Vieregge P, Pramstaller PP, Klein C, Racette BA, Perlmutter JS, Parsian A, Singer C, Montgomery E, Baker K, Gusella JF, Herbert A, Myers RH. Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study. Mov Disord. 2005;20:1188-91. (abstract)

Buhmann C, Binkofski F, Klein C, Buchel C, van Eimeren T, Erdmann C, Hedrich K, Kasten M, Hagenah J, Deuschl G, Pramstaller PP, Siebner HR. Motor reorganization in asymptomatic carriers of a single mutant Parkin allele: a human model for presymptomatic parkinsonism. Brain. 2005;128:2281-90. (abstract)

Hedrich K, Pramstaller PP, Stubke K, Hiller A, Kabakci K, Purmann S, Kasten M, Scaglione C, Schwinger E, Volkmann J, Kostic V, Vieregge P, Martinelli P, Abbruzzese G, Klein C, Zuhlke C. Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? Mov Disord. 2005;20:1060-2. (abstract)

Berg D, Niwar M, Maass S, Zimprich A, Möller JC, Wuellner U, Schmitz-Hübsch T, Klein C, Tan EK,  L Schöls L, Marsh L, Dawson TM, Janetzky B, Müller T, Woitalla D, Kostic V,  Pramstaller PP, Oertel W, Bauer P, Krueger R, Gasser T, Riess O. Alpha-synuclein and Parkinson's disease – implications from the screening of more than 1900 patients. Mov Disord. 2005;20:1191-4. (abstract)

Mueller JC, Lohmussaar E, Magi R, Remm M, Bettecken T, Lichtner P, Biskup S, Illig T, Pfeufer A, Luedemann J, Schreiber S, Pramstaller P, Pichler I, Romeo G, Gaddi A, Testa A, Wichmann HE, Metspalu A, Meitinger T. Linkage Disequilibrium Patterns and tagSNP Transferability among European Populations. Am J Hum Genet. 2005;76:387-98. (abstract)

(2004)

Roenneberg T, Kuehnle T, Pramstaller PP, Ricken J, Havel M, Guth A, Merrow M. A marker for the end of adolescence. Curr Biol. 2004;14:1038-9. (abstract)

Hedrich K; Eskelson C, Wilmot B3, Marder K, Harris J, Garrels J, Meija-Santana H, Vieregge P, Jacobs H, Bressman S, Lang AE1, Kann M, Abbruzzese G, Martinelli P, Schwinger E, Ozelius LJ, Pramstaller PP, Klein C, Kramer P. Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord. 2004;19:1146-57. (abstract)

Walter U, Klein C, Hilker R, Benecke R, Pramstaller PP, Dressler D. Brain parenchyma sonography detects preclinical parkinsonism. Mov Disord. 2004;19:1445-49. (abstract)

Brusa A, Stoehr R, Pramstaller PP. Progressive Supranuclear Palsy: New Disease or Variant of Postencephalitic Parkinsonism? Mov Disord. 2004;19:247-52. (abstract)

Kock N, Kasten M, Schüle B, Hedrich K, Wiegers K, Kabakci K, Pramstaller PP, Nitschke MS, Sperner J, Klein C. Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation. Mov Disord. 2004;19:231-34. (abstract)

Kabakci K, Hedrich K, Leung JC, Mitterer M, Vieregge P, Lencer R, Hagenah J, Garrels J, Witt K, Klostermann F, Svetel M, Friedman J, Kostic V, Bressman SB, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C. Mutations in DYT1: Extension of the phenotypic and mutational spectrum. Neurology 2004;62:395-400. (abstract)

Hedrich K, Djarmati A, Schäfer N, Hering R, Wellenbrock C, Weiss PH, Hilker R, Vieregge P, Ozelius LJ, Heutink P, Bonifati V, Schwinger E, Lang AE, Noth J, Bressman SB, Pramstaller PP, Riess O, Klein C. DJ-1 mutations are less frequent than Parkin mutations in early-onset Parkinson's disease. Neurology 2004;62:389-94. (abstract)

Hedrich K, Schäfer N, Hering R, Hagenah J, Lanthaler AJ, Schwinger E, Kramer PL, Ozelius LJ, Bressman S, Abbruzzese G, Martinelli P, Kostic V, Pramstaller PP, Vieregge P, Riess O, Klein C. The R98Q variation in DJ-1 represents a rare polymorphism. Ann Neurol. 2004; 55:145. (abstract)

(2003)

Karamohamed S, DeStefano AL, Wilk JB, Shoemaker CM, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Baker K, Lew M, Singer C, Watts R, Currie LJ, Wooten GF, Saint-Hilaire M, Feldman RG, Sullivan KM, Xu G, Perlmutter J, Racette B, Parsian A, Suchowersky O, Lafontaine AL, Labelle N, Growdon J, Vieregge P, Pramstaller P, Klein C, Stacy M, Gusella JF, Fink SJ, Myers RH, Herbert, A. A haplotype at the PARK3 locus influences onset age for Parkinson disease: The GenePD study. Neurology 2003;61:1557-61. (abstract)

Wellenbrock C, Hedrich K, Schafer N, Kasten M, Jacobs H, Schwinger E, Hagenah J, Pramstaller PP, Vieregge P, Klein C. NR4A2 mutations are rare among European patients with familial Parkinson's disease. Ann Neurol. 2003;54:415. (abstract)

Klein C, Hedrich K, Wellenbrock C, Kann M, Harris J, Marder K, Lang AE, Schwinger E, Ozelius LJ, Vieregge P, Pramstaller PP, Kramer PL. Frequency of parkin mutations in late-onset Parkinson's disease. Ann Neurol. 2003;54:415-416. (abstract)

(2002)

Müller B, Hedrich K, Kock N, Dragasevic N, Svetel M, Garrels J, Landt O, Nitschke P, Pramstaller PP, Reik W, Schwinger E, Sperner J, Ozelius L, Kostic V, Klein Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet 2002;71:1303-11. (abstract)

Klein C, Hedrich K, Kabakçi K, Mohrmann K, Wiegers K, Landt O, Hagenah J, Schwinger E, Pramstaller PP, Ozelius LJ, Gucuyener K, Aysun S, Demir E. Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia. Neurology 2002 10;59:1783-6. (abstract)

Kock N, Müller B, Vieregge P, Pramstaller PP, Marder K, Abbruzzese G, Martinelli P, Lang AE, Jacobs H, Hagenah J, Harris J, Meija-Santana H, Fahn S, Hedrich K, Kann M, Gehlken U, Culjkovic B, Schwinger E, Wszolek ZK, Zühlke C, Klein C. Role of SCA-2 mutations in early- and late-onset dopa-responsive parkinsonism. Ann Neurol 2002;52:257-8. (abstract)

Kock N, Culjkovic, Maniak S, Schilling K, Müller B, Zühlke C, Klein C, Pramstaller PP, Kramer PL. Mode of inheritance and susceptibility locus for restless legs syndrome on chromosome 12q. Am J Hum Genet 2002;71:205-8. (abstract)

Kis B, Schrag A, Ben-Shlomo Y, Klein C, Gasperi A, Spoegler F, Schoenhuber R, Pramstaller PP. Novel three-stage ascertainment method: Prevalence of PD and parkinsonism in South Tyrol, Italy. Neurology 2002;58: 1820-26.

Kann M, Vieregge P, Jacobs H, Mohrmann K, Schumacher K, Hedrich K, Garrels J, Schwinger E, Pramstaller PP, Breakefield XO, Ozelius LJ, Klein C. The role of parkin mutations in 111 community-derived patients with early-onset parkinsonism. Ann Neurol 2002;51:621-25.

Vitaliani R, Scaravilli T, Scaravilli F, An SF, Pramstaller PP. The pathology of the spinal cord in progressive supranuclear palsy. Neuropathol Appl Neurobiol 2002;28:149-150.

Hedrich K, Marder K,. Harris J., Kann M, Lynch T, Meija-Santana H, Pramstaller PP, Schwinger E, Bressman SB, Fahn S, Klein C. Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology 2002;58:1239-46.

Pramstaller PP, Kis B, Eskelson C, Hedrich K, Scherer M, Schwinger E, Breakefield XO, Kramer PL, Ozelius LJ, Klein C. Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene. Mov Disord 2002;17:424-26.

DeStefano Al,  Lew MF, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Waters CH, Singer C, Watts RL, Currie LJ, Wooten GF, Maher NE, Wilk JB, Sullivan KM, Slater KM, Saint-Hilaire MH, Feldman RG, Suchowersky O, Lafontaine A, Labelle A, Growdon JK, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Reider CR, Stacy M, MacDonald ME, Gusella J, Myers RH. PARK3 influences Parkinson's disease onset age: A genome scan in the GenePD Study. Am J Hum Genet 2002;70:1089-95.

Hilker R, Klein C, Hedrich K, Ozelius LJ, Vieregge P, Herholz K, Pramstaller PP, Heiss WD. The striatal dopaminergic deficit is dependent on the number of mutatnt alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans. Neurosci Lett 2002;323:50-54.

Vitaliani R, Scaravilli T, Egarter-Vigl E, Giometto B, Klein C, Scaravilli F, An SF, Pramstaller PP. The pathology of the spinal cord in progressive supranuclear palsy. J Neuropathol Exp Neurol 2002;61:268-74.

Pramstaller PP, Künig G, Leenders K, Kann M, Hedrich K, Goetz C, Vieregge P, Klein C. Mutations in the parkin gene associated with hemiparkinsonism-hemiatrophy: A clinical-genetic and PET study. Neurology 2002; 58:808-10.

Kann M, Hedrich K, Marder K, Harris J, Meija-Santana H, Vieregge P, Jacobs H, Müller B, Kock N, Bressman SB, Lang AE, Schwinger E, Ozelius LJ, Pramstaller PP, Klein C. The parkin gene is not involved in late-onset Parkinson's disease. Neurology 2002;58:835.

Muenchau A, Orth M, Rothwell JC, Di Lazzaro V, Oliviero A, Profice P, Tonali P, Pramstaller PP, Bhatia KP. Intracortical inhibition is reduced in a patient with a lesion in the posterolateral thalamus. Mov Disord 2002;17:208-12.

Maher NE, Golbe LI, Lazzarini AM, Mark MH, Currie LJ, Wooten GF, Saint-Hilaire M, Wilk JB, Volcjak J, Mahre JE, Feldman RG, Guttman M, Lew M, Schuman S, Suchowersky O, Lafontaine AL, Labelle N, Vieregge P, Pramstaller PP, Klein C, Hubble J, Reider C, Growdon J, Watts R, Montgomery E, Baker K, Singer C, Stacy M, Myers RH. Clinical and epidemiological analysis of 203 sibling pairs with Parkinson's disease: The Gene PD Study. Neurology 2002;58:79-84.

(2001)

Piccini P, DeYebenez J, Lees AJ, Ceravolo R, Turjanski N, Pramstaller PP, Brooks DJ. Familial progressive supranuclear palsy: detection of subclinical cases using 18F-dopa and 18FDG PET. Arch Neurol. 2001;58:1846-51.

DeStefano AL, Golbe LI, Mark M, Lazzarini AM, Maher NE, Saint-Hilaire MH, Feldman RG, Guttman M, Watts RL, Suchowersky O, Lafontaine AL, Labelle N, Lew MF, Waters CH, Growdon JH, Singer C, Currie LJ, Wooten GF, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Stacy M, Montgomery E, MacDonald ME, Gusella JF, Myers RH. Genome-wide scan for Parkinson's Disease: The GenePD Study. Neurology 2001;57:1124-6.

Leung JC, Klein C, Friedman J, Vieregge P, Jacobs H, Doheny D, Kamm C, DeLeon D, Pramstaller PP, Penney JB, Eisengart M, Jankovic J, Gasser T, Bressman SB, Corey DP, Kramer P, Brin MF, Ozelius LJ, Breakefield XO. Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001;3:133-43.

Hedrich K, Kann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O, Schwinger E, Vieregge P, Lang, AE, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C. The importance of gene dosage studies: Mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 2001;10:1649-56.

Hilker R, Klein C, Ghaemi M, Kis B, Strotmann T, Ozelius LJ, Lenz O, Vieregge P, Herholz K, Heiss WD, Pramstaller PP. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann Neurol 2001;49:367-76.

(2000)

Brusa A, Pramstaller PP. Ante litteram description of atypical parkinsonian cases. Neurol Sci 2000;21:407-9.

Klein C, Kann M, Kis B, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P. The genetics of dystonia. Nervenarzt 2000;71 431-41.

Klein C, Schumacher K, Jacobs J, Hagenah J, Kis B, Garrels J, Schwinger E, Ozelius LO, Pramstaller PP, Vieregge P, Kramer PL. Association studies of Parkinson's disease and parkin polymorphisms. Ann Neurol 2000; 48:126-27.

Scaravilli T, Pramstaller PP, Salerno A, Egarter-Vigl E, Giometto B, Vitaliani R, An SF, Revesz T. Neuronal loss in Onuf's nucleus in three patients with progressive supranuclear palsy. Ann Neurol 2000;48:97-101.

Klein C, Pramstaller PP, Kis B, Page CC, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 2000; 48:65-71.

Di Maria E, Tabaton M, Vigo T, Abbruzzese G, Bellone E, Donati C, Frasson E, Marchese R, Montagna P, Munoz DG, Pramstaller PP, Zanusso G, Ajmar F, Mandich P. Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy. Ann Neurol 2000; 47:374-77.

(1999)

Klein C, Friedman J, Bressman S, Vieregge P, Brin MF, Pramstaller PP, de Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, Breakefield XO, Ozelius LJ, Sims KB. Genetic testing for early-onset torsion dystonia (DYT1): Introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. Genet Test 1999; 4:323-28.

Pramstaller PP, Salerno A, Bhatia KP, Prugger M. Marsden CD. Primary central nervous system lymphoma (PCNS) presenting with a parkinsonian syndrome of pure akinesia. J Neurol 1999; 246:934-38.

Whurr R, Bhatia K, Masarie A, Lorch M, Kingsley K, Pramstaller PP, Srinivasan AV, Marsden CD. The incidence and nature of dysphagia following botulinum toxin injections for torticollis: a prospective study of 123 patients. J Medical Speech-Language Pathology 1999;7:195-207.

Rojo A, Pernaute RS,  Fontán A, Ruíz PG,  Honnorat J, Lynch T, Chin S, Gonzalo I, Rábano A, Martínez A, Daniel S, Pramstaller PP, Morris H, Wood N, Lees A, Tabernero C, T Nygaard, Jackson AC, Hanson A, de Yébenes JG. Clinical genetics of familial progressive supranuclear palsy. Brain 1999;122:1233-45.

Pramstaller PP, Falk M, Schoenhuber R, Poewe W. Validation of a mail questionnaire for parkinsonism in two languages (German and Italian). J Neurol 1999;246:79-86.

(1998)

Klein C, Pramstaller PP, Castellan CC, Breakefield XO, Kramer PL, Ozelius LJ. Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol. Ann Neurol. 1998;44:394-98.

(1997)

Wenning GK, Pramstaller PP, Ransmayr G, Poewe W. Atypical Parkinson syndrome. Nervenarzt 1997;68:102-15.

Leiguarda RC, Pramstaller PP, Merello M, Starkstein S, Lees AJ, Marsden CD. Apraxia in Parkinson's disease, progressive supranuclear palsy, multiple system atrophy and neurolepic-induced parkinsonism. Brain, 1997; 120:75-90.

(1996)

Pramstaller PP, Lees AJ, Luxon LM. Possible clinical overlap between postencephalitic parkinsonism and progressive supranuclear palsy. J Neurol Neurosurg Psychiatry 1996;60:589-90.

Pramstaller PP, Marsden CD. The Basal Ganglia and Apraxia. Brain 1996;119:319-40.

(1995)

Pramstaller PP, Wenning GK, Beck R, Quinn NP, Fowler CJ. Nerve conduction studies, skeletal muscle EMG and sphincter EMG in multiple system atrophy. J Neurol Neurosurg Psychiatry 1995;58:618-21.

Pramstaller PP, Wenning GK, Granata R, Quinn NP. Atrofia multisistemica. Caratteristiche di un parkinsonismo atipico. Nuova Riv di Neurologia 1995;5:111-16.