Now showing items 1-20 of 410

    • Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation 

      Kock N; Kasten M; Schüle B; Hedrich K; Wiegers K; Kabakci K; Hagenah J; Pramstaller PP; Nitschke MF; Münchau A; Sperner J; Klein C (2004)
      Many cases of myoclonus-dystonia (M-D) are caused by mutations in the epsilon-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of ...
    • Brain parenchyma sonography detects preclinical parkinsonism 

      Walter U; Klein C; Hilker R; Benecke R; Pramstaller PP; Dressler D (2004)
      Substantia nigra (SN) hyperechogenicity on brain parenchyma sonography (BPS) is highly characteristic for idiopathic PD. We studied 7 symptomatic and 7 asymptomatic parkin mutation carriers (PMC) from a large kindred with ...
    • DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease 

      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 (2004)
      BACKGROUND: Mutations in the Parkin gene (PARK2) are the most commonly identified cause of recessively inherited early-onset Parkinson disease (EOPD) but account for only a portion of cases. DJ-1 (PARK7) was recently ...
    • Mutations in DYT1: extension of the phenotypic and mutational spectrum 

      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 (2004)
      BACKGROUND: Most cases of early-onset primary torsion dystonia (PTD) are caused by the same three-base pair (bp) (GAG) deletion in the DYT1 gene. Exon rearrangements are a common mutation type in other genes and have not ...
    • Distribution, type, and origin of Parkin mutations: review and case studies 

      Hedrich K; Eskelson C; Wilmot B; Marder K; Harris J; Garrels J; Meija-Santana H; Vieregge P; Jacobs H; Bressman SB; Lang AE; Kann M; Abbruzzese G; Martinelli P; Schwinger E; Ozelius LJ; Pramstaller PP; Klein C; Kramer P (2004)
      Early-onset Parkinson's disease (PD) has been associated with different mutations in the Parkin gene (PARK2). To study distribution and type of Parkin mutations, we carried out a comprehensive literature review that ...
    • Progressive supranuclear palsy: new disease or variant of postencephalitic parkinsonism? 

      Brusa A; Stoehr R; Pramstaller PP (2004)
      We review the etiological importance of the epidemic encephalitis for progressive supranuclear palsy (PSP) and addresses the question of whether the explosion of PSP literature in the mid-20th century reflects the appearance ...
    • A marker for the end of adolescence 

      Roenneberg T; Kuehnle T; Pramstaller PP; Ricken J; Havel M; Guth A; Merrow M (2004)
      Between childhood and adulthood, we go through puberty and adolescence. While the end of puberty is defined as the point of cessation of bone growth (epiphyseal closure; girls: 16 y; boys: 17.5 y), the end of adolescence ...
    • The R98Q variation in DJ-1 represents a rare polymorphism 

      Hedrich K; Schäfer N; Hering R; Hagenah J; Lanthaler AJ; Schwinger E; Kramer PL; Ozelius LJ; Bressman SB; Abbruzzese G; Martinelli P; Kostic V; Pramstaller PP; Vieregge P; Riess O; Klein C (2004)
    • Oculogyric dystonic states in early-onset parkinsonism with basal ganglia calcifications 

      Kis B; Hedrich K; Kann M; Schwinger E; Kömpf D; Klein C; Pramstaller PP (2005)
    • 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 

      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 (2005)
      Parkinson's disease (PD) is a neurodegenerative disorder in which relatives of the probands are affected approximately 4 times as frequently as relatives of control subjects. Several genes have been implicated as genetic ...
    • PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism 

      Klein C; Djarmati A; Hedrich K; Schäfer N; Scaglione C; Marchese R; Kock N; Schüle B; Hiller A; Lohnau T; Winkler S; Wiegers K; Hering R; Bauer P; Riess O; Abbruzzese G; Martinelli P; Pramstaller PP (2005)
      Recessively inherited early-onset parkinsonism (EOP) has been associated with mutations in the Parkin, DJ-1, and PINK1 genes. We studied the prevalence of mutations in all three genes in 65 Italian patients (mean age of ...
    • Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers 

      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 (2005)
      We report the clinical, genetic, and neuropathological findings of a seven generation-spanning pedigree with 196 individuals, 25 of whom had levodopa-responsive parkinsonism. Genetic analyses indicated Parkin mutations in ...
    • Motor reorganization in asymptomatic carriers of a single mutant Parkin allele: a human model for presymptomatic parkinsonism 

      Buhmann C; Binkofski F; Klein C; Büchel C; van Eimeren T; Erdmann C; Hedrich K; Kasten M; Hagenah J; Deuschl G; Pramstaller PP; Siebner HR (2005)
      Mutations in the Parkin gene are the most common known single cause of early-onset parkinsonism. It has been shown that asymptomatic carriers with a single mutant allele have latent presynaptic dopaminergic dysfunction in ...
    • BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study 

      Karamohamed S; Latourelle JC; Racette BA; Perlmutter JS; Wooten GF; Lew M; Klein C; Shill H; Golbe LI; Mark MH; Guttman M; Nicholson G; Wilk JB; Saint-Hilaire M; DeStefano AL; Prakash R; Tobin S; Williamson J; Suchowersky O; Labell N; Growdon BN; Singer C; Watts R; Goldwurm S; Pezzoli G; Baker KB; Giroux ML; Pramstaller PP; Burn DJ; Chinnery P; Sherman S; Vieregge P; Litvan I; Gusella JF; Myers RH; Parsian A (2005)
      Brain-derived neurotrophic factor (BDNF) stimulates neuronal growth and protects nigral dopamine neurons in animal models of Parkinson disease (PD). Therefore, BDNF is a candidate gene for PD. The authors investigated five ...
    • Linkage disequilibrium patterns and tagSNP transferability among European populations 

      Mueller JC; Lõhmussaar E; Mägi 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 (2005)
      The pattern of linkage disequilibrium (LD) is critical for association studies, in which disease-causing variants are identified by allelic association with adjacent markers. The aim of this study is to compare the LD ...
    • Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? 

      Hedrich K; Pramstaller PP; Stübke 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; Zühlke C (2005)
      Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673 individuals with and without parkinsonism and detected 3 premutation ...
    • Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients 

      Berg D; Niwar M; Maass S; Zimprich A; Möller JC; Wuellner U; Schmitz-Hübsch T; Klein C; Tan EK; Schöls L; Marsh L; Dawson TM; Janetzky B; Müller T; Woitalla D; Kostic V; Pramstaller PP; Oertel WH; Bauer P; Krueger R; Gasser T; Riess O (2005)
      Data on the frequency of alpha-synuclein mutations in Parkinson's disease (PD) are limited. Screening the entire coding region in 1,921 PD patients with denaturing high performance liquid chromatography and subsequent ...
    • Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease? 

      Djarmati A; Hedrich K; Svetel M; Lohnau T; Schwinger E; Romac S; Pramstaller PP; Kostić V; Klein C (2006)
      PINK1 mutations cause recessively inherited early-onset Parkinson's disease (EOPD). We comprehensively tested 75 Serbian and 17 South Tyrolean EOPD patients for mutations in this gene and found three heterozygous mutation ...
    • Co-occurrence of restless legs syndrome and Parkin mutations in two families 

      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 (2006)
      Recent studies have suggested an association between restless legs syndrome (RLS) and Parkinson's disease (PD). We present a large multigenerational family and a smaller family with RLS. A Parkin mutation was found in 10 ...
    • Population isolates in South Tyrol and their value for genetic dissection of complex diseases 

      Marroni F; Pichler I; De Grandi A; Volpato CB; Vogl FD; Pinggera GK; Bailey-Wilson JE; Pramstaller PP (2006)
      The study of genetic isolates is a promising approach for the study of complex genetic traits. The small and constant population size, lack of migration, and multiple relationships between individuals in the isolate ...