Now showing items 21-40 of 410

    • Genetic structure in contemporary south Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms 

      Pichler I; Mueller JC; Stefanov SA; De Grandi A; Volpato CB; Pinggera GK; Mayr A; Ogriseg M; Ploner F; Meitinger T; Pramstaller PP (2006)
      Most of the inhabitants of South Tyrol in the eastern Italian Alps can be considered isolated populations because of their physical separation by mountain barriers and their sociocultural heritage. We analyzed the genetic ...
    • Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolate 

      Vogl FD; Pichler I; Adel S; Pinggera GK; Bracco S; De Grandi A; Volpato CB; Aridon P; Mayer T; Meitinger T; Klein C; Casari G; Pramstaller PP (2006)
      Genetic contributions to restless legs syndrome (RLS) have been consistently recognized from population and family studies. To determine the clinical and genetic features of RLS in a population isolate and explore linkage ...
    • Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography 

      Hagenah JM; Hedrich K; Becker B; Pramstaller PP; Seidel G; Klein C (2006)
    • Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate 

      Pichler I; Marroni F; Volpato CB; Gusella JF; Klein C; Casari G; De Grandi A; Pramstaller PP (2006)
      Restless legs syndrome (RLS) is a common neurological condition with three loci (12q, 14q, and 9p) described so far, although none of these genes has yet been identified. We report a genomewide linkage scan of patients ...
    • Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease 

      Hedrich K; Winkler S; Hagenah J; Kabakci K; Kasten M; Schwinger E; Volkmann J; Pramstaller PP; Kostic V; Vieregge P; Klein C (2006)
      Mutations in LRRK2 (leucine-rich repeat kinase 2) have been associated with autosomal dominant Parkinson's disease (PD) and cluster in several 3' exons of the gene. The majority of mutations have been detected in late-onset ...
    • Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations 

      Helmchen C; Schwekendiek A; Pramstaller PP; Hedrich K; Klein C; Rambold H (2006)
      We investigated saccades, eyelid blinks, and their interaction in symptomatic (n = 22) and asymptomatic (n = 31) subjects with (n = 19) and without (n = 34) Parkin mutations. Saccadic hypometria was correlated with clinical ...
    • Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study 

      Wilk JB; Tobin JE; Suchowersky O; Shill HA; Klein C; Wooten GF; Lew MF; Mark MH; Guttman M; Watts RL; Singer C; Growdon JH; Latourelle JC; Saint-Hilaire MH; DeStefano AL; Prakash R; Williamson S; Berg CJ; Sun M; Goldwurm S; Pezzoli G; Racette BA; Perlmutter JS; Parsian A; Baker KB; Giroux ML; Litvan I; Pramstaller PP; Nicholson G; Burn DJ; Chinnery PF; Vieregge P; Slevin JT; Cambi F; MacDonald ME; Gusella JF; Myers RH; Golbe LI (2006)
      BACKGROUND: Polymorphisms in the glutathione S-transferase pi gene (GSTP1), encoding GSTP1-1, a detoxification enzyme, may increase the risk of Parkinson disease (PD) with exposure to pesticides. Using the GenePD Study ...
    • Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study 

      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 (2006)
      BACKGROUND: The PARK2 gene at 6q26 encodes parkin, whose inactivation is implicated in an early-onset autosomal recessive form of Parkinson disease (PD). OBJECTIVE: To evaluate the influence of heterozygosity for parkin ...
    • Sensorimotor integration is abnormal in asymptomatic Parkin mutation carriers: a TMS study 

      Bäumer T; Pramstaller PP; Siebner HR; Schippling S; Hagenah J; Peller M; Gerloff C; Klein C; Münchau A (2007)
      BACKGROUND: In patients with Parkinson disease (PD), transcranial magnetic stimulation (TMS) studies have consistently demonstrated a reduced inhibitory tone in the sensorimotor cortex. It remains unclear whether this is ...
    • Family-based association study of the restless legs syndrome loci 2 and 3 in a European population 

      Kemlink D; Polo O; Montagna P; Provini F; Stiasny-Kolster K; Oertel W; de Weerd A; Nevsimalova S; Sonka K; Högl B; Frauscher B; Poewe W; Trenkwalder C; Pramstaller PP; Ferini-Strambi L; Zucconi M; Konofal E; Arnulf I; Hadjigeorgiou GM; Happe S; Klein C; Hiller A; Lichtner P; Meitinger T; Müller-Myshok B; Winkelmann J (2007)
      Three loci for the restless legs syndrome (RLS) on chromosomes 12q, 14q, and 9p (RLS1, RLS2, and RLS3) have been mapped, but no gene has been identified as yet. RLS1 has been confirmed in families from three different ...
    • Clinical trials in restless legs syndrome--recommendations of the European RLS Study Group (EURLSSG) 

      Trenkwalder C; Kohnen R; Allen RP; Benes H; Ferini-Strambi L; Garcia-Borreguero D; Hadjigeorgiou GM; Happe S; Högl 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 (2007)
      The European Restless Legs Syndrome (RLS) Study Group (EURLSSG) is an association of European RLS experts who are actively involved in RLS research. A major aim of the Study Group is the development and continuous improvement ...
    • Genetics of restless legs syndrome (RLS): State-of-theart and future directions 

      Winkelmann J; Polo O; Provini F; Nevsimalova S; Kemlink D; Sonka K; Högl B; Poewe W; Stiasny-Kolster K; Oertel W; de Weerd A; Strambi LF; Zucconi M; Pramstaller PP; Arnulf I; Trenkwalder C; Klein C; Hadjigeorgiou GM; Happe S; Rye D; Montagna P (2007)
      Several studies demonstrated that 60% of restless legs syndrome (RLS) patients have a positive family history and it has been suggested that RLS is a highly hereditary trait. To date, several loci have been mapped but no ...
    • Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia 

      Binkofski F; Reetz K; Gaser C; Hilker R; Hagenah J; Hedrich K; van Eimeren T; Thiel A; Büchel C; Pramstaller PP; Siebner HR; Klein C (2007)
      BACKGROUND: Mutations in the Parkin and PINK1 genes can cause parkinsonism. Since asymptomatic carriers of a single mutant allele of the Parkin or PINK1 gene display a presynaptic dopaminergic dysfunction in the striatum, ...
    • Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles 

      Hagenah JM; König IR; Becker B; Hilker R; Kasten M; Hedrich K; Pramstaller PP; Klein C; Seidel G (2007)
      To further evaluate (1) transcranial sonography (TCS) for (pre)clinical diagnosis of Parkinson's disease (PD) and (2) to examine asymptomatic carriers of Parkin mutations we investigated substantia nigra (SN) hyperechogenicity ...
    • Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification 

      Djarmati A; Guzvić M; Grünewald A; Lang AE; Pramstaller PP; Simon DK; Kaindl AM; Vieregge P; Nygren AO; Beetz C; Hedrich K; Klein C (2007)
      Because of the occurrence of different types of mutations, comprehensive genetic testing for Parkinson's disease (PD), dopa-responsive dystonia (DRD), and myoclonus-dystonia (M-D) should include screening for small sequence ...
    • The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives 

      Pattaro C; Marroni F; Riegler A; Mascalzoni D; Pichler I; Volpato CB; Dal Cero U; De Grandi A; Egger C; Eisendle A; Fuchsberger C; Gögele M; Pedrotti S; Pinggera GK; Stefanov SA; Vogl FD; Wiedermann CJ; Meitinger T; Pramstaller PP (2007)
      BACKGROUND: There is increasing evidence of the important role that small, isolated populations could play in finding genes involved in the etiology of diseases. For historical and political reasons, South Tyrol, the ...
    • Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study 

      McNicoll CF; Latourelle JC; MacDonald ME; Lew MF; Suchowersky O; Klein C; Golbe LI; Mark MH; Growdon JH; Wooten GF; Watts RL; Guttman M; Racette BA; Perlmutter JS; Ahmed A; Shill HA; Singer C; SaintHilaire MH; Massood T; Huskey KW; DeStefano AL; Gillis T; Mysore J; Goldwurm S; Pezzoli G; Baker KB; Itin I; Litvan I; Nicholson G; Corbett A; Nance M; Drasby E; Isaacson S; Burn DJ; Chinnery PF; Pramstaller PP; Al-Hinti J; Moller AT; Ostergaard K; Sherman SJ; Roxburgh R; Snow B; Slevin JT; Cambi F; Gusella JF; Myers RH (2008)
      The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis ...
    • Replication of association between ELAVL4 and Parkinson disease: the GenePD study 

      DeStefano AL; Latourelle J; Lew MF; Suchowersky O; Klein C; Golbe LI; Mark MH; Growdon JH; Wooten GF; Watts R; Guttman M; Racette BA; Perlmutter JS; Marlor L; Shill HA; Singer C; Goldwurm S; Pezzoli G; Saint-Hilaire MH; Hendricks AE; Gower A; Williamson S; Nagle MW; Wilk JB; Massood T; Huskey KW; Baker KB; Itin I; Litvan I; Nicholson G; Corbett A; Nance M; Drasby E; Isaacson S; Burn DJ; Chinnery PF; Pramstaller PP; Al-Hinti J; Moller AT; Ostergaard K; Sherman SJ; Roxburgh R; Snow B; Slevin JT; Cambi F; Gusella JF; Myers RH (2008)
      Genetic variants in embryonic lethal, abnormal vision, Drosophila-like 4 (ELAVL4) have been reported to be associated with onset age of Parkinson disease (PD) or risk for PD affection in Caucasian populations. In the current ...
    • Adapted Finnish Migraine-Specific Questionnaire for family studies (FMSQ(FS)): a validation study in two languages 

      Facheris MF; Vogl FD; Hollmann S; Sixt G; Pattaro C; Schönhuber R; Pramstaller PP (2008)
      BACKGROUND AND PURPOSE: The hypothesis of a genetic component in the etiology of migraine is getting a foothold. However, to explore genetic associations, precision in clinical phenotypization is crucial. For this reason, ...
    • Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13 

      Kemlink D; Plazzi G; Vetrugno R; Provini F; Polo O; Stiasny-Kolster K; Oertel W; Nevsimalova S; Sonka K; Högl B; Frauscher B; Hadjigeorgiou GM; Pramstaller PP; Lichtner P; Meitinger T; Müller-Myshok B; Winkelmann J; Montagna P (2008)
      Five loci for restless legs syndrome (RLS) on chromosomes 12q, 14q, 9p, 2q, and 20p (RLS1-RLS5) have been mapped in RLS families, with a recessive in the first and autosomal-dominant mode of inheritance in the latter cases. ...