title: Transcranial ultrasound in different monogenetic subtypes of Parkinson's disease.
abstract: Hyperechogenicity of the substantia nigra (SN) has been found to be a typical sign in idiopathic Parkinson's disease (PD), prevalent in more than 90% of affected individuals. To see whether SN hyperechogenicity is also characteristic for monogenetically caused PD, we investigated PD patients with alpha-synuclein, LRRK2, parkin, PINK1 and DJ-1 mutations by transcranial sonography (TCS). In all these patients the area of SN echogenicity was significantly larger than in healthy controls, but smaller, than in idiopathic PD. As SN hyperechogenicity could be related to an increased iron content of the SN, these findings suggest that iron may play a less significant role in the pathogenesis of monogenetically caused compared to idiopathic PD.
authors.affiliation: Hertie Institute for Clinical Brain Research, University of Tuebingen, Hoppe-Seyler-Str.3, 72076, Tuebingen, Germany.
authors.forename: Katherine J
authors.initials: KJ
authors.lastname: Schweitzer
authors.forename: Theresa
authors.initials: T
authors.lastname: Brüssel
authors.forename: Petra
authors.initials: P
authors.lastname: Leitner
authors.forename: Rejko
authors.initials: R
authors.lastname: Krüger
authors.forename: Peter
authors.initials: P
authors.lastname: Bauer
authors.forename: Dirk
authors.initials: D
authors.lastname: Woitalla
authors.forename: Jürgen
authors.initials: J
authors.lastname: Tomiuk
authors.forename: Thomas
authors.initials: T
authors.lastname: Gasser
authors.forename: Daniela
authors.initials: D
authors.lastname: Berg
mesh_terms: D000368:Aged; D005260:Female; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D009154:Mutation; D010300:Parkinson Disease / Q000145:classification* / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D011494:Protein Kinases / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D013378:Substantia Nigra / Q000000981:diagnostic imaging / Q000473:pathology; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D017585:Ultrasonography, Doppler, Transcranial / Q000379:methods*; D051844:alpha-Synuclein / Q000235:genetics; D000099202:PTEN-Induced Putative Kinase
chemical_list: D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D011494:Protein Kinases; D017346:Protein Serine-Threonine Kinases; D044767:Ubiquitin-Protein Ligases; D051844:alpha-Synuclein; D000099202:PTEN-Induced Putative Kinase; C111567:parkin protein; C495280:LRRK2 protein, human