title: Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations.
abstract: OBJECTIVE
  To investigate substantia nigra (SN) echogenicity in members of a family with homozygous and heterozygous PTEN induced kinase (PINK1) mutations with or without signs of Parkinson's disease (PD).
  
  
  METHODS
  Transcranial sonography (TCS) was used to investigate 20 members of a family with PINK1 mutations, including four homozygous and 11 heterozygous mutation carriers and five individuals with no mutation. For comparison, a healthy control group of 18 subjects without a positive family history of PD (control group) and a healthy control group of 15 subjects with a positive family history of sporadic PD (relative group) were investigated. For statistical analysis, the larger area of the two SNs echogenicity (aSNmax) of each individual was selected.
  
  
  RESULTS
  A significantly increased aSNmax was found for all subgroups compared with the control group. The group of homozygous carriers of a PINK1 mutation had a significantly increased aSNmax compared with all of the other subgroups, except the group of heterozygous mutation carriers.
  
  
  CONCLUSIONS
  These findings in carriers of a PINK1 mutation are comparable with those in carriers of Parkin mutations and non-genetic PD. The increased aSNmax in family members without a mutation suggests an additional contributing factor independent of the PINK1 mutation that may also play a role in relatives of patients with sporadic PD.
authors.affiliation: Department of Neurology, University of Lübeck, Ratzeburger Allee 160, D-23538 Lübeck, Germany. johann.hagenah@neuro.uni-luebeck.de
authors.forename: J M
authors.initials: JM
authors.lastname: Hagenah
authors.forename: B
authors.initials: B
authors.lastname: Becker
authors.forename: N
authors.initials: N
authors.lastname: Brüggemann
authors.forename: A
authors.initials: A
authors.lastname: Djarmati
authors.forename: K
authors.initials: K
authors.lastname: Lohmann
authors.forename: A
authors.initials: A
authors.lastname: Sprenger
authors.forename: C
authors.initials: C
authors.lastname: Klein
authors.forename: G
authors.initials: G
authors.lastname: Seidel
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000000981:diagnostic imaging* / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D011494:Protein Kinases / Q000235:genetics*; D013378:Substantia Nigra / Q000000981:diagnostic imaging*; D014463:Ultrasonography; D000099202:PTEN-Induced Putative Kinase
chemical_list: D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase