Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations

J Neurol Neurosurg Psychiatry. 2008 Sep;79(9):1071-4. doi: 10.1136/jnnp.2007.142174. Epub 2008 May 9.

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.

MeSH terms

  • Adult
  • Aged
  • Female
  • Heterozygote*
  • Homozygote*
  • Humans
  • Male
  • Middle Aged
  • Parkinson Disease / diagnostic imaging*
  • Parkinson Disease / genetics*
  • Point Mutation / genetics*
  • Protein Kinases / genetics*
  • Substantia Nigra / diagnostic imaging*
  • Ultrasonography

Substances

  • Protein Kinases
  • PTEN-induced putative kinase