Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations
- J M Hagenah1,
- B Becker1,
- N Brüggemann1,
- A Djarmati1,2,
- K Lohmann1,2,
- A Sprenger1,
- C Klein1,2,
- G Seidel1
- 1 Department of Neurology, University of Lübeck, Lübeck, Germany
- 2 Department of Human Genetics, University of Lübeck, Lübeck, Germany
- Dr J Hagenah, Department of Neurology, University of Lübeck, Ratzeburger Allee 160, D-23538 Lübeck, Germany;
- Received 11 December 2008
- Revised 2 April 2008
- Accepted 7 April 2008
- Published Online First 9 May 2008
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.
Competing interests: None.
Ethics approval: Ethics approval was obtained.
Patient consent: Obtained.