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Short report
Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations
  1. J M Hagenah1,
  2. B Becker1,
  3. N Brüggemann1,
  4. A Djarmati1,2,
  5. K Lohmann1,2,
  6. A Sprenger1,
  7. C Klein1,2,
  8. G Seidel1
  1. 1
    Department of Neurology, University of Lübeck, Lübeck, Germany
  2. 2
    Department of Human Genetics, University of Lübeck, Lübeck, Germany
  1. Dr J Hagenah, Department of Neurology, University of Lübeck, Ratzeburger Allee 160, D-23538 Lübeck, Germany; johann.hagenah{at}neuro.uni-luebeck.de

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.

https://doi.org/10.1136/jnnp.2007.142174

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    Footnotes

    • Competing interests: None.

    • Ethics approval: Ethics approval was obtained.

    • Patient consent: Obtained.