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Transcranial sonography findings in a large family with homo-and heterozygous PINK1 mutations
  1. Johann M Hagenah (johann.hagenah{at}neuro.uni-luebeck.de)
  1. University of Luebeck, Germany
    1. Björn Becker (bjoern.becker{at}usz.ch)
    1. University of Luebeck, Germany
      1. Norbert Brueggemann (norbert.brueggemann{at}neuro.uni-luebeck.de)
      1. University of Luebeck, Germany
        1. Ana Djarmati (ana.djarmati{at}neuro.uni-luebeck.de)
        1. University of Luebeck, Germany
          1. Katja Lohmann (katja.lohmann{at}neuro.uni-luebeck.de)
          1. University of Luebeck, Germany
            1. Andreas Sprenger (andreas.sprenger{at}neuro.uni-luebeck.de)
            1. University of Luebeck, Germany
              1. Christine Klein (christine.klein{at}neuro.uni-luebeck.de)
              1. University of Luebeck, Germany
                1. Guenter Seidel (guenter.seidel{at}neuro.uni-luebeck.de)
                1. University of Schleswig-Holstein, Campus Lübeck, Germany

                  Abstract

                  Objective: To investigate substantia nigra (SN) echogenicity in members of a family with homozygous and heterozygous PINK1 mutations with or without signs of Parkinson’s disease (PD).

                  Methods: Transcranial sonography (TCS) was employed to investigate 20 members of a family with PINK1 mutations including four homozygous and eleven 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 to the control group. The group of homozygous carriers of a PINK1 mutation had a significantly increased aSNmax compared to all other subgroups, except the group of heterozygous mutation carriers.

                  Conclusions: Our findings in carriers of a PINK1 mutation are comparable to findings in carriers of Parkin mutations and nongenetic 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 sporadic PD patients.

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