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This Article Full Text Full Text (PDF) All Versions of this Article: jnnp.2007.142174v1 79/9/1071    most recent Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Google Scholar Articles by Hagenah, J M Articles by Seidel, G PubMed PubMed Citation Articles by Hagenah, J M Articles by Seidel, G

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

¹ Department of Neurology, University of Lübeck, Lübeck, Germany
² Department of Human Genetics, University of Lübeck, Lübeck, Germany

Correspondence to:
Dr J Hagenah, Department of Neurology, University of Lübeck, Ratzeburger Allee 160, D-23538 Lübeck, Germany; johann.hagenah{at}neuro.uni-luebeck.de

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.