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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