臨床神経学および脳神経外科ジャーナル

Co-Occurrence of Pink1 and Prkn Mutations in a Family: From Isolated Action Tremor to Early Onset Parkinsonism

Abstract

Anna De R, Silvio P, Fiore M, Giovanna De M, Leonilda B, Francesco S, Chiara C and Giuseppe De M

PRKN and PINK1 genes mutations represent the most common cause of autosomal recessive early onset Parkinson’s disease (EOPD). We describe coexistence of both genes mutations and apparently dominant Parkinsonism in a family. Two sisters, presenting parental consanguinity and EOPD, carried a homozygous PINK1 deletion and a heterozygous missense PRKN mutation. Their father had late onset PD and resulted compound heterozygous for both mutations. The mother presented action tremor and harbored only one PINK1 deletion. Late onset Parkinsonism in the father could be related to the combination of heterozygous variants in both genes that might lower the threshold of the disease.