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Research Article
Co-Occurrence of Pink1 and Prkn Mutations in a Family: From Isolated Action Tremor to Early Onset Parkinsonism
Author(s): Anna De R, Silvio P, Fiore M, Giovanna De M, Leonilda B, Francesco S, Chiara C and Giuseppe De MAnna 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... Read More»
Journal of Clinical Neurology and Neurosurgery received 1 citations as per Google Scholar report
