Objective: The main objective of this work is to present two Parkinson’s disease (PD) patients with heterozygous mutations in the Parkin gene (PARK – parkin) and their phenotypic variability.

Background: Mutations in the Parkin gene are the most frequent cause of autosomal recessive juvenile PD. Although carriers of heterozygous mutations in this gene have been classically considered as being only at an increased risk of developing PD, the pathogenic role of these mutations has sparked interest and extensive research in recent years.

Method: To carry out this work, we reviewed the clinical records, both paper-based and in digital form, of two outpatients followed in our movement disorders clinic at Centro Hospitalar e Universitário de Coimbra, E.P.E..

Results: Case A: 53-year-old woman with resting tremor and bradykinesia in the right upper limb since the age of 47. There was a good initial response to levodopa, but motor symptoms evolved rapidly, with the appearance of axial signs at 48 years of age. The development of severe motor fluctuations, which were difficult to control with oral therapy, warranted the initiation of continuous subcutaneous apomorphine infusion at the age of 52.

Case B: 64-year-old woman with bradykinesia and rigidity in the left upper limb since the age of 48. Response to levodopa was excellent, and the patient presented a slowly progressive clinical evolution.

Conclusion: This study suggests that heterozygous mutations in the Parkin gene are not only a risk factor for PD, but most likely have a pathogenic role that is not yet fully understood. The two patients presented demonstrate that phenotypic variability is not only a feature of idiopathic PD, but also of genetic forms, raising the possibility of other contributing pathogenic factors.

« Back to 2022 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/heterozygous-mutations-in-the-parkin-gene-two-different-presentations-of-parkinsons-disease/