A Case Report on a Novel PINK1 Gene Mutation in a Female with a Neurodegenerative Disorder

Abstract

Introduction: Parkinson's disease (PD) is a progressive neurological disorder that affects both motor and non-motor skills in an individual. Both familial and sporadic cases of PD can be caused by mutations in the LRRK2, PARK7, PINK1, PRKN, or SNCA genes. However, mutations in genes PINK1 and LRRK2 are associated with early onset PD. Case presentation: This study reports an 18-year-old female with early onset PD, where whole-exome sequencing showed a pathogenic missense variant p.R88W in the PINK1 gene (NM_032409.2) resulting in the disease condition. Conclusion: For cases like neurodegenerative disorders confirmed by an MRI or CT scan, it is always advisable to perform whole-exome sequencing or next-generation sequencing to detect the genes associated with the disease. Depending on the type of the symptoms, medication along with physical therapy can be advised to manage the condition.