A Rare and Novel Pathogenic Variant of the PINK1 Gene Associated with Early-onset of Parkinson’s Disease - A Case Study

Abstract

We reported a case of rare and novel PINK 1 gene variant associated with Early-onset Parkinson’s Disease (EOPD) in 40-year-old male patient. Patient was presented with clinical indications of dystonia (left>right), hemidystonia and dystonic tremors. Patient has family history (elder sister) of parkinsonism diagnosed with PD at the age of 38 years, and the condition slowly deteriorated and died. Patient was subjected to MRI investigations of brain two years before on clinical condition of right upper limb involuntary movement since from past one year. MRI findings revealed few small non- specific foci of T2 hyperintensity seen scattered in the bilateral frontal white matter (R>L)’ incidental findings of doubtful significance. Patient was referred for whole exome sequencing. The exome data analysis identified a “homozygous autosomal recessive variant” of PINK1 gene with variant nomenclature “c.823_825delATC; p.Ile275del (Chr1:20644531 ACAT>A)” could be associated with EOPD with characterized rare clinical phenotypic manifestations in the form of hemidystonia.