| Popis: |
Context: Parkinsonism is a clinical syndrome characterized by bradykinesia, tremor at rest, muscle stiffness and postural instability. Parkinson’s disease is the most common cause of parkinsonism. Pathogenic mutations in the leucine- rich repeat kinase 2 gene (LRRK2) have been identified in PARK8-linked autosomal dominant parkinsonism. This mutation is the most common and explains about 1–7% of family cases of parkinsonism of European and American origin and 1–3% of sporadic PD. This case report was approved by the Ethics Committee of Universidade Metropolitana de Santos. Case Report: The present case relates to a 40-year-old, white man, who presented insidious and progressive parkinsonism for 6 years, akinetic-rigid and asymmetric (Hoehn Yahr 2.5 scale) associated with early camptocormia and non-motor symptoms and partial response to levodopa. The classic phenotype of late-onset parkinsonism was found on the paternal side of the patient’s family, suggesting family inheritance. Exome sequencing showed heterozygous mutation PARK8 LRRK2 (Gly2019Ser). Conclusions: The presentation of this case was aimed at alerting to Parkinson’s genetic disease in adults with family inheritance associated with early camptocormia. The presentation of this case was aimed at alerting to Parkinson’s genetic disease in adults with family inheritance associated with early camptocormia. |
