Kufor–Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report

Parkinson’s disease (PD) is a neurodegenerative condition characterized by progressive loss of dopaminergic neurons and by heterogeneous etiologies and clinical manifestations. Juvenile‐onset forms are rare and can be caused by biallelic mutations in several genes. Kufor–Rakeb syndrome (KRS) is an autosomal‐recessive form of early‐onset parkinsonism caused by pathogenic variants in the ATP13A2 ( PARK9 ) gene. This P5B‐ATPase dysfunction impairs lysosomal processing, leading to the accumulation of α ‐synuclein. Here, we present the first documented Guatemalan case of KRS, a young woman with progressive motor and cognitive decline. Genetic testing identified a homozygous pathogenic variant in ATP13A2 . This report underscores the importance of recognizing KRS in diverse populations and of using gene‐based testing to guide diagnosis, counseling, and multidisciplinary supportive care.