Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.

Background: The Brazilian Northeast region is notable for its high prevalence of consanguineous marriages and isolated populations, which has led to a significant prevalence of rare genetic disorders. This study describes the clinical presentation of four affected individuals from the same family, comprising two siblings and their cousins, with ages ranging from 11 to 20 years.

Methods: In a small and isolated community in Northeastern Brazil, affected individuals initially underwent a clinical assessment.