Rare <i>PANK2</i> variants and pantothenate-kinase-associated neurodegeneration in the Dominican Republic.

ABSTRACT: Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare, autosomal recessive neurological disorder characterized by the progressive degeneration of specific regions in the brain and is invariably fatal. Several individuals in families affected by PKAN were known to live in an isolated region in a southwestern province of the Dominican Republic and had been previously studied. Forty-six individuals with PKAN in 34 families were evaluated for disease manifestations using the PKAN-Disease Rating Scale and the Leiter-3 Cognitive and Neuropsychological assessment. We completed whole genome sequencing in the 46 affected individuals and their 80 unaffected relatives. Haplotype analysis was used to identify shared genetic patterns among individuals with the mutation to identify common an

SUBMITTER: Vardarajan BN 

PROVIDER: S-EPMC12342184 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature