Pantothenate Kinase-Associated Neurodegeneration (PKAN) Research Study in the Dominican Republic

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, inherited neurological disorder caused by mutations in the PANK2 gene. The disease leads to progressive degeneration of specific regions of the brain, causing movement abnormalities and other neurological symptoms.

An unusually high number of individuals and families affected by PKAN have been identified in an isolated region of Barahona Province in the southwestern Dominican Republic. Under the leadership of Richard Mayeux, MD, MSc, Chair of the Department of Neurology at Columbia University Vagelos College of Physicians and Surgeons, Columbia investigators and collaborators in the Dominican Republic launched a research study to better characterize the disease in these families and understand its genetic origins.

To date, the team has evaluated 46 individuals with PKAN from 39 families, along with 104 unaffected relatives, combining detailed clinical assessments with whole-genome sequencing. The investigation identified two likely founder mutations in PANK2 associated with both classic and atypical forms of PKAN—genetic variants likely inherited from common ancestors and passed through generations within this relatively isolated population.

Researchers also found that the carrier frequency of one of these variants, c.680A>G, was substantially higher among individuals in the Dominican Republic than estimates for disease-causing PANK2 variants worldwide. These findings help explain the unusual concentration of PKAN within this community and may ultimately support the development of more targeted and accessible genetic testing and counseling for affected families and individuals at risk.

Ongoing Research

The study continues to identify and enroll additional individuals and families affected by PKAN, expanding researchers’ understanding of the disease and its genetic origins in the Dominican Republic.

Study Resources and Contact

Researchers interested in learning more about available study resources, including clinical data, biospecimens, and genotype data, may contact the study team at dr2290@cumc.columbia.edu.

Related Publication

Rare PANK2 variants and pantothenate-kinase-associated neurodegeneration in the Dominican Republic
Brain Communications