A Novel POLR1C Mutation Causing Autosomal Recessive Adult-Onset Leukodystrophy (P5.171)

Conclusions: This report of expands the clinical phenotype of POLR1C mutations with the first case manifesting as an adult-onset leukodystrophy, as well as Mexican ancestry. Supported by NIHDisclosure: Dr. Geschwind has received personal compensation for activities with Best Doctors, Advanced Medical, Guidepoint Global, Gerson-Lehrman Group, and Quest Diagnostics. Dr. Geschwind has received research support from NIH/NIA, the Tau Consortium, Michael J. H Dr. Kim has nothing to disclose. Dr. Wahl has nothing to disclose. Dr. Gahl has nothing to disclose. Dr. Toro has nothing to disclose.
Source: Neurology - Category: Neurology Authors: Tags: Aging and Dementia: Neurogenetics Source Type: research