Related Experiment Video
Updated: Aug 14, 2025
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation
Diego Lopergolo1,2, Simona Salvatore3,4, Vincenzo Sorrentino5,6
1Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy. diego.lopergolo@unifi.it.
Introduction:
NAGLU encodes N-acetyl-alpha-glucosaminidase, an enzyme that degrades heparan sulfate. Biallelic NAGLU mutations cause mucopolysaccharidosis IIIB, a severe childhood-onset neurodegenerative disease, while monoallelic mutations are associated to late-onset, dominantly inherited painful sensory neuropathy. However, to date, only one family with a dominant NAGLU-related neuropathy has been described.
Case Report:
Here we describe a patient with early-onset motor polyneuropathy harboring a novel monoallelic NAGLU mutation. We found reduced NAGLU enzymatic activity thus corroborating the pathogenic role of the new variant.
Discussion:
Our report represents the second ever described case with dominant NAGLU-related neuropathy and the first case with early-onset motor symptoms. We underlie the importance of a thorough clinical description of this probably underestimated new clinical entity.
