An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond.

ABSTRACT: Pompe disease (PD) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acid-alpha glucosidase (GAA). Pathogenic variants in the GAA gene lead to excessive accumulation of lysosomal glycogen primarily in the cardiac, skeletal, and smooth muscles. There is growing evidence of central nervous system (CNS) involvement in PD. Current research is focused on determining the true extent of CNS involvement, its effects on behavior and cognition, and effective therapies that would correct the disease in both muscle and the CNS. This review article summarizes the CNS findings in patients, highlights the importance of research on animal models, explores the probable success of gene therapy in reversing CNS pathologies as reported by some breakthrough preclinical studies, and e

SUBMITTER: Korlimarla A 

PROVIDER: S-EPMC6642933 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature