Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment

• Published in: Journal of neurology Vol. 262; no. 4; pp. 968 - 978
• Main Authors: Montagnese, Federica, Barca, E., Musumeci, O., Mondello, S., Migliorato, A., Ciranni, A., Rodolico, C., De Filippi, P., Danesino, C., Toscano, A.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.04.2015; Springer Nature B.V
• Subjects: Acids; Adult; alpha-Glucosidases - genetics; Analysis of Variance; Biopsy; Cohort Studies; Disease; DNA Mutational Analysis; Enzyme Replacement Therapy - methods; Enzymes; Female; Genotype & phenotype; Glycogen Storage Disease Type II - complications; Glycogen Storage Disease Type II - genetics; Glycogen Storage Disease Type II - therapy; Humans; Magnetic Resonance Imaging; Male; Medicine; Medicine & Public Health; Metabolic disorders; Middle Aged; Muscle, Skeletal - enzymology; Muscle, Skeletal - pathology; Musculoskeletal system; Mutation; Mutation - genetics; Neurology; Neuromuscular diseases; Neuroradiology; Neurosciences; Original Communication; Patients; Phosphatase; Respiration Disorders - etiology; Severity of Illness Index; Ureohydrolases - blood; Young Adult; Italy; Pompe disease; Metabolic myopathy; ERT; Glycogen storage disease type 2

Pompe disease is a rare metabolic disorder, due to mutations in the gene encoding acid alpha-glucosidase (GAA), of which infantile and late-onset forms may occur. Aim of the work was to analyze clinical and laboratory data of a cohort of late-onset Pompe disease (LOPD) patients, collected during the...