The involvement of central nervous system across the phenotypic spectrum of Pompe disease: a systematic review

• Published in: Neuromuscular disorders : NMD Vol. 51; p. 105362
• Main Authors: Torri, Francesca, Buchignani, Bianca, Unluturk, Zeynep, Vadi, Gabriele, Loprieno, Sara, Battini, Roberta, Mancuso, Michelangelo, Siciliano, Gabriele
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.06.2025
• Subjects: Brain - diagnostic imaging; Brain - pathology; brain MRI; Central nervous system; Central Nervous System - pathology; Cognitive impairment; Glycogen Storage Disease Type II - complications; Glycogen Storage Disease Type II - pathology; Glycogen Storage Disease Type II - physiopathology; Humans; Phenotype; Pompe disease; Spinal Cord - diagnostic imaging; Spinal Cord - pathology; White matter lesions, Aneurysm; Pompe disease; White matter lesions, Aneurysm; brain MRI; Central nervous system; Cognitive impairment

•CNS involvement in Pompe disease is heterogeneous in clinical presentation and radiological features.•Arterial vessels, white and grey matter can be affected.•CNS affection is present both in IOPD and LOPD subjects.•No uniform methodology has been applied to study CNS.•Standardized protocols are ne...