title: Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.
abstract: Adult polyglucosan body disease is a rare autosomal recessive disease, caused by glycogen branching enzyme gene mutations, characterised by urinary dysfunction, spastic paraplegia with vibration sense loss, peripheral neuropathy, and cognitive impairment. Fabry's disease is an X-linked lysosomal storage disorder caused by α-galactosidase A gene mutations; neurological manifestations include cerebrovascular accidents, small-fibre neuropathy and autonomic dysfunction. Here, we report the case of a 44-year-old Sicilian male with stroke-like episodes, hypohidrosis and mild proteinuria, which led to the diagnosis of Fabry's disease after a hemizygous mutation (p.Ala143Thr) in α-galactosidase A gene was detected. Subsequently, he developed progressive walking difficulties and dementia, which were considered atypical for Fabry's disease. Therefore, we performed additional investigations that eventually led to the diagnosis of adult polyglucosan body disease caused by two novel missense mutations (p.Asp413His and p.Gly534Val) in the glycogen branching enzyme gene. Recently, the pathogenic role of the p.Ala143Thr mutation in causing Fabry's disease has been questioned. This case underlines the importance of performing further investigations when facing with atypical features even in the presence of a genetic diagnosis of a rare disease.
authors.affiliation: Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Sagnelli
authors.affiliation: Unit of Neuroradiology, Department of Diagnostic and Applied Technology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Savoiardo
authors.affiliation: Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Marchesi
authors.affiliation: Neuromuscular Diseases and Neuroimmunology Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Morandi
authors.affiliation: Neuromuscular Diseases and Neuroimmunology Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Mora
authors.affiliation: Division of Neurology V and Neuropathology, Department of Diagnostic and Applied Technology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Morbin
authors.affiliation: Unit of Neuroradiology, Department of Diagnostic and Applied Technology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Farina
authors.affiliation: Department of Neurosciences, University of Messina, Messina, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Mazzeo
authors.affiliation: Department of Neurosciences, University of Messina, Messina, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Toscano
authors.affiliation: Dino Ferrari Center, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Pagliarani
authors.affiliation: Dino Ferrari Center, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Lucchiari
authors.affiliation: Dino Ferrari Center, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: G P
authors.initials: GP
authors.lastname: Comi
authors.affiliation: Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Salsano
authors.affiliation: Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy. Electronic address: davide.pareyson@istituto-besta.it.
authors.forename: D
authors.initials: D
authors.lastname: Pareyson
mesh_terms: D000328:Adult; D003951:Diagnostic Errors; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D006008:Glycogen Storage Disease / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics
keywords: 1,4-Alpha-glucan branching enzyme; Adult polyglucosan body disease; Fabry’s disease; Lysosomal storage disease; α-Galactosidase A