title: The Big Bluff of Amyotrophic Lateral Sclerosis Diagnosis: The Role of Neurodegenerative Disease Mimics.
abstract: Neurodegenerative diseases include a significant number of pathologies affecting the nervous system. Generally, the primary cause of each disease is specific; however, recently, it was shown that they may be correlated at molecular level. This aspect, together with the exhibition of similar symptoms, renders the diagnosis of these disorders difficult. Amyotrophic lateral sclerosis is one of these pathologies. Herein, we report several cases of amyotrophic lateral sclerosis misdiagnosed as a consequence of features that are common to several neurodegenerative diseases, such as Parkinson's, Huntington's and Alzheimer's disease, spinal muscular atrophy, progressive bulbar palsy, spastic paraplegia and frontotemporal dementia, and mostly with the lysosomal storage disorder GM2 gangliosidosis. Overall reports highlight that the differential diagnosis for amyotrophic lateral sclerosis should include correlated mechanisms.
authors.affiliation: Department of Chemistry, Biology and Biotechnologies, University of Perugia, Perugia, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Bicchi
authors.forename: Carla
authors.initials: C
authors.lastname: Emiliani
authors.forename: Angelo
authors.initials: A
authors.lastname: Vescovi
authors.forename: Sabata
authors.initials: S
authors.lastname: Martino
mesh_terms: D000544:Alzheimer Disease / Q000175:diagnosis* / Q000628:therapy; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy*; D000818:Animals; D003937:Diagnosis, Differential; D003951:Diagnostic Errors / Q000517:prevention & control*; D057180:Frontotemporal Dementia / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000378:metabolism