The Big Bluff of Amyotrophic Lateral Sclerosis Diagnosis: The Role of Neurodegenerative Disease Mimics

Ilaria Bicchi, Carla Emiliani, Angelo Vescovi, Sabata Martino

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)313-321
Number of pages9
JournalNeurodegenerative Diseases
Volume15
Issue number6
DOIs
Publication statusPublished - Nov 24 2015

Keywords

  • Alzheimer's disease
  • Amyotrophic lateral sclerosis
  • Differential diagnosis
  • GM2 gangliosidosis
  • Misdiagnosis
  • Neurodegenerative disorders
  • Parkinson's disease
  • Sandhoff disease
  • Superoxide dismutase 1
  • Tay-Sachs disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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