The Big Bluff of Amyotrophic Lateral Sclerosis Diagnosis: The Role of Neurodegenerative Disease Mimics
Authors:
- Ilaria BicchiIBIlaria Bicchi
- Carla EmilianiCECarla Emiliani
- Angelo VescoviAVAngelo Vescovi
- Sabata MartinoSMSabata Martino
- 30 July 2015
- journal article
- review article
- Published by S. Karger AG in Neurodegenerative Diseases
- Vol. 15 (6) , 313-321
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.Keywords
This publication has 98 references indexed in Scilit:
- MicroRNAs and Molecular Mechanisms of NeurodegenerationGenes, 2013
- Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidaseMolecular Genetics and Metabolism, 2012
- A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTDNeuron, 2011
- Superoxide Dismutases: Role in Redox Signaling, Vascular Function, and DiseasesAntioxidants & Redox Signaling, 2011
- Neural Stem Cell Gene Therapy Ameliorates Pathology and Function in a Mouse Model of Globoid Cell LeukodystrophyStem Cells, 2011
- Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in SynucleinopathiesCell, 2011
- Lysosomal Proteolysis and Autophagy Require Presenilin 1 and Are Disrupted by Alzheimer-Related PS1 MutationsCell, 2010
- SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosisBrain, 2010
- Phosphorylated TDP‐43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosisAnnals of Neurology, 2008
- Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosisNature, 1993