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New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis

Lookup NU author(s): Professor Giorgio TascaORCiD


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© 2016 International Society of Neuropathology.Amyotrophic Lateral Sclerosis (ALS) is characterized by the degeneration of upper and lower motor neurons. Clinical heterogeneity is a well-recognized feature of the disease as age of onset, site of onset and the duration of the disease can vary greatly among patients. A number of genes have been identified and associated to familial and sporadic forms of ALS but the majority of cases remains still unexplained. Recent breakthrough discoveries have demonstrated that clinical manifestations associated with ALS-related genes are not circumscribed to motor neurons involvement. In this view, ALS appears to be linked to different conditions over a continuum or spectrum in which overlapping phenotypes may be identified. In this review, we aim to examine the increasing number of spectra, including ALS/Frontotemporal Dementia and ALS/Myopathies spectra. Considering all these neurodegenerative disorders as different phenotypes of the same spectrum can help to identify common pathological pathways and consequently new therapeutic targets in these incurable diseases.

Publication metadata

Author(s): Sabatelli M, Marangi G, Conte A, Tasca G, Zollino M, Lattante S

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: Mini-Symposium: Amyotrophic Lateral Sclerosis: An Update on its complexity

Year of Conference: 2016

Pages: 266-275

Print publication date: 22/03/2016

Online publication date: 18/01/2016

Acceptance date: 14/01/2016

ISSN: 1750-3639

Publisher: Blackwell Publishing Ltd


DOI: 10.1111/bpa.12354

PubMed id: 26780671

Series Title: Brain Pathology