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

Mario Sabatelli, Giuseppe Marangi, Amelia Conte, Giorgio Tasca, Marcella Zollino, Serena Lattante

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)266-275
Number of pages10
JournalBrain Pathology
Issue number2
Publication statusPublished - Mar 1 2016


  • amyotrophic lateral sclerosis
  • distal myopathy
  • fronto temporal dementia
  • inclusion body myopathy
  • mitochondrial diseases

ASJC Scopus subject areas

  • Neuroscience(all)
  • Pathology and Forensic Medicine
  • Clinical Neurology


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