Open AccessNew ALS‐Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis
Author(s) -
Sabatelli Mario,
Marangi Giuseppe,
Conte Amelia,
Tasca Giorgio,
Zollino Marcella,
Lattante Serena
Publication year - 2016
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/bpa.12354
Subject(s) - amyotrophic lateral sclerosis , frontotemporal dementia , pathological , disease , phenotype , neuroscience , medicine , clinical phenotype , c9orf72 , dementia , gene , pathology , biology , genetics
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.