title: Neuropathology of Amyotrophic Lateral Sclerosis and Its Variants.
abstract: The neuropathologic molecular signature common to almost all sporadic amyotrophic lateral sclerosis (ALS) and most familial ALS is TDP-43 immunoreactive neuronal cytoplasmic inclusions. The neuropathologic and molecular neuropathologic features of ALS variants, primarily lateral sclerosis and progressive muscular atrophy, are less certain but also seem to share the primary features of ALS. Genetic causes, including mutations in SOD1, TDP-43, FUS, and C9orf72, all have distinctive molecular neuropathologic signatures. Neuropathology will continue to play an increasingly key role in solving the puzzle of ALS pathogenesis.
authors.affiliation: Department of Neurosciences, ALS Translational Research, University of California (San Diego), 9500 Gilman Drive, MC0624, La Jolla, CA 92093, USA.
authors.forename: Shahram
authors.initials: S
authors.lastname: Saberi
authors.affiliation: Department of Neurosciences, ALS Translational Research, University of California (San Diego), 9500 Gilman Drive, MC0624, La Jolla, CA 92093, USA.
authors.forename: Jennifer E
authors.initials: JE
authors.lastname: Stauffer
authors.affiliation: Department of Neurosciences, ALS Translational Research, University of California (San Diego), 9500 Gilman Drive, MC0624, La Jolla, CA 92093, USA.
authors.forename: Derek J
authors.initials: DJ
authors.lastname: Schulte
authors.affiliation: Department of Neurosciences, ALS Translational Research, University of California (San Diego), 9500 Gilman Drive, MC0624, La Jolla, CA 92093, USA. Electronic address: jravits@ucsd.edu.
authors.forename: John
authors.initials: J
authors.lastname: Ravits
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D000073885:C9orf72 Protein; D004268:DNA-Binding Proteins / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D004268:DNA-Binding Proteins; D011506:Proteins; C000598624:TARDBP protein, human
keywords: Amyotrophic lateral sclerosis; C9orf72; Motor neuron degeneration; Neuropathology; TDP-43