Neuronal intermediate filaments and ALS: a new look at an old question.
One of the pathological hallmarks of ALS is the presence of axonal spheroids and perikaryal accumulations/aggregations comprised of the neuronal intermediate filament proteins, neurofilaments and peripherin. These abnormalities represent a point of convergence of both familial and sporadic forms of the disease and understanding their formation may reveal shared pathways in what is otherwise considered a highly heterogeneous disorder. Here we provide a review of the basic biology of neurofilaments and peripherin and the evidence linking them with ALS disease pathogenesis.
Xiao
Shangxi
S
Department of Laboratory Medicine and Pathobiology, Centre for Research in Neurodegenerative Diseases, University of Toronto, Tanz Neuroscience Building, 6, Queen's Park Crescent West, Toronto, ON, Canada M5S 3H2.
McLean
Jesse
J
Robertson
Janice
J
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D000818:Animals; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007381:Intermediate Filament Proteins / Q000235:genetics* / Q000378:metabolism; D007382:Intermediate Filaments / Q000235:genetics* / Q000378:metabolism; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D008822:Mice, Transgenic; D016472:Motor Neuron Disease / Q000378:metabolism / Q000473:pathology; D009046:Motor Neurons / Q000378:metabolism / Q000473:pathology*; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D016900:Neurofilament Proteins / Q000235:genetics*; D064531:Peripherins; D010766:Phosphorylation
D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D016900:Neurofilament Proteins; C578994:PRPH protein, human; D064531:Peripherins