Which immunohistochemical findings are characteristic of spinal muscular atrophy (SMA)?

Updated: Apr 28, 2014
  • Author: Hidehiro Takei, MD; Chief Editor: Adekunle M Adesina, MD, PhD  more...
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In spinal muscular atrophy (SMA) type I, phosphorylated neurofilament protein (pNFP) and ubiquitin immunostains preferentially label the peripheral perikarya and proximal neuritis and the centers of the ballooned neurons, respectively [41, 42, 43] ; however, these features are not found reported in SMA type II. [43] Glial bundles invading the proximal portions of the anterior spinal roots are highlighted with glial fibrillary acidic protein (GFAP) immunostain. No data on TDP-43 immunohistochemical findings have been reported.

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