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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Answer

Answer

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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