Which immunohistochemical findings are characteristic of X-linked spinobulbar muscular atrophy (SBMA) (Kennedy disease)?

Updated: Apr 28, 2014
  • Author: Hidehiro Takei, MD; Chief Editor: Adekunle M Adesina, MD, PhD  more...
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Answer

Answer

As a pathologic hallmark of most polyglutamine-mediated neurodegenerative diseases, nuclear inclusions (NIs) containing the mutant androgen receptors are present in the residual motor neurons in the spinal cord and brainstem, as well as in the skin, testis, and some other visceral organs in X-linked spinobulbar muscular atrophy (SBMA). [46] These nuclear inclusions are detected by antibodies recognizing a small portion of the N-terminus of the androgen-receptor protein and the expanded polyglutamine tract (immunohistochemistry IC2 antibody).

No ubiquitin-immunoreactive cytoplasmic inclusions that are seen in ALS are noted in SBMA. No data on TDP-43 immunohistochemical findings have been reported to date. Abnormal pNFP expression in the somata is not seen.


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