The authors investigated by immunohistochemistry the distribution of protec
tive protein in human tissues. Immunoreactivity was observed in the cytopla
sm, revealing a granular pattern and cell type specificity. The most intens
e staining was observed in the large neurons of brain, distal and collectin
g tubular cells of kidney, epithelial cells of bronchus, and Leydig cells o
f testis, In a patient with galactosialidosis type IIa, all these stains we
re absent. The neurons that were most strongly stained in the control group
, such as the Betz cells, neurons in the basal forebrain, motor neurons in
the cranial nerve nuclei, and ventral horn cells of the spinal cord, were m
arkedly ballooned in the patient with galactosialidosis, (C) 1999 by Elsevi
er Science Inc. All rights reserved.