AN AUTOPSY CASE OF CHOREA-ACANTHOCYTOSIS:SPECIAL REFERENCE TO THE HISTOPATHOLOGICAL AND BIOCHEMICAL FINDINGS OF BASAL GANGLIA Yuji Sato 1 , Akio Ohnishi 1 , Jun Tateishi 1 , Yuzo Onizuka 3 , Shinji Ishimoto 2 , Hiroshi Iwashita 2 , Yoshigoro Kuroiwa 2 , Ichiro Kanazawa 4 1Departments of Neuropathology, Neurological Institute, Faculty of Medicine, Kyushu University 2Departments of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University 3Tanushimaru Chuoh Hospital 4Department of Neurology, Institute of Clinical Medicine, University of Tsukuba pp.105-111
Published Date 1984/2/1
DOI https://doi.org/10.11477/mf.1406205259
  • Abstract
  • Look Inside

Chorea-acanthocytosis has been separated as a clinical entity different from Huntington's chorea, mainly based on the clinical findings, but the his-topathological and biochemical features of chorea-acanthocytosis, especially of basal ganglia, have not been well established, because only two such autopsy cases have been reported. The case pre-sented here was a 39-year-old man at autopsy, with 10 years duration of typical symptoms and signs of chorea-acanthocytosis.

At autopsy, the abnormal histopathological find-ings in the central nervous system were mainly confined to the striatum, where the caudate nuc-leus and putamen showed severe and moderate atrophy, respectively.

Morphometric evaluation of the numbers of small and large neurons in the striatum with the adjustment for the shrinkage produced in the dis-ease processes was performed. The numbers of small neurons in the caudate nucleus and putamen were 1% and 20% of each control, respectively. On the other hand, the large neurons in the cau-date nucleus showed a reduction of diameters with-out a decrease in number and those in the puts-men showed a mild decrease in number.

In the biochemical studies, marked decrease of substance P (SP) level without definite decrease of choline acetyltransferase and glutamic acid de-carboxylase (GAD) activities in both caudate nuc-leus and putamen was found. Substantia nigra, where no evident histopathological abnormalities were found, showed definite decrease of GAD activity and SP level.

In the peripheral nervous system, the lateral branch of deep peroneal nerve showed mild deg-ree of axonal degeneration. Neurogenic muscular atrophy with severe and mild degrees was found in extensor digitorum brevis and quadriceps fe-moris muscles, respectively.

In chorea-acanthocytosis degeneration of the striatum and the distal peripheral nerve with neu-rogenic muscular atrophy seems to be important to understand the clinical symptoms and signs.

Copyright © 1984, Igaku-Shoin Ltd. All rights reserved.


電子版ISSN 2185-405X 印刷版ISSN 0006-8969 医学書院