 |
|
Accumulation of Neurofilaments and SOD1-Immunoreactive Products in a Patient With Familial Amyotrophic Lateral Sclerosis With I113T SOD1 Mutation
Yasumasa Kokubo, MD;
Shigeki Kuzuhara, MD;
Yugo Narita, MD;
Koki Kikugawa, MD;
Ryoichi Nakano, MD;
Takashi Inuzuka, MD;
Shoji Tsuji, MD;
Masatoshi Watanabe, MD;
Tomonori Miyazaki, MD;
Shigeo Murayama, MD;
Yasuo Ihara, MD
Arch Neurol. 1999;56:1506-1508.
Objective To report neuropathologic features of argyrophilic inclusions in the anterior horn cells, motor cortex Betz cells, and neurons of the medullary reticular formation, spinal posterior horn, and Clarke column in a Japanese case of familial amyotrophic lateral sclerosis with I113T substitution in exon 4 of the copper-zinc superoxide dismutase (SOD1) gene.
Methods and Results These inclusions were stained pale pink on the hematoxylin-eosin stain and dark on the Bielschowsky stain. They were positive for antibodies to phosphorylated neurofilaments, ubiquitin, and SOD1. On electron microscopy, they consisted of abundant intermediate filaments of 10 to 20 nm in diameter with disordered array indicating neurofilaments.
Conclusion These findings suggest that the I113T mutation induces accumulation of neurofilaments and SOD1 in the central nervous system neurons.
From Departments of Neurology (Drs Kokubo, Kuzuhara, and Narita) and Pathology (Dr Watanabe), Mie University School of Medicine, Tsu, Mie, Japan; Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan (Drs Kikugawa, Nakano, Inuzuka, and Tsuji); Department of Internal Medicine, Tsu Seikyo Hospital, Tsu, Mie (Dr Miyazaki); and Departments of Neurology (Dr Murayama) and Neuropathology (Dr Ihara), Institute of Brain Research, Faculty of Medicine, University of Tokyo, Bunkyo-ku, Tokyo, Japan.
RELATED ARTICLE
Archives of Neurology Reader's Choice: Continuing Medical Education
Arch Neurol. 1999;56(12):1538-1539.
FULL TEXT
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
The G93C Mutation in Superoxide Dismutase 1: Clinicopathologic Phenotype and Prognosis
Regal et al.
Arch Neurol 2006;63:262-267.
ABSTRACT
| FULL TEXT
Minute quantities of misfolded mutant superoxide dismutase-1 cause amyotrophic lateral sclerosis
Jonsson et al.
Brain 2004;127:73-88.
ABSTRACT
| FULL TEXT
Pathophysiology of apolipoprotein E deficiency in mice: relevance to apo E-related disorders in humans
MOGHADASIAN et al.
FASEB J. 2001;15:2623-2630.
ABSTRACT
| FULL TEXT
Familial Amyotrophic Lateral Sclerosis With a Novel Leu126Ser Mutation in the Copper/Zinc Superoxide Dismutase Gene Showing Mild Clinical Features and Lewy Body-Like Hyaline Inclusions
Takehisa et al.
Arch Neurol 2001;58:736-740.
ABSTRACT
| FULL TEXT
|
