Neurology®
The most widely read and highly cited peer-reviewed Neurology journal
Quick Search
Advanced Search
This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrowRequest Permissions
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Shimoda-Matsubayashi, S.
Right arrow Articles by Mizuno, Y.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Shimoda-Matsubayashi, S.
Right arrow Articles by Mizuno, Y.
NEUROLOGY 1997;49:1257-1262
© 1997 American Academy of Neurology

Mn SOD activity and protein in a patient with chromosome 6-linked autosomal recessive parkinsonism in comparison with Parkinson's disease and control

S. Shimoda-Matsubayashi, MD, T. Hattori, MD, H. Matsumine, MD, A. Shinohara, PhD, A. Yoritaka, MD, H. Mori, MD, T. Kondo, MD, M. Chiba, PhD and Y. Mizuno, MD

From the Departments of Neurology (Drs. Shimoda-Matsubayashi, Hattori, Matsumine, Yoritaka, Mori, Kondo, and Mizuno), and Epidemiology and Environmental Health (Drs. Shinohara and Chiba), Juntendo University School of Medicine, Tokyo, Japan.

Address correspondence and reprint requests to Dr. Satoe Shimoda-Matsubayashi, Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo, Tokyo 113, Japan.

We report Mn superoxide dismutase (SOD) protein and activity in a patient with familial autosomal recessive Lewy body-negative parkinsonism in comparison with patients with sporadic Parkinson's disease (PD) and controls. We recently proved linkage of this family with markers of chromosome 6 at 6q25.2-27, which included the Mn SOD gene. We used a novel polymorphic mutation at -9 position of the signal peptide of the Mn SOD precursor protein, which caused valine to alanine substitution. All the affected members of this family showed homozygosity for alanine, whereas nonaffected members, sporadic PD patients, and the control subjects studied showed either heterozygosity of alanine and valine or homozygosity of valine. The Mn SOD activity of this familial patient was the highest among the PD patients and the control subjects studied, and an abundant expression of Mn SOD was found in the substantia nigra. The molecular weight of Mn SOD protein by Western blotting of this patient was essentially similar to that of PD patients and the control subjects. High Mn SOD activity may constitute a genetic risk factor in this familial patient. The difference in the signal peptide sequence may affect the expression of Mn SOD within mitochondria; however, it is unlikely that loss of function type Mn SOD mutation is the cause of this familial parkinsonism. Mn SOD in sporadic PD patients was similar to that in controls.

Supported in part by a Grant-in-Aid for Scientific Research on Priority Areas and by a Grant-in-Aid for Neuroscience Research from Ministry of Education, Science and Culture, and a Grant-in-Aid for Intractable Disorders from Ministry of Health and Welfare, Japan; and by a "Center of Excellence" grant from the National Parkinson Foundation, Miami, FL.

Received December 16, 1996. Accepted in final form June 4, 1997.