 |
 |

Machado-Joseph-Azorean Disease in India
Nadir E. Bharucha, MD, MRCP(UK), FRCP(C);
Eddie P. Bharucha, MD(Lond), FAMS;
Sohrab K. Bhabha, MD
Arch Neurol. 1986;43(2):142-144.
Abstract
Machado-Joseph-Azorean (MJA) disease is an autosomal-dominant multisystem motor degeneration (with cerebellar ataxia as an important manifestation) that is seen mainly in people of Portuguese descent. Recently, a family in Japan with probable MJA disease has been described. We describe a family with clinical features similar to those of MJA disease; these are the first cases to be described in India. Further pathologic study is necessary to confirm the diagnosis in our cases. Meanwhile, further search for such cases in India should yield interesting genetic clues to the disease.
Author Affiliations
From the Neuroepidemiology Department, Bombay (India) Hospital Medical Research Center (Drs N. E. Bharucha and E. P. Bharucha), and the Department of Neurology, K. E. M. Hospital and Seth G. S. Medical College, Bombay, India (Drs N. E. Bharucha, E. P. Bharucha, and Bhabha).
Footnotes
Accepted for publication April 5, 1985.
Reprint requests to Neuroepidemiology Department, 15th Floor, Medical Research Centre, Bombay Hospital, 12 Marine Lines, Bombay 400 020, India (Dr N. E. Bharucha).
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
The Pathogenesis of Machado Joseph Disease: A High Manganese/Low Magnesium Initiated CAG Expansion Mutation in Susceptible Genotypes?
Purdey
J. Am. Coll. Nutr. 2004;23:715S-729S.
ABSTRACT
| FULL TEXT
Characteristic Magnetic Resonance Imaging Findings in Machado-Joseph Disease
Murata et al.
Arch Neurol 1998;55:33-37.
ABSTRACT
| FULL TEXT
Topical Review: Clinical Aspects of Hereditary Ataxias
Subramony
J Child Neurol 1995;10:353-362.
ABSTRACT
Family With Dominantly Inherited Ataxia, Amyotrophy, and Peripheral Sensory Loss: Spinopontine Atrophy or Machado-Joseph Azorean Disease in Another Non-Portuguese Family?
Eto et al.
Arch Neurol 1990;47:968-974.
ABSTRACT
|