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Iscia Lopes-Cendes, MD; Isabel Silveira, PharmD; Patricia Maciel; Claudia Gaspar; João Radvany, MD; David Chitayat, MD; Riyana Babul, MSc; John Stewart, MD; Michele Dolliver, MSc; Yves Robitaille, MD; Guy A. Rouleau, MD, PhD; Jorge Sequeiros, MD, PhD

Arch Neurol. 1996;53(11):1168-1174.

Abstract
Background
Machado-Joseph disease (MJD) is a type of autosomal dominant spinocerebellar ataxia for which molecular diagnosis is available. We identified 4 families segregating the MJD mutation in which no unequivocal clinical diagnosis could be established prior to molecular testing. Ethnic background, clinical, and molecular characteristics of 19 individuals carrying the MJD mutation in these 4 families were compared with a group of 32 Portuguese families who were clinically diagnosed as having MJD and were found to carry the MJD mutation.

Results
Several factors seemed to have an impact in the accuracy of the clinical diagnosis, such as ethnic origin; the number of affected individuals available for examination in each family; the absence of patients showing specific clinical features, such as extrapyramidal signs; and the size of the expanded CAG repeat in the MJD gene.

Conclusion
Since the recognition of MJD based solely on clinical grounds might sometimes be misleading, a search for the MJD mutation should be performed in patients with a clinical diagnosis of spinocerebellar degeneration.

Author Affiliations
From the Centre for Research in Neuroscience, The Montreal General Hospital Research Institute, McGill University, Montreal, Quebec (Drs Lopes-Cendes, Silveira, and Rouleau and Mss Maciel and Gaspar); UnIGENe, IBMC, and Laboratório de Genética Médica, ICBAS and Universidade do Porto, Porto, Portugal (Drs Silveira and Sequeiros and Mss Maciel and Gaspar); Neurologia, Hospital Albert Einstein, Sao Paulo, Brazil (Dr Radvany); Division of Clinical Genetics, Hospital for Sick Children, Toronto, Ontario (Dr Chitayat and Ms Babul); Montreal Neurological Institute and Hospital, McGill University, Montreal (Dr Stewart); Department of Genetics, Kaiser Hospital, Sacramento, Calif (Ms Dolliver); and University of Montreal, Montreal (Dr Robitaille).

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