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Contributors
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- By Lenard A. Adler, Pinky Agarwal, Rehan Ahmed, Jagga Rao Alluri, Fawaz Al-Mufti, Samuel Alperin, Michael Amoashiy, Michael Andary, David J. Anschel, Padmaja Aradhya, Vandana Aspen, Esther Baldinger, Jee Bang, George D. Baquis, John J. Barry, Jason J. S. Barton, Julius Bazan, Amanda R. Bedford, Marlene Behrmann, Lourdes Bello-Espinosa, Ajay Berdia, Alan R. Berger, Mark Beyer, Don C. Bienfang, Kevin M. Biglan, Thomas M. Boes, Paul W. Brazis, Jonathan L. Brisman, Jeffrey A. Brown, Scott E. Brown, Ryan R. Byrne, Rina Caprarella, Casey A. Chamberlain, Wan-Tsu W. Chang, Grace M. Charles, Jasvinder Chawla, David Clark, Todd J. Cohen, Joe Colombo, Howard Crystal, Vladimir Dadashev, Sarita B. Dave, Jean Robert Desrouleaux, Richard L. Doty, Robert Duarte, Jeffrey S. Durmer, Christyn M. Edmundson, Eric R. Eggenberger, Steven Ender, Noam Epstein, Alberto J. Espay, Alan B. Ettinger, Niloofar (Nelly) Faghani, Amtul Farheen, Edward Firouztale, Rod Foroozan, Anne L. Foundas, David Elliot Friedman, Deborah I. Friedman, Steven J. Frucht, Oded Gerber, Tal Gilboa, Martin Gizzi, Teneille G. Gofton, Louis J. Goodrich, Malcolm H. Gottesman, Varda Gross-Tsur, Deepak Grover, David A. Gudis, John J. Halperin, Maxim D. Hammer, Andrew R. Harrison, L. Anne Hayman, Galen V. Henderson, Steven Herskovitz, Caitlin Hoffman, Laryssa A. Huryn, Andres M. Kanner, Gary P. Kaplan, Bashar Katirji, Kenneth R. Kaufman, Annie Killoran, Nina Kirz, Gad E. Klein, Danielle G. Koby, Christopher P. Kogut, W. Curt LaFrance, Patrick J.M. Lavin, Susan W. Law, James L. Levenson, Richard B. Lipton, Glenn Lopate, Daniel J. Luciano, Reema Maindiratta, Robert M. Mallery, Georgios Manousakis, Alan Mazurek, Luis J. Mejico, Dragana Micic, Ali Mokhtarzadeh, Walter J. Molofsky, Heather E. Moss, Mark L. Moster, Manpreet Multani, Siddhartha Nadkarni, George C. Newman, Rolla Nuoman, Paul A. Nyquist, Gaia Donata Oggioni, Odi Oguh, Denis Ostrovskiy, Kristina Y. Pao, Juwen Park, Anastas F. Pass, Victoria S. Pelak, Jeffrey Peterson, John Pile-Spellman, Misha L. Pless, Gregory M. Pontone, Aparna M. Prabhu, Michael T. Pulley, Philip Ragone, Prajwal Rajappa, Venkat Ramani, Sindhu Ramchandren, Ritesh A. Ramdhani, Ramses Ribot, Heidi D. Riney, Diana Rojas-Soto, Michael Ronthal, Daniel M. Rosenbaum, David B. Rosenfield, Durga Roy, Michael J. Ruckenstein, Max C. Rudansky, Eva Sahay, Friedhelm Sandbrink, Jade S. Schiffman, Angela Scicutella, Maroun T. Semaan, Robert C. Sergott, Aashit K. Shah, David M. Shaw, Amit M. Shelat, Claire A. Sheldon, Anant M. Shenoy, Yelizaveta Sher, Jessica A. Shields, Tanya Simuni, Rajpaul Singh, Eric E. Smouha, David Solomon, Mehri Songhorian, Steven A. Sparr, Egilius L. H. Spierings, Eve G. Spratt, Beth Stein, S.H. Subramony, Rosa Ana Tang, Cara Tannenbaum, Hakan Tekeli, Amanda J. Thompson, Michael J. Thorpy, Matthew J. Thurtell, Pedro J. Torrico, Ira M. Turner, Scott Uretsky, Ruth H. Walker, Deborah M. Weisbrot, Michael A. Williams, Jacques Winter, Randall J. Wright, Jay Elliot Yasen, Shicong Ye, G. Bryan Young, Huiying Yu, Ryan J. Zehnder
- Edited by Alan B. Ettinger, Albert Einstein College of Medicine, New York, Deborah M. Weisbrot, State University of New York, Stony Brook
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- Book:
- Neurologic Differential Diagnosis
- Published online:
- 05 June 2014
- Print publication:
- 17 April 2014, pp xi-xx
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28 - Spinocerebellar ataxia type 3
- from PART VIII - DOMINANTLY INHERITED PROGRESSIVE ATAXIAS
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- By S.H. Subramony, Paraminder J.S. Vig, Department of Neurology, University of Mississippi Medical Center, USA
- Edited by Mario-Ubaldo Manto, University of Brussels, Massimo Pandolfo, Université de Montréal
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- Book:
- The Cerebellum and its Disorders
- Published online:
- 06 July 2010
- Print publication:
- 15 November 2001, pp 428-439
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Summary
Historical introduction
Spinocerebellar ataxia type 3 (SCA3) is a form of dominant ataxia which, prior to the recognition of its genotype, would have been labeled as Marie's ataxia, olivoponto-cerebellar atrophy, or autosomal dominant cerebellar ataxia type 1. The occurrence of a dominant ataxia among the Azorean immigrants to the USA was first described by Nakano et al. (1972) in the family of William Machado from Massachusetts. A second family from the Azores, descended from Anton Joseph, with a dominantly inherited neurodegenerative disease that was primarily characterized by spasticity and rigidity, was described from California by Rosenberg et al. (1976). Neuropathologic examination in this family showed loss of nigral and spinal cord neurons. Other Azorean families with a similar disorder had members with a Parkinsonian phenotype (Romanul et al., 1977). Field trips to the Azores by Portuguese and American workers found a high prevalence of this dominantly inherited neurodegenerative disorder among the residents of the Azorean islands (Coutinho and Andrade, 1978). The disease was characterized by considerable intrafamilial variation in clinical phenotype; both the ataxic and the spastic-rigid phenotypes were found within the same families, and the disease was variously named Machado–Joseph disease and Azorean disease of the nervous system (Romanul et al., 1977; Dawson, 1977). Though the disorder shared many features with dominantly inherited cerebellar ataxia in non- Portuguese populations, its unique phenotypic variability was thought to reflect a disease prevalent only among the Portuguese Azoreans. A similar clinical disorder occurring in non-Portuguese families was thought to result from the introduction of Portuguese genes into these ethnic groups (Healton et al., 1980; Sakai et al., 1983; Subramony et al., 1993).