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NEUROLOGY 2005;64:145-147
© 2005 American Academy of Neurology
Brief Communications

FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia

A. Brussino, MD, C. Gellera, PhD, A. Saluto, PhD, C. Mariotti, MD, C. Arduino, MD, B. Castellotti, PhD, M. Camerlingo, MD, V. de Angelis, MD, L. Orsi, MD, P. Tosca, MD, N. Migone, MD, F. Taroni, MD and A. Brusco, PhD

From the Dipartimento di Genetica Biologia e Biochimica (Drs. Brussino, Saluto, Arduino, Migone, and Brusco), Università degli Studi di Torino and S.C. Genetica Medica, Ospedale San Giovanni Battista di Torino, Turin; Unità Operativa Biochimica e Genetica (Drs. Gellera, Mariotti, Castellotti, and Taroni), IRCCS Istituto Nazionale Neurologico "Carlo Besta," Milan; Unità Operativa di Neurologia (Dr. Camerlingo), Policlinico San Marco, Zingonia, Bergamo; Centro Malattie Neuromuscolari (Dr. de Angelis), Università "G. D’Annunzio," Chieti; Dipartimento di Neuroscienze (Dr. Orsi), Università di Torino, Turin; and Istituto Neurologico "C. Mondino" (Dr. Tosca), IRCCS, Pavia, Italy.

Address correspondence and reprint requests to Dr. Alfredo Brusco, Dipartimento di Genetica, Biologia e Biochimica, Università degli Studi di Torino, via Santena 19, 10126 Torino, Italy; e-mail: alfredo.brusco{at}unito.it

In an Italian population of 275 unrelated men affected by adult-onset sporadic progressive cerebellar ataxia, the authors found six patients carrying an FMR1 gene premutation. Age at onset (range, 53 to 69 years) and clinical-neuropathologic findings were consistent with the fragile-X tremor ataxia syndrome (FXTAS), although tremor was not as common as previously described. FXTAS accounted for 4.2% of the cases diagnosed at >50 years, suggesting that it is a frequent genetic cause of late-onset sporadic ataxia.

Received May 13, 2004. Accepted in final form August 19, 2004.




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