Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
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
Right arrow Citation Map
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 arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Brussino, A.
Right arrow Articles by Brusco, A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Brussino, A.
Right arrow Articles by Brusco, A.
Related Collections
Right arrow Gait disorders/ataxia
Right arrow All Genetics
Right arrow Trinucleotide repeat diseases
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.




This article has been cited by other articles:


Home page
 PediatricsHome page
E. W. Hayes and R. Matalon
Fragile X Syndrome
Pediatrics, August 1, 2009; 124(2): 790 - 792.
[Full Text] [PDF]

Home page
 NeurologyHome page
M. A. Leehey, E. Berry-Kravis, C. G. Goetz, L. Zhang, D. A. Hall, L. Li, C. D. Rice, R. Lara, J. Cogswell, A. Reynolds, et al.
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers
Neurology, April 15, 2008; 70(16_Part_2): 1397 - 1402.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Neuroradiol.Home page
A. Ginestroni, L. Guerrini, R. D. Nave, C. Tessa, E. Cellini, M.T. Dotti, P. Brunori, N. De Stefano, S. Piacentini, and M. Mascalchi
Morphometry and 1H-MR Spectroscopy of the Brain Stem and Cerebellum in Three Patients with Fragile X-Associated Tremor/Ataxia Syndrome
AJNR Am. J. Neuroradiol., March 1, 2007; 28(3): 486 - 488.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
S. Jacquemont, M. A Leehey, R. J Hagerman, L. A Beckett, and P. J Hagerman
Size bias of fragile X premutation alleles in late-onset movement disorders
J. Med. Genet., October 1, 2006; 43(10): 804 - 809.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
E. Cellini, P. Forleo, A. Ginestroni, B. Nacmias, A. Tedde, S. Bagnoli, M. Mascalchi, S. Sorbi, and S. Piacentini
Fragile X Premutation With Atypical Symptoms at Onset.
Arch Neurol, August 1, 2006; 63(8): 1135 - 1138.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
R. Ceravolo, A. Antonini, D. Volterrani, C. Rossi, S. Goldwurm, E. Di Maria, L. Kiferle, U. Bonuccelli, and L. Murri
Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers
Neurology, December 27, 2005; 65(12): 1971 - 1973.
[Abstract] [Full Text] [PDF]

Home page
 J. Mol. Diagn.Home page
A. Saluto, A. Brussino, F. Tassone, C. Arduino, C. Cagnoli, P. Pappi, P. Hagerman, N. Migone, and A. Brusco
An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 Gene
J. Mol. Diagn., November 1, 2005; 7(5): 605 - 612.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
C. Kamm, D. G. Healy, N. P. Quinn, U. Wullner, J. C. Moller, L. Schols, F. Geser, K. Burk, A. D. Borglum, M. T. Pellecchia, et al.
The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group
Brain, August 1, 2005; 128(8): 1855 - 1860.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
C. Kamm and T. Gasser
The variable phenotype of FXTAS: A common cause of "idiopathic" disorders
Neurology, July 26, 2005; 65(2): 190 - 191.
[Full Text] [PDF]

Home page
 NeurologyHome page
D. A. Hall, E. Berry-Kravis, S. Jacquemont, C. D. Rice, J. Cogswell, L. Zhang, R. J. Hagerman, P. J. Hagerman, and M. A. Leehey
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)
Neurology, July 26, 2005; 65(2): 299 - 301.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2005 by AAN Enterprises, Inc.