Brain Advance Access published online on June 9, 2005
Brain, doi:10.1093/brain/awh535
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
1 Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany
* To whom correspondence should be addressed. The recent identification of fragile X-associated tremor ataxia syndrome (FXTAS) associated with premutations in the FMR1 gene and the possibility of clinical overlap with multiple system atrophy (MSA) has raised important questions, such as whether genetic testing for FXTAS should be performed routinely in MSA and whether positive cases might affect the specificity of current MSA diagnostic criteria. We genotyped 507 patients with clinically diagnosed or pathologically proven MSA for FMR1 repeat length. Among the 426 clinically diagnosed cases, we identified four patients carrying FMR1 premutations (0.94%). Within the subgroup of patients with probable MSA-C, three of 76 patients (3.95%) carried premutations. We identified no premutation carriers among 81 patients with pathologically proven MSA and only one carrier among 622 controls (0.16%). Our results suggest that, with proper application of current diagnostic criteria, FXTAS is very unlikely to be confused with MSA. However, slowly progressive disease or predominant tremor are useful red flags and should prompt the consideration of FXTAS. On the basis of our data, the EMSA Study Group does not recommend routine FMR1 genotyping in typical MSA patients.
Article
The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group
2 Department of Molecular Neuroscience, Institute of Neurology, Tooting, London
3 Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Tooting, London
4 Gene Bank Parkinson Germany Bonn, Department of Neurology, University of Bonn, Bonn, Germany; Parkinson Competence Net e.V. (BMBF 01G19901), Marburg, Germany
5 Department of Neurology, Philipps University, Marburg, Germany
6 Department of Neurology, University of Innsbruck, Innsbruck, Austria
7 Department of Neurology, University of Ulm, Munich, Germany
8 Institute of Human Genetics, University of Aarhus, Aarhus, Denmark
9 Department of Neurological Sciences, University Federico II, Napoli, Italy
10 Neurology Service, Institut Clinic Malaltias del Sistema Nervios, Hospital Clinic Universitari, University of Barcelona, Barcelona, Spain
11 Istituto Nazionale Neurologico ‘C. Besta’, Milano, Italy
12 Neuroscience Department, University of Lund, Lund, Sweden
13 Academic Neurology Unit, Division of Genomic Medicine, University of Sheffield, Sheffield, UK
14 Center of Medical Genetics, Munich, Germany
15 Department of Medical Genetics, St George's Hospital, Tooting, London
16 GSF National Research Center for Environment and Health, Institute of Epidemiology, Neuherberg, Germany
T. Gasser, E-mail: thomas.gasser{at}med.uni-tuebingen.de
Abstract 
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  S. Gilman, G. K. Wenning, P. A. Low, D. J. Brooks, C. J. Mathias, J. Q. Trojanowski, N. W. Wood, C. Colosimo, A. Durr, C. J. Fowler, et al. Second consensus statement on the diagnosis of multiple system atrophy Neurology, August 26, 2008; 71(9): 670 - 676. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 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]
|
|
|
|
 |
|
 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]
|
|
|
|
 |
|
 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]
|
|
|
|
|
|
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]
|
|