Fragile X-associated tremor/ataxia syndrome

Changed by Sarah Kalus, 27 Jul 2015

Updates to Article Attributes

References changed:

  • 1. Hall D & O'keefe J. Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment. Tremor Other Hyperkinet Mov (N Y). 2012;2. <a href="https://doi.org/10.7916/D8HD7TDS">doi:10.7916/D8HD7TDS</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/23439567">Pubmed</a>
  • 2. Muzar Z & Lozano R. Current Research, Diagnosis, and Treatment of Fragile X-Associated Tremor/Ataxia Syndrome. Intractable Rare Dis Res. 2014;3(4):101-9. <a href="https://doi.org/10.5582/irdr.2014.01029">doi:10.5582/irdr.2014.01029</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/25606360">Pubmed</a>
  • 3. Hall D, Birch R, Anheim M et al. Emerging Topics in FXTAS. J Neurodev Disord. 2014;6(1):31. <a href="https://doi.org/10.1186/1866-1955-6-31">doi:10.1186/1866-1955-6-31</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/25642984">Pubmed</a>
  • 4. Leehey M. Fragile X-Associated Tremor/Ataxia Syndrome: Clinical Phenotype, Diagnosis, and Treatment. J Investig Med. 2009;57(8):830-6. <a href="https://doi.org/10.2310/JIM.0b013e3181af59c4">doi:10.2310/JIM.0b013e3181af59c4</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/19574929">Pubmed</a>
  • 5. Hashimoto R, Srivastava S, Tassone F, Hagerman R, Rivera S. Diffusion Tensor Imaging in Male Premutation Carriers of the Fragile X Mental Retardation Gene. Mov Disord. 2011;26(7):1329-36. <a href="https://doi.org/10.1002/mds.23646">doi:10.1002/mds.23646</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/21484870">Pubmed</a>
  • 6. Brunberg J, Jacquemont S, Hagerman R et al. Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction. AJNR Am J Neuroradiol. 2002;23(10):1757-66. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8185834">PMC8185834</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/12427636">Pubmed</a>
  • 1. Jacquemont S, Orrico A, Galli L et-al. Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? J. Med. Genet. 2005;42 (2): e14. <a href="http://dx.doi.org/10.1136/jmg.2004.024190">doi:10.1136/jmg.2004.024190</a> - <a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735999">Free text at pubmed</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/15689437">Pubmed citation</a><div class="ref_v2"></div>
  • 2. Storey E, Billimoria P. Increased T2 signal in the middle cerebellar peduncles on MRI is not specific for fragile X premutation syndrome. J Clin Neurosci. 2005;12 (1): 42-3. <a href="http://dx.doi.org/10.1016/j.jocn.2004.07.006">doi:10.1016/j.jocn.2004.07.006</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/15639410">Pubmed citation</a><div class="ref_v2"></div>
  • 3. Hall DA, O'keefe JA. Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment. Tremor Other Hyperkinet Mov (N Y). 2012;2(4):467–79.

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