Case Series: Deep Brain Stimulation in Patients with FXTAS
|Randi J Hagerman1,2, Jamie S Pak3, Melina Ortigas1, John Olichney4, Robert Frysinger5, Madeline Harrison6, Edmund Cornman7, Danuta Z. Loesch8, Richard G Bittar9, Richard Peppard10, Lin Zhang4* and Kiarash Shahlaie11|
|1Department of Pediatrics, M.I.N.D. Institute, School of Medicine, University of California, Davis, Sacramento, CA, USA|
|2Department of Pediatrics, School of Medicine, University of California, Davis, Sacramento, CA, USA|
|3Mount Sinai School of Medicine, Department of Dermatology, Mount Sinai Medical Center, New York, NY, USA|
|4Department of Neurology, School of Medicine, University of California, Davis, Sacramento, CA, USA|
|5Department of Neurological Surgery, University of Virginia School of Medicine, Charlottesville, VA, USA|
|6Department of Neurology, University of Virginia School of Medicine, Charlottesville, VA, USA|
|7Department of Sleep Medicine and Neurology, Sleep Disorders Center of Virginia, Midlothian, VA, USA|
|8Department of Psychology, School of Psychological Science, La Trobe University, Melbourne, VIC, Australia|
|9Department of Neurological Surgery, Precision Neurosurgery, Melbourne, Australia|
|10Department of Neurology, St. Vincent’s Hospital, Carlton, VIC, Australia|
|11Department of Neurological Surgery, School of Medicine, University of California, Davis, Sacramento, CA, USA|
|Corresponding Author :||Lin Zhang, MD, PhD
Lawrence J. Ellison Ambulatory Care Center
4860 Y St, Suite 0100, Sacramento, CA, USA, 95817
Tel: (916) 734-3588
E-mail: [email protected]
|Received June 05, 2012; Accepted August 03, 2012; Published August 05, 2012|
|Citation: Hagerman RJ, Pak JS, Ortigas M, Olichney J, Frysinger R, et al. (2012) Case Series: Deep Brain Stimulation in Patients with FXTAS. Brain Disord Ther 1:104. doi:10.4172/2168-975X.1000104|
|Copyright: © 2012 Hagerman RJ, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.|
Objective: We describe 3 carriers of the FMR1 premutation with the Fragile X-associated Tremor Ataxia Syndrome (FXTAS) whose tremor was significantly improved by bilateral Deep Brain Stimulation (DBS) to Ventral Intermediate nucleus (Vim) of the thalamus.
Background: FXTAS is a recently described neurodegenerative disorder caused by CGG expansions of the FMR1 gene within the premutation range (55 to 200 CGG repeats). Individuals with FXTAS typically develop an intention tremor followed by gait ataxia within two years. Vim DBS has been shown to effectively treat tremor in a variety of disorders, including Parkinson’s disease and essential tremor.
Design/Methods/Results: Three men ages 62, 59 and 70 with FXTAS were treated surgically with bilateral Vim DBS. All patients experienced a significantly beneficial effect on tremor. Ataxia improved in case 1 and temporarily in case 2, but worsened in case 3. All patients experienced mild worsening of dysarthria, although the patients and their families unanimously felt there was a worthwhile benefit overall.
Conclusions: These cases provided first hand evidence that bilateral Vim DBS effectively manages tremor in selected patients with FXTAS. DBS may prove to be a viable therapeutic option for treating tremor and/or ataxia with or without other medical therapeutics in patients with FXTAS.