Making a Difference-Positive Effect of Unilateral VIM Gamma Knife Thalamotomy in the Therapy of Tremor in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

Piotr Alster; Dariusz M Koziorowski; Mirosław Za Bek; Sebastian Dzierzȩcki; Jacek Ma Dry; Karolina Duszyńska-Wa S; Hanna Grygarowicz; Justyna Zielonko; Leszek Królicki; Andrzej Friedman

doi:10.3389/fneur.2018.00512

Making a Difference-Positive Effect of Unilateral VIM Gamma Knife Thalamotomy in the Therapy of Tremor in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

Front Neurol. 2018 Jun 27:9:512. doi: 10.3389/fneur.2018.00512. eCollection 2018.

Affiliations

¹ Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
² Department of Neurosurgery, Medical Centre for Postgraduate Education, Warsaw, Poland.
³ Nuclear Medicine, Medical University of Warsaw, Warsaw, Poland.

Abstract

Fragile X Tremor Ataxia Syndrome (FXTAS) is a syndrome based on expansion of the repeats of CGG triplets. The symptoms include action tremor and cerebellar gait ataxia. Additionally symptomatology of FXTAS may be associated to parkinsonism, executive function deficits, dementia, neuropathy and dysautonomia. We present a case of a patient who after 20 year history of progressive tremor and ataxia, was diagnosed after genetic examination as mutation of FXTAS. For the treatment of tremor the patient underwent Gamma Knife (GK) thalamotomy. Reduced tremor on the right side and improvement in everyday activities were observed in the outcome of the treatment. GK thalamotomy, in the context of this patient, did not significantly affect the ataxia.

Keywords: FXTAS; gamma knife (GK); radiosurgery; thalamotomy; tremor.

Publication types

Case Reports