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

Jacek Ma̧Dry,Justyna Zielonko,Andrzej Friedman,Karolina Duszyńska-Wa̧S,Sebastian Dzierzȩcki,Piotr Alster,Mirosław Za̧Bek,Hanna Grygarowicz,Leszek Królicki,Dariusz M Koziorowski

doi:10.3389/fneur.2018.00512

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.

Highlights

Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) is an adult-onset neurodegenerative disorder which is often associated with action tremor and cerebellar gait ataxia [1]
The case presented in this study showed improvement in both rating scales (FTRS 54 – before and 44 – after, Tremor Rating Scale (TRS) – 28 – before and 14,5 after)
According to our best knowledge, this is the first case study of a patient with tremor in Fragile X Tremor Ataxia Syndrome (FXTAS) treated with Gamma Knife Radiosurgery (GK) thalamotomy

Summary

INTRODUCTION

Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) is an adult-onset neurodegenerative disorder which is often associated with action tremor and cerebellar gait ataxia [1]. Clinical features of FXTAS include parkinsonism, executive function deficits, dementia, neuropathy, and dysautonomia. These symptoms, especially when combined, are completely disabling and can cause severe detriment to the quality of life of patients. A T2-weighted magnetic resonance imaging (MRI) of affected individuals usually reveals the Middle Cerebellar Peduncle (MCP) sign, which is a marked symmetric bilateral hyperintensity within the middle cerebellar peduncle. Other areas observed as hyperintense include the splenium of the corpus callosum, pons, insula, and periventricular white matter.

BACKGROUND

DISCUSSION

Findings

CONCLUDING REMARKS

ETHICS STATEMENT