open access

Vol 50, No 4 (2016)
Case reports
Submitted: 2015-10-05
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Deep brain stimulation or thalamotomy in fragile X-associated tremor/ataxia syndrome? Case report

Gertrúd Tamás, Norbert Kovács, Noémi Ágnes Varga, Péter Barsi, Loránd Erőss, Mária Judit Molnár, István Balás
DOI: 10.1016/j.pjnns.2016.04.004
·
Neurol Neurochir Pol 2016;50(4):303-308.

open access

Vol 50, No 4 (2016)
Case reports
Submitted: 2015-10-05

Abstract

We present the case of a 66-year-old man who has been treated for essential tremor since the age of 58. He developed mild cerebellar gait ataxia seven years after tremor onset. Moderate, global brain atrophy was identified on MRI scans. At the age of 68, only temporary tremor relief could be achieved by bilateral deep brain stimulation of the ventral intermedius nucleus of the thalamus. Bilateral stimulation of the subthalamic nucleus also resulted only in transient improvement. In the meantime, progressive gait ataxia and tetraataxia developed accompanied by other cerebellar symptoms, such as nystagmus and scanning speech. These correlated with progressive development of bilateral symmetric hyperintensity of the middle cerebellar peduncles on T2 weighted MRI scans. Genetic testing revealed premutation of the FMR1 gene, establishing the diagnosis of fragile X-associated tremor/ataxia syndrome. Although this is a rare disorder, it should be taken into consideration during preoperative evaluation of essential tremor. Postural tremor ceased two years later after thalamotomy on the left side, while kinetic tremor of the right hand also improved.

Abstract

We present the case of a 66-year-old man who has been treated for essential tremor since the age of 58. He developed mild cerebellar gait ataxia seven years after tremor onset. Moderate, global brain atrophy was identified on MRI scans. At the age of 68, only temporary tremor relief could be achieved by bilateral deep brain stimulation of the ventral intermedius nucleus of the thalamus. Bilateral stimulation of the subthalamic nucleus also resulted only in transient improvement. In the meantime, progressive gait ataxia and tetraataxia developed accompanied by other cerebellar symptoms, such as nystagmus and scanning speech. These correlated with progressive development of bilateral symmetric hyperintensity of the middle cerebellar peduncles on T2 weighted MRI scans. Genetic testing revealed premutation of the FMR1 gene, establishing the diagnosis of fragile X-associated tremor/ataxia syndrome. Although this is a rare disorder, it should be taken into consideration during preoperative evaluation of essential tremor. Postural tremor ceased two years later after thalamotomy on the left side, while kinetic tremor of the right hand also improved.

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Keywords

Fragile X tremor/ataxia syndrome, Ataxia, Tremor, Deep brain stimulation, Thalamotomy

About this article
Title

Deep brain stimulation or thalamotomy in fragile X-associated tremor/ataxia syndrome? Case report

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 50, No 4 (2016)

Pages

303-308

DOI

10.1016/j.pjnns.2016.04.004

Bibliographic record

Neurol Neurochir Pol 2016;50(4):303-308.

Keywords

Fragile X tremor/ataxia syndrome
Ataxia
Tremor
Deep brain stimulation
Thalamotomy

Authors

Gertrúd Tamás
Norbert Kovács
Noémi Ágnes Varga
Péter Barsi
Loránd Erőss
Mária Judit Molnár
István Balás

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