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Deep brain stimulation or thalamotomy in fragile X-associated tremor/ataxia syndrome? Case report
Affiliations- Department of Neurology, Semmelweis University, Budapest, Hungary
- Department of Neurology, University of Pécs, Pécs, Hungary
- Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary
- MR Research Centre, Semmelweis University, Budapest, Hungary
- National Institute of Clinical Neurosciences, Budapest, Hungary
- Department of Neurosurgery, University of Pécs, Pécs, Hungary
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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.
Keywords
Fragile X tremor/ataxia syndrome, Ataxia, Tremor, Deep brain stimulation, Thalamotomy
About this articleTitle
Deep brain stimulation or thalamotomy in fragile X-associated tremor/ataxia syndrome? Case report
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
303-308
Page views
344
Article views/downloads
698
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
