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Deep Brain Stimulation or Thalamotomy in Fragile X-Associated Tremor/Ataxia Syndrome? Case Report

Tamás, Gertrúd and Kovács, Norbert and Varga, Noémi Ágnes and Barsi, Péter and Erőss, Loránd (2016) Deep Brain Stimulation or Thalamotomy in Fragile X-Associated Tremor/Ataxia Syndrome? Case Report. NEUROLOGIA I NEUROCHIRURGIA POLSKA, 50. x. ISSN 0028-3843

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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 . M oderate, 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 . B ilateral stimulation of the subthalamic nucleus also resulted only in transie nt improvement. In the meantime, progressive gait ataxia and tetraataxia developed accompanied by other cerebellar symptoms, such as nystagmus and scanning speech. These correlat ed 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. P ostural tremor ceased two years later after thalamotomy on the left side, while kinetic tremor of the right hand also improved.

Item Type: Article
Subjects: R Medicine / orvostudomány > R1 Medicine (General) / orvostudomány általában
SWORD Depositor: MTMT SWORD
Depositing User: MTMT SWORD
Date Deposited: 25 Apr 2016 07:24
Last Modified: 25 Apr 2016 07:24
URI: http://real.mtak.hu/id/eprint/34875

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