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

Gertrúd Tamás, N. Kovács, Noémi Ágnes Varga, P. Barsi, L. Erőss, Mária Judit Molnár, István Balás

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
JournalNeurologia i Neurochirurgia Polska
DOIs
Publication statusAccepted/In press - 2016

Fingerprint

Deep Brain Stimulation
Tremor
Gait Ataxia
Essential Tremor
Magnetic Resonance Imaging
Ventral Thalamic Nuclei
Subthalamic Nucleus
Genetic Testing
Atrophy
Hand
Fragile X Tremor Ataxia Syndrome
Brain
Genes

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Surgery

Cite this

Deep brain stimulation or thalamotomy in fragile X-associated tremor/ataxia syndrome? Case report. / Tamás, Gertrúd; Kovács, N.; Varga, Noémi Ágnes; Barsi, P.; Erőss, L.; Molnár, Mária Judit; Balás, István.

In: Neurologia i Neurochirurgia Polska, 2016.

Research output: Contribution to journalArticle

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