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

Frontiers in Neurology
Piotr AlsterAndrzej Friedman

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.

References

Nov 22, 2011·Neurologia i neurochirurgia polska·Dariusz KoziorowskiAndrzej Friedman
Jan 31, 2012·Movement Disorders : Official Journal of the Movement Disorder Society·Suhan SenovaStéphane Palfi
Feb 22, 2012·Movement Disorders : Official Journal of the Movement Disorder Society·Tao XieBlair Ford
Feb 18, 2014·Neuromodulation : Journal of the International Neuromodulation Society·Genko OyamaNobutaka Hattori
Jan 13, 2015·Parkinsonism & Related Disorders·Daniel WeissRejko Krüger
Apr 12, 2015·Neurology·Maria Gabriela dos Santos GhilardiErich Talamoni Fonoff
Apr 1, 2016·Movement Disorders : Official Journal of the Movement Disorder Society·Yoshinori HiguchiToru Serizawa
Jul 5, 2016·Neurologia i neurochirurgia polska·Gertrúd TamásIstván Balás
May 17, 2017·Current Opinion in Neurology·Alfonso FasanoEsther Cubo
Sep 5, 2017·Stereotactic and Functional Neurosurgery·Sudesh S RajuL Dade Lunsford
Dec 3, 2017·World Neurosurgery·Joost A H HolslagJ Marc C van Dijk

❮ Previous
Next ❯

Citations

Jan 15, 2021·Clinical Genetics·Nattaporn TassanakijpanichJuthamas Worachotekamjorn

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR
pharmacotherapy

Software Mentioned

GammaPlan

Related Concepts

Related Feeds

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Related Papers

Neurología : publicación oficial de la Sociedad Española de Neurología
R Zabalza Estévez
Journal of Medical Genetics
Sébastien JacquemontPaul J Hagerman
© 2022 Meta ULC. All rights reserved