Fragile X-associated tremor/ataxia syndrome treated with multitarget deep brain stimulation.
BMJ Case Rep
; 17(5)2024 May 27.
Article
in En
| MEDLINE
| ID: mdl-38802254
ABSTRACT
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive hereditary neurodegenerative disorder which causes intention tremor and cerebellar ataxia. It typically affects the ageing population. Deep brain stimulation (DBS) is widely accepted in the treatment of common movement disorders and has been trialled in treating rare and complex neurodegenerative disorders. We report a case of a man in his 40s with a long history of tremor affecting his hands. MRI brain revealed high T2 signal in the middle cerebellar peduncles. Genetic testing revealed FMR1 premutation confirming the diagnosis of FXTAS. Subsequently, he was treated with multitarget DBS of the ventralis intermediate nucleus and ventralis oralis posterior nuclei bilaterally, with excellent neurological function at 9 years follow-up. This case suggests multitarget DBS for FXTAS with neurophysiology-guided DBS programming can provide excellent long-term tremor suppression in selected patients.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ataxia
/
Tremor
/
Deep Brain Stimulation
/
Fragile X Syndrome
Limits:
Humans
/
Male
Language:
En
Journal:
BMJ Case Rep
Year:
2024
Document type:
Article
Affiliation country:
Reino Unido
Country of publication:
Reino Unido