AUTHOR=Cui Zhiqiang , Lan Yina , Chang Yan , Liu Xinyun , Wang Jian , Lou Xin , Wang Ruimin 

TITLE=Case report: Short-term efficacy and changes in 18F-FDG-PET with acute multi-target stimulation in spinocerebellar ataxia type 3 (SCA3/MJD)

JOURNAL=Frontiers in Neurology

VOLUME=Volume 14 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1246430

DOI=10.3389/fneur.2023.1246430

ISSN=1664-2295

ABSTRACT=Objective: Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is a rare neurodegenerative disease for which there is no specific treatment. Very few cases have been treated with single target deep brain stimulation (DBS) and the results were not satisfactory. We applied multi-target DBS in an SCA3/MJD patient and performed positron emission computed tomography (PET) before and after DBS to explore the short-term clinical therapeutic effect.: A 26-year-old right-hand-dominant female with a family history SCA3/MJD suffered from cerebellar ataxia and dystonia. Genetic testing indicated an expanded CAG trinucleotide repeat in the ATXN3 gene and a diagnosis of SCA3/MJD. Conservative treatment had no obvious effect; therefore, leads were implanted in the bilateral dentate nucleus (DN) and the globus pallidus internus (GPi) and connected to an external stimulation device. Treatment effect was evaluated in a double-blind, randomized protocol in five phases (over a total of 15 days): no stimulation, GPi, DN, or sham stimulation, and combined GPi and DN stimulation. 18 Ffluoro-2-deoxy-d-glucose and dopamine transporter PET, Scale for the Assessment and Rating of Ataxia, Fahn-Tolosa-Marin Clinical Rating Scale for Tremor (FTM), Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS), and SF-36 quality of life scores were compared before and after DBS.Results: Total Scale for the Assessment and Rating of Ataxia scores improved by approximately 42% (from 24 to 14). BFMDRS movement scores improved by approximately 30% (from 40.5 to 28.5). BFMDRS disability scores improved by approximately 12.5% (from 16 to 14). Daily living activities were not noticeably improved. Compared with the findings in pre-DBS imaging, 18 F-fluoro-2-deoxy-dglucose uptake increased in the cerebellum, while according to dopamine transporter imaging, there were no significant differences in the bilateral caudate nucleus and putamen.: Multi-target acute stimulation (DN DBS and GPi DBS) in SCA3/MJD can mildly improve cerebellar ataxia and dystonia and increase cerebellar metabolism. Keywords: Spinocerebellar ataxia type 3 (SCA3), Machado-Joseph disease (MJD), deep brain stimulation (DBS), dentate nucleus (DN), globus pallidus internus (GPi), 18 F-fluoro-2-deoxy-d-glucose positron emission computed tomography ( 18 F-FDG-PET), dopamine transporter (DAT) PET