Spinocerebellar ataxia type 31: A clinical and radiological literature review

Saucier, Jacob; Al-Qadi, Mohammad; Amor, Mouna Ben; Ishikawa, Kinya; Chamard-Witkowski, Ludivine

doi:10.1016/j.jns.2022.120527

Cited by 5 publications

(4 citation statements)

References 69 publications

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“…We will include studies involving patients with DCA and exclude studies involving individuals with ataxia other than DCA. DCA encompasses a large number of diagnoses,1 which typically are ADSCA,3 SCA,4–6 FA,7 MSA-C,8 SAOA9 and ARSACS 10. SCA is most typically of the SCA1, 2, 3, 6 and 31 subtypes, among others 54.…”

Section: Methods and Analysismentioning

confidence: 99%

“…Degenerative cerebellar ataxia (DCA) 1 is a group of inherited neurodegenerative disorders that are characterised by progressive cerebellar ataxia. 2 Representative diseases include autosomal dominant spinocerebellar ataxia (ADSCA), 3 spinocerebellar ataxia (SCA), [4][5][6] Friedreich's ataxia (FA), 7 multiple system atrophy with cerebellar ataxia (MSA-C), 8 sporadic adult-onset ataxia of unknown aetiology (SAOA) 9 and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). 10 The pathological hallmark of almost all types of DCA is the loss of neurons such as Purkinje cells in the cerebellum, which leads to its atrophy.…”

Section: Introductionmentioning

confidence: 99%

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Effects of non-invasive brain stimulation for degenerative cerebellar ataxia: a protocol for a systematic review and meta-analysis

et al. 2023

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IntroductionTo date, the medical and rehabilitation needs of people with degenerative cerebellar ataxia (DCA) are not fully met because no curative treatment has yet been established. Movement disorders such as cerebellar ataxia and balance and gait disturbance are common symptoms of DCA. Recently, non-invasive brain stimulation (NIBS) techniques, including repetitive transcranial magnetic stimulation and transcranial electrical stimulation, have been reported as possible intervention methods to improve cerebellar ataxia. However, evidence of the effects of NIBS on cerebellar ataxia, gait ability, and activity of daily living is insufficient. This study will aim to systematically evaluate the clinical effects of NIBS on patients with DCA.Methods and analysisWe will conduct a preregistered systematic review and meta-analysis based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. We will include randomised controlled trials to assess the effects of NIBS on patients with DCA. The primary clinical outcome will be cerebellar ataxia, as measured by the Scale for Assessment and Rating of Ataxia and the International Cooperative Ataxia Rating Scale. The secondary outcomes will include gait speed, functional ambulatory capacity and functional independence measure, as well as any other reported outcomes that the reviewer considers important. The following databases will be searched: PubMed, Cochrane Central Register of Controlled Trials, CINAHL and PEDro. We will assess the strength of the evidence included in the studies and estimate the effects of NIBS.Ethics and disseminationBecause of the nature of systematic reviews, no ethical issues are anticipated. This systematic review will provide evidence on the effects of NIBS in patients with DCA. The findings of this review are expected to contribute to clinical decision-making towards selecting NIBS techniques for treatment and generating new clinical questions to be addressed.PROSPERO registration numberCRD42023379192.

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Section: Methods and Analysismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Effects of non-invasive brain stimulation for degenerative cerebellar ataxia: a protocol for a systematic review and meta-analysis

et al. 2023

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“…Sixteen adults (people with DCA, n = 8; age-matched healthy adults, n = 8) participated in this study. They were diagnosed with ADSCD 9 , SAOA 10 , multiple system atrophy (MSA), MSA-C 7 , or spinocerebellar ataxia type6 (SCA6) 5 or type31(SCA31) 4 . The DCA group had a mean (± standard deviation) of 107.3 ± 64.0 months since diagnosis and a total SARA (mean ± standard deviation) score of 18.8 ± 5.9.…”

Section: Methodsmentioning

confidence: 99%

Excessive excitability of inhibitory cortical circuit and disturbance of ballistic targeting movement in degenerative cerebellar ataxia

Matsugi,

Nishishita,

Bando

et al. 2023

Sci Rep

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This study aimed to investigate abnormalities in inhibitory cortical excitability and motor control during ballistic-targeting movements in individuals with degenerative cerebellar ataxia (DCA). Sixteen participants took part in the study (DCA group [n = 8] and healthy group [n = 8]). The resting motor-threshold and cortical silent period (cSP) were measured in the right-hand muscle using transcranial magnetic stimulation over the left primary motor cortex. Moreover, the performance of the ballistic-targeting task with right wrist movements was measured. The Scale for the Assessment and Rating of Ataxia was used to evaluate the severity of ataxia. The results indicated that the cSP was significantly longer in participants with DCA compared to that in healthy controls. However, there was no correlation between cSP and severity of ataxia. Furthermore, cSP was linked to the ballistic-targeting task performance in healthy participants but not in participants with DCA. These findings suggest that there is excessive activity in the gamma-aminobutyric acid-mediated cortical inhibitory circuit in individuals with DCA. However, this increase in inhibitory activity not only fails to contribute to the control of ballistic-targeting movement but also shows no correlation with the severity of ataxia. These imply that increased excitability in inhibitory cortical circuits in the DCA may not contribute the motor control as much as it does in healthy older adults under limitations associated with a small sample size. The study's results contribute to our understanding of motor control abnormalities in people with DCA and provide potential evidence for further research in this area.

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“…Rarely there may be rest tremor, and neck posturing [ 129 130 131 ]. SCA31 usually presents with a relatively pure form of cerebellar ataxia, with tremor in a few (about 4%) patients [ 132 ]. A series of five SCA31 patients with nigrostriatal dopaminergic dysfunction, noted two patients with tremor [ 133 ].…”

Section: Classification Of Scamentioning

confidence: 99%