Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients

Hadjivassiliou, Marios; Martindale, Joanne; Shanmugarajah, Priya; Grünewald, Richard A.; Sarrigiannis, Ptolemaios G.; Beauchamp, Nick; Garrard, Kate; Warburton, Rebecca; Sanders, David S.; Friend, Dale G.; Duty, S; Taylor, J. Paul; Hoggard, Nigel

doi:10.1136/jnnp-2016-314863

Cited by 165 publications

(119 citation statements)

References 23 publications

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“…Here, we used this technology to identify the mtDNA and nDNA variants in a cohort of 33 ataxia patients of Chinese descent. We have demonstrated that mtDNA mutations detected in the present study (12.1%,4/33) are more common than the previous reports (0%‐10%) . We detected 4 different mtDNA mutations including 2 mutations, m.8344A>G and m.9185T>C, which had been previously reported in patients with spinocerebellar ataxia .…”

Section: Discussionsupporting

confidence: 67%

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Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next‐generation sequencing

Dong

Yin

et al. 2018

CNS Neurosci Ther

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Section: Discussionsupporting

confidence: 67%

“…We have demonstrated that mtDNA mutations detected in the present study (12.1%,4/33) are more common than the previous reports (0%-10%). [7][8][9]23 We detected 4 different mtDNA mutations including 2 mutations, m.8344A>G and m.9185T>C, which had been previously reported in patients with spinocerebellar ataxia. 7,8 The m.9176T>C…”

Section: Discussionmentioning

confidence: 55%

Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next‐generation sequencing

Dong

Yin

et al. 2018

CNS Neurosci Ther

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“…In a recent prospective study, out of a total of 1500 patients with progressive ataxia, IMCAs accounted for 26% [17]. In the same series, idiopathic sporadic ataxias accounted for 20% of all ataxias.…”

Section: Discussionmentioning

confidence: 92%

Diagnostic Criteria for Primary Autoimmune Cerebellar Ataxia—Guidelines from an International Task Force on Immune-Mediated Cerebellar Ataxias

et al. 2020

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Aside from well-characterized immune-mediated ataxias with a clear trigger and/or association with specific neuronal antibodies, a large number of idiopathic ataxias are suspected to be immune mediated but remain undiagnosed due to lack of diagnostic biomarkers. Primary autoimmune cerebellar ataxia (PACA) is the term used to describe this later group. An International Task Force comprising experts in the field of immune ataxias was commissioned by the Society for Research on the Cerebellum and Ataxias (SRCA) in order to devise diagnostic criteria aiming to improve the diagnosis of PACA. The proposed diagnostic criteria for PACA are based on clinical (mode of onset, pattern of cerebellar involvement, presence of other autoimmune diseases), imaging findings (MRI and if available MR spectroscopy showing preferential, but not exclusive involvement of vermis) and laboratory investigations (CSF pleocytosis and/or CSF-restricted IgG oligoclonal bands) parameters. The aim is to enable clinicians to consider PACA when encountering a patient with progressive ataxia and no other diagnosis given that such consideration might have important therapeutic implications.

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“…Sporadic ataxia usually begins in middle age [68]. The investigation based on a large cohort of CA patients demonstrated that CAs are the result of diverse disease processes that can be genetic, gluten ataxia, idiopathic, alcohol-related, and others [23]. Nevertheless, immune-mediated ataxias are frequent.…”

Section: Discussionmentioning

confidence: 99%

Characterization of Mesenchymal Stem Cells Derived from Patients with Cerebellar Ataxia: Downregulation of the Anti-Inflammatory Secretome Profile

Kim

Han

Seo

et al. 2020

Cells

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Mesenchymal stem cell (MSC) therapy is a promising alternative approach for the treatment of neurodegenerative diseases, according to its neuroprotective and immunomodulatory potential. Despite numerous clinical trials involving autologous MSCs, their outcomes have often been unsuccessful. Several reports have indicated that MSCs from patients have low capacities in terms of the secretion of neurotrophic or anti-inflammatory factors, which might be associated with cell senescence or disease severity. Therefore, a new strategy to improve their capacities is required for optimal efficacy of autologous MSC therapy. In this study, we compared the secretory potential of MSCs among cerebellar ataxia patients (CA-MSCs) and healthy individuals (H-MSCs). Our results, including secretome analysis findings, revealed that CA-MSCs have lower capacities in terms of proliferation, oxidative stress response, motility, and immunomodulatory functions when compared with H-MSCs. The functional differences were validated in a scratch wound healing assay and neuron-glia co-cultures. In addition, the neuroprotective and immunoregulatory protein follistatin-like 1 (FSTL1) was identified as one of the downregulated proteins in the CA-MSC secretome, with suppressive effects on proinflammatory microglial activation. Our study findings suggest that targeting aspects of the downregulated anti-inflammatory secretome, such as FSTL1, might improve the efficacy of autologous MSC therapy for CA.

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Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients

Cited by 165 publications

References 23 publications

Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next‐generation sequencing

Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next‐generation sequencing

Diagnostic Criteria for Primary Autoimmune Cerebellar Ataxia—Guidelines from an International Task Force on Immune-Mediated Cerebellar Ataxias

Characterization of Mesenchymal Stem Cells Derived from Patients with Cerebellar Ataxia: Downregulation of the Anti-Inflammatory Secretome Profile

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