Clinicopathological correlates of pyramidal signs in multiple system atrophy

Lin, Chi‐Ying; Viswanathan, Anisha; Chen, Tiffany X.; Mitsumoto, Hiroshi; Vonsattel, Jean Paul; Faust, Phyllis L.; Kuo, Sheng‐Han

doi:10.1002/acn3.51576

Cited by 3 publications

(5 citation statements)

References 35 publications

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“…Unfortunately, he refused to undergo EMG studies. Recently, a study about MSA found that patients with low pyramidal scores are more likely to have erectile dysfunction ( 21 ). The association between ataxia symptoms and autonomic dysfunction in SCA3 requires future exploration.…”

Section: Discussionmentioning

confidence: 99%

Autonomic dysfunction as the initial presentation in spinocerebellar ataxia type 3: A case report and review of the literature

Jin

Chen²,

Li³

et al. 2022

Front. Neurol.

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Spinocerebellar ataxia type 3 (SCA3), as the most frequent autosomal dominant ataxia worldwide, is characterized by progressive cerebellar ataxia, dysarthria and extrapyramidal signs. Additionally, autonomic dysfunction, as a common clinical symptom, present in the later stage of SCA3. Here, we report a 44-year-old male patient with early feature of autonomic dysfunction includes hyperhidrosis and sexual dysfunction, followed by mild ataxia symptoms. The Unified Multiple System Atrophy Rating Scale (UMSARS) indicated significant dysautonomia during autonomic function testing. Combination of early and autonomic abnormalities and ataxia would be more characteristic of the cerebellar type of multiple system atrophy (MSA-C), the patient's positive family history and identification of an ATXN3 gene mutation supported SCA3 diagnosis. To best of our knowledge, the feature as the initial presentation in SCA3 has not been described. Our study demonstrated that autonomic dysfunction may have occurred during the early stages of SCA3 disease.

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Section: Discussionmentioning

confidence: 99%

Autonomic dysfunction as the initial presentation in spinocerebellar ataxia type 3: A case report and review of the literature

Jin

Chen²,

Li³

et al. 2022

Front. Neurol.

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“…123 Last but not least, an unexplained Babinski sign is listed as a supportive motor feature based on the involvement of the pyramidal system. 116…”

Section: Degenerative Causes Of Ataxiamentioning

confidence: 99%

“…123 Last but not least, an unexplained Babinski sign is listed as a supportive motor feature based on the involvement of the pyramidal system. 116 Challenges remain in differentiating MSA versus PD in the context of parkinsonism with neurogenic orthostatic hypotension. Laboratory tests such as scintigraphy with 123Imetaiodobenzylguanidine enable the quantification of postganglionic sympathetic cardiac innervation to differentiate MSA versus PD, 124 but clinical application has so far been limited because it is not widely performed in clinical settings.…”

Section: Degenerative Causes Of Ataxia Multiple System Atrophymentioning

confidence: 99%

“…Pyramidal symptoms and signs, such as hyperreflexia, are an often neglected but useful clinical pearls to assist diagnosis. Pyramidal signs are more common in MSA-P patients 116 and can be associated with pathology in the motor cortex. 117 As opposed to Lewy bodies consisting of aggregates of neuronal α-synuclein in Parkinson disease (PD), in MSA, α-synuclein deposits are primarily found in the glial cells, called glial cytoplasmic inclusions, as the hallmark of MSA pathology.…”

Section: Degenerative Causes Of Ataxiamentioning

confidence: 99%

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Ataxias: Hereditary, Acquired, and Reversible Etiologies

Lin

Kuo

2023

Semin Neurol

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A variety of etiologies can cause cerebellar dysfunction, leading to ataxia symptoms. Therefore, the accurate diagnosis of the cause for cerebellar ataxia can be challenging. A step-wise investigation will reveal underlying causes, including nutritional, toxin, immune-mediated, genetic, and degenerative disorders. Recent advances in genetics have identified new genes for both autosomal dominant and autosomal recessive ataxias, and new therapies are on the horizon for targeting specific biological pathways. New diagnostic criteria for degenerative ataxias have been proposed, specifically for multiple system atrophy, which will have a broad impact on the future clinical research in ataxia. In this article, we aim to provide a review focus on symptoms, laboratory testing, neuroimaging, and genetic testing for the diagnosis of cerebellar ataxia causes, with a special emphasis on recent advances. Strategies for the management of cerebellar ataxia is also discussed.

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“…Multiple system atrophy (MSA) is a sporadic adultonset neurodegenerative disease characterized by parkinsonism, cerebellar ataxia, pyramidal signs and dysautonomia in any combination [1,2]. At disease onset, the predominant motor phenotype is either parkinsonian (MSA-P) or cerebellar (MSA-C).…”

Section: Introductionmentioning

confidence: 99%

An update on multiple system atrophy

Stankovic,

Kuijpers,

Kaufmann

2024

Current Opinion in Neurology

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Purpose of review Multiple system atrophy (MSA) is a rapidly progressive synucleinopathy characterized by autonomic failure, parkinsonism, and cerebellar ataxia. Here, we provide an update on α-synuclein's role in MSA pathophysiology and review the new Movement Disorders Society (MDS) diagnostic criteria and the utility of α-synuclein-based biomarkers. We also highlight ongoing efforts toward clinical trial readiness and review potential disease-modifying therapies undergoing clinical trials. Recent findings A role of urinary tract infections in triggering α-synuclein aggregation and contribution of genes implicated in oligodendroglial development have been suggested in the MSA pathophysiology. The clinically probable MSA category of the new diagnostic criteria shows improved accuracy in early disease stages. Predictors of phenoconversion from pure autonomic failure to MSA are now better defined. Alpha-synuclein strains in CSF and serum, phosphorylated α-synuclein deposits in the skin, and brain α-synuclein pathology visualized using PET ligand [18F]ACI-12589 are emerging as valuable diagnostic tools. Clinical trials in MSA investigate drugs targeting α-synuclein aggregation or preventing α-synuclein expression, along with stem cell and gene therapies to halt disease progression. Summary New MSA diagnostic criteria and α-synuclein-based biomarkers may enhance diagnostic accuracy while promising therapies are in development to address disease progression.

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Clinicopathological correlates of pyramidal signs in multiple system atrophy

Cited by 3 publications

References 35 publications

Autonomic dysfunction as the initial presentation in spinocerebellar ataxia type 3: A case report and review of the literature

Autonomic dysfunction as the initial presentation in spinocerebellar ataxia type 3: A case report and review of the literature

Ataxias: Hereditary, Acquired, and Reversible Etiologies

An update on multiple system atrophy

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