Differential Progression of Dysphagia in Heredity and Sporadic Ataxias Involving Multiple Systems

Isono, Chiharu; Hirano, Minoru; Sakamoto, Hikaru; Ueno, Shu‐ichi; Kusunoki, Susumu; Nakamura, Yusaku

doi:10.1159/000442252

Cited by 10 publications

(13 citation statements)

References 22 publications

(25 reference statements)

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“…Interestingly, disease severity rather than age or disease duration were identified as risk factors for aspiration pneumonia (67). These results are in line with the findings by Isono who showed that pharyngeal dysphagia severity did not correlate with disease duration (61). An analysis of videofluoroscopic examinations in 59 MSA patients showed pharyngeal symptoms to be more often disturbed than oral symptoms.…”

Section: Pharyngeal Findings In Msasupporting

confidence: 93%

“…It should be taken into account that most of these studies were performed in Japan, a noteworthy fact when considering the higher prevalence of MSA-C in comparison to MSA-P (2). Similar to laryngeal abnormalities, swallowing is often impaired early in the disease (61, 62). There are varying reports about time of onset of dysphagia during the course of MSA.…”

Section: Pharyngeal Findings In Msamentioning

confidence: 99%

“…There are varying reports about time of onset of dysphagia during the course of MSA. Isono and colleagues reported dysphagia in MSA-C patients to begin 4.6 ± 3.5 years after disease onset (61). Petrovic in contrast described a much later onset of dysphagia in MSA-P patients at 9.0 ± 3.7 years (63).…”

Section: Pharyngeal Findings In Msamentioning

confidence: 99%

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The Shaking Palsy of the Larynx—Potential Biomarker for Multiple System Atrophy: A Pilot Study and Literature Review

et al. 2019

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In its early stages multiple system atrophy (MSA), a neurodegenerative movement disorder, can be difficult to differentiate from idiopathic Parkinson's disease (PD), and emphasis has been put on identifying premotor symptoms to allow for its early identification. The occurrence of vegetative symptoms in addition to motor impairment, such as orthostatic hypotension and neurogenic bladder dysfunction, enable the clinical diagnosis in the advanced stages of the disease. Usually with further disease progression, laryngeal abnormalities become clinically evident and can manifest in laryngeal stridor due to impaired vocal fold motion, such as vocal fold abduction restriction, mostly referred to as vocal fold paresis, or paradoxical vocal fold adduction during inspiration. While the pathogenesis of laryngeal stridor is discussed controversially, its occurrence is clearly associated with reduced life expectancy. Before the clinical manifestation of laryngeal dysfunction however, abnormal vocal fold motion can already be seen in patients that might not yet fulfill the diagnostic criteria of MSA. In this article we summarize the current literature on pharyngolaryngeal findings in MSA and report preliminary findings from a pilot study investigating eight consecutive MSA patients. Patients showed varying speech abnormalities. Only 2/8 patients exhibited laryngeal stridor. However, during FEES, all patients presented with irregular arytenoid cartilages movements and vocal fold abduction restriction. 3/8 showed vocal fold fixation and 1/8 paradoxical vocal fold motion. All patients presented with oropharyngeal dysphagia, 5/8 with penetration or aspiration events. We suggest that specific abnormal vocal fold motion can help identifying MSA patients and may allow for delimiting this disorder from idiopathic PD. These findings therefore may serve as a novel clinical biomarker for MSA. Based on the available data and our preliminary clinical experience we developed a standardized easy-to-implement task-protocol to be performed during flexible endoscopic evaluation of swallowing (FEES) for detection of MSA-related pharyngolaryngeal movement disorders. Furthermore, we initiated a prospective study to evaluate the diagnostic utility of this protocol.

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Section: Pharyngeal Findings In Msasupporting

confidence: 93%

Section: Pharyngeal Findings In Msamentioning

confidence: 99%

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The Shaking Palsy of the Larynx—Potential Biomarker for Multiple System Atrophy: A Pilot Study and Literature Review

et al. 2019

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“… 2 , 11 , 13 , 14 DNA was extracted with a DNA extraction kit (Qiagen Inc, Germantown, MD), and the region containing the CTA/CTG repeat of the ATXN8OS gene was amplified using PCR, as described previously. 5 , 15 The amplified products were purified with gel electrophoresis and subjected to Sanger sequencing. We analyzed the C9ORF72 and NOP56 genes by repeat-primed PCR assay, as described previously.…”

Section: Methodsmentioning

confidence: 99%

“… 1 , 13 , 14 When mutations in the ATXN8OS, C9ORF72 , or NOP56 gene were detected, the ERBB4 and COQ2 genes and genes for SCA3, SCA6, SCA7, SCA12, SCA17, SCA31 , and DRPLA were additionally examined. 15 , 18 The patients had a diagnosis of clinically definite, probable, or possible ALS, as defined in the revised El Escorial diagnostic criteria. Patients with sporadic ALS included 68 men and 34 women with an age of 65 ± 12 years (mean ± SD).…”

Section: Methodsmentioning

confidence: 99%

Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene

Hirano

Samukawa

Isono³

et al. 2018

Neurol Genet

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ObjectiveTo assess the contribution of noncoding repeat expansions in Japanese patients with amyotrophic lateral sclerosis (ALS).MethodsSporadic ALS in Western countries is frequently associated with noncoding repeat expansions in the C9ORF72 gene. Spinocerebellar ataxia type 8 (SCA8) is another noncoding repeat disease caused by expanded CTA/CTG repeats in the ATXN8OS gene. Although the involvement of upper and lower motor neurons in SCA8 has been reported, a positive association between SCA8 and ALS remains unestablished. Spinocerebellar ataxia type 36 is a recently identified disease caused by noncoding repeat expansions in the NOP56 gene and is characterized by motor neuron involvement. We collected blood samples from 102 Japanese patients with sporadic ALS and analyzed the ATXN8OS gene by the PCR–Sanger sequencing method and the C9ORF72 and NOP56 genes by repeat-primed PCR assay.ResultsThree patients with ALS (3%) had mutations in the ATXN8OS gene, whereas no patient had a mutation in the C9ORF72 or NOP56 gene. The mutation-positive patients were clinically characterized by neck weakness or bulbar-predominant symptoms. None of our patients had apparent cerebellar atrophy on MRI, but 2 had nonsymptomatic abnormalities in the white matter or putamen.ConclusionsOur finding reveals the importance of noncoding repeat expansions in Japanese patients with ALS and extends the clinical phenotype of SCA8. Three percent seems small but is still relatively large for Japan, considering that the most commonly mutated genes, including the SOD1 and SQSTM1 genes, only account for 2%–3% of sporadic patients each.

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Endoscopic Characteristics of Dysphagia in Multiple System Atrophy Compared to Parkinson's Disease

et al. 2021

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A BS TRACT: Background: Dysphagia is a major clinical concern in multiple system atrophy (MSA). A detailed evaluation of its major endoscopic features compared with Parkinson's disease (PD) is lacking.Objective: This study systematically assessed dysphagia in MSA compared with PD and correlated subjective dysphagia to objective endoscopic findings. Methods: Fifty-seven patients with MSA (median, 64 [interquartile range (IQR): 59-71] years; 35 women) underwent flexible endoscopic evaluation of swallowing using a specific MSA-flexible endoscopic evaluation of swallowing task protocol. Findings were compared with an age-matched cohort of 57 patients with PD (median, 67 [interquartile range: 60-73] years; 28 women). In a subcohort, subjective dysphagia was assessed using the Swallowing Disturbance Questionnaire and correlated to endoscopy findings. Results: Patients with MSA predominantly showed symptoms suggestive of oral-phase disturbance (premature spillage, 75.4%, piecemeal deglutition, 75.4%). Pharyngealphase symptoms occurred less often (pharyngeal residues, 50.9%; penetration/aspiration, 28.1%). In contrast, pharyngeal symptoms were the most common finding in PD (pharyngeal residues, 47.4%). Oral symptoms occurred less frequently in PD (premature spillage, 15.8%, P < 0.001; piecemeal deglutition, 1.8%, P < 0.01). Patients with MSA had a greater risk for oral-phase disturbances with increased disease severity (P < 0.05; odds ratio, 3.15). Patients with MSA showed a significantly higher intraindividual interswallow variability compared with PD. When correlating Swallowing Disturbance Questionnaire scores with endoscopy results, its cutoff, validated for PD, was not sensitive enough to identify patients with MSA with dysphagia. We developed a subscore for identifying dysphagia in MSA and calculated a new cutoff (sensitivity 85%, specificity 100%). Conclusions: In contrast with patients with PD, patients with dysphagic MSA more frequently present with oralphase symptoms and a significantly higher intraindividual interswallow variability. A novel Swallowing Disturbance Questionnaire MSA subscore may be a valuable tool to identify patients with MSA with early oropharyngeal dysphagia.

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Differential Progression of Dysphagia in Heredity and Sporadic Ataxias Involving Multiple Systems

Cited by 10 publications

References 22 publications

The Shaking Palsy of the Larynx—Potential Biomarker for Multiple System Atrophy: A Pilot Study and Literature Review

The Shaking Palsy of the Larynx—Potential Biomarker for Multiple System Atrophy: A Pilot Study and Literature Review

Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene

Endoscopic Characteristics of Dysphagia in Multiple System Atrophy Compared to Parkinson's Disease

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