Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6

Yang, Chen; Lai, Ruo Yah; Amokrane, Nadia; Lin, Chi‐Ying; Figueroa, Karla P.; Pulst, Stefan M.; Perlman, Susan; Wilmot, George; Gómez, Christopher M.; Schmahmann, Jeremy D.; Paulson, Henry L.; Shakkottai, Vikram G.; Rosenthal, Liana S.; Ying, Sarah H.; Zesiewicz, Theresa; Bushara, Khalaf; Geschwind, Michael D.; Xia, Guangbin; Subramony, S. H.; Ashizawa, Tetsuo; Troche, Michelle S.; Kuo, Sheng Han

doi:10.1016/j.jns.2020.116878

Cited by 4 publications

(2 citation statements)

References 26 publications

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“…SCA1 patients have early dysarthria and dysphagia. 196 SCA2 patients usually have slow saccades, hyporeflexia, truncal titubation, and postural and rest tremor. 171 172 SCA3 patients often have dystonia, depression, restless leg syndrome, and levodopa-responsive parkinsonism.…”

Section: Genetic Causes For Ataxiamentioning

confidence: 99%

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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Section: Genetic Causes For Ataxiamentioning

confidence: 99%

Ataxias: Hereditary, Acquired, and Reversible Etiologies

Lin

Kuo

2023

Semin Neurol

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“…They mainly occur in adults aged 30–40 years old but can also occur in children and the elderly population [4] , [5] , [6] . In addition, SCA patients have many non-ataxia symptoms, such as spasticity, dystonia, dysphagia, parkinsonism, oculomotor abnormalities, and sleep disorders [7] , [8] , [9] , [10] . SCA patients' ability to move and communicate becomes significantly limited, which seriously negatively affects their quality of life, making them vulnerable to anxiety and depression.…”

Section: Introductionmentioning

confidence: 99%

Anxiety and depression in spinocerebellar ataxia patients during the COVID-19 pandemic in China: A cross-sectional study

Gong

Chen

Liu

et al. 2021

Journal of Clinical Neuroscience

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Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia

Potashman,

Rudell,

Pavisic

et al. 2024

Cerebellum

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The functional Scale for the Assessment and Rating of Ataxia (f-SARA) assesses Gait, Stance, Sitting, and Speech. It was developed as a potentially clinically meaningful measure of spinocerebellar ataxia (SCA) progression for clinical trial use. Here, we evaluated content validity of the f-SARA. Qualitative interviews were conducted among individuals with SCA1 (n = 1) and SCA3 (n = 6) and healthcare professionals (HCPs) with SCA expertise (USA, n = 5; Europe, n = 3). Interviews evaluated symptoms and signs of SCA and relevance of f-SARA concepts for SCA. HCP cognitive debriefing was conducted. Interviews were recorded, transcribed, coded, and analyzed by ATLAS.TI software. Individuals with SCA1 and 3 reported 85 symptoms, signs, and impacts of SCA. All indicated difficulties with walking, stance, balance, speech, fatigue, emotions, and work. All individuals with SCA1 and 3 considered Gait, Stance, and Speech relevant f-SARA concepts; 3 considered Sitting relevant (42.9%). All HCPs considered Gait and Speech relevant; 5 (62.5%) indicated Stance was relevant. Sitting was considered a late-stage disease indicator. Most HCPs suggested inclusion of appendicular items would enhance clinical relevance. Cognitive debriefing supported clarity and comprehension of f-SARA. Maintaining current abilities on f-SARA items for 1 year was considered meaningful for most individuals with SCA1 and 3. All HCPs considered meaningful changes as stability in f-SARA score over 1–2 years, 1–2-point change in total f-SARA score, and deviation from natural history. These results support content validity of f-SARA for assessing SCA disease progression in clinical trials.

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Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6

Cited by 4 publications

References 26 publications

Ataxias: Hereditary, Acquired, and Reversible Etiologies

Ataxias: Hereditary, Acquired, and Reversible Etiologies

Anxiety and depression in spinocerebellar ataxia patients during the COVID-19 pandemic in China: A cross-sectional study

Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia

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