Swallowing Function Evaluation in a Patient with Gerstmann-Sträussler-Scheinker Disease with Pro105Leu: A Case Report

Author:

Nakane AyakoORCID,Hasegawa ShoheiORCID,Ishii Miki,Tamai Tomoe,Moritoyo Rieko,Saito Mitsuko,Ando Mariko,Tohara Haruka

Abstract

Gerstmann-Sträussler-Scheinker disease (GSS) is a genetic prion disease. Swallowing function evaluation in patients with GSS remains unclear. Here, we describe a case of videofluoroscopic examination of swallowing (VF) to facilitate continued oral ingestion in a patient with P105L GSS. A 67-year-old woman developed gait disturbance and Parkinsonism symptoms at the age of 54 years. Since her family wanted her to continue oral ingestion, we performed VF, which revealed impairment and preservation of the oral and pharyngeal phases, respectively. Moreover, the impairment of the oral phase was improved by adjusting the patient’s posture and food consistency. A swallowing function evaluation based on the condition of a patient with GSS may facilitate continued oral ingestion.

Funder

Yuumi Memorial Foundation for Home Health Care

Publisher

MDPI AG

Subject

Health, Toxicology and Mutagenesis,Public Health, Environmental and Occupational Health

Reference19 articles.

1. A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis

2. Health, Labour, and Welfare Policy Research Grants. Research Program on Rare and Intractable Diseases. Research Group on Surveillance and Infection Control of Prion Disease/Japanese Society of Neurologyhttp://prion.umin.jp/guideline/cjd_2020.pdf

3. PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit

4. Manual for the Videofluorographic Study of Swallowing;Logemann,1993

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