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A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy

BACKGROUND: Gerstmann-Straussler-Scheinker disease (GSS), an autosomal dominant prion disorder, usually presents as a slowly progressive cerebellar ataxia followed by later cognitive decline. We present a member of the GSS Indiana Kindred with supranuclear palsy, a less common feature in GSS. CASE P...

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Autores principales: Ufkes, Nicole A., Woodard, Craig, Dale, Marian L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6907140/
https://www.ncbi.nlm.nih.gov/pubmed/31890235
http://dx.doi.org/10.1186/s40734-019-0082-1
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author Ufkes, Nicole A.
Woodard, Craig
Dale, Marian L.
author_facet Ufkes, Nicole A.
Woodard, Craig
Dale, Marian L.
author_sort Ufkes, Nicole A.
collection PubMed
description BACKGROUND: Gerstmann-Straussler-Scheinker disease (GSS), an autosomal dominant prion disorder, usually presents as a slowly progressive cerebellar ataxia followed by later cognitive decline. We present a member of the GSS Indiana Kindred with supranuclear palsy, a less common feature in GSS. CASE PRESENTATION: A 42-year-old man presented with 12 months of progressive gait and balance difficulty. Exam was notable for ataxia and cerebellar eye movement abnormalities. Genetic testing revealed a F198S variant in the prion protein (PRNP) gene, the pathological variant of GSS associated with his family, the Indiana kindred. Eighteen months after initial presentation supranuclear palsy developed. CONCLUSIONS: GSS is a neurodegenerative prion disease with diverse clinical presentations, and exhibits greater variability in disease phenotype compared to other inherited spongiform encephalopathies. GSS should be on the differential for patients with ataxia and supranuclear palsy, and it is important to assess both horizontal and vertical saccades and optokinetic nystagmus in patients with ataxia.
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spelling pubmed-69071402019-12-30 A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy Ufkes, Nicole A. Woodard, Craig Dale, Marian L. J Clin Mov Disord Case Report BACKGROUND: Gerstmann-Straussler-Scheinker disease (GSS), an autosomal dominant prion disorder, usually presents as a slowly progressive cerebellar ataxia followed by later cognitive decline. We present a member of the GSS Indiana Kindred with supranuclear palsy, a less common feature in GSS. CASE PRESENTATION: A 42-year-old man presented with 12 months of progressive gait and balance difficulty. Exam was notable for ataxia and cerebellar eye movement abnormalities. Genetic testing revealed a F198S variant in the prion protein (PRNP) gene, the pathological variant of GSS associated with his family, the Indiana kindred. Eighteen months after initial presentation supranuclear palsy developed. CONCLUSIONS: GSS is a neurodegenerative prion disease with diverse clinical presentations, and exhibits greater variability in disease phenotype compared to other inherited spongiform encephalopathies. GSS should be on the differential for patients with ataxia and supranuclear palsy, and it is important to assess both horizontal and vertical saccades and optokinetic nystagmus in patients with ataxia. BioMed Central 2019-12-11 /pmc/articles/PMC6907140/ /pubmed/31890235 http://dx.doi.org/10.1186/s40734-019-0082-1 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Ufkes, Nicole A.
Woodard, Craig
Dale, Marian L.
A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy
title A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy
title_full A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy
title_fullStr A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy
title_full_unstemmed A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy
title_short A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy
title_sort case of gerstmann-straussler-scheinker (gss) disease with supranuclear gaze palsy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6907140/
https://www.ncbi.nlm.nih.gov/pubmed/31890235
http://dx.doi.org/10.1186/s40734-019-0082-1
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