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Polyneuropathy in Gaucher disease type 1 and 3 – a descriptive case series

Polyneuropathy (PNP) has been reported to be a possible phenotypic feature in Gaucher disease type 1 (GD1), while less is known about PNP in type 3 (GD3). We performed a cross-sectional study, exploring PNP in a Swedish GD cohort. Clinical assessment and blood biochemistry were carried out in 8 pati...

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Autores principales: Andréasson, Mattias, Solders, Göran, Björkvall, Cecilia K., Machaczka, Maciej, Svenningsson, Per
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814858/
https://www.ncbi.nlm.nih.gov/pubmed/31653957
http://dx.doi.org/10.1038/s41598-019-51976-2
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author Andréasson, Mattias
Solders, Göran
Björkvall, Cecilia K.
Machaczka, Maciej
Svenningsson, Per
author_facet Andréasson, Mattias
Solders, Göran
Björkvall, Cecilia K.
Machaczka, Maciej
Svenningsson, Per
author_sort Andréasson, Mattias
collection PubMed
description Polyneuropathy (PNP) has been reported to be a possible phenotypic feature in Gaucher disease type 1 (GD1), while less is known about PNP in type 3 (GD3). We performed a cross-sectional study, exploring PNP in a Swedish GD cohort. Clinical assessment and blood biochemistry were carried out in 8 patients with GD1 and 11 patients with GD3. In patients with symptoms or clinical findings indicative of PNP, nerve conduction studies and quantitative sensory testing were performed. Assessments were compared to historic controls. A subclinical small fiber neuropathy (SFN) was demonstrated in 2 of 8 patients in the significantly (p = 0,021) older GD1 cohort. A large fiber PNP was evident in an additional 3 GD1 patients but could not be ascribed as disease manifestation. No GD3 patients exhibited neurophysiological evidence of small or large fiber PNP attributed to GD3. Compared to historic controls, no significant group differences were evident with regard to neuropathy rating scores. In summary, our study does not support large fiber PNP as a prevalent manifestation of GD. SFN is a possible feature in GD1, although small sample size limits definite conclusions. Our study provides novel data, arguing against clinically significant small or large fiber PNP in GD3.
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spelling pubmed-68148582019-10-30 Polyneuropathy in Gaucher disease type 1 and 3 – a descriptive case series Andréasson, Mattias Solders, Göran Björkvall, Cecilia K. Machaczka, Maciej Svenningsson, Per Sci Rep Article Polyneuropathy (PNP) has been reported to be a possible phenotypic feature in Gaucher disease type 1 (GD1), while less is known about PNP in type 3 (GD3). We performed a cross-sectional study, exploring PNP in a Swedish GD cohort. Clinical assessment and blood biochemistry were carried out in 8 patients with GD1 and 11 patients with GD3. In patients with symptoms or clinical findings indicative of PNP, nerve conduction studies and quantitative sensory testing were performed. Assessments were compared to historic controls. A subclinical small fiber neuropathy (SFN) was demonstrated in 2 of 8 patients in the significantly (p = 0,021) older GD1 cohort. A large fiber PNP was evident in an additional 3 GD1 patients but could not be ascribed as disease manifestation. No GD3 patients exhibited neurophysiological evidence of small or large fiber PNP attributed to GD3. Compared to historic controls, no significant group differences were evident with regard to neuropathy rating scores. In summary, our study does not support large fiber PNP as a prevalent manifestation of GD. SFN is a possible feature in GD1, although small sample size limits definite conclusions. Our study provides novel data, arguing against clinically significant small or large fiber PNP in GD3. Nature Publishing Group UK 2019-10-25 /pmc/articles/PMC6814858/ /pubmed/31653957 http://dx.doi.org/10.1038/s41598-019-51976-2 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as 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 images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Andréasson, Mattias
Solders, Göran
Björkvall, Cecilia K.
Machaczka, Maciej
Svenningsson, Per
Polyneuropathy in Gaucher disease type 1 and 3 – a descriptive case series
title Polyneuropathy in Gaucher disease type 1 and 3 – a descriptive case series
title_full Polyneuropathy in Gaucher disease type 1 and 3 – a descriptive case series
title_fullStr Polyneuropathy in Gaucher disease type 1 and 3 – a descriptive case series
title_full_unstemmed Polyneuropathy in Gaucher disease type 1 and 3 – a descriptive case series
title_short Polyneuropathy in Gaucher disease type 1 and 3 – a descriptive case series
title_sort polyneuropathy in gaucher disease type 1 and 3 – a descriptive case series
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814858/
https://www.ncbi.nlm.nih.gov/pubmed/31653957
http://dx.doi.org/10.1038/s41598-019-51976-2
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