Genetic rhabdomyolysis within the spectrum of the Spinocerebellar Ataxia type 2 responsive to pregabalin

BACKGROUND: Spinocerebellar Ataxia type 2 is a slowly progressive adult onset ataxia with a broad clinical presentation. CASE PRESENTATION: We describe a man with Spinocerebellar Ataxia type 2 with chronic, severe, and recurrent rhabdomyolysis, as part of the cerebellar ataxia genetic spectrum. Init...

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Autores principales: Rossi, Fabian, Ma, Joe, Tsakadze, Nina, Benes-Lima, Lourdes, Gonzalez, Julio Araque, Hoffmann, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7934527/
https://www.ncbi.nlm.nih.gov/pubmed/33673860
http://dx.doi.org/10.1186/s40673-021-00131-7
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author Rossi, Fabian
Ma, Joe
Tsakadze, Nina
Benes-Lima, Lourdes
Gonzalez, Julio Araque
Hoffmann, Michael
author_facet Rossi, Fabian
Ma, Joe
Tsakadze, Nina
Benes-Lima, Lourdes
Gonzalez, Julio Araque
Hoffmann, Michael
author_sort Rossi, Fabian
collection PubMed
description BACKGROUND: Spinocerebellar Ataxia type 2 is a slowly progressive adult onset ataxia with a broad clinical presentation. CASE PRESENTATION: We describe a man with Spinocerebellar Ataxia type 2 with chronic, severe, and recurrent rhabdomyolysis, as part of the cerebellar ataxia genetic spectrum. Initially rhabdomyolysis was refractory to multiple medications, but entirely resolved and remained in chronic remission with pregabalin. CONCLUSIONS: This is the first report of Spinocerebellar Ataxia type 2 associated with chronic, severe, recurrent rhabdomyolysis as part of its genetic phenotype responsive to pregabalin.
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spelling pubmed-79345272021-03-09 Genetic rhabdomyolysis within the spectrum of the Spinocerebellar Ataxia type 2 responsive to pregabalin Rossi, Fabian Ma, Joe Tsakadze, Nina Benes-Lima, Lourdes Gonzalez, Julio Araque Hoffmann, Michael Cerebellum Ataxias Case Report BACKGROUND: Spinocerebellar Ataxia type 2 is a slowly progressive adult onset ataxia with a broad clinical presentation. CASE PRESENTATION: We describe a man with Spinocerebellar Ataxia type 2 with chronic, severe, and recurrent rhabdomyolysis, as part of the cerebellar ataxia genetic spectrum. Initially rhabdomyolysis was refractory to multiple medications, but entirely resolved and remained in chronic remission with pregabalin. CONCLUSIONS: This is the first report of Spinocerebellar Ataxia type 2 associated with chronic, severe, recurrent rhabdomyolysis as part of its genetic phenotype responsive to pregabalin. BioMed Central 2021-03-05 /pmc/articles/PMC7934527/ /pubmed/33673860 http://dx.doi.org/10.1186/s40673-021-00131-7 Text en © The Author(s) 2021 Open AccessThis 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/. 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 in a credit line to the data.
spellingShingle Case Report
Rossi, Fabian
Ma, Joe
Tsakadze, Nina
Benes-Lima, Lourdes
Gonzalez, Julio Araque
Hoffmann, Michael
Genetic rhabdomyolysis within the spectrum of the Spinocerebellar Ataxia type 2 responsive to pregabalin
title Genetic rhabdomyolysis within the spectrum of the Spinocerebellar Ataxia type 2 responsive to pregabalin
title_full Genetic rhabdomyolysis within the spectrum of the Spinocerebellar Ataxia type 2 responsive to pregabalin
title_fullStr Genetic rhabdomyolysis within the spectrum of the Spinocerebellar Ataxia type 2 responsive to pregabalin
title_full_unstemmed Genetic rhabdomyolysis within the spectrum of the Spinocerebellar Ataxia type 2 responsive to pregabalin
title_short Genetic rhabdomyolysis within the spectrum of the Spinocerebellar Ataxia type 2 responsive to pregabalin
title_sort genetic rhabdomyolysis within the spectrum of the spinocerebellar ataxia type 2 responsive to pregabalin
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7934527/
https://www.ncbi.nlm.nih.gov/pubmed/33673860
http://dx.doi.org/10.1186/s40673-021-00131-7
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