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Should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias?
BACKGROUND: Despite the broad development of next-generation sequencing approaches recently, such as whole-exome sequencing, diagnostic workup of adult-onset progressive cerebellar ataxias without remarkable family history and with negative genetic panel testing for SCAs remains a complex and expens...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444269/ https://www.ncbi.nlm.nih.gov/pubmed/32922825 http://dx.doi.org/10.1186/s40673-020-00122-0 |
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author | Pedroso, José Luiz de Rezende Pinto, Wladimir Bocca Vieira Barsottini, Orlando Graziani Povoas Oliveira, Acary Souza Bulle |
author_facet | Pedroso, José Luiz de Rezende Pinto, Wladimir Bocca Vieira Barsottini, Orlando Graziani Povoas Oliveira, Acary Souza Bulle |
author_sort | Pedroso, José Luiz |
collection | PubMed |
description | BACKGROUND: Despite the broad development of next-generation sequencing approaches recently, such as whole-exome sequencing, diagnostic workup of adult-onset progressive cerebellar ataxias without remarkable family history and with negative genetic panel testing for SCAs remains a complex and expensive clinical challenge. CASE PRESENTATION: In this article, we report a Brazilian man with adult-onset slowly progressive pure cerebellar ataxia, which developed neuropathy and hearing loss after fifteen years of ataxia onset, in which a primary mitochondrial DNA defect (MERRF syndrome - myoclonus epilepsy with ragged-red fibers) was confirmed through muscle biopsy evaluation and whole-exome sequencing. CONCLUSIONS: Mitochondrial disorders are a clinically and genetically complex and heterogenous group of metabolic diseases, resulting from pathogenic variants in the mitochondrial DNA or nuclear DNA. In our case, a correlation with histopathological changes identified on muscle biopsy helped to clarify the definitive diagnosis. Moreover, in neurodegenerative and neurogenetic disorders, some symptoms may be evinced later during disease course. We suggest that late-onset and adult pure undetermined ataxias should be considered and investigated for mitochondrial disorders, particularly MERRF syndrome and other primary mitochondrial DNA defects, together with other more commonly known nuclear genes. |
format | Online Article Text |
id | pubmed-7444269 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-74442692020-09-11 Should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias? Pedroso, José Luiz de Rezende Pinto, Wladimir Bocca Vieira Barsottini, Orlando Graziani Povoas Oliveira, Acary Souza Bulle Cerebellum Ataxias Case Report BACKGROUND: Despite the broad development of next-generation sequencing approaches recently, such as whole-exome sequencing, diagnostic workup of adult-onset progressive cerebellar ataxias without remarkable family history and with negative genetic panel testing for SCAs remains a complex and expensive clinical challenge. CASE PRESENTATION: In this article, we report a Brazilian man with adult-onset slowly progressive pure cerebellar ataxia, which developed neuropathy and hearing loss after fifteen years of ataxia onset, in which a primary mitochondrial DNA defect (MERRF syndrome - myoclonus epilepsy with ragged-red fibers) was confirmed through muscle biopsy evaluation and whole-exome sequencing. CONCLUSIONS: Mitochondrial disorders are a clinically and genetically complex and heterogenous group of metabolic diseases, resulting from pathogenic variants in the mitochondrial DNA or nuclear DNA. In our case, a correlation with histopathological changes identified on muscle biopsy helped to clarify the definitive diagnosis. Moreover, in neurodegenerative and neurogenetic disorders, some symptoms may be evinced later during disease course. We suggest that late-onset and adult pure undetermined ataxias should be considered and investigated for mitochondrial disorders, particularly MERRF syndrome and other primary mitochondrial DNA defects, together with other more commonly known nuclear genes. BioMed Central 2020-08-24 /pmc/articles/PMC7444269/ /pubmed/32922825 http://dx.doi.org/10.1186/s40673-020-00122-0 Text en © The Author(s) 2020 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 Pedroso, José Luiz de Rezende Pinto, Wladimir Bocca Vieira Barsottini, Orlando Graziani Povoas Oliveira, Acary Souza Bulle Should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias? |
title | Should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias? |
title_full | Should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias? |
title_fullStr | Should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias? |
title_full_unstemmed | Should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias? |
title_short | Should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias? |
title_sort | should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias? |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444269/ https://www.ncbi.nlm.nih.gov/pubmed/32922825 http://dx.doi.org/10.1186/s40673-020-00122-0 |
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