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Adult-onset mitochondrial movement disorders: a national picture from the Italian Network

INTRODUCTION: Both prevalence and clinical features of the various movement disorders in adults with primary mitochondrial diseases are unknown. METHODS: Based on the database of the “Nation-wide Italian Collaborative Network of Mitochondrial Diseases”, we reviewed the clinical, genetic, neuroimagin...

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Autores principales: Montano, V., Orsucci, D., Carelli, V., La Morgia, C., Valentino, M. L., Lamperti, C., Marchet, S., Musumeci, O., Toscano, A., Primiano, G., Santorelli, F. M., Ticci, C., Filosto, M., Rubegni, A., Mongini, T., Tonin, P., Servidei, S., Ceravolo, R., Siciliano, G., Mancuso, Michelangelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8857085/
https://www.ncbi.nlm.nih.gov/pubmed/34259909
http://dx.doi.org/10.1007/s00415-021-10697-1
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author Montano, V.
Orsucci, D.
Carelli, V.
La Morgia, C.
Valentino, M. L.
Lamperti, C.
Marchet, S.
Musumeci, O.
Toscano, A.
Primiano, G.
Santorelli, F. M.
Ticci, C.
Filosto, M.
Rubegni, A.
Mongini, T.
Tonin, P.
Servidei, S.
Ceravolo, R.
Siciliano, G.
Mancuso, Michelangelo
author_facet Montano, V.
Orsucci, D.
Carelli, V.
La Morgia, C.
Valentino, M. L.
Lamperti, C.
Marchet, S.
Musumeci, O.
Toscano, A.
Primiano, G.
Santorelli, F. M.
Ticci, C.
Filosto, M.
Rubegni, A.
Mongini, T.
Tonin, P.
Servidei, S.
Ceravolo, R.
Siciliano, G.
Mancuso, Michelangelo
author_sort Montano, V.
collection PubMed
description INTRODUCTION: Both prevalence and clinical features of the various movement disorders in adults with primary mitochondrial diseases are unknown. METHODS: Based on the database of the “Nation-wide Italian Collaborative Network of Mitochondrial Diseases”, we reviewed the clinical, genetic, neuroimaging and neurophysiological data of adult patients with primary mitochondrial diseases (n = 764) where ataxia, myoclonus or other movement disorders were part of the clinical phenotype. RESULTS: Ataxia, myoclonus and movement disorders were present in 105/764 adults (13.7%), with the onset coinciding or preceding the diagnosis of the mitochondrial disease in 49/105 (46.7%). Ataxia and parkinsonism were the most represented, with an overall prevalence at last follow-up of 59.1% and 30.5%, respectively. Hyperkinetic movement disorders were reported in 15.3% at last follow-up, being the less common reported movement disorders. The pathogenic m.8344A > G and POLG variants were always associated with a movement disorder, while LHON variants and mtDNA single deletions were more commonly found in the subjects who did not present a movement disorder. The most common neuroimaging features were cortical and/or cerebellar atrophy, white matter hyperintensities, basal ganglia abnormalities and nigro-striatal degeneration. Almost 70% of patients with parkinsonism responded to dopaminergic therapy, mainly levodopa, and 50% with myoclonus were successfully treated with levetiracetam. CONCLUSION: Movement disorders, mainly ataxia and parkinsonism, are important findings in adult primary mitochondrial diseases. This study underlies the importance of looking for a mitochondrial etiology in the diagnostic flowchart of a movement disorder and may help direct genetic screening in daily practice. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00415-021-10697-1.
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spelling pubmed-88570852022-02-23 Adult-onset mitochondrial movement disorders: a national picture from the Italian Network Montano, V. Orsucci, D. Carelli, V. La Morgia, C. Valentino, M. L. Lamperti, C. Marchet, S. Musumeci, O. Toscano, A. Primiano, G. Santorelli, F. M. Ticci, C. Filosto, M. Rubegni, A. Mongini, T. Tonin, P. Servidei, S. Ceravolo, R. Siciliano, G. Mancuso, Michelangelo J Neurol Original Communication INTRODUCTION: Both prevalence and clinical features of the various movement disorders in adults with primary mitochondrial diseases are unknown. METHODS: Based on the database of the “Nation-wide Italian Collaborative Network of Mitochondrial Diseases”, we reviewed the clinical, genetic, neuroimaging and neurophysiological data of adult patients with primary mitochondrial diseases (n = 764) where ataxia, myoclonus or other movement disorders were part of the clinical phenotype. RESULTS: Ataxia, myoclonus and movement disorders were present in 105/764 adults (13.7%), with the onset coinciding or preceding the diagnosis of the mitochondrial disease in 49/105 (46.7%). Ataxia and parkinsonism were the most represented, with an overall prevalence at last follow-up of 59.1% and 30.5%, respectively. Hyperkinetic movement disorders were reported in 15.3% at last follow-up, being the less common reported movement disorders. The pathogenic m.8344A > G and POLG variants were always associated with a movement disorder, while LHON variants and mtDNA single deletions were more commonly found in the subjects who did not present a movement disorder. The most common neuroimaging features were cortical and/or cerebellar atrophy, white matter hyperintensities, basal ganglia abnormalities and nigro-striatal degeneration. Almost 70% of patients with parkinsonism responded to dopaminergic therapy, mainly levodopa, and 50% with myoclonus were successfully treated with levetiracetam. CONCLUSION: Movement disorders, mainly ataxia and parkinsonism, are important findings in adult primary mitochondrial diseases. This study underlies the importance of looking for a mitochondrial etiology in the diagnostic flowchart of a movement disorder and may help direct genetic screening in daily practice. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00415-021-10697-1. Springer Berlin Heidelberg 2021-07-14 2022 /pmc/articles/PMC8857085/ /pubmed/34259909 http://dx.doi.org/10.1007/s00415-021-10697-1 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/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/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Original Communication
Montano, V.
Orsucci, D.
Carelli, V.
La Morgia, C.
Valentino, M. L.
Lamperti, C.
Marchet, S.
Musumeci, O.
Toscano, A.
Primiano, G.
Santorelli, F. M.
Ticci, C.
Filosto, M.
Rubegni, A.
Mongini, T.
Tonin, P.
Servidei, S.
Ceravolo, R.
Siciliano, G.
Mancuso, Michelangelo
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network
title Adult-onset mitochondrial movement disorders: a national picture from the Italian Network
title_full Adult-onset mitochondrial movement disorders: a national picture from the Italian Network
title_fullStr Adult-onset mitochondrial movement disorders: a national picture from the Italian Network
title_full_unstemmed Adult-onset mitochondrial movement disorders: a national picture from the Italian Network
title_short Adult-onset mitochondrial movement disorders: a national picture from the Italian Network
title_sort adult-onset mitochondrial movement disorders: a national picture from the italian network
topic Original Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8857085/
https://www.ncbi.nlm.nih.gov/pubmed/34259909
http://dx.doi.org/10.1007/s00415-021-10697-1
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