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Case report: Episodic ataxia without ataxia?

Hereditary myopathies represent a clinically and genetically heterogeneous group of neuromuscular disorders, characterized by highly variable clinical presentations and frequently overlapping phenotypes with other neuromuscular disorders, likely influenced by genetic and environmental modifiers. Gen...

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Autores principales: Gaudio, Andrea, Gotta, Fabio, Ponti, Clarissa, Sanguineri, Francesca, Trevisan, Lucia, Geroldi, Alessandro, Patrone, Serena, Gemelli, Chiara, Cabona, Corrado, Astrea, Guja, Fiorillo, Chiara, Gustincich, Stefano, Grandis, Marina, Mandich, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10640972/
https://www.ncbi.nlm.nih.gov/pubmed/37965175
http://dx.doi.org/10.3389/fneur.2023.1224241
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author Gaudio, Andrea
Gotta, Fabio
Ponti, Clarissa
Sanguineri, Francesca
Trevisan, Lucia
Geroldi, Alessandro
Patrone, Serena
Gemelli, Chiara
Cabona, Corrado
Astrea, Guja
Fiorillo, Chiara
Gustincich, Stefano
Grandis, Marina
Mandich, Paola
author_facet Gaudio, Andrea
Gotta, Fabio
Ponti, Clarissa
Sanguineri, Francesca
Trevisan, Lucia
Geroldi, Alessandro
Patrone, Serena
Gemelli, Chiara
Cabona, Corrado
Astrea, Guja
Fiorillo, Chiara
Gustincich, Stefano
Grandis, Marina
Mandich, Paola
author_sort Gaudio, Andrea
collection PubMed
description Hereditary myopathies represent a clinically and genetically heterogeneous group of neuromuscular disorders, characterized by highly variable clinical presentations and frequently overlapping phenotypes with other neuromuscular disorders, likely influenced by genetic and environmental modifiers. Genetic testing is often challenging due to ambiguous clinical diagnosis. Here, we present the case of a family with clinical and Electromyography (EMG) features resembling a myotonia-like disorder in which Whole Exome Sequencing (WES) analysis revealed the co-segregation of two rare missense variants in UBR4 and HSPG2, genes previously associated with episodic ataxia 8 (EA8). A review of the literature highlighted a striking overlap between the clinical and the molecular features of our family and the previously described episodic ataxias (EAs), which raises concerns about the genotype–phenotype correlation, clinical variability, and the confounding overlap in these groups of disorders. This emphasizes the importance of thoroughly framing the patient's phenotype. The more clear-cut the diagnosis, the easier the identification of a genetic determinant, and the better the prognosis and the treatment of patients.
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spelling pubmed-106409722023-11-14 Case report: Episodic ataxia without ataxia? Gaudio, Andrea Gotta, Fabio Ponti, Clarissa Sanguineri, Francesca Trevisan, Lucia Geroldi, Alessandro Patrone, Serena Gemelli, Chiara Cabona, Corrado Astrea, Guja Fiorillo, Chiara Gustincich, Stefano Grandis, Marina Mandich, Paola Front Neurol Neurology Hereditary myopathies represent a clinically and genetically heterogeneous group of neuromuscular disorders, characterized by highly variable clinical presentations and frequently overlapping phenotypes with other neuromuscular disorders, likely influenced by genetic and environmental modifiers. Genetic testing is often challenging due to ambiguous clinical diagnosis. Here, we present the case of a family with clinical and Electromyography (EMG) features resembling a myotonia-like disorder in which Whole Exome Sequencing (WES) analysis revealed the co-segregation of two rare missense variants in UBR4 and HSPG2, genes previously associated with episodic ataxia 8 (EA8). A review of the literature highlighted a striking overlap between the clinical and the molecular features of our family and the previously described episodic ataxias (EAs), which raises concerns about the genotype–phenotype correlation, clinical variability, and the confounding overlap in these groups of disorders. This emphasizes the importance of thoroughly framing the patient's phenotype. The more clear-cut the diagnosis, the easier the identification of a genetic determinant, and the better the prognosis and the treatment of patients. Frontiers Media S.A. 2023-10-26 /pmc/articles/PMC10640972/ /pubmed/37965175 http://dx.doi.org/10.3389/fneur.2023.1224241 Text en Copyright © 2023 Gaudio, Gotta, Ponti, Sanguineri, Trevisan, Geroldi, Patrone, Gemelli, Cabona, Astrea, Fiorillo, Gustincich, Grandis and Mandich. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Gaudio, Andrea
Gotta, Fabio
Ponti, Clarissa
Sanguineri, Francesca
Trevisan, Lucia
Geroldi, Alessandro
Patrone, Serena
Gemelli, Chiara
Cabona, Corrado
Astrea, Guja
Fiorillo, Chiara
Gustincich, Stefano
Grandis, Marina
Mandich, Paola
Case report: Episodic ataxia without ataxia?
title Case report: Episodic ataxia without ataxia?
title_full Case report: Episodic ataxia without ataxia?
title_fullStr Case report: Episodic ataxia without ataxia?
title_full_unstemmed Case report: Episodic ataxia without ataxia?
title_short Case report: Episodic ataxia without ataxia?
title_sort case report: episodic ataxia without ataxia?
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10640972/
https://www.ncbi.nlm.nih.gov/pubmed/37965175
http://dx.doi.org/10.3389/fneur.2023.1224241
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