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Episodic Ataxias: Faux or Real?
The term Episodic Ataxias (EA) was originally used for a few autosomal dominant diseases, characterized by attacks of cerebellar dysfunction of variable duration and frequency, often accompanied by other ictal and interictal signs. The original group subsequently grew to include other very rare EAs,...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555854/ https://www.ncbi.nlm.nih.gov/pubmed/32899446 http://dx.doi.org/10.3390/ijms21186472 |
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author | Giunti, Paola Mantuano, Elide Frontali, Marina |
author_facet | Giunti, Paola Mantuano, Elide Frontali, Marina |
author_sort | Giunti, Paola |
collection | PubMed |
description | The term Episodic Ataxias (EA) was originally used for a few autosomal dominant diseases, characterized by attacks of cerebellar dysfunction of variable duration and frequency, often accompanied by other ictal and interictal signs. The original group subsequently grew to include other very rare EAs, frequently reported in single families, for some of which no responsible gene was found. The clinical spectrum of these diseases has been enormously amplified over time. In addition, episodes of ataxia have been described as phenotypic variants in the context of several different disorders. The whole group is somewhat confused, since a strong evidence linking the mutation to a given phenotype has not always been established. In this review we will collect and examine all instances of ataxia episodes reported so far, emphasizing those for which the pathophysiology and the clinical spectrum is best defined. |
format | Online Article Text |
id | pubmed-7555854 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-75558542020-10-19 Episodic Ataxias: Faux or Real? Giunti, Paola Mantuano, Elide Frontali, Marina Int J Mol Sci Review The term Episodic Ataxias (EA) was originally used for a few autosomal dominant diseases, characterized by attacks of cerebellar dysfunction of variable duration and frequency, often accompanied by other ictal and interictal signs. The original group subsequently grew to include other very rare EAs, frequently reported in single families, for some of which no responsible gene was found. The clinical spectrum of these diseases has been enormously amplified over time. In addition, episodes of ataxia have been described as phenotypic variants in the context of several different disorders. The whole group is somewhat confused, since a strong evidence linking the mutation to a given phenotype has not always been established. In this review we will collect and examine all instances of ataxia episodes reported so far, emphasizing those for which the pathophysiology and the clinical spectrum is best defined. MDPI 2020-09-05 /pmc/articles/PMC7555854/ /pubmed/32899446 http://dx.doi.org/10.3390/ijms21186472 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Giunti, Paola Mantuano, Elide Frontali, Marina Episodic Ataxias: Faux or Real? |
title | Episodic Ataxias: Faux or Real? |
title_full | Episodic Ataxias: Faux or Real? |
title_fullStr | Episodic Ataxias: Faux or Real? |
title_full_unstemmed | Episodic Ataxias: Faux or Real? |
title_short | Episodic Ataxias: Faux or Real? |
title_sort | episodic ataxias: faux or real? |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555854/ https://www.ncbi.nlm.nih.gov/pubmed/32899446 http://dx.doi.org/10.3390/ijms21186472 |
work_keys_str_mv | AT giuntipaola episodicataxiasfauxorreal AT mantuanoelide episodicataxiasfauxorreal AT frontalimarina episodicataxiasfauxorreal |