Cargando…

Lipid Dyshomeostasis and Inherited Cerebellar Ataxia

Cerebellar ataxia is a form of ataxia that originates from dysfunction of the cerebellum, but may involve additional neurological tissues. Its clinical symptoms are mainly characterized by the absence of voluntary muscle coordination and loss of control of movement with varying manifestations due to...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhao, Jin, Zhang, Huan, Fan, Xueyu, Yu, Xue, Huai, Jisen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9148275/
https://www.ncbi.nlm.nih.gov/pubmed/35420383
http://dx.doi.org/10.1007/s12035-022-02826-2
_version_ 1784717010183127040
author Zhao, Jin
Zhang, Huan
Fan, Xueyu
Yu, Xue
Huai, Jisen
author_facet Zhao, Jin
Zhang, Huan
Fan, Xueyu
Yu, Xue
Huai, Jisen
author_sort Zhao, Jin
collection PubMed
description Cerebellar ataxia is a form of ataxia that originates from dysfunction of the cerebellum, but may involve additional neurological tissues. Its clinical symptoms are mainly characterized by the absence of voluntary muscle coordination and loss of control of movement with varying manifestations due to differences in severity, in the site of cerebellar damage and in the involvement of extracerebellar tissues. Cerebellar ataxia may be sporadic, acquired, and hereditary. Hereditary ataxia accounts for the majority of cases. Hereditary ataxia has been tentatively divided into several subtypes by scientists in the field, and nearly all of them remain incurable. This is mainly because the detailed mechanisms of these cerebellar disorders are incompletely understood. To precisely diagnose and treat these diseases, studies on their molecular mechanisms have been conducted extensively in the past. Accumulating evidence has demonstrated that some common pathogenic mechanisms exist within each subtype of inherited ataxia. However, no reports have indicated whether there is a common mechanism among the different subtypes of inherited cerebellar ataxia. In this review, we summarize the available references and databases on neurological disorders characterized by cerebellar ataxia and show that a subset of genes involved in lipid homeostasis form a new group that may cause ataxic disorders through a common mechanism. This common signaling pathway can provide a valuable reference for future diagnosis and treatment of ataxic disorders. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12035-022-02826-2.
format Online
Article
Text
id pubmed-9148275
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Springer US
record_format MEDLINE/PubMed
spelling pubmed-91482752022-05-30 Lipid Dyshomeostasis and Inherited Cerebellar Ataxia Zhao, Jin Zhang, Huan Fan, Xueyu Yu, Xue Huai, Jisen Mol Neurobiol Article Cerebellar ataxia is a form of ataxia that originates from dysfunction of the cerebellum, but may involve additional neurological tissues. Its clinical symptoms are mainly characterized by the absence of voluntary muscle coordination and loss of control of movement with varying manifestations due to differences in severity, in the site of cerebellar damage and in the involvement of extracerebellar tissues. Cerebellar ataxia may be sporadic, acquired, and hereditary. Hereditary ataxia accounts for the majority of cases. Hereditary ataxia has been tentatively divided into several subtypes by scientists in the field, and nearly all of them remain incurable. This is mainly because the detailed mechanisms of these cerebellar disorders are incompletely understood. To precisely diagnose and treat these diseases, studies on their molecular mechanisms have been conducted extensively in the past. Accumulating evidence has demonstrated that some common pathogenic mechanisms exist within each subtype of inherited ataxia. However, no reports have indicated whether there is a common mechanism among the different subtypes of inherited cerebellar ataxia. In this review, we summarize the available references and databases on neurological disorders characterized by cerebellar ataxia and show that a subset of genes involved in lipid homeostasis form a new group that may cause ataxic disorders through a common mechanism. This common signaling pathway can provide a valuable reference for future diagnosis and treatment of ataxic disorders. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12035-022-02826-2. Springer US 2022-04-14 2022 /pmc/articles/PMC9148275/ /pubmed/35420383 http://dx.doi.org/10.1007/s12035-022-02826-2 Text en © The Author(s) 2022 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 Article
Zhao, Jin
Zhang, Huan
Fan, Xueyu
Yu, Xue
Huai, Jisen
Lipid Dyshomeostasis and Inherited Cerebellar Ataxia
title Lipid Dyshomeostasis and Inherited Cerebellar Ataxia
title_full Lipid Dyshomeostasis and Inherited Cerebellar Ataxia
title_fullStr Lipid Dyshomeostasis and Inherited Cerebellar Ataxia
title_full_unstemmed Lipid Dyshomeostasis and Inherited Cerebellar Ataxia
title_short Lipid Dyshomeostasis and Inherited Cerebellar Ataxia
title_sort lipid dyshomeostasis and inherited cerebellar ataxia
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9148275/
https://www.ncbi.nlm.nih.gov/pubmed/35420383
http://dx.doi.org/10.1007/s12035-022-02826-2
work_keys_str_mv AT zhaojin lipiddyshomeostasisandinheritedcerebellarataxia
AT zhanghuan lipiddyshomeostasisandinheritedcerebellarataxia
AT fanxueyu lipiddyshomeostasisandinheritedcerebellarataxia
AT yuxue lipiddyshomeostasisandinheritedcerebellarataxia
AT huaijisen lipiddyshomeostasisandinheritedcerebellarataxia