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Spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in China: a case report and review of literature

The diagnosis and treatment of cerebellar atrophy remain challenging owing to its nonspecific symptoms and laboratory indicators. Three patients with spinocerebellar ataxia type 8 caused by ATXN8OS were found among the 16 people in the studied family. The clinical manifestations of the patients incl...

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Autores principales: Chen, Shuling, Li, Siyu, Liu, Ying, She, Renyi, Jiang, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10388100/
https://www.ncbi.nlm.nih.gov/pubmed/37529405
http://dx.doi.org/10.3389/fnhum.2023.1198309
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author Chen, Shuling
Li, Siyu
Liu, Ying
She, Renyi
Jiang, Wei
author_facet Chen, Shuling
Li, Siyu
Liu, Ying
She, Renyi
Jiang, Wei
author_sort Chen, Shuling
collection PubMed
description The diagnosis and treatment of cerebellar atrophy remain challenging owing to its nonspecific symptoms and laboratory indicators. Three patients with spinocerebellar ataxia type 8 caused by ATXN8OS were found among the 16 people in the studied family. The clinical manifestations of the patients included progressive spastic paraplegia of the lower extremities, mild ataxia, mild cognitive impairment, and cerebellar atrophy. After administering antispasmodic rehabilitation treatment, using oral drugs, botulinum toxin injection, baclofen pump, and other systems in our hospital, the patients' lower extremity spasticity was significantly relieved. To our knowledge, till date, this is the first domestic report of spinocerebellar ataxia type 8 affecting a family, caused by ATXN8OS with spasticity onset in early childhood. Manifestations of the disease included spastic dyskinesia (in early disease stages) and cerebellar atrophy. Through systematic rehabilitation, the daily life of patients with this movement disorder was improved. This case report adds to the literature on spinocerebellar ataxia type 8 by summarizing its features.
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spelling pubmed-103881002023-08-01 Spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in China: a case report and review of literature Chen, Shuling Li, Siyu Liu, Ying She, Renyi Jiang, Wei Front Hum Neurosci Human Neuroscience The diagnosis and treatment of cerebellar atrophy remain challenging owing to its nonspecific symptoms and laboratory indicators. Three patients with spinocerebellar ataxia type 8 caused by ATXN8OS were found among the 16 people in the studied family. The clinical manifestations of the patients included progressive spastic paraplegia of the lower extremities, mild ataxia, mild cognitive impairment, and cerebellar atrophy. After administering antispasmodic rehabilitation treatment, using oral drugs, botulinum toxin injection, baclofen pump, and other systems in our hospital, the patients' lower extremity spasticity was significantly relieved. To our knowledge, till date, this is the first domestic report of spinocerebellar ataxia type 8 affecting a family, caused by ATXN8OS with spasticity onset in early childhood. Manifestations of the disease included spastic dyskinesia (in early disease stages) and cerebellar atrophy. Through systematic rehabilitation, the daily life of patients with this movement disorder was improved. This case report adds to the literature on spinocerebellar ataxia type 8 by summarizing its features. Frontiers Media S.A. 2023-07-17 /pmc/articles/PMC10388100/ /pubmed/37529405 http://dx.doi.org/10.3389/fnhum.2023.1198309 Text en Copyright © 2023 Chen, Li, Liu, She and Jiang. 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 Human Neuroscience
Chen, Shuling
Li, Siyu
Liu, Ying
She, Renyi
Jiang, Wei
Spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in China: a case report and review of literature
title Spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in China: a case report and review of literature
title_full Spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in China: a case report and review of literature
title_fullStr Spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in China: a case report and review of literature
title_full_unstemmed Spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in China: a case report and review of literature
title_short Spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in China: a case report and review of literature
title_sort spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in china: a case report and review of literature
topic Human Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10388100/
https://www.ncbi.nlm.nih.gov/pubmed/37529405
http://dx.doi.org/10.3389/fnhum.2023.1198309
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