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

作者全名："Chen, Shuling; Li, Siyu; Liu, Ying; She, Renyi; Jiang, Wei"

作者地址："[Chen, Shuling; Li, Siyu; Liu, Ying; She, Renyi; Jiang, Wei] Chongqing Med Univ, Childrens Hosp, Dept Rehabil, Chongqing, Peoples R China"

通信作者："Jiang, W (通讯作者)，Chongqing Med Univ, Childrens Hosp, Dept Rehabil, Chongqing, Peoples R China."

来源：FRONTIERS IN HUMAN NEUROSCIENCE

ESI学科分类：NEUROSCIENCE & BEHAVIOR

WOS号：WOS:001037321900001

JCR分区：Q2

影响因子：2.4

年份：2023

卷号：17

期号：　

开始页：　

结束页：　

文献类型：Review

关键词：spinocerebellar ataxia type 8; spastic paraplegia; cerebellar atrophy; antispasmodic rehabilitation; case report

摘要："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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