Chinese abnormal compound heterozygote spinocerebellar ataxia type 8: a case report

Guo, Shuo; Zhong, Huiyu; Zhao, Bi; Yang, Dexin; Meng, Zhiyi; Ying, Binwu; Wang, Minjin

doi:10.1007/s10072-021-05769-z

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“…SCA8 is mainly associated with cerebellar ataxia and first appears between the ages of 18 and 65 years, with an average age of onset of 39 years (Hu et al, 2017 ), As SCA cases continue to accumulate, the symptom spectrum of SCA is expanding, from the classic manifestations of ataxia to Parkinson's, dementia, paroxysmal kinesigenic dyskinesia, epilepsy, cognitive impairment, and executive dysfunction (Torrens et al, 2008 ; Reetz et al, 2012 ; Swaminathan, 2019 ). Presently, we report the first family of SCA8 caused by ATXN8OS with spasticity paraplegia onset in early childhood in China (Wang et al, 2018 ; Guo et al, 2022 ). In the present case, both the proband and her brother were affected since childhood.…”

Section: Discussionmentioning

confidence: 99%

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

Chen

Liu

et al. 2023

Front. Hum. Neurosci.

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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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