脊髓小脑性共济失调 27B 型是否类似小脑多系统萎缩？
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
机构信息
Neurology Department, Strasbourg University Hospital, Strasbourg, France.
Strasbourg Federation of Translational Medicine, Strasbourg University, Strasbourg, France.
出版信息
J Neurol. 2024 Apr;271(4):2078-2085. doi: 10.1007/s00415-024-12182-x. Epub 2024 Jan 23.
BACKGROUND
Whether spinocerebellar ataxia 27B (SCA27B) may present as a cerebellar multiple system atrophy (MSA-C) mimic remains undetermined.
OBJECTIVES
To assess the prevalence of FGF14 (GAA) expansions in patients with MSA-C, to compare SCA27B and MSA-C clinical presentation and natural history.
METHODS
FGF14 expansion screening combined with longitudinal deep-phenotyping in a prospective cohort of 195 patients with sporadic late-onset cerebellar ataxia.
RESULTS
After a mean disease duration of 6.4 years, 111 patients were not meeting criteria for MSA-C while 24 and 60 patients had a final diagnosis of possible and probable MSA-C, respectively. 16 patients carried an FGF14 (GAA) expansion in the group not meeting MSA-C criteria (14.4%), 3 patients in the possible MSA-C group (12.5%), but none among probable MSA-C cases. SCA27B patients were evolving more slowly than probable MSA-C patients.
CONCLUSIONS
FGF14 (GAA) expansion may account for MSA look-alike cases and should be screened among slow progressors.
背景
脊髓小脑共济失调 27B（SCA27B）是否可能表现为小脑多系统萎缩（MSA-C）的模拟仍然不确定。
目的
评估 MSA-C 患者中 FGF14（GAA）扩展的患病率，比较 SCA27B 和 MSA-C 的临床表现和自然病史。
方法
在一项前瞻性队列研究中，对 195 名散发性晚发性小脑共济失调患者进行 FGF14 扩展筛查，并进行纵向深度表型分析。
结果
在平均疾病持续时间为 6.4 年后，111 名患者不符合 MSA-C 标准，而 24 名和 60 名患者分别被诊断为可能和可能的 MSA-C。在不符合 MSA-C 标准的组中，有 16 名患者携带 FGF14（GAA）扩展（14.4%），可能 MSA-C 组中有 3 名（12.5%），但可能 MSA-C 病例中均无。SCA27B 患者的病情发展比可能的 MSA-C 患者更缓慢。
结论
FGF14（GAA）扩展可能是 MSA 类病例的原因，应在病情进展缓慢的患者中进行筛查。
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