小脑上脚受累与GAA相关性共济失调
Involvement of the Superior Cerebellar Peduncles in GAA- Ataxia.
作者信息
Chen Shihan, Ashton Catherine, Sakalla Rawan, Clement Guillemette, Planel Sophie, Bonnet Céline, Lamont Phillipa J, Kulanthaivelu Karthik, Nalini Atchayaram, Houlden Henry, Duquette Antoine, Dicaire Marie-Josée, Iruzubieta Agudo Pablo, Ruiz-Martinez Javier, Marco De Lucas Enrique, Sutil Berjon Rodrigo, Infante Ceberio Jon, Indelicato Elisabetta, Boesch Sylvia M, Synofzik Matthis, Bender Benjamin, Danzi Matt C, Zuchner Stephan, Pellerin David, Brais Bernard, Renaud Mathilde, La Piana Roberta
机构信息
Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Quebec, Canada.
Department of Neurology, Royal Perth Hospital, Perth, Western Australia.
出版信息
Neurol Genet. 2025 Feb 21;11(2):e200253. doi: 10.1212/NXG.0000000000200253. eCollection 2025 Apr.
OBJECTIVES
GAA- ataxia (SCA27B) is a recently reported late-onset ataxia caused by a GAA repeat expansion in intron 1 of the gene. After the clinical observation of superior cerebellar peduncle (SCP) involvement in some affected patients, we sought to verify the prevalence of this finding in our cohort and 4 additional independent cohorts of patients with SCA27B.
METHODS
We performed a retrospective review of the brain MRI scans of a total of 87 patients (median age at MRI 69 years; range 28-88 years) from different independent cohorts to assess the presence of SCP involvement, defined as abnormally high T2 signal along the SCP tract.
RESULTS
We observed SCP involvement in 52 patients (52/87; 59.8%) from all the cohorts combined. The finding was replicated at rates ranging from 50% to 62.8% in the cohorts taken separately.
DISCUSSION
SCP involvement in SCA27B is frequent. Its detection may facilitate the diagnostic process of patients with SCA27B.
目的
GAA重复序列相关共济失调（SCA27B）是一种最近报道的迟发性共济失调，由该基因第1内含子中的GAA重复序列扩增引起。在临床观察到部分受累患者存在上小脑脚（SCP）受累后，我们试图在我们的队列以及另外4个独立的SCA27B患者队列中验证这一发现的普遍性。
方法
我们对来自不同独立队列的总共87例患者（MRI检查时的中位年龄为69岁；范围为28 - 88岁）的脑部MRI扫描进行了回顾性分析，以评估SCP受累情况，定义为沿SCP束的T2信号异常增高。
结果
我们观察到所有队列合并后的87例患者中有52例（52/87；59.8%）存在SCP受累。在单独分析的各个队列中，这一发现的重复率在50%至62.8%之间。
讨论
SCA27B患者中SCP受累很常见。其检测可能有助于SCA27B患者的诊断过程。
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