新疆地区脊髓小脑共济失调2型患者临床表型相关分析

Analysis of clinical phenotypes in patients with spinocerebellar ataxia type 2 in Xinjiang, China

摘要:

目的 分析新疆地区脊髓小脑共济失调2型(SCA2)患者临床表型。方法 对根据Harding诊断标准考虑为脊髓小脑共济失调(SCAs)的患者进行神经系统查体, 通过国际协作共济失调等级评分量表(ICARS)、简易智力状态量表(MMSE)进行共济失调严重程度及认知功能的初步评估。用酚氯仿法提取基因组DNA, 采用PCR对患者进行SCAs亚型分型。对1例SCA2患者进行克隆后测序。结果 发现了9例SCA2患者。1例SCA2患者测序结果为CAG重复47次。该患者以震颤起病, 临床表现主要为帕金森综合征, 病程6年, ICARS评分10分。4名患者以步态失调起病, 病程在2～4年, ICARS评分在15～26分。结论 根据临床表现可初步诊断脊髓小脑共济失调, SCA2临床表现存在异质性, 故确定诊断依赖于基因诊断。以帕金森综合征表现为主的SCA2型患者共济失调症状发展较缓慢。

Abstract:

Objective To analyze the clinical phenotypes of spinocerebellar ataxia type 2 (SCA2) in Xinjiang, China.Methods Physical examinations focusing on evaluating the nervous system were performed on patients considered as having SCA following Harding diagnostic criteria. The severity of ataxia and cognitive function were preliminarily evaluated by International Cooperative Ataxia Rating Scale (ICARS) and Mini-Mental State Examination. Genomic DNA was extracted by use of phenol-chloroform method and SCA subtypes of the participants were classified by PCR. Sequencing after cloning was conducted on one patient with SCA2.Results Nine patients with SCA2 were identified. The result of sequencing of the patient with SCA2 revealed CAG repeated 47 times. The patient with tremor onset showed clinical manifestations of Parkinson syndrome with a disease course of 6 years and an ICARS score of 10. Four patients had gait ataxia onset with a disease course of 2-4 years and an ICARS score of 15-26.Conclusions SCA can be preliminarily diagnosed by clinical manifestations. Because of the heterogeneity of clinical manifestations, the diagnosis of SCA2 is confirmed by gene diagnosis. Ataxia symptom developed slowly in patients who are diagnosed with SCA2 and mainly manifested by Parkinson syndrome.