摘要
目的分析CSF1R相关疾病(CRD)患者认知障碍的特征及其可能的影响因素,为CRD的诊断、评估、治疗和预后提供依据。方法回顾性分析2018年4月1日至2024年5月1日在上海市第六人民医院确诊的CRD患者,收集性别、发病年龄、家族史、蒙特利尔认知评估量表(MoCA)评分、简易精神状态检查量表(MMSE)评分、影像学特征、CSF1R基因突变等信息,分析不同认知水平CRD患者的表型特征,采用多元线性回归寻找与CRD认知功能障碍可能有关的因素。结果共收集40例患者,其中男22例,女18例,42.5%(17/40)的患者存在家族史,发病年龄为(39.6±7.9)岁,总体病程中位数为1.25(1.00,2.00)年,MMSE评分为(17.90±7.89)分,MoCA评分为(15.16±7.76)分,所有患者均存在额叶白质病变,所有患者均无小脑受累。患者的认知功能损害为多维度损害,主要以定向力障碍、结构障碍、注意力和计算力障碍、视空间与执行功能障碍、延迟回忆障碍及语言功能障碍最为突出。发病年龄≥40岁的患者抽象能力和结构能力更差(P=0.012,0.038)。此外,存在阳性家族史的患者即时记忆力及命名能力更差,出现脑室扩大的患者在MMSE总分、MoCA总分、定向力、延迟回忆能力及命名能力得分均更差。结论CRD患者普遍存在显著的多认知领域损害,主要以定向力障碍、结构障碍、注意力和计算力障碍等为主。发病年龄早、病程长、伴阳性家族史和脑室扩大的患者更易出现部分认知域功能的下降。
Objective To analyze the characteristics and possible influencing factors of cognitive impairment in patients with CSFIR related diseases(CRD),and provide a basis for the diagnosis,evaluation,treatment,and prognosis of CRD.Methods A retrospective analysis was conducted on CRD patients diagnosed at the Shanghai Sixth People's Hospital from April 1,2018 to May 1,2024.Information such as gender,age of onset,family history,Montreal Cognitive Assessment(MoCA)score,Mini Mental State Examination(MMSE)score,imaging features,and CSFIR gene mutations were collected to analyze the phenotypic characteristics of CRD patients with dfferent cognitive levels.Multiple linear regression was used to identify factors that may be related to CRD cognitive dysfunction.Results A total of 40 patients were collected,including 22 males and 18 females.42.5%(17/40)of the patients had a family history,with an onset age of(39.6±7.9)years and an overall median disease duration of 1.25(1.00,2.00)years.The MMSE score was(17.90±7.89)points and the MoCA score was(15.16±7.76)points.All patients had frontal leukoencephalopathies and no cerebellar involvement.The cognitive impairment of patients was multidimensional,mainly characterized by orientation disorders,structural barriers attention and calculation disorders,visual spatial and executive dysfunction,delayed recall disorders,and language dysfunction.Patients with onset age≥40 years old had poorer abstract ability.In addition,patients with a positive family history had poorer immediate memory and naming abilities,while those with ventricular dilation had poorer scores in MMSE total score,MoCA total score,orientation,delayed recall ability,and naming ability.Conclusions CRD patients generally exhibit significant impairment in multiple cognitive domains,mainly characterized by deficits in orientation,structure attention,and computational abilities.Patients with early onset,long course of illness,positive family history,and ventricular enlargement are more likely to experience partial cognitive
作者
季杜欣
邬静莹
程馨
王恒杰
曹立
Ji Duxin;Wu Jingying;Cheng Xin;Wang Hengjie;Cao Li(Department of Neurology,Suzhou Hospital of Anhui Medical University,Suzhou 234000,China;Department of Neurology,Shanghai Sixth People's Hospial Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 20030,China;Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform,Shanghai 200030,China)
出处
《中国医师杂志》
CAS
2024年第7期969-973,979,共6页
Journal of Chinese Physician
基金
国家自然科学基金(82371255,82071258)
上海市卫生领军人才(2022LJ011)
上海市优秀学术带头人(23XD1402500)
上海市“科技创新行动计划”(23DZ2291500)
医企融合创新成果转化专项(SHDC2022CRD037)。
关键词
神经变性疾病
CSF1R相关疾病
认知障碍
Neurodegenerative diseases
CSF1R-related disorder
Cognition disorders
