Objective To analyze the characteristics and possible influencing factors of cognitive impairment in patients with CSF1R 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 CSF1R gene mutations were collected to analyze the phenotypic characteristics of CRD patients with different 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 decline.
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