A case of tauopathy dementia and analysis of her pedigree
Objective To report a case of taupathy-related dementia and her family members in order to improve the understanding of the disease.Methods Medical history,clinical manifestations,neuropsychological evaluation,the imaging characteristics including head magnetic resonance imaging(MRI),18 F-deoxyglucose(FDG)PET/CT,18F-florzolotautau PET/CT and 18F-AV45 PET/CT of the patient and her family members with similar clinical manifestations were examined.Results The proband(Ⅲ 8)was a middle-aged female with an insidious onset of memory loss that had been progressively worsening for nearly 8 years,with behavioural changes such as apathy and bulimia.Neuropsychological assessment suggested MMSE 27/30;MoCA 17/30.MRI showed bilateral temporal pole volume reduction,bilateral temporal lobe and hippocampal atrophy,and widening of the lateral fissure.18F-FDG PET/CT showed significant metabolic reduction in the temporal cortex(medial temporal lobe predominantly)bilaterally.18F-florzolotau PET/CT showed tau protein deposition in the temporal lobe cortex(medial temporal lobe predominantly),the basal ganglia,the brainstem,and the cerebellum.18F-AV45 PET/CT did not show beta-amyloid deposition.In addition to the proband,there were 6 members of the maternal family with similar clinical manifestations,and 1 member(Ⅳ 1)with abnormal PET/CT manifestations,but without clinical manifestations.Among the 6 members with similar clinical manifestations,4 were male,2 were female,and 4 were deceased.All of whom started with near-memory loss and gradually developed personality and behavioral changes,the age at which near-memory loss appeared ranged from 47 to 55 years,and the duration of the disease in the deceased patients ranged from 16 to 32 years.The neuropsychological assessment results of the two members(Ⅲ 4 and m 14)who were still alive with similar clinical manifestations were MMSE score 27,MoCA score(23+1),and MMSE score 28,MoCA score 25,respectively;the cranial MRI showed decreased bilateral temporal pole volume and bilateral temporal lobe atrophy in Ⅲ 4;and no significant abnormality was seen in Ⅲ 14.In Ⅲ 4,Ⅲ 14 and Ⅳ1,18F-FDG PET/CT were all suggestive of bilateral medial temporal lobe hypometabolism,18 F-florzolotau PET/CT were all suggestive of tau protein deposition in the medial temporal lobe and basal ganglia,and no Aβ deposition was seen in 18F-AV45 PET/CT.Conclusions The heterogeneity of the clinical phenotype of tauopathies is obvious.The patient in this case and her family members with similar manifestations have near-memory loss as an early manifestation,and the psycho-behavioural symptoms are not prominent,which may be a special manifestation of tauopathies,and molecular imaging is important for the diagnosis of tauopathies.
tauopathydementiafamilialmolecular imagingnear-memory loss
万方数据
维普
