Consensus ; Humans ; Insomnia, Fatal Familial ; diagnosis ; Mutation ; Pedigree

OBJECTIVEFatal familial insomnia (FFI) is an autosomal dominant prion disease characterized clinically by inattention, sleep loss, dysautonomia, and motor signs. This study is aimed to investigate clinical and familial characteristics of ten Chinese Patients with FFI.

METHODSWe identified ten FFI cases from the surveillance network for Creutafeldt-Jakob disease (CJD) in China. Final diagnosis of FFI cases was made in accordance with the WHO criteria for CJD. The main clinical features and family histories of these ten FFI cases were analyzed.

RESULTSThe median age of ten cases at onset was 38 years (from 19 to 55). The foremost symptoms seemed to be various, including sleep disturbances, vision disorder, dizziness and anorexia. Sleep disturbances appeared in all cases and lasted in the whole clinical courses. Progressive sympathetic symptoms, memory loss, movement disturbances, myoclonus and hypertension were also frequently observed. The median duration of the disease was 9.5 months. EEG and MRI did not figure out special abnormality. 14-3-3 protein in CSF was positive in five out of eight tested patients. Clear family histories were identified in 8 patients.

CONCLUSIONThe data from our study confirm that the Chinese FFI cases have similar clinical characteristics as that of the Caucasian cases. Compared with other genetic CJD associated mutations, the genetic frequencies of D178N in PRNP are apparently high among the Chinese cases.

Adult ; Asian Continental Ancestry Group ; Female ; Humans ; Insomnia, Fatal Familial ; pathology ; physiopathology ; Male ; Middle Aged ; Young Adult

Aged ; Asian Continental Ancestry Group ; Creutzfeldt-Jakob Syndrome ; cerebrospinal fluid ; genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Insomnia, Fatal Familial ; cerebrospinal fluid ; genetics ; Male ; Middle Aged ; Mutation ; genetics

Dementias can be calssified into cortical, subcortical, cortical-subcortical and multifocal ones based on the major pathological distribution within the brain. The literatures of recent knowledge about clinical features of other dementias than Alzheimer's and vascular ones, which were most frequently experienced by many clinicians were reviewed. That is, cortical dementias such as Pick's disease, frontal lobe type dementia and non-Alzheimer's type lobar atrophy including fronto-temporal dementia, progressive dysphasia, fronto-temporal dementia with motor neuron disease, and alcohol-related dementia were reviewed. Subcortical dementias such as dementias accompanying Parkinson's disease, Huntington's disease and progressive supranuclear palsy, and cortical-subcortical dementias such as Lewy body dementiaq and cortical-basal degeneration were also reviewed. As multifocal dementias, prion dementias including KUru, Creutzfeldt-Jakob disease, fatal familial insomnia and Gerstmann-Strussler-Sheinker syndrone, and AIDS dementia were also reviewed.
Aphasia ; Atrophy ; Brain ; Creutzfeldt-Jakob Syndrome ; Dementia* ; Frontal Lobe ; Frontotemporal Dementia ; Huntington Disease ; Insomnia, Fatal Familial ; Kuru ; Lewy Bodies ; Lewy Body Disease ; Motor Neuron Disease ; Parkinson Disease ; Pick Disease of the Brain ; Supranuclear Palsy, Progressive