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

OBJECTIVETo report and study a case of sporadic family fatal insomnia (SFFI) on its.

METHODSInvestigate clinical characteristics and family disease history of a suspect FFI patient. His clinical characteristic was analyzed, he and his 14 family members genomic DNA was extracted by standard techniques from their and blood detected with polymerase chain reaction (PCR) method and DNA sequencing to find out his prion protein (PrP) gene mutation. The patient's CSF was detected with Western-Blot method for 14-3-3 brain protein.

RESULTSThe patient was diagnosed as an sporadic FFI by his developed sleep disturbance and changes in sleep-awake rhythm, motor abnormalities, mental disorder, dementia, autonomic dysfunction; his family history; his 14-3-3 brain protein-positive (CSF) and analysis results of his PrP gene (codon point mutation D178N and methionine homozygosity at position 129M/M). Suggesting that in the future to identify CJD and FFI patients, screening should focus on clinical symptoms and laboratory results. The PrP gene of 14 family members did not appear Mutation, and there is no person suffering from the same disease.

CONCLUSIONSThe case was diagnosed as a sporadic familial fatal insomnia. Analysis of suspicious patients' genomic DNA for PrP gene mutation might be very important for FFI diagnosis because there exist many difficulties in clinical laboratory evaluation. This patient might be the first SFFI patient reported in China and the case finding might have momentousness in clinical and basical study.

14-3-3 Proteins ; genetics ; Humans ; Insomnia, Fatal Familial ; genetics ; Male ; Middle Aged ; Mutation ; PrPSc Proteins ; genetics

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