title: Clinical, histopathological and genetic studies in a case of fatal familial insomnia with review of the literature.
abstract: To explore clinical, histopathological and genetic features of a case with fatal familial insomnia (FFI) and review the related literatures. A middle-aged woman who complained of "insomnia for 9 months and psychosis for 3 months" was suspicious of FFI. The clinical features of the patient were analyzed, and the dead patient was examined by autopsy and the brain tissues were obtained for histopathological studies, and the blood samples from the patient and some of her familial members were collected for the sequencing of prion protein gene (PRNP). The main clinical features included intractable insomnia, psychiatric symptoms and abnormal night sleep behavior, unsteady gait, difficulty swallowing, sudden death, and positive family history. The pathological studies showed neuronal loss and gliosis of multiple brain tissues in the proband, predominated with thalamus; and analysis of PRNP revealed gene D178N mutation, and linkage with 129 methionine (Met) allele in the proband and a relative. FFI patients may manifest as sudden death, and may have prominent psychiatric symptoms; the corresponding gene mutation could occur in the asymptomatic carriers; the data of autopsy and brain tissue pathology is helpful for further understanding of this disease.
authors.affiliation: Department of Neurology, Renmin Hospital of Wuhan University Wuhan, Hubei, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Peng
authors.affiliation: Department of Neurology, Renmin Hospital of Wuhan University Wuhan, Hubei, China.
authors.forename: Shenqi
authors.initials: S
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Renmin Hospital of Wuhan University Wuhan, Hubei, China.
authors.forename: Hongjuan
authors.initials: H
authors.lastname: Dong
authors.affiliation: Department of Neurology, Renmin Hospital of Wuhan University Wuhan, Hubei, China.
authors.forename: Zuneng
authors.initials: Z
authors.lastname: Lu
mesh_terms: D000328:Adult; D017809:Fatal Outcome; D005260:Female; D005911:Gliosis / Q000235:genetics / Q000473:pathology*; D006801:Humans; D034062:Insomnia, Fatal Familial / Q000235:genetics / Q000473:pathology*; D009154:Mutation; D010375:Pedigree; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D013788:Thalamus / Q000473:pathology*
chemical_list: C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions
keywords: Fatal familial insomnia; PRNP; histopathology; prion disease; sudden unexpected natural death