Clinical, histopathological and genetic studies in a case of fatal familial insomnia
10.3760/cma.j.issn.1006-7876.2012.08.006
- VernacularTitle:致死性家族性失眠症一例的临床、病理及基因特征
- Author:
Bin PENG
;
Cheng Lü
;
Zhenzhen YANG
;
Xu WU
;
Xinshan CHEN
;
Zuneng LU
- Publication Type:Journal Article
- Keywords:
Insomnia,fatal familial;
Death,sudden;
Prions;
Mutation
- From:
Chinese Journal of Neurology
2012;45(8):570-574
- CountryChina
- Language:Chinese
-
Abstract:
ObjectiveTo explore clinical,histopathological and genetic features in a case of fatal familial insomnia (FFI) and related literatures were reviewed. Methods The clinical features in one patient with FFI were analyzed,and the dead patient was examined at autopsy and histopathological studies were performed on the brain tissues; and the blood samples from the patient and some of her familial members were collected for the sequencing of prion protein gene (PRNP). Results 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 multiple neuronal loss and gliosis of brain tissues from the proband,predominated in thalamus; and analysis of PRNP revealed gene D178N mutation,and linkage with 129 methionine (Met) allele in the proband and a relative.ConclusionsFFI 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.
