The new research results of Wu Yong's team on familial fatal insomnia, deputy director of the Department of Neurology, Xuanwu Hospital, Capital Medical University, were recently published in the Journal of Neurology, Neurosurgery and Psychiatry, an international classic journal of neurology and psychiatry. The study summarizes the clinical features of familial fatal insomnia disease worldwide and reveals the association of clinical phenotype with regional and locus polymorphisms.
Familial fatal insomnia is a rare refractory hereditary prion disease characterized clinically by organic sleep symptoms, rapidly progressive dementia, and sympathetic symptoms. The disease is mainly caused by mutations at 178 sites of prion protein genes, with 129-bit M-type amino acid polymorphisms, and most patients are autosomal dominant. Due to the strong clinical heterogeneity of familial fatal insomnia, its early identification is very difficult.
As of September 2020, hundreds of cases of the disease have been reported worldwide, mainly in Europe and Asia. In recent years, the number of patients with familial fatal insomnia reported by Chinese doctors has increased year by year. In the early clinical and scientific research work, the team of Xuanwu Hospital found that there may be regional differences in the clinical phenotype of familial fatal insomnia, and there may be differences in clinical manifestations and classification between Asian patients and non-Asian patients. In addition, a small sample of studies have found that the 129-bit polymorphism of the prion protein gene may have a potential effect on the clinical phenotype of patients with familial fatal insomnia. It is speculated that there may be differences in the phenotype of patients with familial fatal insomnia in different regions, and this difference may be related to the gene 129-bit polymorphism.
By integrating the clinical data of familial fatal insomnia patients collected by the team in the past 10 years and the patient data reported worldwide, and strictly screening the included data, the study formed a reliable clinical database of patients with familial fatal insomnia from worldwide sources. Based on evidence-based medical evidence, this study summarizes the main clinical and genetic characteristics of the disease and their frequency of occurrence, revealing phenotypic differences caused by regional and genotype changes. The main findings of the study once again emphasize the prominent phenotypic heterogeneity of familial fatal insomnia, which promotes the early recognition of such rare diseases and has high clinical application value.