Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations

This article reviews recent research on the clinical and molecular aspects of the disease.Recent FindingsNew clinical and biomarker tools have been implemented in order to assist in the diagnosis of the disease. In addition, the generation of mouse models, the availability of ‘omics’ data in brain tissue and the use of new seeding techniques shed light on the molecular events in FFI pathogenesis. Biochemical studies in human samples also reveal that neuropathological alterations in vulnerable brain regions underlie severe impairment in key cellular processes such as mitochondrial and protein synthesis machinery.SummaryAlthough the development of a therapy is still a major challenge, recent findings represent a step toward understanding of the clinical and molecular aspects of FFI.
Source: Current Neurology and Neuroscience Reports - Category: Neuroscience Source Type: research