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Fatal familial insomnia (FFI), an inherited prion disease originally reported in 1986, has been described in more than 20 families worldwide. This study of two generations of the first Austrian FFI family presents detailed clinical data on five patients and extensive histopathological examinations and gene analyses on four patients.
Clinical and pathological features as a whole fell within the spectrum of FFI, which is characterized by the triad of insomnia, dysautonomia, and motor signs, associated with preferential thalamic atrophy. However, weight loss occurred either at onset or early in the disease course, and only four patients were reported to have insomnia and/or dysautonomia. Onset age in two patients (20 and 25 years) was more than…