Author： Almer G Hainfellner JA Brücke T Jellinger K Kleinert R Bayer G Windl O Kretzschmar HA Hill A Sidle K Collinge J Budka H
Publisher： Oxford University Press
ISSN： 1460-2156
Source： Brain, Vol.122, Iss.1, 1999-01, pp. : 5-16
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Abstract
We present clinical, pathological and molecular features of the first Austrian family with fatal familial insomnia. Detailed clinical data are available in five patients and autopsy in four patients. Age at onset of disease ranged between 20 and 60 years, and disease duration between 8 and 2 months. Severe loss of weight was an early symptom in all five patients. Four patients developed insomnia and/or autonomic dysfunction, and all five patients developed motor abnormalities. Analysis of the prion protein (PrP) gene revealed the codon 178 point mutation and methionine homozygosity at position 129. In all brains, neuropathology showed widespread cortical astrogliosis, widespread brainstem nuclei and tract degeneration, and olivary 'pseudohypertrophy' with vacuolated neurons, in addition to neuropathological features described previously, such as thalamic and olivary degeneration. Western blotting of one brain and immunocytochemistry in four brains revealed quantitative and regional dissociation between PrPres (the protease resistant form of PrP) deposition and histopathology. In the cerebellar cortex of one patient, PrPres deposits were prominent in the molecular layer and displayed a peculiar patchy and strip-like pattern with perpendicular orientation to the surface. In another patient, a single vacuolated neuron in the inferior olivary nuclei contained prominent intravacuolar granular PrPres deposits, resembling changes of brainstem neurons in bovine spongiform encephalopathy. Key words: fatal familial insomnia; prion diseases; prion protein; transmissible spongiform encephalopathies
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