Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Almer, G; Hainfellner, JA; Brücke, T; Jellinger, K; Kleinert, R; Bayer, G; Windl, O; Kretzschmar, HA; Hill, A; Sidle, K; Collinge, J; Budka, H.
Fatal familial insomnia: a new Austrian family.
Brain. 1999; 122 ( Pt 1)(8):5-16
Doi: 10.1093%2Fbrain%2F122.1.5
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
- Co-Autor*innen der Med Uni Graz
- Kleinert Reinhold
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- 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 20 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 PrP(res)(the protease resistant form of PrP) deposition and histopathology. In the cerebellar cortex of one patient, PrP(res) 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 PrP(res) deposits, resembling changes of brainstem neurons in bovine spongiform encephalopathy.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Austria -
- Blotting, Western -
- Brain - pathology
- Fatal Outcome - pathology
- Female - pathology
- Humans - pathology
- Male - pathology
- Middle Aged - pathology
- Pedigree - pathology
- PrPSc Proteins - metabolism
- Prions - genetics
- Sleep Initiation and Maintenance Disorders - genetics
- Find related publications in this database (Keywords)
- Fatal Familial Insomnia
- Prion Diseases
- Prion Protein
- Transmissible Spongiform Encephalopathies