Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Fatal familial insomnia: a new Austrian family
Autore:
Almer, G; Hainfellner, JA; Brucke, T; Jellinger, K; Kleinert, R; Bayer, G; Windl, O; Kretzschmar, HA; Hill, A; Sidle, K; Collinge, J; Budka, H;
Indirizzi:
Univ Vienna, Inst Neurol, AKH, A-1097 Vienna, Austria Univ Vienna ViennaAustria A-1097 st Neurol, AKH, A-1097 Vienna, Austria Univ Vienna, Neurol Clin, A-1010 Vienna, Austria Univ Vienna Vienna Austria A-1010 a, Neurol Clin, A-1010 Vienna, Austria Univ Vienna, Austrian Reference Ctr Human Prion Dis, A-1010 Vienna, Austria Univ Vienna Vienna Austria A-1010 uman Prion Dis, A-1010 Vienna, Austria Lainz Hosp, Ludwig Boltzmann Inst Clin Neurobiol, Vienna, Austria Lainz Hosp Vienna Austria oltzmann Inst Clin Neurobiol, Vienna, Austria Univ Gottingen, Inst Neuropathol, D-3400 Gottingen, Germany Univ Gottingen Gottingen Germany D-3400 athol, D-3400 Gottingen, Germany St Marys Hosp, Imperial Coll, London, England St Marys Hosp London England Marys Hosp, Imperial Coll, London, England Graz Univ, Inst Pathol, A-8010 Graz, Austria Graz Univ Graz Austria A-8010 az Univ, Inst Pathol, A-8010 Graz, Austria
Titolo Testata:
BRAIN
, volume: 122, anno: 1999,
parte:, 1
pagine: 5 - 16
SICI:
0006-8950(199901)122:<5:FFIANA>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
CREUTZFELDT-JAKOB-DISEASE; PRION PROTEIN GENE; CLINICOPATHOLOGICAL PHENOTYPES; MUTATION; PATHOLOGY; CODON-178; BRAIN; DNA;
Keywords:
fatal familial insomnia; prion diseases; prion protein; transmissible spongiform encephalopathies;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Budka, H Univ,Vienna, Inst Neurol, AKH, Wahringer Gurtel 18-20,POB 48, A-1097 Vienna Univ Vienna Wahringer Gurtel 18-20,POB 48 Vienna Austria A-1097
Citazione:
G. Almer et al., "Fatal familial insomnia: a new Austrian family", BRAIN, 122, 1999, pp. 5-16

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 ail 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 resistantform 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 orientationto 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 17/09/19 alle ore 22:38:08