NR AWCW
AU Capellari,S.; Cortelli,P.; Avoni,P.; Casadei,G.P.; Baruzzi,A.; Lugaresi,E.; Pocchiari,M.; Gambetti,P.; Montagna,P.; Parchi,P.
TI Sporadic fatal insomnia in a fatal familial insomnia pedigree
QU International Conference - Prion 2006: Strategies, advances and trends towards protection of society - 3.10.-6.10.2006, Torino, Italy, Lingotto Conference Centre - Poster sessions GEN-07
PT Konferenz-Poster
AB We describe a case of sporadic fatal insomnia (sFI) occurring in a family in which several members carried the D178N mutation in the PRNP gene and died of fatal familial insomnia (FFI). A 43-year-old woman presented with an 11-month history of diplopia, withdrawal, confusion, memory loss, unsteady gait and inability to sleep with episodes of agitation and dream enactment. After a progressive course characterized by cognitive impairment, marked gait ataxia, signs of autonomic hyperactivity, and myoclonus the patient died 24 months after the onset of symptoms. The patient did not have any personal contact with FFI affected relatives and her closest one was a paternal uncle, the son of her grand-grand mother. Analyses of DNA from various tissues of endo- ecto- and meso-dermal origin, including 5 different regions of the CNS revealed no pathogenic mutations and methionine homozygosity at codon 129 of PRNP. Brain histopathology and PrPsc typing showed typical features of FI such as thalamic and olivary atrophy, focal spongiform degeneration limited to the cerebral cortex, relative sparing of basal ganglia and cerebellum, and relatively low amount of PrPsc type 2A accumulation. sFI represents the rarest among the sporadic human TSE subtypes described to date with less than twenty cases described worldwide and only three cases diagnosed in Italy since the establishment of TSE surveillance. Similarly, only six unrelated FFI families have been observed in Italy to date, making the probability of a chance association between sFI and FFI in the same family extremely low. Thus, we believe that our observation emphasizes the importance of undiscovered factors modulating the susceptibility to human prion diseases. Supported by the EU Network of Excellence "NeuroPrion" (FOOD-CT-2004-506579).
AD S. Capellari, P. Cortelli, P. Avoni, A. Baruzzi, E. Lugaresi, P. Montagna, P. Parchi: Department of Neurological Sciences, University of Bologna, Bologna, Italy; G.P. Casadei: Department of Cell Biology and Neurosciences, ISS, Roma, Italy; M. Pocchiari: Servizio di Anatomia Patologica, Ospedale Maggiore, Bologna, Italy; P. Gambetti: Division of Neuropathology, CWRU, Cleveland, OH, USA. E-mail: capellari@neuro.unibo.it
SP englisch
PO Italien