Abstract
We identified a Brazilian family with an autosomal dominant fronto-temporal form of dementia. The disease had a mean age of onset of 44.8 ± 3.8 years and a duration of 4.2 ± 2.4 years. Neuropathological examination of three cases showed neuronal loss and severe spongiform change in the deep layers of the cortex and in the putamen in absence of the usual gliotic reaction associated with most neurodegenerative diseases. Prion protein immunoreactivity was detected as diffuse staining in the otherwise normal cerebellum, and as prion plaque-like deposits in the putamen. A mutation at codon 183 of the prion protein gene was identified in two affected individuals and transmitted in a Mendelian fashion to 12 family members. This new inherited variant of human prion diseases represents an unusual clinico-pathological entity of prion diseases.
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Nitrini, R. et al. (1998). Human Prion Protein Gene Mutation at Codon 183 Associated with an Atypical Form of Prion Disease. In: Morrison, D.R.O. (eds) Prions and Brain Diseases in Animals and Humans. NATO ASI Series, vol 295. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-1896-3_3
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DOI: https://doi.org/10.1007/978-1-4899-1896-3_3
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