Article
A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease.
Neurology - 26 Apr 2005
Rodriguez M-M, Peoc'h K, Haïk S, Bouchet C, Vernengo L, Mañana G, Salamano R, Carrasco L, Lenne M, Beaudry P, Launay J-M, Laplanche J-L
Abstract excerpt
Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). We report a novel missense mutation in the PRNP gene (resulting in a G114V mutation in PrP) in members of a Uruguayan family with clinical and histopathologic features of prion disease. Affected individuals were characterized by an early age at onset, initial neuropsychiatric symptoms, late dementia with...
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