论文信息 - Prion protein (PRNP) genotypes in frontotemporal lobar degeneration syndromes

Prion protein (PRNP) genotypes in frontotemporal lobar degeneration syndromes

The common polymorphism of the human prion protein gene (PRNP) at codon 129 is known to be a strong suscep-tibility or modifying factor for all forms of human prion disease. 1 A number of nonprion diseases have also been pro-posed to associate with PRNP polymorphisms. Li and colleagues 2 report a strong association of this polymorphism with language syndromes in frontotemporal lobar degeneration (FTLD): codon 129 heterozygosity was present in 14 of 16 (88%) nonfluent, 5 of 5 (100%) fluent

[1] G. Schellenberg,et al. Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia , 2005, Annals of neurology.

[2] M. Farrall,et al. Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1. , 2001, American journal of human genetics.

[3] J. Collinge. Prion diseases of humans and animals: their causes and molecular basis. , 2001, Annual review of neuroscience.

[4] R. Faber,et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. , 1999, Neurology.