Neurofibrillary tangles in Gerstmann-Sträussler-Scheinker syndrome with the A117V prion gene mutation.

doi:10.1136/jnnp.63.2.240

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Article

Neurofibrillary tangles in Gerstmann-Sträussler-Scheinker syndrome with the A117V prion gene mutation.

Journal of neurology, neurosurgery, and psychiatry - 1 Aug 1997

Tranchant C, Sergeant N, Wattez A, Mohr M, Warter J M, Delacourte A

Abstract excerpt

One patient of a French family with Gerstmann-Sträussler-Scheinker syndrome with the mutation in codon 117 of the prion protein (PrP) gene displayed unexpected neuritic degeneration around PrP plaques and numerous diffuse neurofibrillary tangles, whereas other members did not. The tau profile in...

Topics

Adult
Codon
Female
Genotype
Gerstmann-Straussler-Scheinker Disease
Humans
Middle Aged
Neurofibrillary Tangles
Phenotype
Point Mutation
Prions
tau Proteins

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