Article
Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.
Neurology - 1 Jun 1995
Young K, Jones C K, Piccardo P, Lazzarini A, Golbe L I, Zimmerman T R, Dickson D W, McLachlan D C, St George-Hyslop P, Lennox A
Abstract excerpt
We present two patients with Gerstmann-Sträussler-Scheinker disease (GSS), one from a previously undescribed kindred and one from the Canadian branch of a previously reported British kindred. In both patients, GSS is caused by a substitution of thymine for cytosine at codon 102 of the prion protein gene (PRNP). In each patient, we confirmed the clinical diagnosis by neuropathologic examination. The mutation,...
Topics
- Adult
- Base Sequence
- Codon
- Female
- Gerstmann-Straussler-Scheinker Disease
- Humans
- Male
- Methionine
- Middle Aged
- Molecular Sequence Data
- Mutation