Gerstmann‐Sträussler‐Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients

• DOI: 10.1212/wnl.45.6.1127
• Publication Date: 2012-05-13T13:16:08Z
• Authors: K. Young; C. K. Jones; P. Piccardo; A. Lazzarini; L. I. Golbe; T. R. Zimmerman; D. W. Dickson; D. C. McLachlan; P. St. George-Hyslop; A. Lennox; S. Perlman; H. V. Vinters; M. E. Hodes; S. Dlouhy; B. Ghetti
• Keywords: PRNP; Cytosine

We present two patients with Gerstmann-Sträussler-Scheinker disease (GSS), one from a previously undescribed kindred and the Canadian branch of reported British kindred. In both patients, GSS is caused by substitution thymine for cytosine at codon 102 prion protein gene (PRNP). each patient, we confirmed clinical diagnosis neuropathologic examination. The mutation, causing leucine proline residue (P102L) protein, has been in least 30 other families. described here, mutation was coupling methionine PRNP 129.