Gerstmann-Straussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients
1995; Lippincott Williams & Wilkins; Volume: 45; Issue: 6 Linguagem: Inglês
10.1212/wnl.45.6.1127
ISSN1526-632X
AutoresKatherine Young, Cheron Jones, Pedro Piccardo, Alice Lazzarini, Lawrence I. Golbe, T. R. Zimmerman, Dennis W. Dickson, D. C. McLachlan, Peter St George‐Hyslop, Ashley L. Lennox, S.L. Perlman, Harry V. Vinters, M. E. Hodes, S. R. Dlouhy, Bernardino Ghetti,
Tópico(s)Trace Elements in Health
ResumoWe 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, causing a substitution of leucine for proline at residue 102 (P102L) of the prion protein, has been previously reported in at least 30 other families. In the patients described here, the mutation was in coupling with methionine at PRNP codon 129.
Referência(s)