A new point mutation of the PRNP gene in Gerstmann-Straüssler-Scheinker case in Poland

Folia Neuropathologica

Volumn 38, Issue 4, 2000, Pages 164-166

  Bratosiewicz, Jolanta ^a   Barcikowska, Maria ^b   Cervenakowa, L ^c   Brown, Paul ^c   Gajdusek, D Carleton ^d   Liberski, Paweł P ^a  

^a MEDICAL UNIVERSITY OF LODZ   (Poland)

^b MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d NONE

Author keywords

Gerstmann Str ussler Scheinker disease; New point mutation

Indexed keywords

AMYLOID BETA PROTEIN; DNA; METHIONINE; PRION PROTEIN; THREONINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BASAL GANGLION; BRAIN ATROPHY; BRAIN CORTEX; CASE REPORT; CEREBELLUM DEGENERATION; CODON; CONTROLLED STUDY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HIPPOCAMPUS; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; PATHOGENESIS; POINT MUTATION; POLAND; PRION PROTEIN GENE; PROTEIN METABOLISM; TEMPORAL CORTEX;

EID: 0034590585     PISSN: 00283894     EISSN: 1509572X     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Hitoshi S, Nagura H, Yamanouchi H, Kitamoto T (1993) Double mutations at codon 180 and 232 of the PRNP gene in an apparently sporadic case of Creutzfeldt-Jakob disease. J Neurol Sci 120: 208-212
2. Kitamoto T, Ohta M, Doh-Ura K, Hitoshi S, Terao Y, Tateishi J (1993) Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Straussler-Scheinker syndrome. Biochem Biophys Res Comm 191: 709-714
3. Liberski PP, Barcikowska M, Cervenakova J, Marczewska M, Brown P, Gajdusek DC (1998) A case of Creutzfeldt-Jakob disease with a Gerstmann-Straussler-Scheinker phenotype but no alterations in the PRNP gene. Acta Neuropathol (Berl) 96: 425-430
4. Prusiner SB (1996) Introduction: Prion diseases. Sem Virol 7 157-173
5. Weissmann C (1999) Molecular genetics of transmissible spongiform encephalopathies. J Biol Chem 274: 3-6