NR AGUK
AU Krasemann,S.; Zerr,I.; Weber,T.; Poser,S.; Kretzschmar,H.A.; Hunsmann,G.; Bodemer,W.
TI Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene
QU Brain Research. Molecular Brain Research 1995 Dec 1; 34(1): 173-6
PT journal article
AB Some cases of spongiform encephalopathies are linked to mutations within the prion protein gene (PRNP). Repetitive octapeptide insertions of variable length in the PRNP gene are also associated with spongiform encephalopathies, mostly familial Creutzfeldt-Jakob disease (CJD). In this study we report on a novel insertion mutation comprising nine extra octapeptide repeats between codons 51 and 91 of the PRNP gene. The affected patient showed a slowly progressive dementia of at least 6 years duration and ataxia.
IN Bei einem Patienten mit einer Insertion von 9 zusätzlichen Oktapeptiden zwischen den Codons 51 und 91 dauerte die Krankheitsphase mit Bewegungsstörungen und zunehmendem geistigem Verfall mindestens 6 Jahre.
ZR 11
MH Adult; Base Sequence; Case Report; Creutzfeldt-Jakob Syndrome/*genetics; *DNA Transposable Elements; Female; Human; Molecular Sequence Data; Oligopeptides/*genetics; Pedigree; Prion Diseases/*genetics; Prions/*genetics; *Repetitive Sequences, Nucleic Acid
AD Department of Virology and Immunology, German Primate Centre, Göttingen, Germany.
SP englisch
PO Niederlande