NR ACRU
AU Cochran,E.J.; Bennett,D.A.; Cervenakova,L.; Kenney,K.; Bernard,B.; Foster,N.L.; Benson,D.F.; Goldfarb,L.G.; Brown,P.
TI Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation
QU Neurology 1996 Sep; 47(3): 727-33
PT journal article
AB We report a familial form of Creutzfeldt-Jakob disease, associated with a unique insert mutation of the PRNP gene in an American family of Ukrainian origin. Ten family members exhibited early age at onset and long-duration illnesses characterized primarily by personality changes, cognitive impairment, and spasticity. The proband, presenting at age 42 years, exhibited a fairly stable, nonprogressive course over 7 years, followed by precipitous decline and death in the eighth year. Other affected family members exhibited marked clinical heterogeneity. Each tested affected member had an insert mutation consisting of five extra octapeptide repeats between codons 51 and 91 of the PRNP gene on chromosome 20. Examination of two autopsy cases showed classic spongiform change, neuronal loss and astrocytosis in one case, and minimal pathologic abnormality in the other case. This report documents a new insert mutation of the PRNP gene, and confirms the early age of onset, characteristically prolonged clinical course, and clinical and pathologic heterogeneity seen in such mutations.
IN Bei einer amerikanischen Familie ukainischen Ursprungs führte eine Insertionsmutation mit fünf zusätzlichen Oktapeptiden bei mindestens 10 Familienmitgliedern zu einer früh einsetzenden, aber lange andauernden Creutzfeldt-Jakob-Krankheit. Bei einem Fall soll die Krankheit mit 42 Jahren begonnen und danach 7 Jahre lang stabil geblieben sein, bevor er dann im achten Jahr starb. Auffällig war auch eine große klinische und pathologische Heterogentiät bei den Betroffenen dieser Familie.
ZR 27
MH Adult; Amino Acid Sequence; Creutzfeldt-Jakob Syndrome/*genetics/psychology; Human; Molecular Sequence Data; *Mutation; Neuropsychological Tests; Pedigree; Support, U.S. Gov't, P.H.S.
AD Department of Neurological Sciences, Rush Alzheimer's Disease Center, Rush-Presbyterian-St. Luke's Medical Center, Chicago, IL, USA
SP englisch
PO USA