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Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene

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Original languageEnglish
Pages (from-to)65-69
Number of pages5
JournalJournal of Neurology, Neurosurgery & Psychiatry
Issue number1
Publication statusPublished - 1995


A case of familial Creutzfeldt-Jakob disease associated with a 144 base pair insertion in the open reading frame of the prion protein gene is described. Sequencing of the mutated allele showed an arrangement of six octapeptide repeats, distinct from that of a recently described British family with an insertion of similar size. Thirteen years previously the brother of the proband had died from 'Huntington's disease', but re-examination of his neuropathology revealed spongiform encephalopathy and anti-prion protein immunocytochemistry gave a positive result. The independent evolution of at least two distinct pathological 144 base pair insertions in Britain is proposed. The importance of maintaining a high index of suspicion of inherited Creutzfeldt-Jakob disease in cases of familial neurodegenerative disease is stressed.

    Research areas

  • Base pair insertion, Creutzfeldt-Jakob disease, Mutations, Prion protein gene

ID: 46943736