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Article

Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family

1 Jul 1997

Abstract excerpt

Three members of a Basque family carrying a novel six R2 octapeptide repeat 144-bp insertion in the prion protein gene (PRNP) showed a slowly progressive dementia associated with cerebellar signs, myoclonic jerks, and seizures. Although postmortem examination revealed only focal and minimal spongiform degeneration in one subject with a 4-year course, significant astrogliosis and neuronal loss were associated with...

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PMID: 9222181
DOI: 10.1212/wnl.49.1.133

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