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Article

Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study.

Neurology - 22 Aug 2000

Bütefisch C M, Gambetti P, Cervenakova L, Park K Y, Hallett M, Goldfarb L G

Abstract excerpt

OBJECTIVE: To describe a variant of prion encephalopathy associated with the recently identified H187R mutation in the prion protein (PRNP) gene. METHODS: The authors studied a multigenerational American family with nine affected individuals. Clinical examination included imaging, EEG, and CSF analysis with 14-3-3 protein testing. Histopathology was characterized by examination of a brain biopsy from an H187R...

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Identifiers

PMID: 10953183
DOI: 10.1212/wnl.55.4.517

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PRNP

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