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Inherited prion disease caused by the V210I mutation

Transmission to transgenic mice

From the Institute for Neurodegenerative Diseases and Departments of Neurology (Drs. Mastrianni, Telling, Prusiner, and DeArmond, and D. Han), Pathology (Dr. DeArmond), and Biochemistry and Biophysics (Dr. Prusiner), University of California, San Francisco; and Division of Neuropathology (Dr. Capellari), Institute of Pathology, Case Western Reserve University, Cleveland, OH.

Address correspondence and reprint requests to Dr. S.J. DeArmond, Department of Pathology, HSW430, Box 0506, University of California, San Francisco, CA 94143-0506; e-mail: jmast{at}neurology.bsd.uchicago.edu

Objective: To describe the clinical and neuropathologic profile and determine the strain characteristics of familial Creutzfeldt–Jakob disease (fCJD) caused by a point mutation of the PRNP gene at codon 210 that results in a valine-to-isoleucine substitution in the prion protein (PrP).

Methods: The clinicopathologic features of four individuals from the United States who died of fCJD(V210I) were compared. Transgenic (Tg) mice expressing a chimeric human–mouse PrP transgene were inoculated with brain extracts from three fCJD(V210I) cases, sporadic CJD (sCJD), fCJD(E200K), and fatal familial insomnia (FFI), to compare prion strain characteristics.

Results: The clinicopathologic profile of fCJD(V210I) was variable among cases but shared similarities with sCJD. The pattern of PrP^Sc deposition in the brains of Tg mice was similar to that caused by sCJD but different from that associated with fCJD(E200K) or FFI.

Conclusions: Each of these prion diseases is characterized by a rapidly progressive dementia with myoclonus, periodic complexes on EEG, and spongiform change without PrP plaque deposition in the brain. The occurrence of a different PrP^Sc phenotype with each PRNP mutation argues that each respective amino acid sequence substitution produces a different prion strain.

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