PT  - JOURNAL ARTICLE
AU  - Bradford B Worrall
AU  - Susan T Herman
AU  - Sabina Capellari
AU  - Timothy Lynch
AU  - Steven Chin
AU  - Pierluigi Gambetti
AU  - Piero Parchi
TI  - Type 1 protease resistant prion protein and valine homozygosity at codon 129 of <em>PRNP</em> identify a subtype of sporadic Creutzfeldt-Jakob disease
AID  - 10.1136/jnnp.67.5.671
DP  - 1999 Nov 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 671--674
VI  - 67
IP  - 5
4099  - http://jnnp.bmj.com/content/67/5/671.short
4100  - http://jnnp.bmj.com/content/67/5/671.full
SO  - J Neurol Neurosurg Psychiatry1999 Nov 01; 67
AB  - A man was studied with sporadic Creutzfeldt-Jakob disease (sCJD) who had serial cortical syndromes evolving over 15 months without significant ataxia, prominent myoclonus, or periodic complexes on EEG examinations. This clinical phenotype correlated with a predominantly cortical and striatal distribution of lesions and accumulation of protease resistant prion protein with relative sparing of the brainstem or cerebellum. No amyloid plaques were seen and prion protein (PrP) immunohistochemistry only demonstrated very faint granular deposits in the cerebral cortex. Molecular analysis showed homozygosity for valine at codon 129 in the prion protein gene (PRNP) and protease resistant prion protein type 1 deposition. The comparison of molecular and clinicopathological features of the present case with those previously reported in sCJD, indicates that valine homozygosity at codon 129 and type 1 protease resistant prion protein are associated with a distinct phenotypic variant of sCJD. The data also support the view that thePRNP codon 129 polymorphism and the physicochemical properties of the protease resistant prion protein are major determinants of phenotypic variability in sCJD.