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An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene

✍ Scribed by Carlo Masullo; Alessandra Bizzarro; Valeria Guglielmi; Elisabetta Iannaccone; Giacomo Minicuci; Maria Gabriella Vita; Sabina Capellari; Piero Parchi; Serenella Servidei

Publisher
Springer Milan
Year
2010
Tongue
English
Weight
133 KB
Volume
31
Category
Article
ISSN
1590-1874

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## Abstract We report two Creutzfeldt‐Jakob disease (CJD) patients with rhythmic pupillary and palpebral oscillation who had a mutation of prion protein codon 200 that resulted in the substitution of lysine for glutamate (Glu/Lys). Alternating dilation and constriction of the pupils combined with e