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Creutzfeldt-Jakob disease associated with an R148H mutation of the prion protein gene

✍ Scribed by Bjarne Krebs; Rosa-Maria Lederer; Otto Windl; Eva-Maria Grasbon-Frodl; Inga Zerr; Hans A. Kretzschmar

Publisher
Springer
Year
2005
Tongue
English
Weight
140 KB
Volume
6
Category
Article
ISSN
1364-6745

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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