title: Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases.
abstract: A novel point mutation resulting in a glutamate-to-glycine substitution in PRNP at codon 200, E200G with codon 129 MV polymorphism (cis valine) and type 2 PrPSc was identified in a patient with a prolonged disease course leading to pathology-proven Jakob-Creutzfeldt disease. Despite the same codon as the most common genetic form of human PRNP mutation, E200K, this novel mutation (E200G) presented with a different clinical and pathological phenotype, including prolonged duration, large vacuoles, no vacuolation in the hippocampus, severe neuronal loss in the thalamus, mild cerebellar involvement, and abundant punctate linear and curvilinear deposition of PrPSc in synaptic boutons and axonal terminals along the dendrites.
authors: Mee-Ohk
authors: MO
authors: Kim
authors: Ignazio
authors: I
authors: Cali
authors: Abby
authors: A
authors: Oehler
authors: Jamie C
authors: JC
authors: Fong
authors: Katherine
authors: K
authors: Wong
authors: Tricia
authors: T
authors: See
authors: Jonathan S
authors: JS
authors: Katz
authors: Pierluigi
authors: P
authors: Gambetti
authors: Brianne M
authors: BM
authors: Bettcher
authors: Stephen J
authors: SJ
authors: Dearmond
authors: Department of Neurology, Memory and Aging Center, University of California, San Francisco (UCSF), San Francisco, CA 94143, USA. mgeschwind@memory.ucsf.edu.
authors: Michael D
authors: MD
authors: Geschwind
mesh_terms: D001921:Brain / Q000473:pathology; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology / Q000523:psychology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009483:Neuropsychological Tests; D010375:Pedigree; D017354:Point Mutation; D011328:Prions / Q000235:genetics*
chemical_list: D011328:Prions