Creutzfeldt-Jakob disease with E200K PRNP mutation: A case report and revision of the literature

Neurological Sciences

Volumn 30, Issue 5, 2009, Pages 417-420

  Mancuso, Michelangelo ^a   Siciliano, Gabriele ^a   Capellari, Sabina ^b   Orsucci, Daniele ^a   Moretti, Policarpo ^a   Fede, Giuseppe Di ^c   Suardi, Silvia ^c   Strammiello, Rosaria ^b   Parchi, Piero ^b   Tagliavini, Fabrizio ^c   Murri, Luigi ^a  

^a UNIVERSITY OF PISA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

CJD; Codon 200; Prions; PRNP; PrP; Spastic tetraparesis

Indexed keywords

ADENINE; GLUTAMIC ACID; GUANINE; LYSINE; PRION PROTEIN; PROTEIN 14 3 3; TAU PROTEIN;

ADULT; AKATHISIA; AKINETIC MUTISM; AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CODON; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; CREUTZFELDT JAKOB DISEASE; DEMENTIA; EEG ABNORMALITY; FEMALE; GENE SEQUENCE; HISTOCHEMISTRY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; LYMPHOCYTE; MUSCLE WEAKNESS; MYOCLONUS; NERVE CELL DEGENERATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPISTHOTONUS; PHENOTYPIC VARIATION; QUADRIPLEGIA; VISUAL IMPAIRMENT; WESTERN BLOTTING;

CREUTZFELDT-JAKOB SYNDROME; DNA MUTATIONAL ANALYSIS; FEMALE; GLUTAMIC ACID; HUMANS; LYSINE; MIDDLE AGED; MUTATION; PRIONS;

EID: 70349652087     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10072-009-0118-7     Document Type: Article

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