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

Neurological Sciences

Volumn 31, Issue 6, 2010, Pages 837-839

  Masullo, Carlo ^a   Bizzarro, Alessandra ^a   Guglielmi, Valeria ^a   Iannaccone, Elisabetta ^a   Minicuci, Giacomo ^a   Vita, Maria Gabriella ^a   Capellari, Sabina ^b   Parchi, Piero ^b   Servidei, Serenella ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Brain MRI FLAIR DWI; Creutzfeldt Jakob disease (CJD); Phenotype heterogeneity; PRNP E200K gene mutation

Indexed keywords

CLONAZEPAM; METHIONINE; PRION PROTEIN;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CREUTZFELDT JAKOB DISEASE; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; MEDICAL HISTORY; MILD COGNITIVE IMPAIRMENT; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPIC VARIATION; PHYSICAL EXAMINATION; SEQUENCE ANALYSIS;

AMINO ACID SUBSTITUTION; CREUTZFELDT-JAKOB SYNDROME; FEMALE; GENETIC HETEROGENEITY; GLUTAMIC ACID; HUMANS; LYSINE; MIDDLE AGED; PHENOTYPE; POINT MUTATION; PRIONS;

EID: 78650511978     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10072-010-0388-0     Document Type: Article

References (11)

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