Gerstmann-Sträussler-Scheinker disease with P102L-V129 mutation: A case with psychiatric manifestations at onset

Annales de Genetique

Volumn 46, Issue 4, 2003, Pages 467-469

  Bianca, Marco ^a   Bianca, Sebastiano ^a   Vecchio, Ignazio ^a   Raffaele, Rocco ^a   Ingegnosi, Carmela ^a   Nicoletti, Francesco ^a  

^a UNIVERSITY OF CATANIA   (Italy)

Author keywords

Codon 129 polymorphism; Genotype phenotype relationship; Gerstman Str ussler Scheinder disease; P102L V129 mutation; Prion disease

Indexed keywords

GENOMIC DNA; PRION PROTEIN;

ADULT; APATHY; ARTICLE; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CEREBELLUM DISEASE; CEREBROSPINAL FLUID ANALYSIS; CLINICAL FEATURE; CODON; DEPRESSION; DISEASE COURSE; DNA EXTRACTION; ELECTROENCEPHALOGRAM; EVOKED RESPONSE; FAMILIAL DISEASE; FAMILY HISTORY; GENE AMPLIFICATION; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HUMAN; MALE; MENTAL DISEASE; MOLECULAR GENETICS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRION DISEASE; SEIZURE;

ATAXIA;

EID: 0344823809     PISSN: 00033995     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0003-3995(03)00017-0     Document Type: Article

References (9)

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