Prion mutation D178N with highly variable disease onset and phenotype

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 80, Issue 3, 2009, Pages 345-346

  Synofzik, M ^a   Bauer, P ^b   Schdls, L ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 3; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; PRNP PROTEIN, HUMAN;

ADL DISABILITY; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CLINICAL FEATURE; DNA POLYMORPHISM; ELECTROENCEPHALOGRAM; FAMILY HISTORY; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; HYPERTENSION; LOW DRUG DOSE; MALE; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PHENOTYPE; PRION DISEASE; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION; AGED; ALLELE; CHROMOSOME ABERRATION; CODON; CREUTZFELDT JAKOB DISEASE; DOMINANT GENE; FATAL FAMILIAL INSOMNIA; FEMALE; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; GERMANY; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HETEROZYGOTE DETECTION; MIDDLE AGED; NUCLEOTIDE SEQUENCE; ONSET AGE; PENETRANCE; PRION;

ADULT; AGE OF ONSET; AGED; ALLELES; CHROMOSOME ABERRATIONS; CODON; CREUTZFELDT-JAKOB SYNDROME; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GERMANY; GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; HETEROZYGOTE DETECTION; HUMANS; INSOMNIA, FATAL FAMILIAL; MALE; MIDDLE AGED; PEDIGREE; PENETRANCE; PHENOTYPE; POLYMORPHISM, GENETIC; PRION DISEASES; PRIONS; YOUNG ADULT;

EID: 61549091509     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.149922     Document Type: Article

References (5)

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