Open AccessChildhood Onset in Familial Prion Disease With a Novel Mutation in the PRNP Gene
Author(s) -
Ekaterina Rogaeva,
Cindy Zadikoff,
Jonathan Ponesse,
Gerold SchmittUlms,
Toshitaka Kawarai,
Christine Sato,
Shabnam SalehiRad,
Peter St GeorgeHyslop,
Anthony E. Lang
Publication year - 2006
Publication title -
archives of neurology
Language(s) - English
Resource type - Journals
eISSN - 1538-3687
pISSN - 0003-9942
DOI - 10.1001/archneur.63.7.1016
Subject(s) - prnp , genetics , disease , mutation , dementia , biology , genetic heterogeneity , coding region , gene , medicine , phenotype , genotype , pathology
Up to 15% of cases of prion diseases are due to the autosomal dominant inheritance of coding PRNP mutations.
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