De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia

MeSH terms

• Adult
• Brain / metabolism
• Codon / genetics
• DNA Repeat Expansion / genetics*
• Dementia / diagnosis*
• Dementia / genetics*
• Early Diagnosis*
• Fluorodeoxyglucose F18 / pharmacokinetics
• Genotype
• Humans
• Italy
• Magnetic Resonance Imaging
• Male
• Pedigree
• Point Mutation / genetics*
• Polymorphism, Single Nucleotide / genetics
• Positron-Emission Tomography
• Prion Proteins
• Prions / genetics*
• Radiopharmaceuticals / pharmacokinetics