A Novel Eight Octapeptide Repeat Insertion in PRNP Causing Prion Disease in a Danish Family

Keyphrases

• Prion Protein Gene 100%
• Prion Disease 100%
• Octapeptide Repeat Insertion 100%
• Dementia 20%
• Clinical Features 20%
• Disease Duration 20%
• Clinical Genetics 20%
• Gene-gene 20%
• Mutation Carriers 20%
• Methionine 20%
• Disease Phenotype 20%
• Associated Genes 20%
• Dementia with 20%
• Motor Symptoms 20%
• Disease Manifestations 20%
• Pathogenic mutations 20%
• Misfolding 20%
• Pathological Changes 20%
• Unique Sequences 20%
• Genetic Characteristics 20%
• Pathological Parameters 20%
• Prion Protein 20%
• Codon 129 20%
• Progressive Dementia 20%
• Symptom Onset 20%
• Clinical Exome Sequencing 20%

Neuroscience

• Prion Protein 100%
• Transmissible Spongiform Encephalopathy 100%
• Octapeptide 100%
• Codon 20%
• Methionine 20%
• Exome Sequencing 20%
• Genetics 20%
• Prion Disease 20%