Jamie C Fong Julio C Rojas Jee Bang Andrea Legati Katherine P Rankin Sven Forner Zachary A Miller Anna M Karydas Giovanni Coppola Carrie K Grouse Jeffrey Ralph Bruce L Miller Michael D Geschwind
10.3233/JAD-160300
J Alzheimers Dis
2017;55(1):249-258.
amyloidosis dna sequencing dysautonomia exome mutation peripheral neuropathy prion dementia
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/27716661/
Codon, Nonsense Prion Diseases / genetics Prion Diseases / physiopathology Prion Proteins / genetics
Codon, Nonsense Prion Diseases / genetics Prion Diseases / physiopathology Prion Proteins / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adult Brain / diagnostic imaging Disease Progression Follow-Up Studies Humans Longitudinal Studies Male Pedigree Peripheral Nerves / physiopathology Phenotype Prion Diseases / diagnostic imaging Codon, Nonsense PRNP protein, human Prion Proteins
PMC5149415
27716661
Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy
2017