D178N, 129Val and N171S, 129Val genotype in a family with Creutzfeldt-Jakob disease.
BACKGROUND
Fatal familial insomnia (FFI) and genetic Creutzfeldt-Jakob disease (CJD(D178N,)(129V)) are two phenotypes that share a common point mutation at codon 178 of the prion protein gene (PRNP), but differ in their polymorphism at codon 129 of the mutant allele. A mutation at codon 171 of the PRNP gene has been described in a family with a strong psychiatric history without prion disease.


METHODS
Clinical and genetic information of a family with CJD was obtained from medical records and family informants.


RESULTS
We identified an African-American family with molecular and genetically confirmed CJD(D178N,)(129V) that also carried the N171S, 129V polymorphism and had a strong psychiatric clinical presentation.


CONCLUSIONS
This is a complex family that carries the D178N, 129V and N171S, 129V genotype. This report is the first description of both genotypes occurring within a family with genetic human prion disease.
Division of Geriatric Psychiatry and Neuropsychiatry, Johns Hopkins University School of Medicine, Baltimore, Md., USA. bappleb1@jhmi.edu
Brian S
BS
Appleby
Kristin K
KK
Appleby
Ryan C W
RC
Hall
Mitchell T
MT
Wallin
D001741:Black or African American; D000928:Antidepressive Agents / Q000627:therapeutic use; D001921:Brain / Q000473:pathology; D003062:Codon; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology; D004569:Electroencephalography; D005190:Family; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D020280:Sertraline / Q000627:therapeutic use; D013313:Stress Disorders, Post-Traumatic / Q000523:psychology; D014633:Valine / Q000502:physiology; D014728:Veterans
D000928:Antidepressive Agents; D003062:Codon; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D014633:Valine; D020280:Sertraline