Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in PRNP: the next generation.
Neurocase
; 26(4): 211-219, 2020 08.
Article
in En
| MEDLINE
| ID: mdl-32602775
BACKGROUND: Highly penetrant inherited mutations in the prion protein gene (PRNP) offer a window to study the pathobiology of prion disorders. METHOD: Clinical, neuropsychological, and neuroimaging characterization of a kindred. RESULTS: Three of four mutation carriers have progressed to a frontotemporal dementia phenotype. Declines in neuropsychological function coincided with changes in FDG-PET at the identified onset of cognitive impairment. CONCLUSIONS AND RELEVANCE: Gene silencing treatments are on the horizon and when they become available, early detection will be crucial. Longitudinal studies involving familial mutation kindreds can offer important insights into the initial neuropsychological and neuroimaging changes necessary for early detection.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Frontotemporal Dementia
/
Prion Proteins
Type of study:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limits:
Adult
/
Humans
/
Middle aged
Language:
En
Journal:
Neurocase
Journal subject:
CIENCIAS DO COMPORTAMENTO
/
NEUROLOGIA
/
PSICOLOGIA
/
PSIQUIATRIA
Year:
2020
Document type:
Article
Affiliation country:
Estados Unidos
Country of publication:
Reino Unido