A presenilin-1 mutation (Leu392Pro) in a familial AD kindred with psychiatric symptoms at onset

Neurology

Volumn 55, Issue 10, 2000, Pages 1590-1591

  Tedde, A ^a   Forleo, P ^a   Nacmias, B ^a   Piccini, C ^a   Bracco, L ^a   Piacentini, S ^a   Sorbi, Sandro ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIDEPRESSANT AGENT; CHOLINERGIC RECEPTOR BLOCKING AGENT; PRESENILIN 1;

ADULT; ALZHEIMER DISEASE; AMNESIA; ARTICLE; BEHAVIOR DISORDER; FAMILIAL DISEASE; FEMALE; GENETIC POLYMORPHISM; HUMAN; MAJOR CLINICAL STUDY; MALE; MANIC DEPRESSIVE PSYCHOSIS; MENTAL DISEASE; MISSENSE MUTATION; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0034727634     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.55.10.1590     Document Type: Article

References (7)

1. Early-onset autosomal dominant Alzheimer disease: Prevalence, genetic heterogeneity, and mutation spectrum
2. Italian Multicentre Study on Dementia (SMID): A neuropsychological test battery for assessing Alzheimer's disease
3. Mutations of the presenilin I gene in families with early-onset Alzheimer's disease
4. Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease
5. Presenilins interact with armadillo proteins including neural-specific plakophilin-related protein and beta-catenin
6. The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains beta-catenin
7. Presenilin 1 interaction in the brain with a novel member of the Armadillo family