Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation

Journal of Alzheimer's Disease

Volumn 32, Issue 1, 2012, Pages 1-12

  Sepulveda Falla, Diego ^a   Glatzel, Markus ^a   Lopera, Francisco ^b  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSIDAD DE ANTIOQUIA   (Colombia)

Author keywords

Alzheimer's disease; early onset; phenotype; presenilin 1

Indexed keywords

ALANINE; AMYLOID BETA PROTEIN; AMYLOID BETA PROTEIN[1-40]; AMYLOID BETA PROTEIN[1-42]; AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E; GLUTAMIC ACID; PRESENILIN 1; PRESENILIN 2; TAU PROTEIN;

ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; BRAIN ATROPHY; BRAIN CORTEX; CEREBELLUM; CEREBELLUM INJURY; CLINICAL FEATURE; CLINICAL TRIAL (TOPIC); COGNITIVE DEFECT; DISEASE ASSOCIATION; DISEASE SEVERITY; EARLY ONSET FAMILIAL ALZHEIMER DISEASE; ENZYME LINKED IMMUNOSORBENT ASSAY; EVENT RELATED POTENTIAL; FAMILIAL ALZHEIMER DISEASE; FUNCTIONAL MAGNETIC RESONANCE IMAGING; FUNCTIONAL NEUROIMAGING; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HIPPOCAMPUS; HUMAN; IMMUNOHISTOCHEMISTRY; MESENCEPHALON; MILD COGNITIVE IMPAIRMENT; MINI MENTAL STATE EXAMINATION; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; REVIEW; RISK FACTOR; SEMANTIC MEMORY; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOM;

EID: 84867525450     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-2012-120907     Document Type: Review

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