A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas

European Journal of Neurology

Volumn 14, Issue 12, 2007, Pages 1409-1412

  Sanchez Valle R ^a,b   Llado A ^c   Ezquerra, M ^c   Rey, M J ^d   Rami, L ^b   Molinuevo, J L ^b,c  

^a HOSPITAL CLÍNIC   (Spain)

^b Hospital Clinic   (Spain)

^c INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^d UNIVERSITY OF BARCELONA   (Spain)

Author keywords

Alzheimer disease; Amyloid; Cerebral amyloid angiopathy; Early onset dementia; Familial dementia; Intracranial haematoma; Missense mutation; Presenilin

Indexed keywords

PRESENILIN 1;

ADULT; ALZHEIMER DISEASE; AMNESIA; ARTICLE; BRAIN HEMATOMA; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; DEMENTIA; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; MISSENSE MUTATION; MORTALITY; NEUROPATHOLOGY; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; VASCULAR AMYLOIDOSIS;

AGE OF ONSET; ALZHEIMER DISEASE; BRAIN; CEREBRAL AMYLOID ANGIOPATHY; CEREBRAL ARTERIES; CEREBRAL HEMORRHAGE; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; PRESENILIN-1;

EID: 36248994580     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2007.01988.x     Document Type: Article

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