Atypical presentation of a novel Presenilin 1 R377W mutation: Sporadic, late-onset Alzheimer Disease with epilepsy and frontotemporal atrophy

Neurological Sciences

Volumn 33, Issue 2, 2012, Pages 375-378

  Borroni, Barbara ^a   Pilotto, Andrea ^a   Bonvicini, Cristian ^b   Archetti, Silvana ^c   Alberici, Antonella ^a   Lupi, Andrea ^d   Gennarelli, Massimo ^b,e   Padovani, Alessandro ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b IRCCS ISTITUTO CENTRO SAN GIOVANNI DI DIO FATEBENEFRATELLI   (Italy)

^c Department of Paediatrics   (Italy)

^d SAN BORTOLO HOSPITAL   (Italy)

^e UNIVERSITY OF BRESCIA   (Italy)

Author keywords

Alzheimer Disease; Frontotemporal; Genetics; Mutation; Presenilin 1

Indexed keywords

ETIRACETAM; FLUORODEOXYGLUCOSE F 18; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; PRESENILIN 1;

ADULT; AGED; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; APATHY; ARTICLE; AWARENESS; BRADYCARDIA; BRAIN ATROPHY; BRAIN DISEASE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; COGNITION; COGNITIVE DEFECT; DRUG EFFICACY; DRUG SAFETY; DYSLIPIDEMIA; ELECTROENCEPHALOGRAPHY; EPILEPSY; FRONTOTEMPORAL ATROPHY; GENE; GENE MUTATION; HOSPITAL ADMISSION; HUMAN; MALE; MINI MENTAL STATE EXAMINATION; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; NUCLEOTIDE SEQUENCE; PACEMAKER; POSITRON EMISSION TOMOGRAPHY; PSEN1 GENE; SEIZURE; SOCIAL BEHAVIOR; VERBAL MEMORY;

AGED; ALZHEIMER DISEASE; ARGININE; ATROPHY; EPILEPSY; FLUORODEOXYGLUCOSE F18; FRONTAL LOBE; HUMANS; MALE; MUTATION; POSITRON-EMISSION TOMOGRAPHY; PRESENILIN-2; TEMPORAL LOBE; TOMOGRAPHY, X-RAY COMPUTED; TRYPTOPHAN;

EID: 84863981957     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-011-0714-1     Document Type: Article

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