A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF

European Journal of Neurology

Volumn 17, Issue 4, 2010, Pages 631-633

  Uttner, I ^a   Kirchheiner, J ^b   Tumani, H ^a   Mottaghy, F M ^c   Lebedeva, E ^b   Ozer E ^b   Ludolph, A C ^a   Huber, R ^a   Von Arnim, C A F ^a  

^a UNIVERSITY HOSPITAL ULM   (Germany)

^b UNIVERSITY OF ULM   (Germany)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Alzheimer's; CSF; Familial; FDG PET; Neuropsychology; Presenilin; Spastic paraparesis

Indexed keywords

AMYLOID BETA PROTEIN[1-42]; ARGININE; GLUTAMINE; PRESENILIN 1;

ADULT; ALZHEIMER DISEASE; ANAMNESIS; ARTICLE; BEHAVIOR CHANGE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; COGNITIVE DEFECT; DNA SEQUENCE; DYSARTHRIA; GAIT DISORDER; GENETIC ANALYSIS; HUMAN; MALE; MINI MENTAL STATE EXAMINATION; MISSENSE MUTATION; ONSET AGE; PRIORITY JOURNAL; SPASTIC PARAPLEGIA;

ADULT; AGE OF ONSET; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; BRAIN; DYSARTHRIA; FAMILY; FEMALE; FLUORODEOXYGLUCOSE F18; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE; PARAPARESIS, SPASTIC; PEDIGREE; POSITRON-EMISSION TOMOGRAPHY; PRESENILIN-1;

EID: 77949593595     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2009.02810.x     Document Type: Article

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