Clinical picture of a patient with a novel PSEN1 mutation (L424V)

American Journal of Alzheimer's Disease and other Dementias

Volumn 24, Issue 1, 2009, Pages 40-45

  Robles, A ^a,d   Sobrido, M J ^b,c   Garcia Murias M ^b   Prieto, J M ^a   Lema, M ^a   Santos, D ^a   Paramo, M ^b  

^a Division of Neurology   (Spain)

^b HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^d NONE   (Spain)

Author keywords

Alzheimer's disease; Anorexia nervosa; Fontotemporal dementia; Mutation; Presenilin 1

Indexed keywords

LEUCINE; PRESENILIN 1; VALINE; DIAGNOSTIC AGENT; HEXAMETHYLPROPYLENE AMINE OXIME TECHNETIUM TC 99M; PSEN1 PROTEIN, HUMAN; RADIOPHARMACEUTICAL AGENT;

ABNORMAL BEHAVIOR; ADULT; AGGRESSION; ALZHEIMER DISEASE; AMNESIA; ANOREXIA NERVOSA; APHASIA; ARTICLE; ATTENTION DEFICIT DISORDER; BLOOD; BRAIN; BRAIN ATROPHY; BRAIN CORTEX; BRAIN PERFUSION; CASE REPORT; CEREBROSPINAL FLUID; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DEMENTIA; DIFFUSE LEWY BODY DISEASE; ELECTROPHORESIS; FEMALE; FRONTAL LOBE; FRONTOTEMPORAL DEMENTIA; GENE; GENE MUTATION; GENETIC ANALYSIS; GRIP STRENGTH; HUMAN; HYPERREFLEXIA; IMPULSIVENESS; MYOCLONUS; NUCLEAR MAGNETIC RESONANCE; PARIETAL LOBE; PATHOGENESIS; PHENOTYPE; PSEN1 GENE; REFLEX; SEIZURE; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; STEREOTYPY; SYMPTOM; TEMPORAL LOBE; URINE INCONTINENCE; ATROPHY; GENETICS; MUTATION; ONSET AGE; PATHOLOGY; PATHOPHYSIOLOGY; RADIOGRAPHY; SCINTISCANNING; VASCULARIZATION;

ADULT; AGE OF ONSET; AMNESIA; ANOREXIA NERVOSA; ATROPHY; BRAIN; DEMENTIA; FEMALE; FRONTAL LOBE; HUMANS; MUTATION; PRESENILIN-1; RADIOPHARMACEUTICALS; TECHNETIUM TC 99M EXAMETAZIME; TEMPORAL LOBE; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON; TOMOGRAPHY, X-RAY COMPUTED;

EID: 63349088576     PISSN: 15333175     EISSN: None     Source Type: Journal    
DOI: 10.1177/1533317508324272     Document Type: Article

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