A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia

Journal of Alzheimer's disease : JAD

Volumn 41, Issue 3, 2014, Pages 709-714

  Testi, Silvia ^a   Peluso, Silvio ^a   Fabrizi, Gian M aria ^a   Antenora, Antonella ^a   Russo, Cinzia V aleria ^a   Pappatà, Sabina ^a   Padovani, Alessandro ^a   Ferrarini, Moreno ^a   Filla, Alessandro ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Ataxia; dominantly inherited spinocerebellar ataxias; early onset Alzheimer's disease; human PSEN1 protein

Indexed keywords

CHOLINESTERASE INHIBITOR; DONEPEZIL; FLUORODEOXYGLUCOSE F 18; INDAN DERIVATIVE; PIPERIDINE DERIVATIVE; PRESENILIN 1; PSEN1 PROTEIN, HUMAN;

ADULT; ALZHEIMER DISEASE; CEREBELLAR ATAXIA; COMPLICATION; DIAGNOSTIC USE; FEMALE; GENETICS; HUMAN; MALE; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; POSITRON EMISSION TOMOGRAPHY; YOUNG ADULT;

ADULT; ALZHEIMER DISEASE; CEREBELLAR ATAXIA; CHOLINESTERASE INHIBITORS; DNA MUTATIONAL ANALYSIS; FEMALE; FLUORODEOXYGLUCOSE F18; HUMANS; INDANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PIPERIDINES; POSITRON-EMISSION TOMOGRAPHY; PRESENILIN-1; YOUNG ADULT;

EID: 84937524011     PISSN: None     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-140081     Document Type: Article

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