A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: Phenotypical and neuropathological features

Journal of Alzheimer's Disease

Volumn 25, Issue 3, 2011, Pages 425-431

  Gallo, Maura ^a   Marcello, Norina ^b   Curcio, Sabrina A M ^a   Colao, Rosanna ^a   Geracitano, Silvana ^a   Bernardi, Livia ^a   Anfossi, Maria ^a   Puccio, Gianfranco ^a   Frangipane, Francesca ^a   Clodomiro, Alessandra ^a   Mirabelli, Maria ^a   Vasso, Franca ^a   Smirne, Nicoletta ^a   Muraca, Gabriella ^a   Di Lorenzo, Raffaele ^a   Maletta, Raffaele ^a   Ghidoni, Enrico ^b   Bugiani, Orso ^c   Tagliavini, Fabrizio ^c   Giaccone, Giorgio ^c   Bruni, Amalia C ^a   more..

^a ASP Catanzaro   (Italy)

^b S MARIA NUOVA HOSPITAL   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Alzheimer's disease; neurodegeneration; neuropathology; PSEN1 mutation

Indexed keywords

AMYLOID BETA PROTEIN[1-40]; AMYLOID BETA PROTEIN[1-42]; ISOLEUCINE; PRESENILIN 1; VALINE;

ADULT; ALZHEIMER DISEASE; APATHY; ARTICLE; BRAIN ATROPHY; CASE REPORT; CLINICAL EXAMINATION; CODON; FAMILY HISTORY; FEMALE; FRONTAL LOBE; GENE MUTATION; HUMAN; LANGUAGE DISABILITY; MOLECULAR GENETICS; NEUROPATHOLOGY; ONSET AGE; PERSONALITY DISORDER; PHENOTYPE; PRIORITY JOURNAL; RIGIDITY; SPATIAL DISCRIMINATION; TEMPORAL LOBE; TIME PERCEPTION; VASCULAR AMYLOIDOSIS; VISUAL HALLUCINATION;

EID: 79960817329     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-2011-110185     Document Type: Article

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