A Novel PRNP Y218N mutation in gerstmann-sträussler-scheinker disease with neurofibrillary degeneration

Journal of Neuropathology and Experimental Neurology

Volumn 69, Issue 8, 2010, Pages 789-800

  Alzualde, Ainhoa ^a   Indakoetxea, Begoña ^b   Ferrer, Isidre ^c,h   Moreno, Fermin ^b   Barandiaran, Myriam ^b   Gorostidi, Ana ^a   Estanga, Ainara ^a   Ruiz, Irune ^b   Calero, Miguel ^d,h   Van Leeuwen, Fred W ^e   Atares, Begoña ^f   Juste, Ramón ^g   Rodriguez Martínez, Ana Belén ^g   López De Munain, Adolfo ^a,b,h  

^a BIODONOSTIA HEALTH RESEARCH INSTITUTE   (Spain)

^b HOSPITAL DONOSTIA   (Spain)

^c HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^d INSTITUTO DE SALUD CARLOS III   (Spain)

^e MAASTRICHT UNIVERSITY   (Netherlands)

^f Hospital de Txagorritxu   (Canada)

^g NEIKER and a Vaccine producing Commercial Company CZVSL   (Spain)

^h CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

Author keywords

Frontotemporal dementia; Gerstmann Str ussler Scheinker; Hyperphosphorylated tau; Neurofibrillary tangles; Prion disease; PRNP 218.

Indexed keywords

ANTIBODY; PRION PROTEIN; PROTEINASE K; TAU PROTEIN; UBIQUITIN;

ADULT; ALZHEIMER DISEASE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CLINICAL FEATURE; CREUTZFELDT JAKOB DISEASE; DYSTROPHY; FAMILY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC ASSOCIATION; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; INCUBATION TIME; MITOCHONDRION; NEURITE; NEUROFIBRILLARY TANGLE; NEUROPATHOLOGY; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ASPARAGINE; BRAIN; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FRONTOTEMPORAL DEMENTIA; GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; HUMANS; MIDDLE AGED; NEUROFIBRILLARY TANGLES; PRIONS; TYROSINE; UBIQUITIN; VOLTAGE-DEPENDENT ANION CHANNELS;

EID: 77955472233     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1097/NEN.0b013e3181e85737     Document Type: Article

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