OBJECTIVE: To characterize clinical features, CSF biomarkers and genetic polymorphisms of patients suffering from a rapidly progressing subtype of Alzheimer's dementia (rpAD). METHODS: Retrospective analyses of 32 neuropathologically confirmed cases differentially diagnosed as AD out of a group with rapidly progressive dementia. CSF biomarkers (14-3-3, tau, beta-amyloid 1-42) and genetic markers (PRNP codon 129, apolipoprotein E, ApoE, polymorphism) were determined. RESULTS: Median survival was 26 months, age at onset 73 years. Biomarkers: mean beta-amyloid 1-42: 266 pg/ml, median tau: 491 pg/ml, 14-3-3 positive: 31%. Genetic polymorphisms showed a predominance of methionine homozygosity at PRNP codon 129 and a low frequency of ApoE4 (38%, no homozygous patients). Thirty-five symptoms were studied. Frequent symptoms were myoclonus (75%), disturbed gait (66%) and rigidity (50%). DISCUSSION: rpAD is associated with a diversity of neurological signs even able to mimic Creutzfeldt-Jakob disease. Biomarkers and genetic profile differ from those seen in classical AD. The findings on biomarkers, symptomatology and genetics may aid the differential diagnostic process. Copyright (c) 2010 S. Karger AG, Basel.
OBJECTIVE: To characterize clinical features, CSF biomarkers and genetic polymorphisms of patients suffering from a rapidly progressing subtype of Alzheimer's dementia (rpAD). METHODS: Retrospective analyses of 32 neuropathologically confirmed cases differentially diagnosed as AD out of a group with rapidly progressive dementia. CSF biomarkers (14-3-3, tau, beta-amyloid 1-42) and genetic markers (PRNP codon 129, apolipoprotein E, ApoE, polymorphism) were determined. RESULTS: Median survival was 26 months, age at onset 73 years. Biomarkers: mean beta-amyloid 1-42: 266 pg/ml, median tau: 491 pg/ml, 14-3-3 positive: 31%. Genetic polymorphisms showed a predominance of methionine homozygosity at PRNP codon 129 and a low frequency of ApoE4 (38%, no homozygous patients). Thirty-five symptoms were studied. Frequent symptoms were myoclonus (75%), disturbed gait (66%) and rigidity (50%). DISCUSSION: rpAD is associated with a diversity of neurological signs even able to mimic Creutzfeldt-Jakob disease. Biomarkers and genetic profile differ from those seen in classical AD. The findings on biomarkers, symptomatology and genetics may aid the differential diagnostic process. Copyright (c) 2010 S. Karger AG, Basel.
Authors: Mark W Albers; Grover C Gilmore; Jeffrey Kaye; Claire Murphy; Arthur Wingfield; David A Bennett; Adam L Boxer; Aron S Buchman; Karen J Cruickshanks; Davangere P Devanand; Charles J Duffy; Christine M Gall; George A Gates; Ann-Charlotte Granholm; Takao Hensch; Roee Holtzer; Bradley T Hyman; Frank R Lin; Ann C McKee; John C Morris; Ronald C Petersen; Lisa C Silbert; Robert G Struble; John Q Trojanowski; Joe Verghese; Donald A Wilson; Shunbin Xu; Li I Zhang Journal: Alzheimers Dement Date: 2014-07-09 Impact factor: 21.566
Authors: Olga Calero; María J Bullido; Jordi Clarimón; Ana Frank-García; Pablo Martínez-Martín; Alberto Lleó; María Jesús Rey; Alberto Rábano; Rafael Blesa; Teresa Gómez-Isla; Fernando Valdivieso; Jesús de Pedro-Cuesta; Isidro Ferrer; Miguel Calero Journal: PLoS One Date: 2011-07-20 Impact factor: 3.240