Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease.

Heckmann, Jeannine M; Low, Wee-Chuang; de Villiers, Cora; Rutherfoord, Stuart; Vorster, Alvera; Rao, Harpal; Morris, Christopher M; Ramesar, Raj S; Kalaria, Raj N

Heckmann, Jeannine M; Low, Wee-Chuang; de Villiers, Cora; Rutherfoord, Stuart; Vorster, Alvera; Rao, Harpal; Morris, Christopher M; Ramesar, Raj S; Kalaria, Raj N.

Affiliation

Heckmann JM; Division of Neurology, Groote Schur Hospital and University of Cape Town, South Africa.

Brain ; 127(Pt 1): 133-42, 2004 Jan.

Article in En | MEDLINE | ID: mdl-14570818

Subject(s)

Alzheimer Disease/genetics; Membrane Proteins/genetics; Mutation; Neurofibrillary Tangles/pathology; Age of Onset; Aged; Alzheimer Disease/pathology; Apolipoproteins E/genetics; DNA Mutational Analysis/methods; Disease Progression; Female; Genetic Linkage; Humans; Male; Middle Aged; Neuropsychological Tests; Pedigree; Presenilin-1; Psychometrics; South Africa

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Collection: 01-internacional Database: MEDLINE Main subject: Neurofibrillary Tangles / Alzheimer Disease / Membrane Proteins / Mutation Limits: Aged / Female / Humans / Male / Middle aged Country/Region as subject: Africa Language: En Journal: Brain Year: 2004 Type: Article Affiliation country: South Africa

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