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Article

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

Brain : a journal of neurology - 1 Jan 2004

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

Abstract excerpt

Genetically determined Alzheimer's disease (AD) is virtually unknown in Africa. We report clinicopathological findings and a presenilin 1 (PS1) mutation associated with early-onset AD in a large Xhosa family from Southern Africa. Twelve individuals spanning four generations were affected, four of whom underwent clinical and psychometric evaluation. Their phenotype was characterized by memory impairment beginning...

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PMID: 14570818
DOI: 10.1093/brain/awh009

Genes

APOE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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