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Early‐onset Alzheimer's disease with presenilin‐1 M139V mutation: clinical, neuropsychological and neuropathological study
Author(s) -
Larner A. J.,
Du Plessis D. G.
Publication year - 2003
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1046/j.1468-1331.2003.00597.x
Subject(s) - presenilin , medicine , pathological , neuropathology , neuropsychology , disease , mutation , pathology , early onset alzheimer's disease , age of onset , alzheimer's disease , neuroscience , psychiatry , genetics , psychology , biology , cognition , gene
The clinical, neuropsychological and neuropathological features of a patient with early‐onset Alzheimer's disease as a result of the M139V presenilin‐1 (PSEN‐1) mutation are presented, and compared with previous reports of patients with the same mutation. Similarities, such as the age at onset and the relative preservation of naming skills, and differences, such as the significant basal ganglia, thalamic and cerebellar pathology, are noted. This clinical and pathological heterogeneity in patients with the same PSEN‐1 mutation suggests phenotype modulation by genetic and/or epigenetic factors.