Article
Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures.
Journal of neuropathology and experimental neurology - 1 Dec 2001
Takao M, Ghetti B, Murrell J R, Unverzagt F W, Giaccone G, Tagliavini F, Bugiani O, Piccardo P, Hulette C M, Crain B J, Farlow M R, Heyman A
Abstract excerpt
We report clinical, neuropathologic and molecular genetic data from an individual affected by a familial Alzheimer disease (AD) variant. The proband had an onset of dementia at age 29 followed by generalized seizures a year later. He died at age 40. Neuropathologically, he had severe brain atrophy and characteristic histopathologic lesions of AD. Three additional neuropathologic features need to be emphasized: 1)...
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