Journal
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
Volume 60, Issue 12, Pages 1137-1152Publisher
OXFORD UNIV PRESS INC
DOI: 10.1093/jnen/60.12.1137
Keywords
Alzheimer disease; amyloid beta protein; epilepsy; myoclonus; neuronal migration; presenilin mutation; Tau protein
Categories
Funding
- NIA NIH HHS [P30 AG10133] Funding Source: Medline
- NINDS NIH HHS [R01 NS14426] Funding Source: Medline
Ask authors/readers for more resources
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) severe deposition of AP in the form of diffuse deposits in the cerebral and cerebellar cortices, 2) numerous AP deposits in the subcortical white matter and in the centrum. semiovale, and 3) numerous ectopic neurons, often containing tau-immunopositive neurofibrillary tangles, in the white matter of the frontal and temporal lobes. A molecular genetic analysis of DNA extracted from brain tissue of the proband revealed a S169L mutation in the Presenilin 1 (PSEN1) gene. The importance of this case lies in the presence of ectopic neurons in the white matter, early-onset seizures, and a PSEN1 mutation. We hypothesize that the PSEN1 mutation may have a causal relationship with an abnormality in neuronal development.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available