Mutations in the amyloid precursor protein (APP) gene cause one form of early onset familial Alzheimer’s disease (AD). One such family has been studied genetically and neuropathologically and represents the basis of the present report. Four siblings with the APP717 Val to Ile mutation, aged 59, 65, 61 and 64 years, apolipoprotein E (APOE) genotyped 2,4 (first three) and 2,3 respectively, had severe AD, Braak stage VI with frequent neurofibrillary tangles in the primary visual cortex, Brodmann area 17. The first one also met McKeith criteria for the limbic stage of dementia with Lewy bodies but did not have substantia nigra Lewy bodies. The second two met McKeith criteria for the neocortical stage of dementia with Lewy bodies and both had substantia nigra Lewy bodies. The fourth had AD but no Lewy bodies. A cousin without the APP717 mutation who was APOE 3, 4, developed dementia at age 60 and died at age 75. She had severe cerebrovascular atherosclerosis, less severe AD, Braak stage V, with sparing of area 17. She also had Lewy bodies in the substantia nigra and in the cortex and met McKeith criteria for neocortical stage of dementia with Lewy bodies. Extrapyramidal features were present in all five. Lewy bodies have been described in 53% of reported autopsies on individuals with the APP717 Val to Ile mutation coincident with dementia and AD neuropathologic changes. These observations suggest an association between the chromosome 21 APP mutation and Lewy body formation, possibly mediated by other environmental or genetic factors.
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Similar content being viewed by others Explore related subjectsDiscover the latest articles and news from researchers in related subjects, suggested using machine learning. Author information Authors and AffiliationsBryan Alzheimer’s Disease Research Center, Division of Neurology, Department of Medicine, Box 2900, Duke University Medical Center, Durham, NC 27710, USA, , , , , , US
C. K. Rosenberg, A. M. Saunders & C. M. Hulette
Center for Human Genetics, Department of Medicine, Box 3445, Duke University Medical Center, Durham, NC 27710, USA, , , , , , US
M. A. Pericak-Vance, J. R. Gilbert & P. C. Gaskell
Received: 6 July 1999 / Revised, accepted: 19 October 1999
About this article Cite this articleRosenberg, C., Pericak-Vance, M., Saunders, A. et al. Lewy body and Alzheimer pathology in a family with the amyloid-β precursor protein APP717 gene mutation. Acta Neuropathol 100, 145–152 (2000). https://doi.org/10.1007/s004019900155
Issue Date: July 2000
DOI: https://doi.org/10.1007/s004019900155
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