Familial presenile dementia with psychosis associated with cortical neurofibrillary tangles and degeneration of the amygdala
Abstract
We report a family in which 13 members in three generations had the presenile (age 42 to 66 years) onset of dementia with an autosomal dominant pattern of inheritance. An early symptom in eight individuals was prominent antisocial psychotic or belligerent behavior, often leading to the initial clinical diagnosis of paranoid schizophrenia. Duration of illness was longer than is usual in Alzheimer's disease (AD), ranging from 14 to 26 years in six members. Three affected siblings and a cousin have come to autopsy, and all had neurofibrillary tangles without senile plaques in several regions of the neocortex, amygdala, and parahippocampal gyrus. The hippocampus was free of both neurofibrillary tangles and senile plaques in all four, but in three there was neuronal loss with gliosis in the CA1 region of Ammon's horn bilaterally. There also was neuronal loss and neurofibrillary tangles in the nucleus basalis. The neurofibrillary tangles were tau-2 and Alz-50 positive and were composed of paired helical filaments ultrastructurally. The disease in this kindred appears to be a unique hereditary disorder that is distinct from familial AD.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The tau-V337M mutation is located in MAPT exon 12, expressed in iPSC-derived neurons, and associated with FTD with abundant neurofibrillary tangles in frontal and temporal cortices and the cingulate gyrus and atrophy throughout the hippocampus and amygdala.
“The tau-V337M mutation selected for this study is located in MAPT exon 12, expressed in iPSC-derived neurons, and associated with FTD with abundant neurofibrillary tangles in frontal and temporal cortices and the cingulate gyrus and atrophy throughout the hippocampus and amygdala (Spillantini et al., 1996; Spina et al., 2017; Sumi et al., 1992).”
From ELAVL4, splicing, and glutamatergic dysfunction precede neuron loss in MAPT mutation cerebral organoids (2021) · cites this paper as Sumi et al., 1992
Cited by
Sorted by citations
Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
Spillantini, M. G., Murrell, J. R., Goedert, M., Farlow, M. R., Klug, A., & Ghetti, B. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.13.7737 · Cited by 1,474 · see citing works
Tau is a candidate gene for chromosome 17 frontotemporal dementia
Poorkaj, P., Bird, T. D., Wijsman, E., Nemens, E., Garruto, R. M., Anderson, L., Andreadis, A., Wiederholt, W. C., Raskind, M., & Schellenberg, G. D. (1998) · Annals of Neurology · doi:10.1002/ana.410430617 · Cited by 1,374 · see citing works
Self-citationArendt, T., Stieler, J. T., & Holzer, M. (2016) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2016.08.018 · Cited by 609 · see citing works
Snowden, J. S., Rollinson, S., Thompson, J. C., Harris, J. M., Stopford, C. L., Richardson, A. M. T., Jones, M., Gerhard, A., Davidson, Y. S., Robinson, A., et al. (2012) · Brain · doi:10.1093/brain/awr355 · Cited by 523 · see citing works
Theunis, C., Crespo-Biel, N., Gafner, V., Pihlgren, M., López-Deber, M. P., Reis, P., Hickman, D. T., Adolfsson, O., Chuard, N., Ndao, D. M., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0072301 · Cited by 259 · see citing works
“absence of amyloid or other aggregated proteins [12–15].”
BackgroundTau isoform regulation is region‐ and cell‐specific in mouse brain
McMillan, P., Korvatska, E., Poorkaj, P., Evstafjeva, Z., Robinson, L., Greenup, L., Leverenz, J., Schellenberg, G. D., & D'Souza, I. (2008) · Journal of Comparative Neurology · doi:10.1002/cne.21867 · Cited by 179 · see citing works
Bowles, K. R., Silva, M. C., Whitney, K., Bertucci, T., Berlind, J. E., Lai, J. D., Garza, J. C., Boles, N. C., Mahali, S., Strang, K. H., et al. (2021) · Cell · doi:10.1016/j.cell.2021.07.003 · Cited by 175 · see citing works
Genetic Determinants of Human Health Span and Life Span: Progress and New Opportunities
Martin, G. M., Bergman, A., & Barzilai, N. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030125 · Cited by 120 · see citing works
Jones, D. T., Knopman, D. S., Graff-Radford, J., Syrjanen, J. A., Senjem, M. L., Schwarz, C. G., Dheel, C., Wszolek, Z., Rademakers, R., Kantarci, K., et al. (2018) · Neurology · doi:10.1212/wnl.0000000000005117 · Cited by 71 · see citing works
- Authors
- Sumi, S. M., Bird, T. D., Nochlin, D., & Raskind, M. A.
- Affiliations
- University of Washington (US)
- Venue
- Neurology
- Published
- 1992-01
- Volume
- 42
- Issue
- 1
- Pages
- 120-120
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2043478432
- Cited by
- 118
- References
- 0
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2023: 1 · 2022: 4 · 2021: 2 · 2020: 1 · 2019: 1 · 2018: 1 · 2017: 5 · 2016: 5 · 2015: 2 · 2014: 1 · 2013: 1 · 2012: 2
- FWCI
- 1.08
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5r01ag008419-15, 5p50gm015253-22)
- National Institute on Aging (AG08419, AG 05136, P50AG005136)
- National Institute of General Medical Sciences (GM15253)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- early-onset dementia, psychosis, familial dementia, autosomal dominant inheritance, neurofibrillary tangles, paranoid schizophrenia, Alzheimer's disease, paired helical filaments, nucleus basalis of Meynert, gliosis, hereditary dementia
- MeSH terms
- Alzheimer Disease, Amygdala, Cerebral Cortex, Dementia, Female, Humans, Male, Middle Aged, Pedigree, Psychotic Disorders, Schizophrenia, Paranoid, Neurofibrillary Tangles
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
