Milestones in familial Alzheimer's disease research

A Youngtimers Guide ・ Last Reviewed Nov 12 2025

In 1906, Alois Alzheimer presented a landmark case: a 51-year-old woman whose brain showed the lesions (what we now call amyloid plaques and neurofibrillary tangles) that became the hallmark of Alzheimer’s disease.¹

Since then, FAD families have played a key role in helping researchers understand Alzheimer’s disease.

In this timeline, you can see the rapid pace at which Alzheimer’s disease has progressed since the mid-1980’s.

• 1984: Researchers identify amyloid-β protein in the brain plaques characteristic of the disease.²

• 1985: Scientists identify the tau protein as the main component of the neurofibrillary tangles found in Alzheimer's brains.³

• 1987: First FAD gene, the amyloid precursor protein (APP), is discovered.⁴

• 1995: PSEN1 and PSEN2 genes are identified as causes of FAD.⁵

• 1993: Cerebrospinal fluid (CSF) biomarkers are discovered.⁶

• 2004: Radioactive imaging tracer Pittsburgh compound B (PiB) enables non-invasive detection and tracking of amyloid deposits in the human brain, making it possible to diagnose Alzheimer’s disease definitively using a PET scan.⁷

• 2008: The Dominantly Inherited Alzheimer Network (DIAN) launches.⁸

• 2012: DIAN studies show amyloid builds up 25 years before symptoms⁹, and first prevention trial launches¹⁰

• 2020: Researchers demonstrate the accuracy of perhaps the most useful biomarker yet: a form of the protein tau that can be detected in a simple blood test.¹¹

• 2021: Aducanumab becomes the first disease-modifying therapy for Alzheimer’s approved by the US FDA. But the approval of this anti-amyloid antibody proved controversial, with many researchers questioning the therapy’s ability to slow cognitive decline.¹² Aducanumab will be discontinued in 2024.¹³

• 2023: Lecanemab, marketed as Leqembi, receives first full FDA drug approval for treatment of Alzheimer’s.¹⁴ Lecanemab is found to slow the rate of cognitive decline by  27% compared to placebo.¹⁵

• 2025: FDA approves blood test (the Lumipulse G pTau217/ß-Amyloid 1-42 Plasma Ratio) for the early detection of amyloid plaques associated with Alzheimer’s disease in symptomatic adults patients 50 years or older.¹⁶

The rate of progress in Alzheimer’s research is made possible by smart researchers, generous funders, and you - the FAD community.

If you’re interested in the history of Alzheimer’s research, you may enjoy Valley of Forgetting by Jennie Erin Smith. It tells the story of Dr. Francisco Lopera and his work to discover and research FAD with families in the mountains of Columbia.

Ask the Expert Videos: Familial Alzheimer’s Disease Research

Sources

1. Alzforum. (n.d.). PSEN1 F176L. Retrieved from https://www.alzforum.org/mutations/psen1-f176l ⧉

2. Greenberg, S. M., & Davies, P. (1984). A specific method for the detection of Alzheimer’s neurofibrillary tangles using antisera to paired helical filaments. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 800(1), 77–82. https://www.sciencedirect.com/science/article/abs/pii/0006291X84912099 ⧉

3. Brion, J. P., Couck, A. M., Passareiro, E., & Flament-Durand, J. (1985). Neurofibrillary tangles of Alzheimer's disease: An immunohistochemical study. Journal of Submicroscopic Cytology, 17(1), 89–96. PMID: 3973960

4. Tcw, J., & Goate, A. M. (2017). Genetics of β-amyloid precursor protein in Alzheimer’s disease. Cold Spring Harbor Perspectives in Medicine, 7(6), a024539. https://doi.org/10.1101/cshperspect.a024539 ⧉

5. Vetrivel, K. S., Zhang, Y.-W., & Xu, H. (2006). Pathological and physiological functions of presenilins. Molecular Neurodegeneration, 1, 4. https://doi.org/10.1186/1750-1326-1-4 ⧉

6. Papassotiropoulos, A., Maddalena, A., Gretener, D., Nitsch, R. M., & Hock, C. (2004). Cerebrospinal fluid biomarkers for the diagnosis of Alzheimer’s disease. In B. T. Hyman, J.-F. Demonet, & Y. Christen (Eds.), The living brain and Alzheimer’s disease (pp. 11–22). Springer. https://doi.org/10.1007/978-3-642-59300-0_2 ⧉

7. Klunk, W. E., Engler, H., Nordberg, A., Wang, Y., Blomqvist, G., Holt, D. P., Bergström, M., Savitcheva, I., Huang, G. F., Estrada, S., Ausén, B., Debnath, M. L., Barletta, J., Price, J. C., Sandell, J., Lopresti, B. J., Wall, A., Koivisto, P., Antoni, G., Mathis, C. A., & Långström, B. (2004). Imaging brain amyloid in Alzheimer's disease with Pittsburgh Compound-B. Annals of Neurology, 55(3), 306–319. https://doi.org/10.1002/ana.20009 ⧉

8. Washington University School of Medicine. (n.d.). Dominantly Inherited Alzheimer Network (DIAN). Retrieved from https://medicine.washu.edu/impact/neurosciences/dian/ ⧉

9. Bateman, R. J., Xiong, C., Benzinger, T. L., Fagan, A. M., Goate, A., Fox, N. C., Marcus, D. S., Cairns, N. J., Xie, X., Blazey, T. M., Holtzman, D. M., Santacruz, A., Buckles, V., Oliver, A., Moulder, K., Aisen, P. S., Ghetti, B., Klunk, W. E., McDade, E., Martins, R. N., ... Morris, J. C. (2012). Clinical and biomarker changes in dominantly inherited Alzheimer's disease. New England Journal of Medicine, 367(9), 795–804. https://doi.org/10.1056/NEJMoa1202753 ⧉

10. Dominantly Inherited Alzheimer Network Trials Unit (DIAN-TU). (2012–present). Master Protocol DIAN-TU-001 [Clinical trial]. ClinicalTrials.gov Identifier: NCT01760005.

11. Alzheimer’s Association International Conference. (2020). Blood Biomarkers (AAIC 2020) [PDF]. https://aaic.alz.org/downloads2020/AAIC2020-BloodBiomarkers.pdf ⧉

12. Park, A. (2021, June 9). The FDA’s approval of a controversial new Alzheimer’s drug has experts alarmed. TIME. https://time.com/6072980/alzheimers-drug-approval-controversy ⧉

13. Alzheimer’s Association. (n.d.). Aducanumab (Aduhelm). Retrieved from https://www.alz.org/alzheimers-dementia/treatments/aducanumab ⧉

14. U.S. Food and Drug Administration. (2023, July 6). FDA converts novel Alzheimer’s disease treatment to traditional approval [Press release]. https://www.fda.gov/news-events/press-announcements/fda-converts-novel-alzheimers-disease-treatment-traditional-approval ⧉

15. van Dyck, C. H., Swanson, C. J., Aisen, P., Bateman, R. J., Chen, C., Gee, M., Kanekiyo, M., Li, D., Reyderman, L., Cohen, S., Froelich, L., Katayama, S., Lai, R. Y. K., Maeda, J., Masters, C. L., Nishikawa, M., Shah, S., Skovronsky, D. M., & Watson, B. (2023). Lecanemab in early Alzheimer’s disease. New England Journal of Medicine, 388(1), 9–21. https://doi.org/10.1056/NEJMoa2212948 ⧉

16. Alzheimer’s Association. (2025, January 23). FDA clears first blood test for Alzheimer’s diagnosis. https://www.alz.org/news/2025/fda-clears-blood-test-alzheimers-diagnosis ⧉