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Advanced Neurology Genomic insights into Alzheimer

Remarkably, despite this correlation, epitope toxicity did not 3. Dementia: Key Facts, 2022. Available from: https://www.
exert a substantial influence on clinical outcomes. who.int/news-room/fact-sheets/detail/dementia [Last
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In essence, our findings underscore the significance of
precise genetic mutation profiling within fAD subtypes. These 4. Selkoe DJ, 2011, Alzheimer’s disease. Cold Spring Harb
insights have far-reaching implications for the development Perspect Biol, 3: a004457.
of tailored diagnostic and therapeutic strategies, allowing for https://doi.org/10.1101/cshperspect.a004457
a more nuanced approach to the clinical management of fAD. 5. Trambauer J, Fukumori A, Steiner H, 2020, Pathogenic
Our research forms a crucial stepping stone in the ongoing Aβ generation in familial Alzheimer’s disease: Novel
quest to decipher the complex interplay between genetics, mechanistic insights and therapeutic implications. Curr
physicochemical properties, and clinical presentations in Opin Neurobiol, 61: 73–81.
neurodegenerative disorders like fAD. https://doi.org/10.1016/j.conb.2020.01.011

Acknowledgments 6. Marechal L, Campion D, Hannequin D, 2020, Familial forms
of Alzheimer’s disease. Presse Med, 32: 756–763.
None.
7. Hoogmartens J, Cacace R, Van Broeckhoven C, 2021,
Funding Insight into the genetic etiology of Alzheimer’s disease:
A comprehensive review of the role of rare variants.
None. Alzheimers Dement (Amst), 13: e12155.
Conflict of interest https://doi.org/10.1002/dad2.12155

The authors declare that they have no competing interests. 8. Jayne T, Newman M, Verdile G, et al., 2016, Evidence for and
against a pathogenic role of reduced γ- secretase activity in
Author contributions familial Alzheimer’s disease. J Alzheimers Dis, 52: 781–799.
https://doi.org/10.3233/JAD-151186
Conceptualization: Mourad Tayebi and Utpal K Adhikari
Formal analysis: All authors 9. Patterson C, Feightner JW, Garcia A, et al., 2008, Diagnosis
Investigation: Mourad Tayebi and Utpal K Adhikari and treatment of dementia: 1. Risk assessment and primary
Methodology: Georgia Uebergang prevention of Alzheimer disease. CMAJ, 178: 548–556.
Writing – original draft: All authors https://doi.org/10.1503/cmaj.070796
Writing – review and editing: Mourad Tayebi and Utpal K 10. Li NM, Liu KF, Qiu YJ, et al., 2019, Mutations of beta-amyloid
Adhikari precursor protein alter the consequence of Alzheimer’s
disease pathogenesis. Neural Regen Res, 14: 658–665.
Ethics approval and consent to participate
https://doi.org/10.4103/1673-5374.247469
Not applicable.
11. Cai Y, An SSA, Kim S, 2015, Mutations in presenilin 2 and
Consent for publication its implications in Alzheimer’s disease and other dementia-
associated disorders. Clin Interv Aging, 10: 1163–1172.
Not applicable.
https://doi.org/10.2147/CIA.S85808
Availability of data 12. Shea Y, Chu L, Chan A, et al., 2016, A systematic review of
familial Alzheimer’s disease: Differences in presentation of
Detailed results of our analyses are included in this article clinical features among three mutated genes and potential
and its additional files. The raw data supporting the ethnic differences. J Formos Med Assoc, 115: 67–75.
conclusions of this article will be made available by the
authors without undue reservation. htps://doi.org/10.1016/j.jfma.2015.08.004
13. Kasuga K, Kikuchi M, Tokutake T, et al., 2015, Systematic
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Volume 2 Issue 4 (2023) 17 https://doi.org/10.36922/an.1734