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Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport

Kunkle, Brian W., Vardarajan, Badri N., Naj, Adam C., Whitehead, Patrice L., Rolati, Sophie, Slifer, Susan, Carney, Regina M., Cuccaro, Michael L., Vance, Jeffery M., Gilbert, John R., Wang, Li-San, Farrer, Lindsay A., Reitz, Christiane, Haines, Jonathan L., Beecham, Gary W., Martin, Eden R., Schellenberg, Gerard D., Mayeux, Richard P., Pericak-Vance, Margaret A.·2017·JAMA Neurology
DOI 10.1001/jamaneurol.2017.1518
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  • Loss-of-function variants in SORL1 are causative for Alzheimer's disease.

    “Loss of function variants in SORL1 are causative for Alzheimer's disease (ad)”

    From The Alzheimer's Disease Gene SORL1 Regulates Lysosome Function in Human Microglia (2025) · cites this paper as Kunkle et al. 2017

    The ‘Variants in Known EOAD Genes’ section reports a SORL1 frameshift variant in two sisters, one with Alzheimer’s disease and one with mild cognitive impairment. The Discussion calls SORL1 a risk factor, while Table 1 lists the frameshift variant’s clinical significance as undetermined; the paper does not establish that SORL1 loss-of-function variants cause Alzheimer’s disease. Page numbers are unavailable in our copy. (LLM, conf=0.88)

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  • Genetic, epidemiological, and functional studies have established SORL1 as a gene that increases the risk for AD.

    “Genetic, epidemiological, and functional studies have now cumulatively and unequivocally established SORL1 as a gene that increases the risk for ad, highlighting aberrant endo‐lysosomal trafficking as an important pathway in ad pathogenesis (Holstege et al. 2017, 2023; Kunkle et al. 2017; Lambert et al. 2013; Rogaeva et al. 2007; Scheltens et al. 2021).”

    From The Alzheimer's Disease Gene SORL1 Regulates Lysosome Function in Human Microglia (2025) · cites this paper as Kunkle et al. 2017

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Research works printed but not linked: 51

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Metadata

Authors
Kunkle, B. W., Vardarajan, B. N., Naj, A. C., Whitehead, P. L., Rolati, S., Slifer, S., Carney, R. M., Cuccaro, M. L., Vance, J. M., Gilbert, J. R., Wang, L.-S., Farrer, L. A., Reitz, C., Haines, J. L., Beecham, G. W., Martin, E. R., Schellenberg, G. D., Mayeux, R. P., & Pericak-Vance, M. A.
Affiliations
  • John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida
  • The Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University, New York, New York3The Gertrude H. Sergievsky Center, Columbia University, New York, New York4Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York
  • Department of Biostatistics, Epidemiology, and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia
  • Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia
  • Institute for Computational Biology, Case Western Reserve University, Cleveland, Ohio
Venue
JAMA Neurology
Publisher
American Medical Association (AMA)
Published
2017-09-01
Volume
74
Issue
9
Pages
1113
ISSN
2168-6149
DOI
10.1001/jamaneurol.2017.1518
Cited by
58
References
14
Language
en

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