The Spectrum of Mutations in Progranulin: A Collaborative Study Screening 545 Cases of Neurodegeneration
Open accessAbstract
BACKGROUND: Mutation in the progranulin gene (GRN) can cause frontotemporal dementia (FTD). However, it is unclear whether some rare FTD-related GRN variants are pathogenic and whether neurodegenerative disorders other than FTD can also be caused by GRN mutations. OBJECTIVES: To delineate the range of clinical presentations associated with GRN mutations and to define pathogenic candidacy of rare GRN variants. DESIGN: Case-control study. SETTING: Clinical and neuropathology dementia research studies at 8 academic centers. PARTICIPANTS: Four hundred thirty-four patients with FTD, including primary progressive aphasia, semantic dementia, FTD/amyotrophic lateral sclerosis (ALS), FTD/motor neuron disease, corticobasal syndrome/corticobasal degeneration, progressive supranuclear palsy, Pick disease, dementia lacking distinctive histopathology, and pathologically confirmed cases of frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U); and 111 non-FTD cases (controls) in which TDP-43 deposits were a prominent neuropathological feature, including subjects with ALS, Guam ALS and/or parkinsonism dementia complex, Guam dementia, Alzheimer disease, multiple system atrophy, and argyrophilic grain disease. MAIN OUTCOME MEASURES: Variants detected on sequencing of all 13 GRN exons and at least 80 base pairs of flanking introns, and their pathogenic candidacy determined by in silico and ex vivo splicing assays. RESULTS: We identified 58 genetic variants that included 26 previously unknown changes. Twenty-four variants appeared to be pathogenic, including 8 novel mutations. The frequency of GRN mutations was 6.9% (30 of 434) of all FTD-spectrum cases, 21.4% (9 of 42) of cases with a pathological diagnosis of FTLD-U, 16.0% (28 of 175) of FTD-spectrum cases with a family history of a similar neurodegenerative disease, and 56.2% (9 of 16) of cases of FTLD-U with a family history. CONCLUSIONS: Pathogenic mutations were found only in FTD-spectrum cases and not in other related neurodegenerative diseases. Haploinsufficiency of GRN is the predominant mechanism leading to FTD.
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Progranulin (GRN) is a genetic regulator of LDAM formation.
“Progranulin (GRN) was determined to be a genetic regulator of LDAM formation and loss-of-function mutations in GRN are a cause of frontotemporal dementia [162,165].”
From ROS Generation in Microglia: Understanding Oxidative Stress and Inflammation in Neurodegenerative Disease (2020) · cites this paper as [165]
Loss-of-function mutations in GRN are a cause of frontotemporal dementia.
“Progranulin (GRN) was determined to be a genetic regulator of LDAM formation and loss-of-function mutations in GRN are a cause of frontotemporal dementia [162,165].”
From ROS Generation in Microglia: Understanding Oxidative Stress and Inflammation in Neurodegenerative Disease (2020) · cites this paper as [165]
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“Progranulin (GRN) was determined to be a genetic regulator of LDAM formation and loss-of-function mutations in GRN are a cause of frontotemporal dementia [162,165].”
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- Authors
- Yu, C.-E., Bird, T. D., Bekris, L. M., Montine, T. J., Leverenz, J. B., Steinbart, E., Galloway, N. M., Feldman, H., Woltjer, R., Miller, C. A., Wood, E. M., Grossman, M., McCluskey, L., Clark, C. M., Neumann, M., Danek, A., Galasko, D. R., Arnold, S. E., Chen-Plotkin, A., Karydas, A., Miller, B. L., Trojanowski, J. Q., Lee, V. M.-Y., Schellenberg, G. D., & Van Deerlin, V. M.
- Affiliations
- VA Puget Sound Health Care System (US)
- University of Southern California (US)
- ORCID
- Yu, Chang-En
- Bird, Thomas D.
- Bekris, Lynn M.
- Montine, Thomas J.
- Leverenz, James B.
- Feldman, Howard
- Woltjer, Randall
- Miller, Carol A.
- Wood, Elisabeth McCarty
- Grossman, Murray
- Clark, Christopher M.
- Neumann, Manuela
- Danek, Adrian
- Galasko, Douglas R.
- Arnold, Steven E.
- Miller, Bruce L.
- Trojanowski, John Q.
- Lee, Virginia M.-Y.
- Schellenberg, Gerard D.
- Venue
- Archives of Neurology
- Publisher
- American Medical Association (AMA)
- Published
- 2010-02-01
- Volume
- 67
- Issue
- 2
- Pages
- 161-70
- ISSN
- 0003-9942 (ISSN-L)
- PMC
- PMC2901991
- OpenAlex
- W2117756648
- Cited by
- 190
- References
- 55
- Citations by year
- 2026: 5 · 2025: 12 · 2024: 6 · 2023: 4 · 2022: 5 · 2021: 10 · 2020: 14 · 2019: 8 · 2018: 11 · 2017: 7 · 2016: 20 · 2015: 10 · 2014: 15 · 2013: 18 · 2012: 20
- FWCI
- 12.01
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Archives of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion, other-oa)
- Funders
- National Institute on Aging (P01AG014382, AG008017, AG 14382, P30AG010124, P01AG017586, AG17586, P30AG008017, AG-10124, AG005136-22, P50AG005136, P01AG019724)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- progranulin, GRN mutations, frontotemporal dementia, pathogenic variants, haploinsufficiency, FTLD-U, TDP-43, novel mutations, neurodegenerative diseases, genetic variants, family history
- MeSH terms
- Progranulins, Adolescent, Adult, Aged, Aged, 80 and over, Female, Gene Frequency, Genotype, Humans, Male, Middle Aged, Mutation, Case-Control Studies, Neurodegenerative Diseases, Genetic Predisposition to Disease, RNA Splice Sites, Ubiquitin, Intercellular Signaling Peptides and Proteins, Young Adult
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