Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS
Open accessAbstract
Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P(2) are responsible for the recessive peripheral-nerve disorder CMT4J. We now describe nonsynonymous variants of FIG4 in 2% (9/473) of patients with amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS). Heterozygosity for a deleterious allele of FIG4 appears to be a risk factor for ALS and PLS, extending the list of known ALS genes and increasing the clinical spectrum of FIG4-related diseases.
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Inefficient myelinophagy may result in the loss of motor neurons and muscle atrophy.
“suggesting that inefficient myelinophagy may result in the loss of motor neurons and muscle atrophy.”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [470]
Autosomal dominant FIG4 mutations are associated with rare forms of familial ALS.
“Autosomal dominant FIG4 mutations are associated with rare forms of familial ALS [470],”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [470]
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References 20 · Cited by 407
- Authors
- Chow, C. Y., Landers, J. E., Bergren, S. K., Sapp, P. C., Grant, A. E., Jones, J. M., Everett, L., Lenk, G. M., McKenna-Yasek, D. M., Weisman, L. S., Figlewicz, D., Brown, R. H., & Meisler, M. H.
- Affiliations
- University of Michigan (US)
- University of Massachusetts Chan Medical School (US)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Meisler, Miriam H.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2009-01
- Volume
- 84
- Issue
- 1
- Pages
- 85-88
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC2668033
- OpenAlex
- W1603758951
- Cited by
- 407
- References
- 20
- Citations by year
- 2026: 12 · 2025: 16 · 2024: 14 · 2023: 13 · 2022: 21 · 2021: 21 · 2020: 32 · 2019: 23 · 2018: 28 · 2017: 30 · 2016: 24 · 2015: 28 · 2014: 28 · 2013: 34 · 2012: 27
- FWCI
- 17.22
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion, cc-by)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion, cc-by-nc)
- Funders
- National Institutes of Health (GM24872, NS050557, NS050641, NS064015, T32 GM007544)
- Amyotrophic Lateral Sclerosis Association
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- FIG4, amyotrophic lateral sclerosis, primary lateral sclerosis, phosphoinositide phosphatase, PI(3,5)P2, non-synonymous mutations, deleterious mutations, heterozygous carriers, genetic risk factors, ALS gene
- MeSH terms
- Adult, Aged, Amino Acid Sequence, Amyotrophic Lateral Sclerosis, Flavoproteins, Heterozygote, Humans, Middle Aged, Molecular Sequence Data, Mutation, Phosphoric Monoester Hydrolases, Motor Neuron Disease, Genetic Predisposition to Disease
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