Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

• Main Authors: Chow, Clement Y. (Author), Landers, John E. (Author), Bergren, Sarah K. (Author), Sapp, Peter C. (Contributor), Grant, Adrienne E. (Author), Jones, Julie M. (Author), Everett, Lesley (Author), Lenk, Guy M. (Author), McKenna-Yasek, Diane M. (Author), Weisman, Lois S. (Author), Figlewicz, Denise (Author), Brown, Robert H. (Author), Meisler, Miriam H. (Author)
• Other Authors: Massachusetts Institute of Technology. Department of Biology (Contributor)
• Format: Article
• Language: English
• Published: Elsevier B.V., 2015-04-02T20:28:32Z.
• Subjects: Article
• Online Access: Get fulltext

Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P2 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.
Howard Hughes Medical Institute (Investigator)
National Institutes of Health (U.S.) (grant GM24872)
National Institutes of Health (U.S.) (grant NS050557)
National Institutes of Health (U.S.) (grant NIH NS050557)
National Institutes of Health (U.S.) (grant NIH NS050641)
National Institutes of Health (U.S.) (grant NIH T32 GM007544)
Pierre L. de Bourgknecht ALS Research Foundation
Project ALS Foundation
Angel Fund