Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS by Chow Clement Y, Landers John E, Bergren Sarah K, Sapp Peter C, Grant Adrienne E, Jones Julie M, Everett Lesley, Lenk Guy M, McKenna-Yasek Diane M, Weisman Lois S, Figlewicz Denise, Brown Robert H, Meisler Miriam H in American journal of human genetics (2009).

[PMID: 19118816] PubMed


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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