Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS
- 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.
Publication date
January 2009
DOI Publisher
The American Society of Human Genetics. Published by Elsevier Inc. ISSN
0002-9297 Citation count (estimate)
215Abstract
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
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