Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS

Am J Hum Genet. 2009 Jan;84(1):85-8. doi: 10.1016/j.ajhg.2008.12.010.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Amino Acid Sequence
  • Amyotrophic Lateral Sclerosis / genetics*
  • Flavoproteins / genetics*
  • Genetic Predisposition to Disease*
  • Heterozygote
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Motor Neuron Disease / genetics
  • Mutation
  • Phosphoric Monoester Hydrolases


  • Flavoproteins
  • FIG4 protein, human
  • Phosphoric Monoester Hydrolases