title: Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
abstract: 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.
authors.affiliation: Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
authors.forename: Clement Y
authors.initials: CY
authors.lastname: Chow
authors.forename: John E
authors.initials: JE
authors.lastname: Landers
authors.forename: Sarah K
authors.initials: SK
authors.lastname: Bergren
authors.forename: Peter C
authors.initials: PC
authors.lastname: Sapp
authors.forename: Adrienne E
authors.initials: AE
authors.lastname: Grant
authors.forename: Julie M
authors.initials: JM
authors.lastname: Jones
authors.forename: Lesley
authors.initials: L
authors.lastname: Everett
authors.forename: Guy M
authors.initials: GM
authors.lastname: Lenk
authors.forename: Diane M
authors.initials: DM
authors.lastname: McKenna-Yasek
authors.forename: Lois S
authors.initials: LS
authors.lastname: Weisman
authors.forename: Denise
authors.initials: D
authors.lastname: Figlewicz
authors.forename: Robert H
authors.initials: RH
authors.lastname: Brown
authors.forename: Miriam H
authors.initials: MH
authors.lastname: Meisler
mesh_terms: D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D005420:Flavoproteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D016472:Motor Neuron Disease / Q000235:genetics; D009154:Mutation; D010744:Phosphoric Monoester Hydrolases
chemical_list: D005420:Flavoproteins; C522215:FIG4 protein, human; D010744:Phosphoric Monoester Hydrolases