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Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS |
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| Authors: | Clement Y Chow John E Landers Sarah K Bergren Peter C Sapp Adrienne E Grant Julie M Jones Lesley Everett Guy M Lenk Diane M McKenna-Yasek Lois S Weisman Denise Figlewicz Robert H Brown and Miriam H Meisler |
| Institution: | 1 Department of Human Genetics, University of Michigan, Ann Arbor MI 48109, USA 2 Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Boston, MA 02114, USA 3 Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA 4 Department of Cell and Developmental Biology, University of Michigan, Ann Arbor MI 48109, USA 5 Life Sciences Institute, University of Michigan, Ann Arbor MI 48109, USA 6 Department of Neurology, University of Michigan, Ann Arbor MI 48109, USA 7 Howard Hughes Medical Institute, Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA |
| Abstract: | 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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