Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
case_control · Level III
Where this comes from
- Record sourced from PubMed, PMID 19118816.
- Also identified by DOI 10.1016/j.ajhg.2008.12.010 and PMC identifier 2668033.
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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.
Medical subject headings
- Amyotrophic Lateral Sclerosis
- Flavoproteins
- Genetic Predisposition to Disease