Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease

• Published in: American journal of human genetics Vol. 82; no. 3; pp. 780 - 785
• Main Authors: Rainier, Shirley, Bui, Melanie, Mark, Erin, Thomas, Donald, Tokarz, Debra, Ming, Lei, Delaney, Colin, Richardson, Rudy J., Albers, James W., Matsunami, Nori, Stevens, Jeff, Coon, Hilary, Leppert, Mark, Fink, John K.
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.03.2008; University of Chicago Press; Cell Press; Elsevier
• Subjects: Amino Acid Sequence; Axons - physiology; Biological and medical sciences; Brain diseases; Carboxylic Ester Hydrolases - genetics; Cerebrospinal fluid. Meninges. Spinal cord; Chromosome Mapping; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes; Genetic Linkage; Genetics of eukaryotes. Biological and molecular evolution; Humans; Male; Medical genetics; Medical sciences; Molecular and cellular biology; Molecular Sequence Data; Motor Neuron Disease - genetics; Mutation; Nervous system (semeiology, syndromes); Neurology; Neurons; Pedigree; Polymorphism; Human; Nervous system diseases; Enzyme; Motor neuron disease; Esterases; Neuropathy; Gene; Central nervous system disease; Hydrolases; Genetics; Degenerative disease; Mutation; Spinal cord disease

The possibility that organophosphorus (OP) compounds contribute to motor neuron disease (MND) is supported by association of paraoxonase 1 polymorphisms with amyotrophic lateral sclerosis (ALS) and the occurrence of MND in OP compound-induced delayed neuropathy (OPIDN), in which neuropathy target es...