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Ciliary neurotrophic factor (CNTF) maintains survival of adult motor neurons. Mice lacking the CNTF gene develop mild, progressive motor neuron loss. In the normal human population, 1 to 2.3% are homozygous for a null allele, and reports suggest this mutant is associated with a younger onset of amyotrophic lateral sclerosis (ALS). We have tested this hypothesis in a study of 400 subjects with ALS and 236 controls. There was no difference in age of onset, clinical presentation, rate of progression, or disease duration for those with one or two copies of the null allele, excluding CNTF as a major disease modifier in ALS.

Original publication

DOI

10.1002/ana.10638

Type

Journal article

Journal

Ann Neurol

Publication Date

07/2003

Volume

54

Pages

130 - 134

Keywords

Adult, Age of Onset, Aged, Aged, 80 and over, Alleles, Amyotrophic Lateral Sclerosis, Ciliary Neurotrophic Factor, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Phenotype, Point Mutation, Survival Rate