Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis
Copyright policy )Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis
AbstractCiliary 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. Ann Neurol 2003;54:130–134
- University of Oxford United Kingdom
- Umeå University Sweden
- Harvard University United States
- Massachusetts General Hospital United States
- King's College London United Kingdom
Adult, Aged, 80 and over, Male, Genotype, Amyotrophic Lateral Sclerosis, 610, Middle Aged, Survival Rate, Phenotype, Humans, Point Mutation, Female, Genetic Predisposition to Disease, Ciliary Neurotrophic Factor, Age of Onset, Alleles, Aged
Adult, Aged, 80 and over, Male, Genotype, Amyotrophic Lateral Sclerosis, 610, Middle Aged, Survival Rate, Phenotype, Humans, Point Mutation, Female, Genetic Predisposition to Disease, Ciliary Neurotrophic Factor, Age of Onset, Alleles, Aged
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