Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis

• Published in: Annals of neurology Vol. 54; no. 1; pp. 130 - 134
• Main Authors: Al-Chalabi, Ammar, Scheffler, Margaret D., Smith, Bradley N., Parton, Matthew J., Cudkowicz, Merit E., Andersen, Peter M., Hayden, Douglas L., Hansen, Valerie K., Turner, Martin R., Shaw, Christopher E., Leigh, P. Nigel, Brown Jr, Robert H.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.07.2003; Willey-Liss
• Subjects: Adult; Age of Onset; Aged; Aged, 80 and over; Alleles; Amyotrophic Lateral Sclerosis - epidemiology; Amyotrophic Lateral Sclerosis - genetics; Amyotrophic Lateral Sclerosis - mortality; Biological and medical sciences; Ciliary Neurotrophic Factor - genetics; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Genetic Predisposition to Disease; Genotype; Humans; Male; Medical sciences; Middle Aged; Neurology; Phenotype; Point Mutation - genetics; Survival Rate; Human; Nervous system diseases; Rodentia; Genotype; Amyotrophic lateral sclerosis; Motor neuron; Ciliary neurotrophic factor; Homozygosity; Survival; Vertebrata; Phenotype; Mammalia; Age of onset; Mouse; Animal; Central nervous system disease; Degenerative disease; Spinal cord disease
• ISSN: 0364-5134; 1531-8249
• DOI: 10.1002/ana.10638

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. Ann Neurol 2003;54:130–134