title: Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis.
abstract: 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.
authors.affiliation: Department of Neurology, Academic Neuroscience Centre, Institute of Psychiatry, King's College London, London, United Kingdom. ammar@iop.kcl.ac.uk
authors.forename: Ammar
authors.initials: A
authors.lastname: Al-Chalabi
authors.forename: Margaret D
authors.initials: MD
authors.lastname: Scheffler
authors.forename: Bradley N
authors.initials: BN
authors.lastname: Smith
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Parton
authors.forename: Merit E
authors.initials: ME
authors.lastname: Cudkowicz
authors.forename: Peter M
authors.initials: PM
authors.lastname: Andersen
authors.forename: Douglas L
authors.initials: DL
authors.lastname: Hayden
authors.forename: Valerie K
authors.initials: VK
authors.lastname: Hansen
authors.forename: Martin R
authors.initials: MR
authors.lastname: Turner
authors.forename: Christopher E
authors.initials: CE
authors.lastname: Shaw
authors.forename: P Nigel
authors.initials: PN
authors.lastname: Leigh
authors.forename: Robert H
authors.initials: RH
authors.lastname: Brown
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology* / Q000235:genetics* / Q000401:mortality; D020934:Ciliary Neurotrophic Factor / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D015996:Survival Rate
chemical_list: D020934:Ciliary Neurotrophic Factor