title: Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis.
abstract: Growth factors, such as ciliary neurotrophic factor (CNTF), have been implicated in neuronal survival and proliferation. About 2% of the human population is homozygous for a polymorphism that induces truncated and biologically inactive CNTF but does not obviously change the phenotype. In a population of patients with hereditary neuropathy, a higher rate of the CNTF null mutation would indicate greater susceptibility for clinically significant disease, and a recent report attributes early onset and rapid deterioration in a case of familial ALS (FALS) to this mutation. We have, therefore, genotyped the CNTF polymorphism in a large group of patients with CMT 1a, HNPP, sporadic ALS, in one pedigree with FALS, and controls. All groups exhibited a similar distribution of the polymorphism. We conclude that absence of CNTF does not increase susceptibility for these disorders and confirm that it does not affect onset and course of familial and sporadic ALS.
authors.affiliation: Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Paul W J
authors.initials: PW
authors.lastname: Van Vught
authors.forename: Joost
authors.initials: J
authors.lastname: Van Wijk
authors.forename: Ted E J
authors.initials: TE
authors.lastname: Bradley
authors.forename: Dagmar
authors.initials: D
authors.lastname: Plasmans
authors.forename: Marja E
authors.initials: ME
authors.lastname: Jakobs
authors.forename: Jan H
authors.initials: JH
authors.lastname: Veldink
authors.forename: J M B Vianney
authors.initials: JM
authors.lastname: de Jong
authors.forename: Leonard H
authors.initials: LH
authors.lastname: Van den Berg
authors.forename: Frank
authors.initials: F
authors.lastname: Baas
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D020934:Ciliary Neurotrophic Factor / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009426:Netherlands; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics
chemical_list: D020934:Ciliary Neurotrophic Factor