TY - JOUR
T1 - Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis
AU - van Vught, Paul W. J.
AU - van Wijk, Joost
AU - Bradley, Ted E. J.
AU - Plasmans, Dagmar
AU - Jakobs, Marja E.
AU - Veldink, Jan H.
AU - de Jong, J. M. B. Vianney
AU - van den Berg, Leonard H.
AU - Baas, Frank
PY - 2007
Y1 - 2007
N2 - 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
AB - 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
U2 - https://doi.org/10.1016/j.nmd.2007.06.006
DO - https://doi.org/10.1016/j.nmd.2007.06.006
M3 - Article
C2 - 17651970
SN - 0960-8966
VL - 17
SP - 964
EP - 967
JO - Neuromuscular disorders
JF - Neuromuscular disorders
IS - 11-12
ER -