Ciliary neurotrophic factor null alleles are not a risk factor for CMT, HNPP, AL

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Ciliary neurotrophic factor null alleles are not a risk factor for

Charcot-Marie-Tooth disease, hereditary neuropathy with pressure

palsies and amyotrophic lateral sclerosis

http://www.nmd-journal.com/article/PIIS0960896607001940/abstract

W.J. Van Vughtb1, Joost Van Wijka1, Ted E.J. Bradleya, Dagmar

Plasmansa, Marja E. Jakobsa, Jan H. Veldinkb, J.M.B.Vianney de

Jonga, Leonard H. Van den Bergb, Baasa

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.

a Department of Neurogenetics, Academic Medical Center, Meibergdreef

9, 1105 AZ, Amsterdam, The Netherlands

b Rudolf Magnus Institute of Neuroscience, Department of Neurology,

University Medical Center Utrecht, Utrecht, The Netherlands

These authors contributed equally to this work.