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

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Neuromuscul Disord. 2007 Jul 23

Ciliary neurotrophic factor null alleles are not a risk factor for

Charcot-Marie-Tooth disease, hereditary neuropathy with pressure

palsies in amyotrophic lateral sclerosis.

Van Vught PW, Van Wijk J, Bradley TE, Plasmans D, Jakobs ME, Veldink

JH, de Jong JM, Van den Berg LH, Baas F.

Rudolf Magnus Institute of Neuroscience, Department of Neurology,

University Medical Center Utrecht, Utrecht, The Netherlands.

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.