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Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis
Author(s) -
AlChalabi Ammar,
Scheffler Margaret D.,
Smith Bradley N.,
Parton Matthew J.,
Cudkowicz Merit E.,
Andersen Peter M.,
Hayden Douglas L.,
Hansen Valerie K.,
Turner Martin R.,
Shaw Christopher E.,
Leigh P. Nigel,
Brown Robert H.
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10638
Subject(s) - ciliary neurotrophic factor , amyotrophic lateral sclerosis , motor neuron , age of onset , neurotrophic factors , allele , genotype , population , brain derived neurotrophic factor , medicine , neuroscience , biology , disease , genetics , gene , receptor , environmental health
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. Ann Neurol 2003;54:130–134