Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis

TY - JOUR

T1 - Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis

AU - Al-Chalabi, A

AU - Scheffler, M D

AU - Smith, B N

AU - Parton, M J

AU - Cudkowicz, M E

AU - Andersen, P M

AU - Hayden, D L

AU - Hansen, V K

AU - Turner, M R

AU - Shaw, C E

AU - Leigh, P N

AU - Brown, R H

PY - 2003/7/1

Y1 - 2003/7/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0038799979&partnerID=8YFLogxK

U2 - 10.1002/ana.10638

DO - 10.1002/ana.10638

M3 - Article

VL - 54

SP - 130

EP - 134

JO - Annals of Neurology

JF - Annals of Neurology

IS - 1

ER -