Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis
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 amyo...
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| Published in | Annals of neurology Vol. 54; no. 1; pp. 130 - 134 |
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| Main Authors | , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
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Wiley Subscription Services, Inc., A Wiley Company
01.07.2003
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| Abstract | 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 |
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| AbstractList | 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. 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 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.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. 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 |
| Author | Shaw, Christopher E. Leigh, P. Nigel Cudkowicz, Merit E. Andersen, Peter M. Brown Jr, Robert H. Hayden, Douglas L. Scheffler, Margaret D. Smith, Bradley N. Al-Chalabi, Ammar Parton, Matthew J. Turner, Martin R. Hansen, Valerie K. |
| Author_xml | – sequence: 1 givenname: Ammar surname: Al-Chalabi fullname: Al-Chalabi, Ammar email: ammar@iop.kcl.ac.uk organization: Department of Neurology, Academic Neuroscience Centre, Institute of Psychiatry, King's College London, London, United Kingdom – sequence: 2 givenname: Margaret D. surname: Scheffler fullname: Scheffler, Margaret D. organization: Day Neuromuscular Research Laboratory, MGH East, Charlestown, MA – sequence: 3 givenname: Bradley N. surname: Smith fullname: Smith, Bradley N. organization: Department of Neurology, Academic Neuroscience Centre, Institute of Psychiatry, King's College London, London, United Kingdom – sequence: 4 givenname: Matthew J. surname: Parton fullname: Parton, Matthew J. organization: Department of Neurology, Academic Neuroscience Centre, Institute of Psychiatry, King's College London, London, United Kingdom – sequence: 5 givenname: Merit E. surname: Cudkowicz fullname: Cudkowicz, Merit E. organization: Neurology Clinical Trials Unit, Massachusetts General Hospital, Boston, MA – sequence: 6 givenname: Peter M. surname: Andersen fullname: Andersen, Peter M. organization: Department of Neurology, Umeå University, Umeå, Sweden – sequence: 7 givenname: Douglas L. surname: Hayden fullname: Hayden, Douglas L. organization: General Clinical Research Center, Massachusetts General Hospital, Boston, MA – sequence: 8 givenname: Valerie K. surname: Hansen fullname: Hansen, Valerie K. organization: Department of Neurology, Academic Neuroscience Centre, Institute of Psychiatry, King's College London, London, United Kingdom – sequence: 9 givenname: Martin R. surname: Turner fullname: Turner, Martin R. organization: Department of Neurology, Academic Neuroscience Centre, Institute of Psychiatry, King's College London, London, United Kingdom – sequence: 10 givenname: Christopher E. surname: Shaw fullname: Shaw, Christopher E. organization: Departments of Neurology and Medical and Molecular Genetics, Guy's King's and St. Thomas' School of Medicine Institute of Psychiatry, King's College London, United Kingdom – sequence: 11 givenname: P. Nigel surname: Leigh fullname: Leigh, P. Nigel organization: Department of Neurology, Academic Neuroscience Centre, Institute of Psychiatry, King's College London, London, United Kingdom – sequence: 12 givenname: Robert H. surname: Brown Jr fullname: Brown Jr, Robert H. organization: Day Neuromuscular Research Laboratory, MGH East, Charlestown, MA |
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| Cites_doi | 10.1002/ana.410360205 10.1038/ng1001-160 10.1002/ana.410430225 10.1038/nm0696-696 10.1002/(SICI)1097-4598(199802)21:2<236::AID-MUS12>3.0.CO;2-# 10.1016/0022-510X(94)90187-2 10.1016/0092-8674(95)90172-8 10.1038/nm0295-168 10.1002/ana.410390215 10.1038/ng1001-166 10.1086/340427 10.1038/ng0594-79 10.1038/ng0595-61 10.1038/358502a0 10.1523/JNEUROSCI.11-10-03124.1991 10.1038/365027a0 10.1212/WNL.46.5.1244 10.1016/0022-510X(95)00129-P 10.1046/j.1471-4159.1996.67020525.x |
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| Keywords | Human Nervous system diseases Rodentia Genotype Amyotrophic lateral sclerosis Motor neuron Ciliary neurotrophic factor Homozygosity Survival Vertebrata Phenotype Mammalia Age of onset Mouse Animal Central nervous system disease Degenerative disease Spinal cord disease |
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| References | Giess R, Holtmann B, Braga M, et al. Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene. Am J Hum Genet 2002; 70: 1277-1286. Imura T, Shimohama S, Kawamata J, et al. Genetic variation in the ciliary neurotrophic factor receptor alpha gene and familial amyotrophic lateral sclerosis. Ann Neurol 1998; 43: 275-275. Anand P, Parrett A, Martin J, et al. Regional changes of ciliary neurotrophic factor and nerve growth factor levels in post mortem spinal cord and cerebral cortex from patients with motor disease. Nat Med 1995; 1: 168-172. Takahashi R, Kawamura K, Hu J, et al. Ciliary neurotrophic factor (CNTF) genotypes and CNTF contents in human sciatic nerves as measured by a sensitive enzyme-linked immunoassay. J Neurochem 1996; 67: 525-529. Yang Y, Hentati A, Deng HX, et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001; 29: 160-165. Hadano S, Hand CK, Osuga H, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 2001; 29: 166-173. Miller RG, Petajan JH, Bryan WW, et al. A placebo-controlled trial of recombinant human ciliary neurotrophic (rhCNTF) factor in amyotrophic lateral sclerosis. Ann Neurol 1996; 39: 256-260. Ip NY, Li YP, van de Stadt I, et al. Ciliary neurotrophic factor enhances neuronal survival in embryonic rat hippocampal cultures. J Neurosci 1991; 11: 3124-3134. DeChiara TM, Vejsada R, Poueymirou WT, et al. Mice lacking the CNTF receptor, unlike mice lacking CNTF, exhibit profound motor neuron deficits at birth. Cell 1995; 83: 313-322. Andersen PM, Nilsson P, Ala-Hurula V, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet 1995; 10: 61-66. Sendtner M, Dittrich F, Hughes RA, et al. Actions of CNTF and neurotrophins on degenerating motoneurons: preclinical studies and clinical implications. J Neurol Sci 1994; 124( suppl): 77-83. Sendtner M, Schmalbruch H, Stockli KA, et al. Ciliary neurotrophic factor prevents degeneration of motor neurons in mouse mutant progressive motor neuronopathy. Nature 1992; 358: 502-504. Mitsumoto H, Ikeda K, Holmlund T, et al. The effects of ciliary neurotrophic factor on motor dysfunction in wobbler mouse motor neuron disease. Ann Neurol 1994; 36: 142-148. Takahashi R. Deficiency of human ciliary neurotrophic factor (CNTF) is not causally related to amyotrophic lateral sclerosis (ALS). Clin Neurol 1995; 35: 1543-1545. Giess R, Goetz R, Schrank B, et al. Potential implications of a ciliary neurotrophic factor gene mutation in a German population of patients with motor neuron disease. Muscle Nerve 1998; 21: 236-238. Brooks BR, Cedarbaum JM. A double-blind placebo-controlled clinical trial of subcutaneous recombinant human ciliary neurotrophic factor (rHCNTF) in amyotrophic lateral sclerosis. Neurology 1996; 46: 1244-1249. Aebischer P, Schluep M, Deglon N, et al. Intrathecal delivery of CNTF using encapsulated genetically modified xenogeneic cells in amyotrophic lateral sclerosis patients. Nat Med 1996; 2: 696-699. Orrell RW, King AW, Lane RJ, et al. Investigation of a null mutation of the CNTF gene in familial amyotrophic lateral sclerosis. J Neurol Sci 1995; 132: 126-128. Takahashi R, Yokoji H, Misawa H, et al. A null mutation in the human CNTF gene is not causally related to neurological diseases. Nat Genet 1994; 7: 79-84. Masu Y, Wolf E, Holtmann B, et al. Disruption of the CNTF gene results in motor neuron degeneration. Nature 1993; 365: 27-32. 1994; 124 1995; 83 1996; 39 1991; 11 1995; 35 1995; 10 1992; 358 1994; 36 2002; 70 2001; 29 1996; 46 1995; 132 1995; 1 1996; 2 1998; 43 1998; 21 1994; 7 1993; 365 1996; 67 Ip NY (e_1_2_6_5_2) 1991; 11 e_1_2_6_20_2 e_1_2_6_8_2 e_1_2_6_7_2 e_1_2_6_18_2 e_1_2_6_9_2 e_1_2_6_19_2 e_1_2_6_4_2 e_1_2_6_3_2 e_1_2_6_6_2 e_1_2_6_12_2 Takahashi R (e_1_2_6_14_2) 1995; 35 e_1_2_6_13_2 e_1_2_6_2_2 e_1_2_6_10_2 e_1_2_6_11_2 e_1_2_6_21_2 e_1_2_6_16_2 e_1_2_6_17_2 e_1_2_6_15_2 |
| References_xml | – reference: Andersen PM, Nilsson P, Ala-Hurula V, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet 1995; 10: 61-66. – reference: Sendtner M, Schmalbruch H, Stockli KA, et al. Ciliary neurotrophic factor prevents degeneration of motor neurons in mouse mutant progressive motor neuronopathy. Nature 1992; 358: 502-504. – reference: Takahashi R, Yokoji H, Misawa H, et al. A null mutation in the human CNTF gene is not causally related to neurological diseases. Nat Genet 1994; 7: 79-84. – reference: Hadano S, Hand CK, Osuga H, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 2001; 29: 166-173. – reference: Orrell RW, King AW, Lane RJ, et al. Investigation of a null mutation of the CNTF gene in familial amyotrophic lateral sclerosis. J Neurol Sci 1995; 132: 126-128. – reference: Anand P, Parrett A, Martin J, et al. Regional changes of ciliary neurotrophic factor and nerve growth factor levels in post mortem spinal cord and cerebral cortex from patients with motor disease. Nat Med 1995; 1: 168-172. – reference: Sendtner M, Dittrich F, Hughes RA, et al. Actions of CNTF and neurotrophins on degenerating motoneurons: preclinical studies and clinical implications. J Neurol Sci 1994; 124( suppl): 77-83. – reference: Brooks BR, Cedarbaum JM. A double-blind placebo-controlled clinical trial of subcutaneous recombinant human ciliary neurotrophic factor (rHCNTF) in amyotrophic lateral sclerosis. Neurology 1996; 46: 1244-1249. – reference: Yang Y, Hentati A, Deng HX, et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001; 29: 160-165. – reference: Aebischer P, Schluep M, Deglon N, et al. Intrathecal delivery of CNTF using encapsulated genetically modified xenogeneic cells in amyotrophic lateral sclerosis patients. Nat Med 1996; 2: 696-699. – reference: Takahashi R. Deficiency of human ciliary neurotrophic factor (CNTF) is not causally related to amyotrophic lateral sclerosis (ALS). Clin Neurol 1995; 35: 1543-1545. – reference: Masu Y, Wolf E, Holtmann B, et al. Disruption of the CNTF gene results in motor neuron degeneration. Nature 1993; 365: 27-32. – reference: Giess R, Goetz R, Schrank B, et al. Potential implications of a ciliary neurotrophic factor gene mutation in a German population of patients with motor neuron disease. Muscle Nerve 1998; 21: 236-238. – reference: Imura T, Shimohama S, Kawamata J, et al. Genetic variation in the ciliary neurotrophic factor receptor alpha gene and familial amyotrophic lateral sclerosis. Ann Neurol 1998; 43: 275-275. – reference: Ip NY, Li YP, van de Stadt I, et al. Ciliary neurotrophic factor enhances neuronal survival in embryonic rat hippocampal cultures. J Neurosci 1991; 11: 3124-3134. – reference: Takahashi R, Kawamura K, Hu J, et al. Ciliary neurotrophic factor (CNTF) genotypes and CNTF contents in human sciatic nerves as measured by a sensitive enzyme-linked immunoassay. J Neurochem 1996; 67: 525-529. – reference: Mitsumoto H, Ikeda K, Holmlund T, et al. The effects of ciliary neurotrophic factor on motor dysfunction in wobbler mouse motor neuron disease. Ann Neurol 1994; 36: 142-148. – reference: Giess R, Holtmann B, Braga M, et al. Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene. Am J Hum Genet 2002; 70: 1277-1286. – reference: Miller RG, Petajan JH, Bryan WW, et al. A placebo-controlled trial of recombinant human ciliary neurotrophic (rhCNTF) factor in amyotrophic lateral sclerosis. Ann Neurol 1996; 39: 256-260. – reference: DeChiara TM, Vejsada R, Poueymirou WT, et al. Mice lacking the CNTF receptor, unlike mice lacking CNTF, exhibit profound motor neuron deficits at birth. 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| Snippet | Ciliary neurotrophic factor (CNTF) maintains survival of adult motor neurons. Mice lacking the CNTF gene develop mild, progressive motor neuron loss. In the... Ciliary neurotrophic factor (CNTF) maintains survival of adult motor neurons. Mice lacking the CNTF gene develop mild, progressive motor neuron loss. In the... |
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| SubjectTerms | Adult Age of Onset Aged Aged, 80 and over Alleles Amyotrophic Lateral Sclerosis - epidemiology Amyotrophic Lateral Sclerosis - genetics Amyotrophic Lateral Sclerosis - mortality Biological and medical sciences Ciliary Neurotrophic Factor - genetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Genetic Predisposition to Disease Genotype Humans Male Medical sciences Middle Aged Neurology Phenotype Point Mutation - genetics Survival Rate |
| Title | Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis |
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