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...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
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2003
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| _version_ | 1797100180345978880 |
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| author | Al-Chalabi, A Scheffler, MD Smith, B Parton, M Cudkowicz, M Andersen, P Hayden, D Hansen, V Turner, M Shaw, C Leigh, P Brown, R |
| author_facet | Al-Chalabi, A Scheffler, MD Smith, B Parton, M Cudkowicz, M Andersen, P Hayden, D Hansen, V Turner, M Shaw, C Leigh, P Brown, R |
| author_sort | Al-Chalabi, A |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-07T05:34:05Z |
| format | Journal article |
| id | oxford-uuid:e34255ea-8541-48fd-b2f6-be374fa7307f |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T05:34:05Z |
| publishDate | 2003 |
| record_format | dspace |
| spelling | oxford-uuid:e34255ea-8541-48fd-b2f6-be374fa7307f2022-03-27T10:07:55ZCiliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:e34255ea-8541-48fd-b2f6-be374fa7307fEnglishSymplectic Elements at Oxford2003Al-Chalabi, AScheffler, MDSmith, BParton, MCudkowicz, MAndersen, PHayden, DHansen, VTurner, MShaw, CLeigh, PBrown, RCiliary 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. |
| spellingShingle | Al-Chalabi, A Scheffler, MD Smith, B Parton, M Cudkowicz, M Andersen, P Hayden, D Hansen, V Turner, M Shaw, C Leigh, P Brown, R Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis. |
| title | Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis. |
| title_full | Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis. |
| title_fullStr | Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis. |
| title_full_unstemmed | Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis. |
| title_short | Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis. |
| title_sort | ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis |
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