The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34
Open accessAbstract
We performed genetic mapping studies of an 11-generation pedigree with an autosomal dominant, juvenile-onset motor-systems disease. The disorder is characterized by slow progression, distal limb amyotrophy, and pyramidal tract signs associated with severe loss of motor neurons in the brain stem and spinal cord. The gene for this disorder, classified as a form of juvenile amyotrophic lateral sclerosis (ALS), is designated "ALS4." We performed a genomewide search and detected strong evidence for linkage of the ALS4 locus to markers from chromosome 9q34. The highest LOD score (Z) was obtained with D9S1847 (Z=18.8, recombination fraction of .00). An analysis of recombinant events identified D9S1831 and D9S164 as flanking markers, on chromosome 9q34, that define an approximately 5-cM interval that harbors the ALS4 gene. These results extend the degree of heterogeneity within familial ALS syndromes, and they implicate a gene on chromosome 9q34 as critical for motor-neuron function.
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Cites
Rosen, D. R., Siddique, T., Patterson, D., Figlewicz, D. A., Sapp, P., Hentati, A., Donaldson, D., Goto, J., O'Regan, J. P., Deng, H.-X., et al. (1993) · Nature · doi:10.1038/362059a0 · Cited by 7,062
Cited by
ALS: A Disease of Motor Neurons and Their Nonneuronal Neighbors
Boillée, S., Vande Velde, C., & Cleveland, D. W. (2006) · Neuron · doi:10.1016/j.neuron.2006.09.018 · Cited by 1,429
Molecular biology of amyotrophic lateral sclerosis: insights from genetics
Pasinelli, P., & Brown, R. H. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn1971 · Cited by 1,107
Yang, Y., Hentati, A., Deng, H.-X., Dabbagh, O., Sasaki, T., Hirano, M., Hung, W.-Y., Ouahchi, K., Yan, J., Azim, A. C., et al. (2001) · Nature Genetics · doi:10.1038/ng1001-160 · Cited by 743
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
Hadano, S., Hand, C. K., Osuga, H., Yanagisawa, Y., Otomo, A., Devon, R. S., Miyamoto, N., Showguchi-Miyata, J., Okada, Y., Singaraja, R., et al. (2001) · Nature Genetics · doi:10.1038/ng1001-166 · Cited by 678
Julien, J.-P. (2001) · Cell · doi:10.1016/s0092-8674(01)00244-6 · Cited by 434
Metadata
- Authors
- Chance, P. F., Rabin, B. A., Ryan, S. G., Ding, Y., Scavina, M., Crain, B., Griffin, J. W., & Cornblath, D. R.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 1998-03
- Volume
- 62
- Issue
- 3
- Pages
- 633-640
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W1968068652
- Cited by
- 191
- References
- 1
- FWCI
- 10.62
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Chance, P. F., Rabin, B. A., Ryan, S. G., Ding, Y., Scavina, M., Crain, B., Griffin, J. W., & Cornblath, D. R. (1998). Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34. The American Journal of Human Genetics. https://doi.org/10.1086/301769
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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