The DOI matches its Crossref record; 42 of the 42 references it cites were found in a registry or an index.
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease
Abstract
Alexander disease is a progressive, usually fatal neurological disorder defined by the widespread and abundant presence in astrocytes of protein aggregates called Rosenthal fibers. The disease most often occurs in infants younger than 2 years and has been labeled a leukodystrophy because of an accompanying severe myelin deficit in the frontal lobes. Later onset forms have also been recognized based on the presence of abundant Rosenthal fibers. In these cases, clinical signs and pathology can be quite different from the infantile form, raising the question whether they share the same underlying cause. Recently, we and others have found pathogenic, de novo missense mutations in the glial fibrillary acidic protein gene in most infantile patients examined and in a few later onset patients. To obtain further information about the role of glial fibrillary acidic protein mutations in Alexander disease, we analyzed 41 new patients and another 3 previously described clinically, including 18 later onset patients. Our results show that dominant missense glial fibrillary acidic protein mutations account for nearly all forms of this disorder. They also significantly expand the catalog of responsible mutations, verify the value of magnetic resonance imaging diagnosis, indicate an unexpected male predominance for the juvenile form, and provide insights into phenotype–genotype relations. Ann Neurol 2005;57:310–326
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Cites
Estimate of the Mutation Rate per Nucleotide in Humans
Nachman, M. W., & Crowell, S. L. (2000) · Genetics · doi:10.1093/genetics/156.1.297 · Cited by 1,209
The CpG dinucleotide and human genetic disease
Cooper, D. N., & Youssoufian, H. (1988) · Human Genetics · doi:10.1007/bf00278187 · Cited by 931
Nomenclature for the description of human sequence variations
den Dunnen, J., & Antonarakis, S. (2001) · Human Genetics · doi:10.1007/s004390100505 · Cited by 896
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease
Brenner, M., Johnson, A. B., Boespflug-Tanguy, O., Rodriguez, D., Goldman, J. E., & Messing, A. (2001) · Nature Genetics · doi:10.1038/83679 · Cited by 688
Self-citationαB-crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain
Iwaki, T., Kume-Iwaki, A., Liem, R. K. H., & Goldman, J. E. (1989) · Cell · doi:10.1016/0092-8674(89)90173-6 · Cited by 549
Self-citationFormaldehyde-mediated DNA-protein crosslinking: a probe for in vivo chromatin structures.
Solomon, M. J., & Varshavsky, A. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.19.6470 · Cited by 446
Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis
Rothnagel, J. A., Dominey, A. M., Dempsey, L. D., Longley, M. A., Greenhalgh, D. A., Gagne, T. A., Huber, M., Frenk, E., Hohl, D., & Roop, D. R. (1992) · Science · doi:10.1126/science.257.5073.1128 · Cited by 368
Keratin 16 and keratin 17 mutations cause pachyonychia congenita
McLean, W. H. I., Rugg, E. L., Lunny, D. P., Morley, S. M., Lane, E. B., Swensson, O., Dopping-Hepenstal, P. J. C., Griffiths, W. A. D., Eady, R. A. J., Higgins, C., et al. (1995) · Nature Genetics · doi:10.1038/ng0395-273 · Cited by 341
Alexander disease: diagnosis with MR imaging.
van der Knaap, M. S., Naidu, S., Breiter, S. N., Blasér, S., Stroink, H., Springer, S., Begeer, J. C., Coster, R. V., Barth, P. G., Thomas, N. H., et al. (2001) · PubMed Central · Cited by 338
Self-citationALEXANDER, W. S. (1949) · Brain · doi:10.1093/brain/72.3.373 · Cited by 303
Cited by
Astrocyte–neuron metabolic relationships: for better and for worse
Allaman, I., Bélanger, M., & Magistretti, P. J. (2011) · Trends in Neurosciences · doi:10.1016/j.tins.2010.12.001 · Cited by 639
Seizure‐Promoting Effect of Blood–Brain Barrier Disruption
Marchi, N., Angelov, L., Masaryk, T., Fazio, V., Granata, T., Hernandez, N., Hallene, K., Diglaw, T., Franic, L., Najm, I., et al. (2007) · Epilepsia · doi:10.1111/j.1528-1167.2007.00988.x · Cited by 508
Astrocytes in Neurodegenerative Disease: Table 1.
Phatnani, H., & Maniatis, T. (2015) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a020628 · Cited by 420
Remyelination in the central nervous system
Franklin, R. J. M., Bodini, B., & Goldman, S. A. (2024) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a041371 · Cited by 40
Cerebral blood flow on ECD SPECT in a patient with adult onset Alexander disease
Ito, K., Takeuchi, S., Hasuo, K., Morooka, M., Kubota, K., & Matsuda, H. (2009) · Clinical Nuclear Medicine · doi:10.1097/rlu.0b013e3181bed1ef · Cited by 4
Metadata
- Authors
- Li, R., Johnson, A. B., Salomons, G., Goldman, J. E., Naidu, S., Quinlan, R., Cree, B., Ruyle, S. Z., Banwell, B., D'Hooghe, M., Siebert, J. R., Rolf, C. M., Cox, H., Reddy, A., Gutiérrez‐Solana, L. G., Collins, A., Weller, R. O., Messing, A., van der Knaap, M. S., & Brenner, M.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2005-02-24
- Volume
- 57
- Issue
- 3
- Pages
- 310-326
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2063377136
- Cited by
- 269
- References
- 42
- FWCI
- 6.23
- Type
- journal article
- Language
- en
- Open access
- closed
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- Li, R., Johnson, A. B., Salomons, G., Goldman, J. E., Naidu, S., Quinlan, R., Cree, B., Ruyle, S. Z., Banwell, B., D'Hooghe, M., Siebert, J. R., Rolf, C. M., Cox, H., Reddy, A., Gutiérrez‐Solana, L. G., Collins, A., Weller, R. O., Messing, A., van der Knaap, M. S., & Brenner, M. (2005). Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Annals of Neurology. https://doi.org/10.1002/ana.20406
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