Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: Homozygous NAIP deletion in a sporadic case

Annals of Neurology

Volumn 39, Issue 6, 1996, Pages 796-800

  Jackson, Mandy ^a   Morrison, Karen E ^a   Al Chalabi, Ammar ^b   BaKker, Martijn ^b   Leigh, Peter N ^b  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT; SUPEROXIDE DISMUTASE;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 5Q; CHROMOSOME ANALYSIS; GENE DELETION; GENE MAPPING; GENETIC CODE; HUMAN; HUMAN TISSUE; MOTOR SYSTEM; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINAL MUSCULAR ATROPHY;

AMYOTROPHIC LATERAL SCLEROSIS; APOPTOSIS; BLOTTING, SOUTHERN; CHROMOSOMES, HUMAN, PAIR 5; DNA PRIMERS; EXONS; GENE AMPLIFICATION; GENE DELETION; GENOME; HOMOZYGOTE; HUMANS; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 0029943383     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410390616     Document Type: Article

References (30)

1. Martin JE, Swash M. The pathology of motor neuron disease. In: Leigh PN, Swash M, eds. Motor neuron disease: biology and management. London: Springer-Verlag, 1995:93-118
2. Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/ Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993;362:59-62
3. Deng H-X, Hentati A, Tainer JA, et al. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science 1993;261:1047-1051
4. Morrison KE. Mechanisms in motor neurone disease: clues from genetic studies. Mol Med Today 1995;1:195-201
5. Jones CT, Swingler RJ, Simpson SA, Brock DJH. Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. J Med Genet 1995;32:290-292
6. Leigh PN, Garofalo O. The molecular pathology of motor neuron disease. In: Leigh PN, Swash M, eds. Motor neuron disease: biology and management. London: Springer-Verlag, 1995:139-161
7. Xu Z, Cork LC, Griffin JW, Cleveland DW. Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease. Cell 1993;73:23-33
8. Côté F, Collard J-F, Julien JP. Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis. Cell 1993;73:35-46
9. Lee MK, Marszalek JR, Cleveland DW. A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease. Neuron 1994;13:975-988
10. Collard J-F, Côté F, Julien J-P. Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis. Nature 1995;375:61-64
11. Figlewicz DA, Krizus A, Martinoli MG, et al. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3:1757-1761
12. Dubowitz V. Disorders of the lower motor neurone. In: Dubowitz V, ed. Muscle disorders in childhood. London: WB Saunders, 1978:146-190
13. Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 1990;344:540-541
14. Gilliam TC, Brzustowicz LM, Castilla LH, et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 1990;345:823-825
15. Melki J, Abdelhak S, Sheth P, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990;344:767-768
16. Melki J, Sheth P, Abdelhak S, et al. Mapping of acute (type 1) spinal muscular atrophy to chromosome 5q12-q14. Lancet 1990;326:271-273
17. Roy N, Mahadevan MS, McLean M, et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 1995;80:167-178
18. Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165
19. Thompson, TG, DiDonato CJ, Simard L, et al. A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nature Genet 1995; 9:56-62
20. Lewin B. Genes for SMA: multum in parvo. Cell 1995;80:1-5 (Comment)
21. Gilliam TC. Is the spinal muscular atrophy gene found? Nature Med 1995;1:124-127
22. Harding AE, Bradbury PG, Murray NMF. Chronic assymetrical spinal muscular atrophy. J Neurol Sci 1983;59:69-83
23. Appelbaum JS, Roos RP, Salazar-Grueso EF, et al. Intrafamilial heterogeneity in hereditary motor neuron disease. Neurology 1992;42:1488-1492
24. Camu W, Billiard M. Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family. Muscle Nerve 1993;16:569-570
25. Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. J Neurol Sci 1994;124SS:96-107
26. Rodrigues NR, Owen N, Talbot K, et al. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 1995;4:631-634
27. Cobben JM, van der Steege G, Grootscholten P, et al. Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 1995;57:805-808
28. Rodrigues NR, Owen N, Talbot K, et al. Gene deletions in spinal muscular atrophy. J Med Genet 1996;33:93-96
29. Pearn J. The gene frequency of acute Werdnig-Hoffmann disease (SMA type I): a total population survey in north-east England. J Med Genet 1973;10:260-265
30. Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 1978;15:409-413