From enigmatic to problematic: The new molecular genetics of childhood spinal muscular atrophy

Neurology

Volumn 46, Issue 2, 1996, Pages 335-340

  Crawford, Thomas O ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL SURVIVAL; CHILD; CHILDHOOD DISEASE; CHROMOSOME 5; DUCHENNE MUSCULAR DYSTROPHY; GENE DOSAGE; GENE EXPRESSION; GENE MUTATION; HUMAN; MOLECULAR GENETICS; MOTONEURON; PRIORITY JOURNAL; REVIEW; SPINAL MUSCULAR ATROPHY;

EID: 0030007199     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.46.2.335     Document Type: Review

References (54)

1. 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.
2. Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy determining gene. Cell 1995; 80:155-165.
3. Thompson TG, DiDonato CJ, Simard LR, et al. A novel cDNA detects homozygous microdeletions in greater than 50% of type 1 spinal muscular atrophy patients. Nat Genet 1995; 9:56-62.
4. Pearn JH, Carter CO, Wilson J. The genetic identity of acute infantile spinal muscular atrophy. Brain 1973; 96:463-470.
5. Munsat TL, Skerry L, Korf B, et al. Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2-13.3. Neurology 1990; 40:1831-1836.
6. Burghes AHM, Ingraham SE, Kóte-Jarai Z, et al. Linkage mapping of the spinal muscular atrophy gene. Hum Genet 1994; 93:305-312.
7. Müller B, Melki J, Burlet P, Clerget-Darpoux F. Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q. Am J Hum Genet 1992; 50:892-895.
8. Dubowitz V. Chaos in classification of the spinal muscular atrophies of childhood. Neuromuscul Disord 1991; 1:77-80.
9. 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.
10. Melki J, Abdelhak S, Sheth P, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990; 344:767-768.
11. Gilliam TC, Brzustowicz LM, Castilla LH, et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 1990; 345:823-825.
12. Melki J, Sheth P, Abdelhak S, et al. Mapping of acute (type 1) spinal muscular atrophy to chromosome 5q12-q14. Lancet 1990; 336:271-273.
13. Carpten JD, DiDonato J, Ingraham SE, et al. A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region. Genomics 1994; 24:351-356.
14. Cobben JM, Scheffer H, Visser M de, et al. Linkage and apparent heterogeneity in proximal spinal muscular atrophies. Neuromuscul Disord 1993; 3:327-333.
15. Brahe C, Velonà I, Steege G van der, et al. Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis. Hum Genet 1994; 93:494-501.
16. Francis MJ, Morrison KE, Campbell L, et al. A contig of non-chimeric YACs containing the spinal muscular atrophy gene in 5q-13. Hum Mol Genet 1993; 2:1161-1167.
17. Theodosiou AM, Morrison KE, Nesbit AM, et al. Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13. Am J Hum Genet 1994; 55:1209-1217.
18. Brzustowicz LM, Kleyn P, Boyce FM, et al. Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6. Genomics 1992; 13:991-998.
19. Soares VM, Brzustowicz LM, Kleyn PW, et al. Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B. Genomics 1993; 15:365-371.
20. Wang CH, Kleyn PW, Vitale E, et al. Refinement of the spinal muscular atrophy locus by genetic and physical mapping. Am J Hum Genet 1995; 56:202-209.
21. Kleyn PW, Wang CH, Lien LL, et al. Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region. Proc Natl Acad Sci USA 1993; 90:6801-6805.
22. MacKenzie A, Roy N, Besner A, et al. Genetic linkage analysis of Canadian spinal muscular atrophy kindreds using flanking microsatellite 5q13 polymorphisms. Hum Genet 1993; 90:501-504.
23. Clermont O, Burlet P, Bürglen L, et al. Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers. Am J Hum Genet 1994; 54:687-694.
24. Melki J, Lefebvre S, Bürglen L, et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophy. Science 1994; 264:1474-1477.
25. DiDonato CJ, Morgan K, Carpten JD, et al. Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am J Hum Genet 1994; 55:1218-1229.
26. Thompson TG, Morrison KE, Kleyn P, et al. High resolution physical map of the region surrounding the spinal muscular atrophy gene. Hum Mol Genet 1993; 2:1169-1176.
27. Wirth B, Pick E, Dadze A, et al. Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3. Genomics 1994; 20:84-93.
28. Wirth B, Voosen B, Röhrig D, et al. Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies. Genomics 1993; 15:113-118.
29. Burghes AHM, Ingraham SE, McLean M, et al. A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene. Genomics 1994; 21:394-402.
30. Daniels RJ, Campbell L, Rodrigues NR, et al. Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele. J Med Genet 1995; 32:93-96.
31. Emery AEH. Population frequencies of inherited neuromuscular diseases - a world summary. Neuromuscul Disord 1991; 1:19-29.
32. Cobben JM, Steege G van der, Grootscholten P, Visser M de, Scheffer H, Buys CHCM. Deletions of the survival motor neuron gene (SMN) in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 1995;57:805-808.
33. Lewin B. Genes for SMA: multum in parvo. Cell 1995; 80:1-5.
34. Higashi Y, Tanae A, Inoue H, Fujii-Kuriyama Y. Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450 (C21) gene: implications for steroid 21-hydroxylase deficiency. Am J Hum Genet 1988; 42:17-25.
35. Miller WL. Genetics, diagnosis and management of 21-hydroxylase deficiency. J Clin Endocrinol Metab 1994; 78:241-246.
36. Bristow J, Tee MK, Gitelman SE, et al. Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B. J Cell Biol 1993; 122:265-278.
37. Sarnat HB. Commentary: research strategies in spinal muscular atrophy. In: Gamstorp I, Sarnat HB, eds. Progressive spinal muscular atrophies. New York: Raven Press, 1984:233.
38. Dubowitz V. Infantile muscular atrophy: a prospective study with particular reference to a slowly progressive variety. Brain 1964; 87:707-718.
39. Iannaccone ST, Brown RH, Samaha FJ, Buncher CR. Prospective study of spinal muscular atrophy before age 6 years. Pediatr Neurol 1993; 9:187-193.
40. Koller WC. When does Parkinson's disease begin? Neurology 1992; 42(Suppl 4):27-31.
41. Eisen AA, Caine DB. Latent neuro-abiotrophies: a clue to amyotrophic lateral sclerosis. In: Hudson AJ, ed. Amyotrophic lateral sclerosis: concepts in pathogenesis and etiology. Toronto: University of Toronto Press, 1990: 296-316.
42. Hausmanowa-Petrusewicz I, Fidziańska A. Spinal muscular atrophy: foetal-like histopathological pattern in Werdnig-Hoffmann disease. Bull NY Acad Med 1974; 50:1157-1172.
43. Hausmanowa-Petrusewicz I, Fidziańska A, Niebrój-Dobosz I, Strugalska MH. Is Kugelberg-Welander spinal muscular atrophy a fetal defect? Muscle Nerve 1980; 3:389-402.
44. Fidziańska A. Ultrastructural changes in muscle in spinal muscular atrophy - Werdnig-Hoffmann's disease. Acta Neuropathol (Berl) 1974; 27:247-256.
45. Hausmanowa-Petrusewicz I. Electrophysiological findings in childhood spinal muscular atrophies. Rev Neurol (Paris) 1988; 144:716-720.
46. Schmalbruch H. Growth and denervation response of skeletal muscle fibers of newborn rats. Muscle Nerve 1990; 13:421-432.
47. Munsat TL. International SMA collaboration. Neuromuscul Disord 1991; 1:81.
48. Steege G van der, Grootscholten PM, Vlies P van der. PCR-based test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995; 345:985-986.
49. Rodrigues NR, Campbell L, Owen N, Rodeck CH, Davies KE. Prenatal diagnosis of spinal muscular atrophy by gene deletion analysis. Lancet 1995; 345:1049.
50. Capon F, Cicerro SL, Levato C, Novelli G, Dallapiccola B. De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy. Prenat Diagn 1995; 15:93-94.
51. Evans BA, Richards RI. Genes for the α and γ subunits of mouse nerve growth factor are contiguous. EMBO J 1985; 4:133-138.
52. Erickson JD, Varoqui H, Schäfer MK-H, et al. Functional identification of a vesicular acetylcholine transporter and its expression from a "cholinergic" gene locus. J Biol Chem 1994; 269:21929-21932.
53. Bejanin S, Cervini R, Mallet J, Berrard S. A unique gene organization for two cholinergic markers, choline acetyltransferase and a putative vesicular transporter of acetylcholine. J Biol Chem 1994; 269:21944-21947.
54. Mahadevan MS, Korneluk RG, Roy N, MacKenzie AE. SMA genes duplicated and deleted. Nat Genet 1995; 9:112-113.