White matter changes associated with deletions of the long arm of chromosome 18 (18q- syndrome): A dysmyelinating disorder?

American Journal of Neuroradiology

Volumn 17, Issue 10, 1996, Pages 1843-1848

  Loevner, Laurie A ^a   Shapiro, Raymond M ^a   Grossman, Robert I ^a   Overhauser, Joan ^b   Kamholz, John ^c  

^a HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Brain, magnetic resonance; Chromosomes; Demyelinating disease; White matter, abnormalities and anomalies

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BRAIN ATROPHY; CHILD; CHROMOSOME 18Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CLINICAL ARTICLE; DEMYELINATING DISEASE; DIAGNOSTIC IMAGING; DISEASE ASSOCIATION; HUMAN; IMAGE ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; WHITE MATTER;

ADOLESCENT; ADULT; BRAIN; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 18; DEMYELINATING DISEASES; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED;

EID: 0029844417     PISSN: 01956108     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (34)

1. de Grouchy J, Royer P, Salmon C, Lamy M. Délétion partielle des bras longs du chromosome 18. Pathol Biol 1964;12:579-582
2. Lejeune J, Berger R, Lafourcade J, Rethore MO. La délétion du bras long du chromosome 18. Individualisation d'un nouvel état morbide. Ann Genet 1966;9:32-38
3. Miller G, Mowrey PN, Hopper KD, Frankel CA, Ladda RL. Neurologic manifestations in 18q- syndrome. Am J Med Genet 1990; 37:128-132
4. Lewkonia RM, Lin CC, Haslam RHA. Selective IgA deficiency with 18q+ and 18q- karyotypic anomalies. J Med Genet 1980;17: 453-456
5. Fraccaro M, Hulten M, Ivemark BI, Lindsten J, Tiepolo L, Zetterqvist P. Structural abnormalities of chromosome 18: a case of 18q-, with autopsy findings. Ann Genet 1971;14:275-280
6. Felding I, Kristofferson U, Sjöström, Norén O. Contribution to the 18q-syndrome: a patient with del (18) (q22.3qter). Clin Genet 1987;31:206-210
7. Weiss BJ, Kamholz J, Ritter A, et al. Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion. Ann Neurol 1991;30:419-423
8. Kline AD, White ME, Wapner R, et al. Molecular analysis of the 18q- syndrome and correlation with phenotype. Am J Hum Genet 1993;52:895-906
9. Ono J, Harada K, Yamamoto T, Onoe S, Okada S. Delayed myelination in a patient with 18q- syndrome. Pediatr Neurol 1994;11:64-67
10. Grossman RI, Gonzalez-Scarano F, Atlas SW, Galetta S, Silberberg DH. Multiple sclerosis: gadolinium enhancement in MR imaging. Radiology 1986;161:721-725
11. Paty DW. Magnetic resonance imaging in demyelination. In: Kim SU, ed. Myelination and Demyelination: Implications for Multiple Sclerosis. New York, NY: Plenum; 1987:259-272
12. Jackson JA, Leake DR, Schneiders NJ, et al. Magnetic resonance imaging in multiple sclerosis: results in 32 cases. AJNR Am J Neuroradiol 1985;6:171-176
13. Strathdee G, Zackai EH, Shapiro R, Kamholz, Overhauser J. Analysis of the clinical variation seen in patients with 18q- terminal deletions. Am J Med Genet 1995;59:476-483
14. Brismar J, Brismar G, Gascone G, Oznan P. Canavan disease: CT and MR imaging of the brain. AJNR Am J Neuroradiol 1990;11: 805-810
15. Becker LE. Lysosomes, peroxisomes, and mitochondria: function and disorder. AJNR Am J Neuroradiol 1992;13:621-653
16. Van der Knaap MS, Valk J. MR of adrenoleukodystrophy: histopathologic correlations. AJNR Am J Neuroradiol 1989;10:512-514
17. Van der Knaap, Valk J, deNeeling N, Nauta JJP. Pattern recognition in magnetic resonance imaging of white matter disorders in children and young infants. Neuroradiology 1991;33:478-493
18. Kendall BE. Disorders of lysosomes, peroxisomes, and mitochondria. AJNR Am J Neuroradiol 1992;13:621-653
19. Brody BA, Kinney HC, Kloman AS, Gilles FH. Sequence of central nervous system myelination in human infancy, I: an autopsy study of myelination. J Neuropathol Exp Neurol 1987;46:283-301
20. Kinney HC, Brody BA, Kloman AS, Gilles GH. Sequence of central nervous system myelination in human infancy, II: patterns of myelination in autopsy infants. J Neuropathol Exp Neurol 1988; 47:217-234
21. Ballesteros MC, Hansen PE, Solia K. MR imaging of the developing human brain. Radiographics 1993;13:611-622
22. Barkovich AJ, Lyon G, Evrard P. Formation, maturation and disorders of white matter. AJNR Am J Neuroradiol 1992;13:447-461
23. Bird CR, Hedberg M, Drayer BP, et al. MR assessment of myelination in infants and children: usefulness of marker sites. AJNR Am J Neuroradiol 1989;10:731-740
24. Wertelecki W, Gerald PS. Clinical and chromosomal studies of the 18q- syndrome. J Pediatr 1971;78:44-52
25. Wilson MG, Towner JW, Forsman I, Siris E. Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. Am J Med Genet 1979;3:155-174
26. Fryns JP, Logghe N, Van Eygin M, Van den Berghe H. 18q-syndrome in mother and daughter. Eur J Pediatr 1979;130:189-192
27. Vogel H, Urich H, Horoupian DS, Werteleck W. The brain in the 18q- syndrome. Dev Med Child Neurol 1990;32:725-742
28. Insley J. Syndrome associated with a deficiency of part of the long arm of chromosome no. 18. Arch Dis Child 1967;42:140-146
29. Rutledge JN, Hilal SK, Silver AJ, Defendini R, Fahn S. Study of movement disorders and brain iron by MR. AJNR Am J Neuroradiol 1987;8:397-411
30. Milton WJ, Atlas SW, Lexa FJ, Mozley PD, Gur RE. Deep gray matter hypointensity patterns with aging in healthy adults: MR imaging at 1.5 T. Radiology 1991;181:715-719
31. Drayer BP, Burger P, Hurwitz B, Dawson D, Cain J. Reduced signal intensity on MR images of thalamus and putamen in mul-tiple sclerosis: increased iron content? AJNR Am J Neuroradiol 1987;8:413-419
32. Shine HD, Readhead C, Popko B, Hood L, Sidman RL. Morphometric analysis of normal, mutant, and transgenic central nervous system: correlation of myelin basic protein expression to myelinogenesis. J Neurochem 1992;58:342-349
33. Shine HD, Readhead C, Popko B, Hood L, Sidman RL. Myelin basic protein and myelinogenesis: morphometric analysis of normal, mutant, and transgenic central nervous system. Prog Clin Biol Res 1990;336:81-92
34. Rosenbluth J. Central myelin in the mouse mutant shiverer. J Comp Neurol 1980;194:639-648