Detailed analysis of the oligodendrocyte myelin glycoprotein gene in four patients with neurofibromatosis 1 and primary progressive multiple sclerosis

Journal of Neurology Neurosurgery and Psychiatry

Volumn 68, Issue 5, 2000, Pages 643-646

  Johnson, M R ^a   Ferner, R E ^a   Bobrow, M ^b   Hughes, R A C ^a  

^a GUY S HOSPITAL   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

Neurofibromatosis 1; Oligodendrocyte myelin glycoprotein; Primary progressive multiple sclerosis

Indexed keywords

ASPARTIC ACID; CELL ADHESION MOLECULE; GLYCINE; GLYCOPROTEIN; MEMBRANE PROTEIN; MYELIN PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANCER GENETICS; CHROMOSOME 17Q; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DNA FLANKING REGION; EXON; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; INTRON; MOLECULAR GENETICS; MULTIPLE SCLEROSIS; MYELINATION; NERVE CELL CULTURE; NEUROFIBROMATOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGODENDROGLIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING; SPASTIC PARAPLEGIA;

ADULT; BASE SEQUENCE; BLOTTING, SOUTHERN; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MULTIPLE SCLEROSIS; MYELIN-ASSOCIATED GLYCOPROTEIN; NEUROFIBROMATOSIS 1; POLYMERASE CHAIN REACTION;

EID: 0034066594     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.68.5.643     Document Type: Article

References (24)

1. Huson SM, Harper PS, Compston DAS. Von Recklinghausen neurofibromatosis: a clinical and population study in south east Wales. Brain 1988;111:1355-81.
2. Ferner RE, Hughes RAC, Weinman J. Intellectual impairment in neurofibromatosis 1. J Neurol Sci 1996;138:125-33.
3. Hughes RAC. Neurological complications. In: Huson SM, Hughes RAC, eds. The neurofibromatoses: a pathogenetic and clinical overview. London: Chapman and Hall, 1994:204-53.
4. Ferner RE, Hughes RA, Johnson MR. Neurofibromatosis 1 and multiple sclerosis. J Neurol Neurosurg Psychiatry 1995; 58:582-5.
5. Creange A, Zeller J, Rostaing-Rigattieri S. et al. Neurological complications of neurofibromatosis type 1 in adulthood. Brain 1999;122:473-481.
6. Shen MH, Harper PS, Upadhyaya M. Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet 1996;33:1-17.
7. Li Ying, O'Connell P, Breidenbach HH, et al. Genomic Organisation of the neurofibromatosis 1 gene (NF1). Genomics 1995;25:9-18.
8. Mikol DD, Gulcher JR, Stefansson K. The oligodendrocyte myelin glycoprotein belongs to a distinct family of proteins and contains the HNK-1 carbohydrate. J Cell Biol 1990;110:471-9.
9. Apostolski S, Sadig SA, Hays A, et al. Identification of Ga-(beta 1-3)GalNAc bearing glycoproteins at the nodes of Ranvier in peripheral nerve. J Neuroscience Res 1994;38: 134-41.
10. Jessel TM. Adhesion molecules and the hierarchy of neural development. Neuron 1988;1:3-13.
11. Quarles RH. Glycoproteins of myelin sheaths. J Mol Neurosci 1997;8:1-12.
12. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manuel, 2nd ed. Cold Spring Harbor: Cold Spring Harbor Lab Press, 1989.
13. Yau SC, Bobrow M, Mathew CG, et al. Accurate diagnosis of carriers of deletions and duplications in Duchenne/ Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 1996;33:550-8.
14. Gibson RA, Buchwald M, Roberts RG, et al. Characterisation of he exon structure of the Fanconi anaemia group C gene by vectorette PCR. Hum Mol Genet 1993;2:35-8.
15. Naylor JA, et al. Detection of three novel mutations in two haemophilia A patients by rapidly screening whole essential regions of the factor VIII gene. Lancet 1991;337:635-9.
16. Roberts RG, Bobrow M, Bentley DR. Point mutations in the dystrophin gene. Proc Natl Acad Sci 1992;89:2331-5.
17. Ebers GC, Bulman DE, Sadovnick AD. A population-based study of multiple sclerosis in twins. N Engl J Med 1986;315:1638-12.
18. Mumford CJ, et al. The British Isles survey of multiple sclerosis in twins. Neurology 1994;44:11-15.
19. Miller DH. Clinical and magnetic resonance imaging heterogeneity in multiple sclerosis. J Neurol Neurosurg Psychiatry 1999;67:139.
20. Brassat et al. Familial factors influence disability in MS multiplex families. Neurology 1999;52:1632-6.
21. Robertson NP et al. Clinical concordance in sibling pairs with multiple sclerosis. Neurology 1996;47:347-52.
22. Sawcer S, Jones HB, Feakes R, et al. A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nature Genet 1996;13:464-468.
23. Todd JA. Interpretation of results from genetic studies of multifactorial diseases. Lancet 1999;345(suppl I):15-16.
24. Leary SM, Stevenson VL, Miller DH, et al. Problems in designing and recruiting to therapeutic trials in primary progressive multiple sclerosis. J Neurol 1999;246:562-8.