Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31

Human Molecular Genetics

Volumn 9, Issue 5, 2000, Pages 787-793

  Coffeen, Christin M ^a   McKenna, Catherine E ^b   Koeppen, Arnulf H ^c   Plaster, Nikki M ^a   Maragakis, Nicholas ^d   Mihalopoulos, Jason ^a   Schwankhaus, John D ^e   Flanigan, Kevin M ^a   Gregg, Ronald G ^f   Ptácek, Louis J ^a,b   Fu, Ying Hui ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c ALBANY MEDICAL COLLEGE   (United States)

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

^e Neurology of Arkansas   (United States)

^f UNIVERSITY OF LOUISVILLE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA; MYELIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CENTRAL NERVOUS SYSTEM; CHROMOSOME 5Q; CLINICAL ARTICLE; GENE LOCATION; HUMAN; HUMAN TISSUE; LEUKODYSTROPHY; MOLECULAR CLONING; MULTIPLE SCLEROSIS; MYELIN DEFICIENCY; NEUROPATHOLOGY; NEURORADIOLOGY; ONSET AGE; PERIPHERAL NERVOUS SYSTEM; PHENOTYPE; PRIORITY JOURNAL;

EID: 0034701319     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.5.787     Document Type: Article

References (36)

1. Rodriguez, M., Powell, H.C. and Lampen, P.W. (1983) Neuropathology. In Rosenberg, R.N. and Schochet, S.S. (eds), The Clinical Neurosciences. Churchill Livingston, New York, NY, pp. 419-445.
2. Poser, C. (1990) The dysmyelinating diseases. In Joynt, R.J. (ed.), Clinical Neurology. J.B. Lippincott, Philadelphia, PA, pp. 1-70.
3. Schwankhaus, J.D., Katz, D.A., Eldridge, R., Schlesinger, S. and McFarland, H. (1994) Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. Arch. Neurol., 51, 757-766.
4. Eldridge, R., Anayiotos, C.P., Schlesinger, S., Cowen, D., Bever, C., Patronas, N. and McFarland, H. (1984) Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. N. Engl. J. Med., 311, 948-953.
5. Brown, R.T., Polinsky, R.J., Schwankhaus, J., Eldridge, R., McFarland, H., Schlesinger, S. and Dailey, W.A. (1987) Adrenergic dysfunction in hereditary adult-onset leukodystrophy. Neurology, 37, 1421-1424.
6. Schwankhaus, J.D., Patronas, N., Dorwart, R., Eldridge, R., Schlesinger, S. and McFarland, H. (1988) Computed tomography and magnetic resonance imaging in adult-onset leukodystrophy. Arch. Neurol., 45, 1004-1008.
7. Cartlidge, N.B. (1972) Autonomie function in multiple sclerosis. Brain, 95, 661-664.
8. Bird, T.D. (1975) Apparent familial multiple sclerosis in three generations. Report of a family with histocompatibility antigen typing. Arch. Neurol., 32, 414-416.
9. Drachman, D.A., Davison, W.C. and Mittal, K.K. (1976) Histocompatibility (HL-A) factors in familial multiple sclerosis. Is multiple sclerosis susceptibility inherited via the HL-A chromosome? Arch. Neurol., 33, 406-413.
10. Ebers, G.C., Bulman, D.E., Sadovnick, A.D., Paty, D.W., Warren, S., Hader, W., Murray, T.J., Seland, T.P., Duquette, P., Grey, T. et al. (1986) A population-based study of multiple sclerosis in twins. N. Engl. J. Med., 315, 1638-1642.
11. Seboun, E., Oksenberg, J.R. and Hauser, S.L. (1997) Molecular and genetic aspects of multiple sclerosis. In Rosenberg, R.N., Prusiner, S.B., DiMauro, S. and Barchi, R.L. (eds), The Molecular and Genetic Basis of Neurological Disease, 2nd edn. Butterworth-Heinemann, Boston, MA, pp. 631-660.
12. Koeppen, A.H., Dickson, A.C., Stasack, J.A. and Brenner, M. (1996) Familial leukodystrophy with crippled astrocytes. Brain Pathol., 6, 353.
13. Dib, C., Faure, S., Fizames, C., Samson, D., Drouot, N., Vignal, A., Millasseau, P., Marc, S., Hazan, J., Seboun, E. et al. (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature, 380, 152-154.
14. Löwenberg, K. and Hill, T.S. (1933) Diffuse sclerosis with preserved myelin islands. Arch. Neurol. Psychol., 29, 1232-1245.
15. Peiffer, J. and Zerbin-Rudin, E. (1963) Zur Variationsbreite der Pelizaeus-Merzbacherschen Krankheit (Zugleich ein Beitrag zur familiaren multiplen Sklerose). Acta Neuropathol. (Berl.), 3, 87-107.
16. Koeppen, A.H., Ronca, N.A., Greenfield, E.A. and Hans, M.B. (1978) Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease. Ann. Neurol., 21, 159-170.
17. Ben-Yoseph, Y., Hungerford, M. and Nadler, H.L. (1978) The nature of mutation in Krabbe disease. Am. J. Hum. Genet., 30, 644-652.
18. Zlotogora, J., Chakraborty, S., Knowlton, R.G. and Wenger, D.A. (1990) Krabbe disease locus mapped to chromosome 14 by genetic linkage. Am. J. Hum. Genet., 47, 37-44.
19. Cannizzaro, L.A., Chen, Y.Q., Rafi, M.A. and Wenger, D.A. (1994) Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization. Cytogenet. Cell Genet., 66, 244-245.
20. Austin, J., McAfee, D., Armstrong, D., O'Rourke, M., Shearer, L. and Bachhawat, B. (1964) Abnormal sulphatase activities in two human diseases (metachromatic leucodystrophy and gargoylism). Biochem. J., 93, 15C-17C.
21. Narahara, K., Takahashi, Y., Murakami, M., Tsuji, K., Yokoyama, Y., Murakami, R., Ninomiya, S. and Seino, Y. (1992) Terminal 22q deletion associated with a partial deficiency of arylsulphatase. Am. J. Med. Genet., 29, 432-433.
22. van Oost, B.A., van Zandvoort, P.M., Tunte, W., Brunner, H.G., Hoogeboom, A.J., Maaswinkel-Mooy, P.D., Bakkeren, J., Hamel, B. and Ropers, H.H. (1991) Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis. Hum. Genet., 86, 404-407.
23. Morgan, J.G., Dolganov, G.M., Robbins, S.E., Hinton, L.M. and Lovett, M. (1992) The selective isolation of novel cDNAs encoded by the regions surrounding the human interleukin 4 and 5 genes. Nucleic Acids Res., 20, 5173-5179.
24. Le Beau, M.M., Espinosa, R., Neuman, W.L., Stock, W., Roulston, D., Larson, R.A., Keinanen, M. and Westbrook, C.A. (1993) Cytogenetic and molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases. Proc. Natl Acad. Sci. USA, 90, 5484-5488.
25. van de Wetering, M., Suijkerbuijk, R., Guerts van Kessel, A. and Clevers, H. (1991) Assignment of the human T lymphocyte-specific transcription factor TCF-1 to chromosome 5 band q31.1. Cytogenet. Cell Genet., 58, 1906.
26. van de Wetering, M., Oosterwegel, M., Holstege, F., Dooyes, D., Suijkerbuijk, R., Geurts van Kessel, A. and Clevers, H. (1992) The human T cell transcription factor-1 gene. Structure, localization, and promoter characterization. J. Biol. Chem., 267, 8530-8536.
27. Willman, C.L., Sever, C.E., Pallavicini, M.G., Harada, H., Tanaka, N., Slovak, M.L., Yamamoto, H., Harada, K., Meeker, T.C., List, A.F. et al. (1993) Deletion of IRF-1, mapping to chromosome 5q31.1, in human leukemia and preleukemic myelodysplasia. Science, 259, 968-971.
28. Powell, H.C. and Lampert, P.W. (1979) Hexachlorophene toxicity. In Vinken, P.J. and Bruyn, G.W. (eds), Handbook of Clinical Neurology. North-Holland, Amsterdam, The Netherlands, pp. 479-509.
29. Love, S. (1988) Cuprizone neurotoxicity in the rat: morphologic observations. J. Neurol. Sci., 84, 223-237.
30. Komoly, S., Hudson, L.D., Webster, H.D. and Bondy, C.A. (1992) Insulin-like growth factor I gene expression is induced in astrocytes during experimental demyelination. Proc. Natl Acad. Sci. USA, 89, 1894-1898.
31. Ptácek, L.J., Tyler, F., Trimmer, J.S., Agnew, W.S. and Leppert, M. (1991) Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus. Am. J. Hum. Genet., 49, 378-382.
32. Lathrop, G.M., Lalouel, J.M., Julier, C. and Ott, J. (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am. J. Hum. Genet., 37, 482-498.
33. ,33. Koeppen, A.H., Csiza, C.K., Willey, A.M., Ronne, M., Barron, K.D., Dearborn, R.E. and Hurwitz, C.G. (1992) Myelin deficiency in female rats due to a mutation in the PLP gene. J. Neurol. Sci., 107, 78-86.
34. Hsu, S.M., Raine, L. and Fanger, H. (1981) Use of avidin-biotin-peroxidase complex (ABC) in immunoperoxidase techniques: a comparison between ABC and unlabeled antibody (PAP) procedures. J. Histochem. Cytochem., 29, 577-580.
35. Laemmli, U.K. (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature, 227, 680-685.
36. Towbin, H., Staehelin, T. and Gordon, J. (1979) Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications. Proc. Natl Acad. Sci. USA, 76, 4350-4354.