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Human Molecular Genetics, 2000, Vol. 9, No. 5 787-793
© 2000 Oxford University Press

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

Christin M. Coffeen1, Catherine E. McKenna2, Arnulf H. Koeppen3, Nikki M. Plaster1, Nicholas Maragakis4, Jason Mihalopoulos1, John D. Schwankhaus5, Kevin M. Flanigan6, Ronald G. Gregg7, Louis J. Ptácek1,2,6 and Ying-Hui Fu8,+

1Department of Human Genetics, 2Howard Hughes Medical Institute, 6Department of Neurology and 8Department of Neurobiology and Anatomy, University of Utah, Salt Lake City, UT 84112, USA, 3VA Medical Center and Department of Neurology, Albany Medical College, Albany, NY 12208, USA, 4Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA, 5Neurology of Arkansas, Sherwood, AR 72120, USA and 7Departments of Biochemistry and Molecular Biology and Ophthalmology and Visual Sciences, University of Louisville, Louisville, KY 40202, USA

The hereditary leukodystrophies represent a group of neurological disorders, in which complete or partial dysmyelination occurs in either the central nervous system (CNS) and/or the peripheral nervous system. Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive, neurological disorder characterized by symmetrical widespread myelin loss in the CNS, and the phenotype is similar to that of chronic progressive multiple sclerosis. We report clinical, neuroradiological and neuropatho­logical data from the originally reported ADLD family. Furthermore, we have localized the gene that causes ADLD to a 4 cM region on chromosome 5q31. Linkage analysis of this family yielded a LOD score of 5.72 at {theta} = 0.0 with the microsatellite marker D5S804. Genetic localization will lead to cloning and characterization of the ADLD gene and may yield new insights into myelin biology and demyelinating diseases.

+ To whom correspondence should be addressed at: University of Utah, 4420 Eccles Institute of Human Genetics, 15N 2030 East, Salt Lake City, UT 84112-5331, USA. Tel: +1 801 585 9043; Fax: +1 801 585 5597; Email: yinghui@howard.genetics.utah.edu


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