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

• Published in: Human molecular genetics 2000-03, Vol.9 (5), p.787-793
• Main Authors: COFFEEN, C. M, MCKENNA, C. E, FU, Y.-H, KOEPPEN, A. H, PLASTER, N. M, MARAGAKIS, N, MIHALOPOULOS, J, SCHWANKHAUS, J. D, FLANIGAN, K. M, GREGG, R. G, PTACEK, L. J
• Format: Article
• Language: English
• Subjects: Adult-onset autosomal dominant leukodystrophy; Biological and medical sciences; Brain - pathology; chromosome 5; Chromosome Mapping; Chromosomes, Human, Pair 5; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Genes, Dominant; Hereditary Central Nervous System Demyelinating Diseases - genetics; Humans; Lod Score; Magnetic Resonance Imaging; Medical sciences; Multiple Sclerosis - genetics; Neurology; Pedigree
• ISSN: 0964-6906; 1460-2083; 1460-2083
• DOI: 10.1093/hmg/9.5.787

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.