title: HLA-DPB1*0501-associated opticospinal multiple sclerosis: clinical, neuroimaging and immunogenetic studies.
abstract: In order to clarify the relationship between the clinical phenotype and the human leucocyte antigen (HLA) in multiple sclerosis in Asians, 93 Japanese patients with clinically definite multiple sclerosis underwent clinical MRI and HLA-DPB1 gene typing studies. According to a neurological examination, 29 patients were classified as opticospinal multiple sclerosis, 17 as spinal multiple sclerosis and 47 as Western type multiple sclerosis showing the involvement of multiple sites in the CNS including either the cerebrum, cerebellum or brainstem. The opticospinal multiple sclerosis showed a significantly higher age of onset, higher expanded disability status scale scores and higher CSF cell counts and protein content than the Western type multiple sclerosis. On brain and spinal cord MRI, the opticospinal multiple sclerosis showed a significantly lower number of brain lesions, but a higher frequency of gadolinium-enhancement of the optic nerve and a higher frequency of spinal cord atrophy than in Western type multiple sclerosis. The frequency of the HLA-DPB1*0501 allele was found to be significantly greater in opticospinal multiple sclerosis (93%) than in healthy controls (63%, corrected P value = 0.0091 and relative risk = 7.9), but not in Western type multiple sclerosis (66%) or spinal multiple sclerosis (82%). The marked differences in the clinical and MRI findings as well as in the immunogenetic backgrounds between the opticospinal multiple sclerosis and Western-type multiple sclerosis together suggest that HLA-DPB1*0501-associated opticospinal multiple sclerosis is a distinct subtype of multiple sclerosis.
authors.affiliation: Department of Neurology, Neurological Institute and Department of Radiology, Graduate School of Medical Sciences, Kyushu University, Fukuoka Japan.
authors.forename: K
authors.initials: K
authors.lastname: Yamasaki
authors.forename: I
authors.initials: I
authors.lastname: Horiuchi
authors.forename: M
authors.initials: M
authors.lastname: Minohara
authors.forename: Y
authors.initials: Y
authors.lastname: Kawano
authors.forename: Y
authors.initials: Y
authors.lastname: Ohyagi
authors.forename: T
authors.initials: T
authors.lastname: Yamada
authors.forename: F
authors.initials: F
authors.lastname: Mihara
authors.forename: H
authors.initials: H
authors.lastname: Ito
authors.forename: Y
authors.initials: Y
authors.lastname: Nishimura
authors.forename: J
authors.initials: J
authors.lastname: Kira
mesh_terms: D000328:Adult; D017668:Age of Onset; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001921:Brain / Q000473:pathology*; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis; D005260:Female; D006682:HLA-DP Antigens / Q000235:genetics*; D059868:HLA-DP beta-Chains; D006801:Humans; D007125:Immunogenetics; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D009103:Multiple Sclerosis / Q000145:classification / Q000235:genetics* / Q000276:immunology* / Q000503:physiopathology; D010641:Phenotype; D012016:Reference Values; D013116:Spinal Cord / Q000473:pathology*; D044465:White People
chemical_list: D002556:Cerebrospinal Fluid Proteins; D006682:HLA-DP Antigens; D059868:HLA-DP beta-Chains; C071170:HLA-DPB1 antigen