[Truncated abstract] Multiple Sclerosis (MS) is one of the most common neurological disorders and causes of disability in young adults. MS is recognised to be a complex disease involving genetic and environmental factors interacting together. Despite tremendous advances in our knowledge of MS in recent years, its cause and pathogenesis remain a puzzle. This study investigated the clinical phenotype, radiological features, immunological characteristics and human leucocyte antigen (HLA) alleles and haplotypes of a large Australian cohort of patients with MS and other demyelinating diseases sourced from the Perth Demyelinating Disease Database (PDDD). Prior to this study, the clinical profile and HLA-DRB1 genotype of Australian patients with late onset MS (LOMS), defined as onset over 50 years, were unknown. The clinical and other features, including the HLA-DRB1 alleles of a cohort of 73 patients with LOMS were compared with those of 100 patients with early onset MS (EOMS). LOMS patients displayed a lower female/male ratio, more frequent initial motor dysfunction, less frequent sensory symptoms and optic neuritis, more frequent primary-progressive course and faster progress than EOMS patients. Moreover, more LOMS patients were initially misdiagnosed more frequently compared to EOMS patients. The HLA-DRB1*1501 allele was strongly associated with both LOMS and EOMS compared with controls, while HLA-DRB1*0801 was overrepresented in LOMS patients. These results lead to the conclusion that patients with LOMS have a different clinical profile compared to EOMS, and that carriers of the HLA-DRB1*0801 allele may be more prone to developing MS at a later age.
|Qualification||Doctor of Philosophy|
|Publication status||Unpublished - 2011|