Contributions
Abstract: EP1300
Type: ePoster
Abstract Category: Clinical aspects of MS - 2 MS Variants
Background and aim: Neuromyelitis optica spectrum disorder (NMOSD) covers a variety of demyelinating autoimmune disorders of the central nervous system (CNS) caused by aquaporin 4 (AQP4) immunoreactivity at least in a subset of patients. Understanding the genetic polymorphisms of patients with NMOSD and other demyelinating disorders with resembling clinical phenotypes may disclose its pathogenesis. In this study, we genotyped AQP4 gene in patients with NMOSD, relapsing inflammatory optic neuropathy (RION), and optico-spinal multiple sclerosis (OSMS) and compared clinical and genetic features of these disorders.
Methods: We included patients with NMOSD, RION, OSMS, and healthy controls in our study. We collected demographic and clinical data of the patients and sequenced five exones of AQP4 gene using Sanger sequencing method.
Results: We recruited 35 NMOSD, 15 RION, 10 OSMS patients, and 30 healthy controls in our study. Of the patients, 48 (80%) were female and 12 (20%) were male. Age, gender, follow-up period, annualized relapse rate, and progression index were similar between the groups. Cerebrospinal fluid protein levels were higher in patients with NMOSD (NMOSD: 50.0+/-33.2 mg/dl, RION: 24.2+/-4.9 mg/dl, OSMS: 20.0+/-4.0 mg/dl; p=0.02). Oligoclonal band positivity in OSMS patients were more frequent compared to other groups (NMOSD: 12.0%, RION: 7.0%, OSMS: 80.0% p=0.01). Compared to healthy controls, there was no significant difference in the frequency of any AQP4 allele in patients with NMOSD and OSMS. On the other hand, we detected three new single nucleotide polymorphisms in patients with RION.
Discussion: Clinical and laboratory features of NMOSD suggest that it is a distinct disorder rather than a spectrum of diseases that covers RION and OSMS. Our study did not reveal any allelic difference in AQP4 gene in patients with NMOSD and OSMS, suggesting that polymorphisms of AQP4 gene are unlikely to confer NMOSD susceptibility.
Disclosure: Nothing to disclose.
Abstract: EP1300
Type: ePoster
Abstract Category: Clinical aspects of MS - 2 MS Variants
Background and aim: Neuromyelitis optica spectrum disorder (NMOSD) covers a variety of demyelinating autoimmune disorders of the central nervous system (CNS) caused by aquaporin 4 (AQP4) immunoreactivity at least in a subset of patients. Understanding the genetic polymorphisms of patients with NMOSD and other demyelinating disorders with resembling clinical phenotypes may disclose its pathogenesis. In this study, we genotyped AQP4 gene in patients with NMOSD, relapsing inflammatory optic neuropathy (RION), and optico-spinal multiple sclerosis (OSMS) and compared clinical and genetic features of these disorders.
Methods: We included patients with NMOSD, RION, OSMS, and healthy controls in our study. We collected demographic and clinical data of the patients and sequenced five exones of AQP4 gene using Sanger sequencing method.
Results: We recruited 35 NMOSD, 15 RION, 10 OSMS patients, and 30 healthy controls in our study. Of the patients, 48 (80%) were female and 12 (20%) were male. Age, gender, follow-up period, annualized relapse rate, and progression index were similar between the groups. Cerebrospinal fluid protein levels were higher in patients with NMOSD (NMOSD: 50.0+/-33.2 mg/dl, RION: 24.2+/-4.9 mg/dl, OSMS: 20.0+/-4.0 mg/dl; p=0.02). Oligoclonal band positivity in OSMS patients were more frequent compared to other groups (NMOSD: 12.0%, RION: 7.0%, OSMS: 80.0% p=0.01). Compared to healthy controls, there was no significant difference in the frequency of any AQP4 allele in patients with NMOSD and OSMS. On the other hand, we detected three new single nucleotide polymorphisms in patients with RION.
Discussion: Clinical and laboratory features of NMOSD suggest that it is a distinct disorder rather than a spectrum of diseases that covers RION and OSMS. Our study did not reveal any allelic difference in AQP4 gene in patients with NMOSD and OSMS, suggesting that polymorphisms of AQP4 gene are unlikely to confer NMOSD susceptibility.
Disclosure: Nothing to disclose.