Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population.

Multiple sclerosis (MS) and neuromyelitis optica (NMO) are common autoimmune demyelinating disorders of the central nervous system. The exact etiology of each remains unclear. CYP7A1 was reported to be associated with NMO in Korean patients, but this is yet to be confirmed in other populations. In this study, we used Sanger sequencing to detect SNPs in the promoter region of CYP7A1 in a population consisting of unrelated patients and controls from the Han Chinese population (129 MS; 89 NMO; 325 controls). Two known SNPs, -204A>C (rs3808607) and -469T>C (rs3824260), and a novel SNP (-208G>C) were identified in the 5'-UTR of CYP7A1. The -204A>C was in complete linkage with -469T>C and both were associated with NMO but not with MS. Results suggest that the CYP7A1 allele was associated with NMO. NMO and MS have different genetic risk factors. This further supports the emerging evidence that MS and NMO are distinct disorders.

[The role of mitochondrial dynamics in neurodegeneration].

Mitochondria are highly dynamic organelles, which undergo continuous cycles of fission and fusion. Mitochondrial dynamics (fission and fusion) plays important roles in maintaining neuronal functions, including biogenesis, mitochondrial distribution and cell injury or death. Mfnl/2 and Opal mediate mitochondrial fusion, whereas Drp1 and Fis1 regulate mitochondrial fission. Mutations of Opal cause autosomal dominant optic atrophy, and mutations of Mfn2 lead to Charcot-Marie-Tooth disease type 2A. Moreover, increasing evidences show that abnormal mitochondrial dynamics are involved in pathogenesis of late-onset neurodegenerative disorders, such as Alzheimer's disease, Parkinson's disease and Huntington's disease. This paper reviews the current advances of abnormal mitochondrial dynamics relevant to neuronal loss in neurodegenerative diseases.

Multicenter double-blind, randomized, placebo-controlled trial of levetiracetam as add-on therapy in Chinese patients with refractory partial-onset seizures.

PURPOSE: To evaluate efficacy and tolerability of levetiracetam (LEV; Keppra) as add-on therapy in Chinese patients with refractory partial-onset seizures. METHODS: In this multicenter, double-blind, randomized, placebo-controlled trial, 206 patients aged 16-70 years with uncontrolled partial-onset seizures were randomized to receive LEV (n =103) or placebo (n =103); 202 patients (LEV, n =102; placebo, n = 100) comprised the intent-to-treat population. An 8-week historical baseline period confirmed eligibility according to seizure count. The 16-week treatment period consisted of a 4-week up-titration period (LEV, 1,000-3,000 mg/day in two equal divided doses) followed by a 12-week maintenance period. Efficacy assessments were based on weekly frequency of partial-onset seizures during the 16-week treatment period. RESULTS: LEV significantly decreased weekly partial-onset seizure frequency over placebo by 26.8% (p < 0.001). Median percentage reductions in weekly partial-onset seizure frequency from historical baseline were 55.9% for LEV and 13.7% for placebo (p < 0.001). The >or=50% responder rates were 55.9% for LEV, compared with 26.0% for placebo (p < 0.001). Freedom from partial-onset seizures during treatment period was achieved by 11 LEV patients (10.8%) and 2 placebo patients (2.0%) (p = 0.012). Adverse events were reported by 65 LEV-treated patients (63.1%) and 62 placebo-treated patients (60.2%); most were of mild-to-moderate intensity. The most common adverse events were somnolence (LEV, 17.5%; placebo, 17.5%), decreased platelet count (LEV, 9.7%; placebo, 9.7%), and dizziness (LEV, 7.8%; placebo, 13.6%). DISCUSSION: Add-on LEV was effective and well-tolerated in Chinese patients with refractory partial-onset seizures.