ABSTRACT
BACKGROUND@#Anti-N-Methyl-D-Aspartate receptor (anti-NMDAR) Encephalitis is the most common type of autoimmune encephalitis that affects children, adolescents and young adults. Since its discovery in 2007, there is still a paucity of data on the disease and factors affecting its outcome.@*OBJECTIVES@#To describe the clinical characteristics of children and adolescents with anti-NMDAR encephalitis and to analyze factors that may affect its outcome.@*METHODS@#Forty-three patient records of diagnosed anti-NMDAR Encephalitis were included. The outcome was evaluated using the modified Rankin Scale (mRS), and Clinical Assessment Scale for autoimmune Encephalitis (CASE). @*RESULTS@#Ages ranged from 2 years to 18 years old, majority in the 12-18 years age range. Sixty percent were female. First line treatment using immunotherapy was given to all patients: 37% as monotherapy and 84% combination therapy (MPT only 23%, IVIg only 4%, MPT + IVIg or TPE 21-26%, and MPT + IVIg + TPE 16%). Clinical outcomes on discharge and on follow-up were assessed using the mRS and CASE. On discharge the proportion of the patients who had mild impairment (mRS<2, CASE<9) was more than 50%. On median duration follow-up of 31 weeks (range 24-40 weeks), 96.8% had significant improvement (mRS<2, CASE<9). Among the possible factors that were assessed to affect outcome, only severity of the illness at the start of the treatment influenced clinical outcome.@*CONCLUSION@#Early diagnosis and initiation of treatment before the progression of the disease will promote faster recovery and more optimal clinical outcome. CASE may be used as an additional tool in assessing response to treatment.
ABSTRACT
@#<p><strong>OBJECTIVE:</strong> X-linked dystonia parkinsonism (XDP) is an adult-onset, progressive and debilitating movement disorder described among Filipino males from Panay Island. The available oral medications have been ineffective. While chemodenervation with botulinum toxin A works and deep brain stimulation surgery is promising, these are not affordable for the vast majority of patients. Thus, we decided to look into the efficacy, safety and tolerability of levodopa+carbidopa (levodopa) versus placebo among patients with XDP.</p><p><strong>METHODS:</strong> This was a double blind, randomized, placebo-controlled clinical trial. Patients were randomized to receive levodopa or placebo for 6 months. The dose was increased gradually until 1000 mg levodopa/day is reached or until side effects appear.</p><p><strong>RESULTS:</strong> A total of 86 out of 94 randomized patients (91.5%) were included in the intention-to-treat cohort for the primary efficacy analysis. Nineteen patients (9 in levodopa, 10 in placebo) dropped out or were lost to follow up. There was no significant difference in the baseline and last visit Burke Fahn Marsden Dystonia Rating Scale and the part III of the Unified Parkinson's Disease Rating Scale scores between levodopa and placebo. The most common adverse events in the levodopa group were increased movements, pain and nausea/ vomiting.</p><p><strong>CONCLUSION:</strong> While levodopa is safe and well-tolerated, it does not have any effect in alleviating the dystonia or parkinsonism in XDP.</p>
Subject(s)
Humans , Dystonia , Parkinsonian Disorders , Levodopa , Carbidopa , Parkinson DiseaseABSTRACT
BACKGROUND: Sex-linked dystonia-parkinsonism (XDP) is an adult-onset, progressive, debilitating movement disorder that manifests with features of dystonia and parkinsonism. It is endemic among Filipino males from Panay Island. Many of these patients would have peculiar postures and bizarre movements forcing them to retreat to the confines of their home or probably in solitude. OBJECTIVE: To describe the rate of suicide among XDP patients. METHODS: We identified the patients from the Philippine XDP registry maintained by the XDP Study Group. A retrospective chart review was then done. RESULTS: There were 21 deaths attributable to suicide from the 194 deaths from the XDP registry (10.8%). The mean age at suicide was 44 + 11.38 years, around 7.76 + 4.65 years from onset of illness and 5.81 + 4.32 years from the diagnosis. Most patients (17/21) were in the generalized dystonia stage at the time of suicide. Five of the suicide cases belonged to two families. The most common method of suicide were hanging (10, 47.6%), refusal to eat (5, 23.8%), non-accidental organophosphate poisoning and self-mutilation (1 each, 4.8%). CONCLUSION: There was a high rate of suicide (10.8%) among XDP patients compared to the national suicide rate of 3.59/100,000. Hanging was the most common method used to commit suicide.
ABSTRACT
BACKGROUND AND OBJECTIVE: X-linked dystonia parkinsonism (XDP, DYT3, MIM #314250) is a neurodegenerative movement disorder found endemically in the Philippines. An SVA retrotransposon insertion mutation has been described in patients with XDP, which requires Southern analysis for detection. However, this method is costly and time-consuming. Hence we developed a PCR-based method and validated it among our local population. METHODS AND RESULTS: A total of 58 samples from 58 patients with a clinical diagnosis of XDP were collected. Other samples were from an obligate female carrier, two unaffected male relatives, and two patients with typical Parkinson’s disease. Primers designed to amplify the SVA retrotransposon found in the DYT3-TAF1 gene (NCBI Accession Number AB191243) were used. All patients were positive for the expected 3229-bp product after PCR amplification. The normal control showed a 599-bp product, while the female carrier showed both the 3229 and 599-bp product. Subsequent RFLP analysis using BamHI verified the presence of the SVA retrotransposon insertion mutation. CONCLUSION: Our results show that large-scale PCR-based testing to screen for genetic diseases with a relatively high prevalence such as XDP is possible in our setting. When followed by RFLP analysis, this can provide genetic confirmation of the diagnosis of XDP and facilitate proper genetic counselling and therapy.