Journal of neurology, neurosurgery, and psychiatry
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Following the discovery in the early 1960s that mitochondria contain their own DNA (mtDNA), there were two major advances, both in the 1980s: the human mtDNA sequence was published in 1981, and in 1988 the first pathogenic mtDNA mutations were identified. The floodgates were opened, and the 1990s became the decade of the mitochondrial genome. ⋯ Moreover, mitochondrial dysfunction plays an important role in the pathophysiology of several well established nuclear genetic disorders, such as dominant optic atrophy (mutations in OPA1), Friedreich's ataxia (FRDA), hereditary spastic paraplegia (SPG7), and Wilson's disease (ATP7B). The next major challenge is to define the more subtle interactions between nuclear and mitochondrial genes in health and disease.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2003
Clinical TrialA sensitive radioimmunoprecipitation assay for assessing the clinical relevance of antibodies to IFN beta.
Some multiple sclerosis (MS) patients treated with interferon beta (IFN beta) develop antibodies to the drug. Neutralising antibody (NAB) assays for IFN beta are expensive and the clinical relevance of the results has been debated. ⋯ The RIPA assay is sensitive and easy to perform. It should be of value in assessing the clinical impact of IFN beta antibodies, and its use could help target expensive INF beta treatments to those who will respond best.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2003
Effect of a multidisciplinary amyotrophic lateral sclerosis (ALS) clinic on ALS survival: a population based study, 1996-2000.
In recent years, there has been a paradigm shift in the method of healthcare delivery to amyotrophic lateral sclerosis (ALS) patients with the emergence of multidisciplinary ALS clinics that cater exclusively for patients with this condition. The impact of multidisciplinary management has not been previously evaluated. ⋯ ALS patients who received their care at a multidisciplinary clinic had a better prognosis than patients attending a general neurology clinic. The data suggest that active and aggressive management enhances survival, particularly among ALS patients with bulbar dysfunction. The effect of clinic type must be considered in future clinical trials design.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2003
Randomized Controlled Trial Clinical TrialSplinting for carpal tunnel syndrome: prognostic indicators of success.
To identify (combinations of) prognostic indicators for the long term success of splinting in patients with electrophysiologically confirmed idiopathic carpal tunnel syndrome (CTS). ⋯ For patients to whom both factors applied, the predicted probability of treatment success, according to the model, was 62%. The overall percentage of patients who were correctly classified by the model was 78% (95% CI 69% to 87%).