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
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%).
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J. Neurol. Neurosurg. Psychiatr. · Sep 2003
Comparative StudyPerformance on the dementia rating scale in Parkinson's disease with dementia and dementia with Lewy bodies: comparison with progressive supranuclear palsy and Alzheimer's disease.
The relation between dementia with Lewy bodies (DLB) and Parkinson's disease with dementia (PDD) is unknown. ⋯ The cognitive profiles of patients with DLB and PDD were similar, but they differed from those of patients with Alzheimer's disease and progressive supranuclear palsy. The cognitive pattern in DLB and PDD probably reflects the superimposition of subcortical deficits upon deficits typically associated with Alzheimer's disease.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2003
Clinical experience with gamma knife stereotactic radiosurgery in the management of vestibular schwannomas secondary to type 2 neurofibromatosis.
To evaluate the results of stereotactic radiosurgery treating vestibular schwannomas secondary to type 2 neurofibromatosis. ⋯ Radiosurgery is a valuable minimally invasive alternative treatment for these tumours. For most patients, it controls growth or defers the need for surgery, or both. There is a price in terms of hearing function, although this may compare favourably with the deafness associated with the natural history of the disease, and with surgery. In deciding on therapy, patients should be aware of this treatment option.