Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Aug 2004
Case ReportsTwo families with autosomal dominant progressive external ophthalmoplegia.
We report here the clinical and genetic features of two new families with autosomal dominant progressive external ophthalmoplegia (adPEO). ⋯ Our cases illustrate the clinical variability of adPEO, add a novel pathogenic mutation in Twinkle (F485L) to the growing list of genetic abnormalities in adPEO, and reinforce the relevance of other yet unidentified genes in mtDNA maintenance and pathogenesis of adPEO.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2004
Increased intrathecal inflammatory activity in frontotemporal dementia: pathophysiological implications.
Immunological mechanisms may be part of the pathophysiological mechanisms in frontotemporal dementia (FTD), but hitherto only vague evidence of such mechanisms has been presented. The aim of this study was to compare the cerebrospinal fluid (CSF) levels of the pro-inflammatory cytokines interleukin (IL)-1beta and tumour necrosis factor (TNF)-alpha, and the anti-inflammatory cytokine transforming growth factor (TGF)-beta in patients with FTD and normal controls. Furthermore, serum levels of TNF-alpha, TGF-beta, and IL-1beta were measured in FTD patients. ⋯ The results suggest an increased intrathecal production of both pro- and anti-inflammatory cytokines in FTD. As no correlations were found with the albumin ratio, and no correlations between CSF and serum levels of the cytokines were found, these changes in the CSF cannot be explained by a systemic overproduction of cytokines.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
ReviewStereotactic radiosurgery for primary trigeminal neuralgia: state of the evidence and recommendations for future reports.
To identify systematically all the studies reporting outcomes and complications of stereotactic radiosurgery for trigeminal neuralgia and to evaluate them against predefined quality criteria. ⋯ Outcomes after stereotactic radiosurgery appear in line with other ablative techniques. Results are better when it is used as primary treatment in patients with typical symptoms. Current data are largely observational and the quality is generally poor. This technique should be evaluated in a randomised, controlled trial with universal outcome measures, actuarial methodology, and validated measures of patient satisfaction and quality of life.