Journal of neurology
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The terms amyotrophic lateral sclerosis (ALS) or motor neuron disease (MND) refer to a condition characterized by motor system degeneration with relative preservation of other pathways. Although there have been advances in symptomatic treatment, ALS remains an incurable condition. Advances in ALS management prolong survival but simultaneously raise challenging ethical dilemmas for physicians, patients and their families. Here, we review current practice in the management of ALS including pharmacological treatment, nutritional management, respiratory care, and evolving strategies in the management of cognitive impairment.
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Journal of neurology · Feb 2009
SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis.
Sporadic Amyotrophic Lateral Sclerosis (sALS) is associated with frontotemporal dementia (ALS-FTD) or milder deficits of cognitive (predominantly executive) dysfunction (ALSCi) in some patients. Some forms of familial ALS (FALS) have a family history of FTD, ALS-FTD, or both, but there have been few reports of ALS-FTD in FALS patients with mutations of the gene superoxide dismutase-1 (SOD1 FALS). The aim of this study was to test the hypothesis that ALSCi may be found in non-SOD1 FALS, but that SOD1 FALS patients would show little or no evidence of cognitive change. ⋯ Individuals with SOD1 gene mutations are less likely to have significant cognitive changes compared to non-SOD1 FALS patients. Cognitive abnormalities in ALS are heterogeneous and may reflect underlying genetic variations rather than a simple spectrum of extra-motor involvement.
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Journal of neurology · Feb 2009
Randomized Controlled Trial Comparative StudyMagnesium and aspirin treatment in patients with subarachnoid haemorrhage. Comparison of effects after endovascular and neurosurgical aneurysm occlusion.
Aneurysm treatment with endovascular coiling is associated with a better outcome than neurosurgical clipping in patients with subarachnoid haemorrhage (SAH). The better outcome after coiling may decrease the risk reduction from other treatments in these patients, and thus may increase sample sizes for current or future neuroprotective trials. The influence of the method of aneurysm treatment was studied in our randomised MASH trial, which assessed in a factorial design the efficacy of magnesium and aspirin in preventing delayed cerebral ischaemia (DCI) and poor outcome. ⋯ This post hoc analysis does not suggest that medical treatments are less effective after endovascular than after neurosurgical treatment in patients with SAH, and thus do not support a need for adjusting sample size calculations in future trials.
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Chronic meningitis is an inflammation of the meninges with subacute onset and persisting cerebrospinal fluid (CSF) abnormalities lasting for at least one month. Several non-infectious and infectious etiologies are known to be causative. The wide range of different etiologies renders the approach to patients with this syndrome particularly difficult. ⋯ This review aims to present the current knowledge on etiology, neurological course of disease, diagnostic and therapeutic management steps of patients presenting with clinical signs and symptoms of chronic meningitis and meningoencephalitis. Still, the etiology of one third of patients remains unclear, reflecting the diagnostic challenge of this syndrome for each physician or neurologist, respectively. However, most patients with idiopathic chronic meningitis have a relatively good outcome.
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Journal of neurology · Feb 2009
Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disorder caused by NOTCH3 mutations and characterized by recurrent subcortical infarctions, dementia and leukoencephalopathy. So far, most clinical, molecular and neuroimaging information has come from Caucasians. Therefore, we investigated the spectrum of NOTCH3 mutations and MRI features in CADASIL patients of Chinese origin on Taiwan. ⋯ A population-specific mutational spectrum of CADASIL was found in the Chinese patients on Taiwan. The Chinese patients carrying NOTCH3 R544C may descend from a common ancestor. Anterior temporal hyperintensity on T2-weighted MRI may not be a sensitive marker for CADASIL. ICH is a relatively common manifestation of CADASIL in East Asians, especially in the presence of hypertension.