Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Feb 2004
Rate and correlates of weight change in Huntington's disease.
To determine the rate and correlates of weight change in a large, well characterised sample of patients with Huntington's disease followed at 44 sites by the Huntington Study Group. ⋯ Weight loss following symptom onset is not a consistent feature of Huntington's disease. The mechanisms contributing to weight change in this condition are unclear and probably multifactorial. Future studies examining asymptomatic carriers of the mutation could be helpful in identifying incipience of low body weight and may be better suited for identifying clinical correlates of weight loss than studies in symptomatic patients.
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J. Neurol. Neurosurg. Psychiatr. · Feb 2004
Case ReportsThe importance of suspecting superficial siderosis of the central nervous system in clinical practice.
Once the central nervous system surface is greatly encrusted with haemosiderin, even removing the source of bleeding will have little effect on the progression of clinical deterioration. Superficial siderosis of the central nervous system is rare and insidious, but magnetic resonance imaging has turned a previously late, mainly autoptical diagnosis into an easy, specific, in vivo, and possibly early one. Avoiding long diagnostic delay will be very important in those cases susceptible of causal treatment.
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J. Neurol. Neurosurg. Psychiatr. · Feb 2004
Detection of oligoclonal free kappa chains in the absence of oligoclonal IgG in the CSF of patients with suspected multiple sclerosis.
Oligoclonal free kappa bands are present as frequently as oligoclonal IgG bands in the cerebrospinal fluid (CSF) from patients with definite multiple sclerosis (MS) and can even occur in the absence of oligoclonal IgG. As such, they too are markers of an ongoing intrathecal immune process. ⋯ (1) Oligoclonal free kappa bands in the CSF are related to the dissemination of MS lesions; (2) such bands should be looked for in oligoclonal IgG negative CSF, and (3) the presence of free kappa bands in the CSF may be a substitute for oligoclonal IgG in the McDonald's criteria for diagnosis of MS.
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J. Neurol. Neurosurg. Psychiatr. · Feb 2004
Comparative StudyCharacteristics of dystonic movements in primary and symptomatic dystonias.
To compare clinical characteristics of the involuntary movements in primary and symptomatic dystonias. ⋯ The study identified several clinical features that may be helpful in differentiating primary from secondary dystonia.
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J. Neurol. Neurosurg. Psychiatr. · Feb 2004
Case ReportsClinical, molecular, and PET study of a case of aceruloplasminaemia presenting with focal cranial dyskinesia.
Aceruloplasminaemia is a rare recessive disorder caused by mutations in the gene encoding the multicopper ferroxidase ceruloplasmin, thought to be involved in cellular iron export. Primary intracellular iron accumulation characterises this disorder. We investigated a case of aceruloplasminaemia early in the course of the disease by structural and functional neuroimaging and correlated the results with the clinical findings. ⋯ However, most of these structures had preserved metabolic activity as evaluated by fluorodeoxyglucose positron emission tomography (FDG-PET). Voxel based analysis of FDG-PET data showed a significant hypometabolism only in the heads of the caudate nuclei. Molecular genetic analysis revealed compound heterozygosity for two null mutations in the ceruloplasmin gene, a rather surprising finding for a very rare recessive disease, suggesting that aceruloplasminaemia could be somewhat more frequent than is commonly thought and could therefore be underdiagnosed.