Journal of neurology, neurosurgery, and psychiatry
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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.
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J. Neurol. Neurosurg. Psychiatr. · Feb 2004
Case ReportsTangier disease--a diagnostic challenge in countries endemic for leprosy.
A case of Tangier disease (TD) is reported from India. The patient had presented with indolent mononeuritis multiplex and trophic ulcers of 16 years duration mimicking Hansen's disease. He received antileprosy treatment for one and a half years. ⋯ This is the first reported case of TD from a tropical country-India. An attempt to establish a correct diagnosis should be made by demonstrating the histopathological and lipoprotein abnormality to avoid long term medications that are chosen empirically and are unnecessary. The importance of recognising this disease in a country where Hansen's disease is highly endemic cannot be overemphasised.
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Patients with familial dysautonomia (FD) manifest episodic hyperhidrosis despite the reduction of sudomotor fibres and sweat glands associated with this autonomic neuropathy. We assessed peripheral sudomotor nerve fibre and sweat gland function to determine if this symptom was due to peripheral denervation hypersensitivity. ⋯ The finding of normal direct and axon reflex mediated sweat output in FD patients supports our hypothesis that, in a disorder with severe sympathetic nerve fibre reduction, sudomotor fibres, but not the sweat gland itself, exhibit chemical hypersensitivity. This might explain excessive episodic hyperhidrosis in situations with increased central sympathetic outflow.