Revista de neurologia
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Revista de neurologia · Jul 2007
Case Reports[Sensory ganglionopathy as a manifestation of celiac disease].
The neurological manifestations of celiac disease (CD) may be caused by the disease itself, by associated autoimmune diseases or by complications from the tumours that may develop in the long term. We report a case of sensory ganglionopathy associated to CD. ⋯ The neurological manifestations of CD are very varied, but in the presence of a sensory ganglionopathy, a neurological picture that is atypical in this disease, it becomes necessary to suspect SS, which is an infrequent but well established association. Likewise, all patients with SS must be screened for CD, which (albeit subclinically) can be complicated in the long term by the development of tumours. The differential diagnosis of the neurological manifestations of CD and of sensory ganglionopathy, as well as the association between celiac disease and SS, is also discussed.
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Revista de neurologia · Jul 2007
Review[An update on neurochemistry and pharmacological therapy of the cerebellar ataxias].
To review the available neurochemical data on the different cerebellar ataxias, and the therapeutic trials undertaken in the last twenty-five years. ⋯ A systematic search for treatable ataxias is emphasized, as a response to the severity of the degenerative conditions. The use of GABAergic drugs is proposed in ataxias associated with a deficiency of GABA in the brain, and that of glutamatergic agents, for ataxias associated with glutamate deficiency. The use of serotoninergic and cholinergic drugs is ruled out due to insufficient neurochemical evidence. It is proposed that research on remedies for the cerebellar ataxias should be based on either molecular data, or on neurochemical data, in its defect. To this end, the study of animal or experimental models of ataxia, the use of objective methods for the measurement of ataxia, and the recruitment of homogenous study populations, are all recommended.
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Revista de neurologia · May 2007
Case Reports[Contiguous gene deletion syndrome in Xp21: the association between glycerol kinase deficiency, congenital suprarenal hypoplasia and Duchenne's muscular dystrophy].
Complex glycerol kinase (GK) deficiency is a contiguous deletion of genes in Xp21 with loss of the locus for GK, for congenital adrenal hypoplasia (AHC) and/or for Duchenne's muscular dystrophy (DMD). We report the case of a 7-year-old patient with this rare disease. ⋯ Early identification of this disease makes it possible to foresee the acute metabolic decompensations and to establish suitable genetic counselling. CK and triglyceride counts should be performed in all male patients that present a suprarenal hypoplasia; if levels are high, then it is necessary to confirm the raised glycerol values and to carry out a confirmatory genetic study.
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Revista de neurologia · May 2007
Review Historical Article[Telemedicine and dementia: a need for the 21st century].
The ongoing process of information and communication technologies in health services implies a change in the conception, organization and management of these services. Telemedicine is a working method that allows health professionals to explore and/or treat a patient from an off-site location. In this review we provide a historical background on telemedicine, the evolution of its bibliometric impact, and its application for people with dementia. ⋯ Dementia could be an appropriate field in order to implement some telemedicine programs that may improve patient medical care, and reduce medical and management expenses for social and healthcare services.