Cerebral vasospasm and wernicke encephalopathy secondary to adult cyclic vomiting syndrome: the role of magnesium.

BACKGROUND: Magnesium has a regulatory role in the excitability of cell membranes, and is also a cofactor in the phosphorylation of thiamine. Hypomagnesemia has been associated with coronary vasospasm, but its role in cerebrovascular pathology is controversial, and cerebral vasospasm exclusively attributable to hypomagnesemia has not been reported in humans. CASE PRESENTATION: We report the case of a 51-year-old man in whom uncontrollable vomiting, treatment with omeprazole and thiazide, and renal impairment lead to a severe hypomagnesemia (magnesium below the level of detection in blood tests), which secondarily caused Wernicke's encephalopathy and vasospasm in multiple cerebral arteries (seen with cerebral angiography and CT angiography) that presented with a complete right hemisphere neurological deficit. These disturbances completely resolved when magnesium levels were normalized and subsequent neuroimaging tests confirmed the resolution of angiographic changes. CONCLUSION: Our case suggests that hypomagnesemia should be considered in the differential diagnosis of patients with neurological symptoms and predisposing causes.

Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1.

Spinal muscular atrophy and progressive myoclonic epilepsy (SMAPME, OMIM#159950) is a rare autosomal recessive disorder characterized by the combination of progressive myoclonic epilepsy and muscular weakness due to lower motor neuron disease. Mutations in ASAH1, previously associated only to Farber disease, have been recently described in seven patients with SMAPME. A homozygous c.125C>T mutation was initially found in six patients with a clinical homogeneous phenotype. A heterozygous compound mutation found in an additional patient has broadened the clinical and genetic spectrum of clinical SMAPME. We report a new case of a 13-year-old girl with SMAPME with the homozygous ASAH1 c.125C>T mutation, unique in that it is due to paternal uniparental disomy. She experienced muscle weakness from the age of three due to lower motor neuron involvement that lead to severe handicap and onset in late childhood of a progressive myoclonic epilepsy. This clinical picture fully overlaps with that of previously reported patients with this mutation and supports our view that the clinical phenotype associated with the homozygous c.125C>T mutation constitutes a clinically homogenous and recognizable disease.

Utilidad de la ecografía transcraneal en la estimulación cerebral profunda / Effectiveness of transcranial ultrasound in deep brain stimulation

No disponible

Staging of alpha-synuclein in the olfactory bulb in a model of Parkinson's disease: cell types involved.

Impaired olfaction is an early symptom of Parkinson's disease. The underlying neuropathology likely includes alpha-synucleinopathy in the olfactory bulb at an earlier stage (Braak's stage1) than pathology in the substantia nigra, which is not observed until stage 3. In this report, we investigated the distribution and cell types affected by alpha-synuclein in the olfactory bulb of transgenic mice (2-8 months of age) expressing the human A53T variant of alpha-synuclein. alpha-Synuclein immunostaining progressively affects interneurons and mitral cells. Double labeling studies demonstrate that dopaminergic cells are hardly involved, whereas glutamatergic- and calcium binding protein-positive cells are severely affected. This temporal evolution and the cell types expressing alpha-synuclein are reminiscent of idiopathic Parkinson's disease and support the usefulness of this model to address specific topics in the premotor phase of the disease.

alpha-Synucleinopathy in the human olfactory system in Parkinson's disease: involvement of calcium-binding protein- and substance P-positive cells.

Hyposmia is an early symptom of idiopathic Parkinson's disease but the pathological bases of such dysfunction are largely unknown. The distribution of alpha-synuclein, which forms Lewy bodies and Lewy neurites, and the types of neurons (based on their neurotransmitters) affected by alpha-synucleinopathy were investigated in the olfactory system in Parkinson's disease. Immunohistochemical distribution of alpha-synuclein and its co-localization with tyrosine hydroxylase, somatostatin, calbindin, calretinin, parvalbumin and substance P in the olfactory bulb, anterior olfactory nucleus, olfactory tubercle and piriform, periamygdaloid and rostral entorhinal cortices of idiopathic Parkinson's disease cases (n = 11) and age-matched controls (n = 11) were investigated. Lewy bodies and Lewy neurites were present in the olfactory bulb, particularly in mitral cells and in the inner plexiform layer. alpha-synuclein was particularly abundant in the different divisions of the anterior olfactory nucleus (bulbar, intrapeduncular, retrobulbar and cortical). In contrast, Lewy bodies and Lewy neurites were less abundant in the olfactory tubercle and olfactory cortices. In the olfactory bulb, anterior olfactory nucleus and olfactory cortices, cells affected by alpha-synucleinopathy rarely co-localized tyrosine hydroxylase or somatostatin, but they frequently co-localized calbindin, calretinin, parvalbumin and substance P. The present data provide evidence that alpha-synucleinopathy affects neurons along the olfactory pathway. Dopamine- and somatostatin-positive cells are rarely affected; whereas the cell types most vulnerable to neurodegeneration include glutamate- (mitral cells), calcium-binding protein- and substance P-positive cells. These results provide data on the distribution and cell types involved by alpha-synucleinopathy in the human olfactory system during Parkinson disease that may be useful for future clinical investigation.

Trastornos no motores de la enfermedad de Parkinson: introducción y generalidades / Non-motor disorders in Parkinson’s disease: introduction and general features

Introducción. Hace ya casi 200 años, James Parkinson describió con detalle la enfermedad que hoy lleva su nombre, centrándose no sólo en los trastornos motores sino también en los síntomas no motores que sufren estos pacientes. Desarrollo. Los síntomas no motores en enfermos parkinsonianos son prevalentes e interfieren en su calidad de vida. En los últimos años se ha intentado resolver el problema de su infradiagnóstico mediante cuestionarios y escalas. Asimismo, algunos de estos síntomas se postulan como predictores de la enfermedad y se plantea que individuos asintomáticos desde el punto de vista motor que sufran alguno de estos síntomas no motores podrían ser dianas de estrategias neuroprotectoras cuando se disponga de ellas. Conclusiones. Los síntomas no motores son frecuentes y tienen gran impacto en la calidad de vida de los enfermos parkinsonianos, por lo que es necesario reconocerlos y tratarlos. Su papel como predictores de la enfermedad a día de hoy aún no está aclarado (AU)

Introduction. Two hundred years ago James Parkinson accurately described the disease that bears his name today, focusing not only on motor aspects but also on non-motor symptoms suffered by these patients. Development. Non-motor symptoms are prevalent and decrease the quality of life of the patients with Parkinson’s disease. In recent years, some non-motor scales have been developed to avoid the problem of underdiagnosis. Moreover, some of them have been proposed as clinical predictors for Parkinson’s disease and it is has been suggested that individuals with any of these non-motor symptoms and without motor manifestations of the disease could be the aim for neuroprotective therapies when they become available. Conclusions. Non-motor symptoms are prevalent and have a great impact in the quality of life of patients. Therefore, it is important to detect and treat them. Their role as predictors of the disease is unclear yet (AU)