Blood levels of homocysteine, cysteine, glutathione, folic acid, and vitamin B12 in the acute phase of atherothrombotic stroke.

Blood levels of total homocysteine (tHcy), cysteine (Cys), total and reduced glutathione (tGSH and rGSH), folic acid (FA), and vitamin B12 (B12) change during ischemic stroke as accompaniment of the tissue damage. The relationship between these changes remains scantly investigated. We evaluated the variation of these molecules in the 48 h after acute large artery atherothrombotic stroke (LAAS) and searched for the presence of matched variation of them. The study involved 50 subjects affected by acute LAAS and 49 healthy controls. Plasma levels of tHcy and Cys were significantly higher and serum levels of FA and B12 and plasma levels of rGSH were significantly lower in the patients than in the control group. Acute LAAS was associated with increased Hcy-decreased tGSH and decreased FA/tGSH. Pathways involved in cellular stress and in tissue repair are activated during acute LAAS.

A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily.

BACKGROUND: Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal recessive disorder characterized by a hoarse voice, warty skin infiltration and scarring. Mutations within the extracellular matrix protein 1 (ECM1) gene cause LP. OBJECTIVES: We report the molecular analysis of the ECM1 gene in a Sicilian patient with LP in order to extend the mutation spectrum of this genodermatosis. METHODS: We studied a 32-year-old female born from consanguineous parents who was diagnosed at the age of 11 years as having LP. She has a clinical phenotype corresponding to Urbach-Wiethe disease characterized by papules/nodules, indurated plaques and sometimes ulcerated lesions primarily involving the skin and mucous membranes, and extracutaneous features such as epilepsy, hoarseness of the voice and neuropsychiatric abnormalities. Samples of clinically affected skin obtained by biopsies were analysed after staining with haematoxylin and eosin, periodic acid-Schiff (PAS), and PAS-diastase. The whole ECM1 gene was analysed by direct sequencing. RESULTS: We identified a homozygous nonsense mutation in exon 6 of the ECM1 gene, C589T (Q197Ter). CONCLUSIONS: Over 60% of mutations occur in exons 6 and 7. Exon 7 is alternatively spliced and frameshift mutations in exon 7 lead to ablation of the ECM1a transcript, but not the shorter ECM1b transcript that normally lacks this exon. Homozygous nonsense or frameshift mutations in exon 6 are predicted to affect both full-length ECM1a and ECM1b transcripts, whereas ECM1b should be unaffected for similar types of mutation in exon 7. It has been suggested that individuals with mutations in exon 7 have a slightly milder phenotype than those with exon 6 mutations. This is the first report with respect to a novel mutation of the ECM1 gene responsible for recessive LP in Sicily.

Hypo-excitability of cortical areas in patients affected by Friedreich ataxia: a TMS study.

The aim of the study was to explore excitability of a motor and a non-motor (visual) area in patients affected by Friedreich ataxia and to correlate neurophysiological data with clinical parameters. Seven patients (3M/4F) and ten healthy controls (5M/5F) participated in the study. The hot-spot for activation of right abductor pollicis brevis was checked by means of a figure-of-eight coil and the motor threshold (MT) on this point was recorded. The phosphene threshold (PT) was measured by means of a focal coil over the occipital cortex as the lower intensity of magnetic stimulation able to induce the perception of phosphenes. The patients showed a significantly higher mean PT (p<.03) and MT values (p<.001) than controls. In all but one patient unable to perceive phosphenes (42% vs. 50% of controls), TMS at 100% intensity did not elicit motor response at rest. The difference in percentage of patients (57.1%) and controls (100%) with motor responses was nearly significant. The size of GAA1 expansion showed significant correlations with PT and MT values. The results of our study showed that FA patients had reduced cortical activation, involving both the motor and the visual cortex. The cortical involvement in these patients seems to be mainly genetically determined. The study provides the first evidence of cortical dysfunction in patients with genetically defined Friedreich ataxia.

The relapse rate of multiple sclerosis changes during pregnancy: a cohort study.

OBJECTIVE: To evaluate the influence of pregnancy and puerperium on the relapse rate of multiple sclerosis (MS). METHODS: We determined retrospectively the yearly mean relapse rate (MRR) during pregnancies occurring in the course of relapsing-remitting MS. We compared the MRR of pregnancy-time with that of non-pregnancy time by paired t-test. Relative risk (RR) of relapses during the pregnancy-time was also compared with that of non-pregnancy time by chi(2) analysis and 95% confidence intervals. RESULTS: From a population of 351 women affected by clinically definite MS, only 70 reported pregnancies during their relapsing-remitting phase of MS for a total of 98 pregnancies. Both MRR (P = 0.006) and RR (RR = 0.63, 95% CI = 0.40-0.94) decreased during the three trimesters of pregnancy. RR increased in the first 3 months of puerperium, although this was not statistically significant (RR = 1.36, 95% CI = 0.79-2.20). CONCLUSION: Our study confirms that in MS the relapse rate decreases throughout pregnancy and increases during puerperium. This suggests a complex interplay between hormonal and immune factors.

Pancreatic encephalopathy: a 7-year follow-up case report and review of the literature.

Pancreatic encephalopathy is a rare complication of acute pancreatitis. Clinical features include focal neurological signs and acute onset of dementia. This picture can fluctuate over time: cyclic progression with remission and relapses has been described. We present the case of a 43-year-old man who, after an acute episode of pancreatitis, experienced five relapses, with alternating focal signs. The patient has improved, but cognitive impairment persists after a 7-year follow-up.

Myasthenia gravis associated with Charcot-Marie-Tooth neuropathy: report of a case.

We report the case of a 24 year old woman who developed myasthenia gravis in the course of a mild form of Charcot-Marie-Tooth neuropathy. We describe the clinical manifestations together with the neurophysiological, pathological, serological findings and response to therapy and discuss the unusual association in the light of the relevant literature.

Brainstem auditory evoked potentials in patients with mitochondrial encephalomyopathy.

Brainstem auditory evoked potentials (BAEPs) were evaluated in three patients with mitochondrial encephalomyopathy belonging to the same family. This study showed marked alterations of BAEPs in all patients: reduction of wave amplitude, poor repeatability of responses in test-retest and abnormalities in wave form and latency. The neuroradiological examinations (CT-scan, MRI) did not show significant structural brain abnormalities. Abnormal BAEPs in our patients may be related to central metabolic disorder rather than hearing loss.

Ocular pseudomyasthenia: report of a case with a pineal region tumor.

A case presenting with clinical features of ocular myasthenia and a false-positive edrophonium test is reported. Brain CT and MRI scan revealed a pineal region tumor histologically verified as germinoma. We recommend evaluating patients with clinical features of myasthenia gravis (MG) confined to the ocular muscles for intracranial mass lesions.

Peripheral neuropathy in the hypereosinophilic syndrome: a case report.

We observed a patient with the hypereosinophilic syndrome that showed as a prominent clinical feature peripheral nerve dysfunction. The neuropathy evolved over 4 months and affected sensory and motor functions. Nerve conduction studies and EMG were compatible with axonal neuropathy. Nerve and muscle biopsies revealed severe axonal degeneration with neurogenic atrophy of muscle. Morphometry of peroneal nerve showed marked axonal loss, more prominent in large myelinated fibers. There was no evidence of vasculitis process. Neuropathy is produced by eosinophil-released substances exerting a neurotoxic effect through direct altered vascular endothelial permeability and local mast cell histamine release.

[Peripheral neuropathy during ocular myopathy: description of a case]. / Neuropatia periferica in corso di miopatia oculare: descrizione di un caso.

A case of ocular myopathy view presents only slight subjective symptoms, but a wide range of objective manifestations. The clinical features, but above all the morphological aspects of the muscle and the peripheral nerve presented by the patient, are briefly discussed, also in view of possible pathogenetic correlations.

[Alcoholic myopathy. Histochemical and ultrastructural study]. / La miopatia alcoolica. Studio istochimico ed ultrastrutturale.

Muscles of alcoholic rats undergo histochemical and ultrastructural study. Significative alterations have not been found. The authors compare their experimental data with analogous human pathology, pointing out the possible biochemical and immunological differences.

[Paroxysmal phenomena in multiple sclerosis. Clinico-instrumental study of a case]. / Fenomeni parossistici nella sclerosi multipla. Studio clinico strumentale di un caso.

A case of MS with paroxysmal attacks of disarthria, ataxia and double vision is described. The changes in EEG pattern during the attacks, give the opportunity to debate on the pathophysiology of the phenomen.

[Epilepsy and pregnancy: preliminary studies]. / Epilessia e gravidanza: alcune osservazioni preliminari.

The study concerns 17 clinical cases of epilepsy during the progress of 32 pregnancies. It is reported the frequency variations of epileptic fits, the eventual pharmacological adjustments and also some parameters of influence on the newborn. The result are briefly argued.