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ABSTRACT: 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.
Neurological Sciences 06/2009; 30(4):361-4. · 1.32 Impact Factor
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ABSTRACT: 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.
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.
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.
We identified a homozygous nonsense mutation in exon 6 of the ECM1 gene, C589T (Q197Ter).
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.
British Journal of Dermatology 12/2005; 153(5):1019-22. · 3.67 Impact Factor
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ABSTRACT: 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.
Journal of the Neurological Sciences 09/2005; 235(1-2):19-22. · 2.35 Impact Factor
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ABSTRACT: To evaluate the influence of pregnancy and puerperium on the relapse rate of multiple sclerosis (MS).
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.
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).
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.
Acta Neurologica Scandinavica 08/2004; 110(1):23-6. · 2.47 Impact Factor
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G. Salemi,
G. Callari,
M. Gammino,
F. Battaglieri,
E. Cammarata,
G. Cuccia,
D&apos,
M. Amelio, I. Lupo,
P. Ragonese,
G. Savettieri,
M. D'Amelio
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ABSTRACT: 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 χ2 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.
Acta Neurologica Scandinavica 06/2004; 110(1):23 - 26. · 2.47 Impact Factor
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ABSTRACT: 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.
Neurological Sciences 11/2002; 23(4):203-5. · 1.32 Impact Factor
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ABSTRACT: 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.
The Italian Journal of Neurological Sciences 07/1992; 13(5):431-3.
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ABSTRACT: 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.
Acta neurologica 07/1992; 14(3):163-72.
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ABSTRACT: 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.
The Italian Journal of Neurological Sciences 01/1992; 12(6):593-6.
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ABSTRACT: 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.
European Neurology 02/1989; 29(5):269-72. · 1.81 Impact Factor
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Bollettino della Società italiana di biologia sperimentale 09/1985; 61(8):1157-64.
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Acta neurologica 07/1982; 4(3):209-11.
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Acta neurologica. Quaderni 02/1979; 39:1-10.
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Acta neurologica 01/1979; 33(6):526-31.
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ABSTRACT: Mortality studies based on death certificates (DCs) are relatively inexpensive and easy to conduct. Therefore, they are frequently used to evaluate variations of geographical and temporal patterns, particularly in uncommon diseases. Recent surveys of motor neuron disease (MND) and multiple sclerosis (MS) based on official mortality statistics in Italy showed a decreasing trend of mortality from northern to southern Italy. To evaluate if DCs are homogeneously recorded in Italy and whether or not they can be considered a good instrument for mortality studies, we assessed the accuracy of DCs for MND and MS in the province of Palermo, Italy, and compared our results with those reported in other studies. We searched the archives of the neurological clinic of the University of Palermo for patients affected by one of the two diseases who were residents and were diagnosed in Palermo province. We found 157 patients with definite MND and 360 with clinically definite MS. Seventy-eight out of the 157 MND patients and 43 out of the 360 MS patients had died. Considering the underlying cause of death, the true-positive rate was 48% [95% confidence interval (CI) 36–60%] for MND and 46% (95% Cl 30–62%) for MS. The rates we found for MND were lower than those reported either in Italy or worldwide. This result suggests caution in formulating gradient hypotheses for MND. Concerning MS, the rate we found was low, but similar to that found by others. This indicates that a mortality survey of MS based on DCs is unlikely to be contributory.
Neuroepidemiology 08/1970; 21(3):148-152. · 2.31 Impact Factor
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Rivista di neurologia 51(4):206-26.
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Acta neurologica 9(5-6):328-33.
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Acta neurologica 9(5-6):334-8.
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ABSTRACT: 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.
Rivista di neurologia 58(4):137-9.
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Acta neurologica 32(4):389-98.
