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Rasmussen encephalitis (RE) is a rare but severe immune-mediated brain disorder leading to unilateral hemispheric atrophy, associated progressive neurological dysfunction and intractable seizures. Recent data on the pathogenesis of the disease, its clinical and paraclinical presentation, and therapeutic approaches are summarized. Based on these data, we(More)
Rasmussen's encephalitis (RE) is a rare condition characterized by drug-resistant seizures, recurrent status epilepticus and progressive lateralized neurological deterioration. There is evidence of autoimmune involvement in the pathogenesis. We investigated the presence of anti-GluR3 antibodies against peptides A and B in patients with RE (n=11), partial(More)
Spinal and bulbar muscular atrophy (Kennedy disease) is an adult form of X-linked motor neuron disease caused by the expansion of a polymorphic CAG-repeat sequence in the first exon of the androgen receptor gene. We studied clinical and molecular features of 36 patients and 19 heterozygous females. Phenotypic manifestations and disease severity broadly(More)
OBJECTIVE To define the clinical and EEG features of the epileptic syndromes occurring in adult and infantile mitochondrial encephalopathies (ME). METHODS Thirty-one patients with recurrent and apparently unprovoked seizures associated with primary ME were included in the study. Diagnosis of ME was based on the recognition of a morphologic, biochemical,(More)
The authors investigated immunomodulatory treatments in 15 patients with Rasmussen encephalitis (RE) (14 with childhood and one with adolescent onset RE). Positive time-limited responses were obtained in 11 patients using variable combinations of corticosteroids, apheresis, and high-dose IV immunoglobulins. Although surgical exclusion of the affected(More)
We report that long-term selective immunoglobulin G immunoadsorption by protein A (PAI) improved seizure frequency and neuropsychological deficits in a 16-year-old patient with severe treatment-resistant Rasmussen's encephalitis (RE). Clinical improvement correlated with reduction of antiglutamate receptor 3 antibodies. The efficacy of PAI in our patient(More)
Isolated Complex I (CI) deficiency, the most frequent cause of mitochondrial disease, is a clinically and genetically heterogeneous condition. Complex I is a giant multiheteromeric enzyme composed of seven ND subunits encoded by mitochondrial DNA (mtDNA) genes, and at least 38 subunits encoded by nuclear genes. To establish the contribution to human(More)
Aim of this study is to verify whether there is concordance between disease's severity, health-related quality of life (HRQoL) and disability in patients with myasthenia gravis (MG). 102 MG patients were clustered on the basis of HRQoL and disability scores into three groups: low disability and low HRQoL decrement (51 patients), intermediate disability and(More)
Azathioprine (Aza) has been used alone or in combination with steroids for two groups of myasthenic patients. Positive responses were noted in 75% of patients on Aza alone and in 70% receiving the combined regimen. The clinical course of the two groups differed in terms of respiratory crisis and need for plasma exchange. With an appropriate Aza(More)
Primary cardiomyopathy is an important cause of mortality in children and adults. Apart from inherited disorders of myocardial contractile and structural proteins, several defects of energy metabolism may cause cardiomyopathy. Most of the energy required for myocardial contraction is derived from aerobic metabolism. Faulty aerobic metabolism involving the(More)