12 results on '"Lara Alvisi"'
Search Results
2. FDG-PET findings and alcohol-responsive myoclonus in a patient with Unverricht-Lundborg disease
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Lorenzo Muccioli, Andrea Farolfi, Federica Pondrelli, Eleonora Matteo, Lorenzo Ferri, Laura Licchetta, Lara Alvisi, Paolo Tinuper, Francesca Bisulli, Muccioli, Lorenzo, Farolfi, Andrea, Pondrelli, Federica, Matteo, Eleonora, Ferri, Lorenzo, Licchetta, Laura, Alvisi, Lara, Tinuper, Paolo, and Bisulli, Francesca
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Behavioral Neuroscience ,Neurology ,Neurology (clinical) ,UnverrichtLundborg disease ,FDG-PET ,progressive myoclonus epilepsy - Abstract
The aim of this report is to describe clinical, EEG, and neuroimaging findings in a patient with UnverrichtLundborg disease (ULD), the most common form of progressive myoclonus epilepsy (PME). A 23-year-old male with genetically confirmed ULD had a phenotype consisting of myoclonus, generalized seizures, intellectual disability, ataxia, and dysarthria. Myoclonus and gait disturbance were strongly ameliorated by alcohol consumption. EEG revealed a posterior dominant rhythm with alpha variant, mild bilateral slowing, and anterior-predominant epileptiform abnormalities. Brain MRI showed mild cerebellar atrophy. FDG-PET revealed hypometabolism more prominent in the posterior brainstem, thalami, frontal and parietal lobes. This report confirms that alcohol may ameliorate myoclonus in a subset of patients with PME, including genetically confirmed ULD. In addition, the presence of FDG-PET hypometabolism predominant in the frontoparietal region and thalami has not been previously described in ULD, yet is consistent with previous brain morphometry studies showing motor cortex and thalamic atrophy in ULD, and brings into question the possibility of a shared metabolic pattern with other PMEs, notably Lafora disease. (c) 2022 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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- 2022
3. Ictal vasodepressive syncope in temporal lobe epilepsy
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Maria Angela Ribani, Laura Licchetta, Francesca Bisulli, Paolo Tinuper, Lara Alvisi, Pietro Cortelli, Vincenzo Mastrangelo, Veronica Menghi, Giorgio Barletta, Lorenzo Muccioli, Mastrangelo V., Bisulli F., Muccioli L., Licchetta L., Menghi V., Alvisi L., Barletta G., Ribani M.A., Cortelli P., and Tinuper P.
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medicine.medical_specialty ,medicine.diagnostic_test ,biology ,business.industry ,Syncope (genus) ,Electroencephalography ,medicine.disease ,biology.organism_classification ,Sensory Systems ,Temporal lobe ,Epilepsy ,Neurology ,syncope ,Physiology (medical) ,Internal medicine ,Cardiology ,medicine ,epilepsy ,Ictal ,Neurology (clinical) ,business - Abstract
N.A. (Letter)
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- 2020
4. Electroencephalography at the time of Covid-19 pandemic in Italy
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Lidia Broglia, Lorenzo Ricci, Giovanni Assenza, Lara Alvisi, Carlo Andrea Galimberti, Mario Tombini, Jacopo Lanzone, Vincenzo Di Lazzaro, Marilisa Boscarino, Oriano Mecarelli, and Laura Tassi
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medicine.medical_specialty ,Neurology ,medicine.diagnostic_test ,business.industry ,Clinical Neurology ,Polysomnography ,Dermatology ,General Medicine ,Electroencephalography ,medicine.disease ,Clinical neurophysiology ,03 medical and health sciences ,Epilepsy ,Psychiatry and Mental health ,0302 clinical medicine ,Health care ,Pandemic ,medicine ,030212 general & internal medicine ,Neurology (clinical) ,Medical emergency ,Neurosurgery ,business ,030217 neurology & neurosurgery - Abstract
During the Covid-19 pandemic, government restrictions limited health care to urgent needs. Neurophysiology centers had to suddenly reschedule their activities, with a lack of specific recommendations about electroencephalography (EEG) execution. During the pandemic phase 1, we launched an online survey to understand the flaws and strengths of the EEG management in Italy at the time of Covid-19 pandemic. A 45-item online survey (published from April 16 to 30, 2020), endorsed by the Italian Society of Clinical Neurophysiology (SINC), the Italian League Against epilepsy (LICE), and the Italian Association of Neurophysiology technologists (AITN), collected EEG management data (EEG’s number and type, indications, personnel and patients safety, devices’ sanification) during the Covid-19 pandemic. We received responses from 206 centers. The number of EEGs performed was reduced by 76 ± 20%, and several types of specific EEG (video-EEG, ambulatory-EEG, LTM, polysomnography) were reduced at a minimum. Half of the centers performed inpatient EEGs only for urgencies. Repetitive seizures, encephalitis, and non-convulsive status epilepticus were the most common indications. Covid-19-positive patients received less EEG than negative ones (p
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- 2020
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5. Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene
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Paolo Tinuper, Raffaella Minardi, Laura Licchetta, Enrico Ambrosini, Maria Chiara Baroni, Giulia Severi, Barbara Mostacci, Lara Alvisi, Francesca Bisulli, Vincenzo Mastrangelo, Francesco Toni, Mastrangelo V., Minardi R., Baroni M.C., Severi G., Ambrosini E., Toni F., Alvisi L., Licchetta L., Bisulli F., Tinuper P., and Mostacci B.
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medicine.medical_specialty ,Mutation, Missense ,Compound heterozygosity ,Jeavons syndrome ,NSD1 ,Overgrowth ,Epilepsy ,medicine ,Humans ,Missense mutation ,Macrocephaly ,Generalized epilepsy ,Sotos Syndrome ,Sotos syndrome ,business.industry ,Intracellular Signaling Peptides and Proteins ,Eyelids ,General Medicine ,medicine.disease ,Dermatology ,eye diseases ,Cytoskeletal Proteins ,Phenotype ,Neurology ,Eyelid myoclonias ,Neurology (clinical) ,medicine.symptom ,business - Abstract
Epilepsy with eyelid myoclonias, originally depicted by Jeavons in 1977, is a reflex epilepsy characterized by jerking of the eyelids with or without absences precipitated by eye closure or by light (eyelid myoclonia, EM), eye closure-induced EEG paroxysms and photosensitivity. Childhood-onset, female predominance and a normal development are typical features, though a mild intellectual disability has been reported. Sotos syndrome is a disorder characterized by a distinctive facial appearance, learning disability and overgrowth in childhood with macrocephaly, caused by heterozygous pathogenic variants or deletions in NSD1 gene. Generalized and focal seizures have been reported in up to 25 % of patients, though EM was never documented. Here we report the novel association of Epilepsy with EM and Sotos syndrome features in a patient with two likely pathogenic missense variants in APC2 gene.
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- 2020
6. Long term follow-up of recurrent Status Epilepticus and Stroke-Like Episodes in a MELAS family
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Valerio Carelli, Chiara La Morgia, Lorenzo Muccioli, Lidia Di Vito, Paolo Tinuper, Lara Alvisi, Laura Licchetta, Francesca Bisulli, and Marco Zanello
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Pediatrics ,medicine.medical_specialty ,Long term follow up ,business.industry ,Status epilepticus ,medicine.disease ,Behavioral Neuroscience ,Epilepsy ,Neurology ,Stroke like episodes ,medicine ,Neurology (clinical) ,medicine.symptom ,business - Published
- 2019
7. Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations
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Francesca Bisulli, Sara Baldassari, Barbara Mostacci, Carlotta Stipa, Paolo Tinuper, Tommaso Pippucci, Lara Alvisi, Lidia Di Vito, Laura Licchetta, Di Vito, Lidia, Licchetta, Laura, Pippucci, Tommaso, Baldassari, Sara, Stipa, Carlotta, Mostacci, Barbara, Alvisi, Lara, Tinuper, Paolo, and Bisulli, Francesca
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Adult ,Male ,0301 basic medicine ,Proband ,Microcephaly ,Pediatrics ,medicine.medical_specialty ,Ataxia ,Monosaccharide Transport Proteins ,medicine.medical_treatment ,Encephalopathy ,SLC2A1 mutation ,Glucose transporter type I deficiency syndrome ,Nonepileptic paroxysmal phenomena ,medicine.disease_cause ,03 medical and health sciences ,Epilepsy ,Behavioral Neuroscience ,0302 clinical medicine ,Seizures ,medicine ,Humans ,Glucose Transporter Type 1 ,Mutation ,business.industry ,Genetic heterogeneity ,Genetic Variation ,medicine.disease ,Phenotype ,030104 developmental biology ,Neurology ,Epilepsy, Generalized ,Female ,Neurology (clinical) ,medicine.symptom ,business ,030217 neurology & neurosurgery ,Carbohydrate Metabolism, Inborn Errors ,Ketogenic diet - Abstract
Glucose transporter type 1 (GLUT1) deficiency due to SLC2A1 mutations causes a wide spectrum of neurologic disorders ranging from severe encephalopathy with developmental delay, epilepsy, ataxia, and acquired microcephaly to atypical less severe variants. Early diagnosis is crucial for prompt initiation of a ketogenic diet. Recognizing GLUT1 deficiency syndrome (GLUT1DS) may be challenging and results in delayed diagnosis. Here we describe the clinical and molecular findings of patients with SLC2A1 mutations referred to our adult Epilepsy Center. Patients with a clinical history suggestive of GLUT1DS were screened for SLC2A1 mutations. Blood samples were collected from probands and first-degree relatives. A lumbar puncture was performed in two patients in fasting state, and cerebrospinal fluid and blood glucose measurement were undertaken at the same time. Since 2010, 19 GLUT1DS probands have been screened for SLC2A1 mutations. We identified four different SLC2A1 mutations in three sporadic cases and one family. Three mutations (c.130_135delTACAAC, c.342_343insA, and c.845A > G) were novel, whereas one was previously reported in the literature associated with a different phenotype (c.497_499delTCG). Here we describe a small case series of patients with sporadic and familial GLUT1DS presenting with a broad phenotypic heterogeneity which is likely to be responsible for the considerable delay in diagnosis.
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- 2018
8. Narcolepsy Type 1 and Idiopathic Generalized Epilepsy: Diagnostic and Therapeutic Challenges in Dual Cases
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Paolo Tinuper, Geert Mayer, Lucia Toscani, Fabio Pizza, Stefano Vandi, Giuseppe Plazzi, Elena Zambrelli, Simone Baiardi, Lara Alvisi, Baiardi, Simone, Vandi, Stefano, Pizza, Fabio, Alvisi, Lara, Toscani, Lucia, Zambrelli, Elena, Tinuper, Paolo, Mayer, Geert, and Plazzi, Giuseppe
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Pulmonary and Respiratory Medicine ,Adult ,Male ,medicine.medical_specialty ,Pediatrics ,Video eeg ,Sodium Oxybate ,Polysomnography ,Idiopathic generalized epilepsy ,Epilepsy ,Young Adult ,medicine ,Humans ,Generalized epilepsy ,Psychiatry ,Narcolepsy ,business.industry ,Electroencephalography ,DUAL (cognitive architecture) ,narcolepsy type 1 ,sodium oxybate ,video-EEG ,medicine.disease ,Scientific Investigations ,Treatment Outcome ,Neurology ,Anticonvulsants ,Epilepsy, Generalized ,Neurology (clinical) ,business - Abstract
The aim of this study is to describe the possible co-occurrence of narcolepsy type 1 and generalized epilepsy, focusing on diagnostic challenge and safety of dual treatments.Four patients with comorbidity for narcolepsy type 1 and idiopathic generalized epilepsy are reported: in three cases the onset of epilepsy preceded narcolepsy type 1 appearance, whereas in one case epileptic spells onset was subsequent. Patients presented with absences, myoclonic and tonic-clonic seizure type: in the patient with tonic-clonic seizures the dual pathology was easily recognized, in the other cases the first diagnosis caused the comorbid disease to be overlooked, independent of the time-course sequence. All four patients underwent neurological examination, video-electroencephalogram during which ictal and interictal epileptic discharges were recorded, and sleep polysomnographic studies. Repeated sleep onset rapid eye movement periods (SOREMPs) were documented with the multiple sleep latency test (MLST) in all the four cases. All patients had unremarkable brain magnetic resonance imaging studies and cerebrospinal hypocretin-1 was assessed in two patients, revealing undetectable levels. The association of antiepileptic drugs and substances currently used to treat narcolepsy type 1, including sodium oxybate, was effective in improving seizures, sleep disturbance, and cataplexy.Narcolepsy type 1 may occur in association with idiopathic generalized epilepsy, leading to remarkable diagnostic and therapeutic challenges. Electrophysiological studies as well as a comprehensive somnologic interview can help confirm the diagnosis in patients with ambiguous neurological history. Sodium oxybate in combination with antiepileptic drugs is safe and effective in treating cataplexy and excessive daytime sleepiness.
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- 2015
9. A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype
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Laura Licchetta, Nicola Vanni, Ilaria Naldi, Paolo Tinuper, Paolo Martinelli, Gaetano Cantalupo, Francesca Bisulli, Sara Baldassari, Pamela Magini, Rocco Liguori, Lara Alvisi, Tommaso Pippucci, Marco Seri, Laura Licchetta, Tommaso Pippucci, Francesca Bisulli, Gaetano Cantalupo, Pamela Magini, Lara Alvisi, Sara Baldassari, Paolo Martinelli, Ilaria Naldi, Nicola Vanni, Rocco Liguori, Marco Seri, and Paolo Tinuper
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Adult ,Gait Ataxia ,Male ,medicine.medical_specialty ,Genetic Linkage ,Locus (genetics) ,Epilepsies, Myoclonic ,Genetic analysis ,Epilepsy ,Young Adult ,Genetic linkage ,Internal medicine ,Evoked Potentials, Somatosensory ,medicine ,Humans ,familial cortical myoclonic tremor and epilepsy (FCMTE) ,Genetics ,Electromyography ,Haplotype ,Chromosome Mapping ,Electroencephalography ,Middle Aged ,medicine.disease ,Pedigree ,Neurology ,Haplotypes ,Somatosensory evoked potential ,Chromosomes, Human, Pair 2 ,Chromosomes, Human, Pair 5 ,Female ,Neurology (clinical) ,medicine.symptom ,Psychology ,Myoclonus ,Founder effect - Abstract
Summary Purpose We describe the clinical, neurophysiologic, and genetic features of a new, large family with familial cortical myoclonic tremor and epilepsy (FCMTE). Methods Reliable clinical information was obtained on the 127 members. Thirty-one collaborative individuals were assessed by a detailed clinical interview and a complete neurologic examination. A polygraphic study was conducted in 15 patients, back-averaging analysis and somatosensory evoked potentials with C-reflex study in four. The genetic study investigated 30 subjects with microsatellite markers at three loci on chromosomes 8q (FCMTE1), 2p (FCMTE2), and 5p (FCMTE3). Key Findings The pedigree included 25 affected members (M/F: 9/16). We studied 16 of the 19 living affected members (M/F: 5/11; mean age 47.8 years). Cortical myoclonic tremor (CMT) was associated with generalized seizures in 10 patients (62.5%). The mean age at onset of CMT and seizures was 28.1 and 33.8 years, respectively. Four patients (25%) reported a slow progression of CMT, with severe gait impairment in one. Psychiatric disorders of variable severity recurred in 37.5% of cases. Rhythmic bursts at 7–15 Hz were recorded in all 11 affected members tested. Additional neurophysiologic investigations disclosed a cortical origin of myoclonus in all patients tested. Generalized epileptiform discharges were recorded in 25% of cases, and a photoparoxysmal response in 31%. Genetic analysis established linkage to the FCMTE2 locus on chromosome 2p11.1-2q12.2 (OMIM 607876) and narrowed the critical interval to a 10.4 Mb segment. Haplotype analysis in the present family identified a founder haplotype identical to that previously observed in families from the same geographic area. Significance This study confirms evidence of a founder effect in Italian families and reduces the number of positional candidate genes in the FCMTE2 locus to 59, thereby contributing to future gene identification by Next Generation Sequencing approaches.
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- 2013
10. A novel intronic variant of SCN1A gene responsible for severe epileptic encephalopathy with refractory status epilepticus
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Lara Alvisi, Giuseppe Gobbi, Federico Zara, Laura Licchetta, Elena Gennaro, Paolo Tinuper, Francesca Bisulli, Carlotta Stipa, and A. Pini
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medicine.medical_specialty ,Neurology ,Refractory ,business.industry ,Internal medicine ,Sodium channel gene ,Epileptic encephalopathy ,medicine ,Neurology (clinical) ,Status epilepticus ,medicine.symptom ,business ,Gastroenterology - Published
- 2013
11. Familial cortical myoclonic tremor and epilepsy (FCMTE): Refinement of the fcmte2 locus and confirmation of a founder haplotype
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Gaetano Cantalupo, Paolo Tinuper, Ilaria Naldi, Paolo Martinelli, Francesca Bisulli, Federico Zara, Rocco Liguori, Tommaso Pippucci, Lara Alvisi, Laura Licchetta, and Marco Seri
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Genetics ,Epilepsy ,Neurology ,Haplotype ,medicine ,Locus (genetics) ,Neurology (clinical) ,Biology ,medicine.disease - Published
- 2013
12. Erratum
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Francesca Bisulli, Paolo Tinuper, Laura Licchetta, Ilaria Naldi, Sara Baldassari, Nicola Vanni, Lara Alvisi, Gaetano Cantalupo, Paolo Martinelli, Rocco Liguori, Tommaso Pippucci, Marco Seri, and Pamela Magini
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Genetics ,Epilepsy ,Neurology ,business.industry ,Haplotype ,Medicine ,Locus (genetics) ,Neurology (clinical) ,business ,medicine.disease - Published
- 2013
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