Adriana Magaudda

Antimyoclonic Effect of Levetiracetam in 13 Patients with Unverricht–Lundborg Disease: Clinical Observations

Summary:  Purpose: Disabling myoclonus is the main symptom in long‐standing Unverricht–Lundborg disease (ULD), and levetiracetam (LEV) appears to be an effective anticonvulsant with promising short‐term antimyoclonic properties.

Bilateral occipital calcification, epilepsy and coeliac disease: clinical and neuroimaging features of a new syndrome.

Twenty patients affected by bilateral occipital cortical-subcortical calcification (BOC) are described, 19 (95%) had epilepsy. In 8 of 16 cases studied, intestinal biopsy revealed coeliac disease. Fourteen patients had occipital partial epilepsy with a relatively benign outcome, while 4 patients were affected by a severe form of epilepsy, with very frequent, drug-resistant, generalised and partial seizures with mental deterioration. One patient had a single episode of convulsive status epilepticus at four months of age. The neurological examination was normal in all patients. CT showed flocculo-nodular, cortico-subcortical BOC, without enhancement and without lobar or hemispheric atrophy. MRI was normal. The clinical and neuroimaging features of these patients are different therefore from those with the Sturge-Weber Syndrome. The study confirms a high prevalence of coliac disease in patients with BOC, but the relationship between these two pathologies still needs to be clarified.

Unverricht-Lundborg Disease, a Condition with Self-limited Progression: Long-term Follow-up of 20 Patients

Summary:  Purpose: To assess the long‐term evolution of Unverricht–Lundborg disease (ULD), especially concerning myoclonus, seizures, and EEG characteristics.

Rhythmic teeth grinding induced by temporal lobe seizures

The authors report the clinical and polygraphic features of rhythmic teeth grinding observed in a patient as the predominant symptom related to temporal lobe seizures during sleep and wakefulness. This observation demonstrates that exceptionally a teeth-grinding event can be not only a parasomnia (sleep bruxism) but also an epileptic-related motor event. Electromyographic and autonomic features of seizure-related teeth grinding support the interpretation of this motor phenomenon as a particular form of masticatory activity.

Progressive myoclonic epilepsies Definitive and still undetermined causes

Objective: To define the clinical spectrum and etiology of progressive myoclonic epilepsies (PMEs) in Italy using a database developed by the Genetics Commission of the Italian League against Epilepsy. Methods: We collected clinical and laboratory data from patients referred to 25 Italian epilepsy centers regardless of whether a positive causative factor was identified. PMEs of undetermined origins were grouped using 2-step cluster analysis. Results: We collected clinical data from 204 patients, including 77 with a diagnosis of Unverricht-Lundborg disease and 37 with a diagnosis of Lafora body disease; 31 patients had PMEs due to rarer genetic causes, mainly neuronal ceroid lipofuscinoses. Two more patients had celiac disease. Despite extensive investigation, we found no definitive etiology for 57 patients. Cluster analysis indicated that these patients could be grouped into 2 clusters defined by age at disease onset, age at myoclonus onset, previous psychomotor delay, seizure characteristics, photosensitivity, associated signs other than those included in the cardinal definition of PME, and pathologic MRI findings. Conclusions: Information concerning the distribution of different genetic causes of PMEs may provide a framework for an updated diagnostic workup. Phenotypes of the patients with PME of undetermined cause varied widely. The presence of separate clusters suggests that novel forms of PME are yet to be clinically and genetically characterized.

Long-term evolution of EEG in Unverricht-Lundborg disease.

PURPOSE Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy characterized by myoclonus, epilepsy, and ataxia, without major cognitive decline. There is no systematic study on the long-term evolution of EEG in this condition. PATIENTS AND METHODS Twenty-five patients with ULD who came to our observation before 1995 and periodically followed in our Epilepsy Centres were included. All waking EEG traces were visually reviewed for the characterization background activity, with particular regard to the frequency of the posterior dominant rhythm (PR), and for the occurrence of spontaneous generalized spike or polyspike and wave discharges (GSWD) and photoparoxysmal response (PPR). Sleep recordings were analyzed with particular regard to the preservation of the physiological sleep patterns and the occurrence of GSWD and other epileptic abnormalities. RESULTS PR was normal in 68% of patients at the beginning of the disease and kept stable over the years. GSWD were present in 92% of patients at the onset of the disease and gradually disappeared during the follow-up with a significant difference (p<0.001) after the 15th year of disease. PPR was present in 88% of patients at the disease onset and gradually disappeared with a significant difference (p<0.001) after the 10th year of disease. A gradual reduction of GSWD and a progressive disappearance of physiological sleep patterns were observed in sleep EEGs. CONCLUSION In patients with ULD followed for an extended period of time, EEG shows no relevant deterioration of BA while a gradual reduction of GSWD and PPR is observed over time, well correlating with the good seizure outcome in this condition.

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations

Purpose:  Mutations of the SCARB2 gene cause action myoclonus renal failure syndrome (AMRF), a rare condition that combines progressive myoclonus epilepsy (PME) with severe renal dysfunction. We describe the clinical and neurophysiologic features of PME associated with SCARB2 mutations without renal impairment.

Identification of three distinct groups of patients with both epilepsy and psychogenic nonepileptic seizures

Psychogenic nonepileptic seizures (PNES) can be observed in patients with or without epilepsy (mixed and pure PNES). Patients with mixed PNES are usually considered to be a homogeneous group characterized by the coexistent epilepsy. Our study found that patients with mixed PNES were not homogeneous, but could be divided into three groups based on epilepsy type, mental level, comorbid psychiatric disorders, and history of traumatic experiences. Group 1 patients have pharmacoresistant epilepsy, normal cognition, and comorbid anxiety and/or depressive disorders. Here, PNES etiology is the epilepsy-related problems. In group 2 patients, the epilepsy is associated with mental retardation and dependent personality traits. PNES etiology is represented by the reduction or cessation of seizures. The PNES allow patients to continue receiving attention from caregivers. Group 3 patients have epilepsy, normal cognition, comorbid cluster B personality disorders and anxiety disorders, and psychic trauma. Here, PNES etiology is not related to the epilepsy, but to the psychic trauma.

The semiology of psychogenic nonepileptic seizures revisited: Can video alone predict the diagnosis? Preliminary data from a prospective feasibility study

To investigate if, when, and to what extent visual information contained in a video‐recorded event allows experienced epileptologists to predict the diagnosis of psychogenic nonepileptic seizures (PNES) without the aid of electroencephalography (EEG).

Brivaracetam in Unverricht‐Lundborg disease (EPM1): Results from two randomized, double‐blind, placebo‐controlled studies

To evaluate efficacy, tolerability, and safety of adjunctive brivaracetam (BRV) in patients with Unverricht‐Lundborg disease (EPM1).