C. Di Bonaventura

Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families.

AbstractIntroductionFamilial mesial temporal lobe epilepsy (FMTLE) is characterized by prominent psychic and autonomic seizures, often without hippocampal sclerosis (HS) or a previous history of febrile seizures (FS), and good prognosis. The genetics of this condition is largely unknown.We present the electroclinical and genetic findings of 15 MTLE Italian families.Patients and methodsFMTLE was defined when two or more first-degree relatives had epilepsy suggesting a mesial temporal lobe origin. The occurrence of seizures with auditory auras was considered an exclusion criterion. Patients underwent video-EEG recordings, 1.5-Tesla MRI particularly focused on hippocampal analysis, and neuropsychological evaluation. Genetic study included genotyping and linkage analysis of candidate loci at 4q, 18q, 1q, and 12q as well as screening for LGI1/Epitempin mutations.ResultsMost of the families showed an autosomal dominant inheritance pattern with incomplete penetrance. Fifty-four (32 F) affected individuals were investigated. Twenty-one (38.8 %) individuals experienced early FS. Forty-eight individuals fulfilled the criteria for MTLE. Epigastric/visceral sensation (72.9 %) was the most common type of aura, followed by psychic symptoms (35.4 %), and déjà vu (31.2 %). HS occurred in 13.8% of individuals, three of whom belonged to the same family. Prognosis of epilepsy was generally good. Genetic study failed to show LGI1/Epitempin mutations or significative linkage to the investigated loci.DiscussionFMTLE may be a more common than expected condition, clinically and genetically heterogeneous. Some of the reported families, grouped on the basis of a specific aura, may represent an interesting subgroup on whom to focus future linkage studies.

Intravenous Levetiracetam as first-line treatment of status epilepticus in the elderly.

Fattouch J, Di Bonaventura C, Casciato S, Bonini F, Petrucci S, Lapenta L, Manfredi M, Prencipe M, Giallonardo AT. Intravenous Levtiracetam as first‐line treatment of status epilepticus in the elderly. Acta Neurol Scand: 2010: 121: 418–421.
© 2010 John Wiley & Sons A/S.

LGI1 gene mutation screening in sporadic partial epilepsy with auditory features.

Partial epilepsy with auditory features occasionally segregates in families as an autosomal dominant trait. In some families mutations in the leucine-rich glioma inactivated (LGI1) gene have been identified. Sporadic cases might harbour either denovo or low-penetrant LGI1 mutations, which will substantially alter the family risk for epilepsy.We selected sixteen sporadic patients with cryptogenic temporal lobe epilepsy and partial seizures with auditory features. We compared clinical features of these patients with those of published autosomal dominant family cases. We screened these patients for LGI1 mutations.Comparing the sporadic patients with the published familial cases no difference in either the primary auditory features or in the other associated epileptic manifestations was identified. Sequence analysis of the whole LGI1 gene coding regions in sporadic patients did not reveal changes in the LGI1 gene.The genetic analysis demonstrates that LGI1 is not a major gene for sporadic cases of partial epilepsy with auditory features at least in the Italian population. Screening of sporadic patients for LGI1 mutations appears not useful in genetic counselling of these patients.

Status epilepticus in epileptic patients: Related syndromes, precipitating factors, treatment and outcome in a video-EEG population-based study

INTRODUCTION Status epilepticus (SE) is frequently observed in epileptic patients. We reviewed a series of video-EEG documented SE to define the characteristics of SE in this population. MATERIALS AND METHODS Retrospective evaluation of 50 epileptic patients with SE, revision of the electro-clinical data and therapies, and definition of the semeiological subtypes, aetiology, outcome and related epileptic syndromes. RESULTS We identified 28 convulsive (19 focal and 9 generalized) and 22 non-convulsive (8 focal and 14 generalized) SE patients. In 13 patients, SE was situation-related (poor compliance, AED reduction, worsening seizures). In the remaining 37 patients, SE was related to the natural history of epilepsy (progression of underlying pathologies or intrinsic expression of epileptic syndromes); in these last cases, our results show a higher occurrence in cryptogenic frontal epilepsy (p=0.01). We identified two subgroups according to the duration of the event, i.e. SE lasting <12h and SE lasting >12h. Our results showed a worse response to therapy in SE lasting >12h (p=0.01), a better response to therapy in non-convulsive SE than in convulsive SE (p<0.05) and a relationship at statistical significance limit between a poor response to therapy/worse outcome and symptomatic epileptic syndromes (p=0.06). CONCLUSION SE in epileptic patients has a wide spectrum of electro-clinical features. It may be related to the withdrawal or reduction of AEDs, or may even be the expression of the evolution of epileptic syndromes. Response to therapy is dependent on early diagnosis and therapy.

Use of levetiracetam in treating epilepsy associated with other medical conditions

Objective –  This prospective, open‐label study was conducted to evaluate the effectiveness, tolerability, and safety of levetiracetam in patients with epilepsy in whom unfavorable metabolism, complex drug interactions, or direct toxic effects of antiepileptic drugs (AEDs) had caused a worsening of comorbid conditions.

Neuropsychiatric adverse events of antiepileptic drugs in brain tumour-related epilepsy: an Italian multicentre prospective observational study

We assessed the prevalence and magnitude of neuropsychiatric adverse events (NPAEs) associated with antiepileptic drugs (AEDs) among patients with brain tumour‐related epilepsy (BTRE).

Insight into epileptic and physiological déjà vu: from a multicentric cohort study

The presence of a continuum between physiological déjà vu (DV) and epileptic DV is still not known as well as epidemiological data in the Italian population. The aim was to identify the epidemiological distribution of DV in Italy, and secondly to look for specific features of DV able to discriminate between epileptic and non‐epileptic DV.

Obstructive hydrocephalus mimicking a normal pressure condition as unusual presentation of basilar artery aneurysm: a case report

Hydrocephalus (HC) may be defined not as a single clinical entity but as a complex pathophysiological condition of altered cerebrospinal fluid (CSF) dynamics, characterised by various aspects and aetiologies [1, 2]. The most common cause of HC is CSF flow obstruction, which hinders the flow of CSF through the ventricular system and subarachnoid space [2–4]. HC can also be caused by the overproduction of CSF (relative obstruction). Acute HC can clinically occur with signs and symptoms of increased intracranial pressure (including headache, vomiting, nausea, papilledema, sleepiness or coma). By contrast, the onset of chronic ventricular dilatation (especially in the elderly) may be more insidious. This pathology may, for instance, present with the Adams triad (consisting of gait instability, urinary incontinence and dementia), which is a relatively typical manifestation of normal pressure hydrocephalus (NPH)—a distinct entity that can be treated by surgery. This last condition can mimic and interact with other common disorders of the elderly, such as vascular dementia, Alzheimer disease and other types of neurodegenerative conditions that lead to progressively evolving cognitive and motor impairment. NPH patients may become aware of a gradual change, over months, in gait, balance, urinary symptoms, cognitive speed and attentive deficit, as well as of mood disorders and loss of interest in daily activities. The degree of cognitive impairment and the specific domains affected most also vary greatly. Diagnosis relies on neuroimaging, which usually results in an early diagnosis. We present the case of a 78-year-old woman with hypertension and dysthyroidism, who was referred to our neurological clinic because of a slowly progressive cognitive impairment associated with mild gait imbalance, increasing forgetfulness and urinary incontinence. Clinical findings also included lack of initiative and dizziness. According to both the patient and her relatives, these clinical signs had first appeared approximately 1 year before, and had progressively worsened in the preceding months. The neurological examination showed mild gait ataxia, slight rigidity involving the limbs and initial signs of cognitive impairment, though no other deficits in motor, sensory or cerebellar functions. On the basis of a clinical suspicion of NPH, the patient underwent a brain MRI scan which unexpectedly revealed a basilar artery aneurysm (1.7 9 2.1 cm) compressing the adjacent structures (particularly the third and fourth S. Casciato C. Di Bonaventura (&) J. Fattouch L. Lapenta A. T. Giallonardo Department of Neuroscience, Neurology Unit, ‘‘Sapienza’’ University, Rome, Italy e-mail: c_dibonaventura@yahoo.it