The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.

Background: In 1969, Dazzi and Finizio reported the second observation of frontotemporal dementia (FTD) - amyotrophic lateral sclerosis (ALS) association in a large Italian kindred affected by an autosomal dominant form of ALS with high penetrance, frequent bulbar onset, and frequent cognitive decline.

Objective: To expand the original characterization of this family and report the link with the C9orf72 repeat expansion (RE).

Methods: We followed or reviewed the medical records of thirteen patients belonging to the original family and performed genetic analyses in four individuals.

The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.

Objective: We explored the long-term follow-up of continuous spike-and-wave complexes during sleep (CSWS) in polymicrogyria and the anatomic volumetric variables that influence the risk of developing this age-related epileptic encephalopathy.

Methods: We performed prospective follow-up of 27 patients with polymicrogyria/CSWS (mean follow-up 14.3 years; range 2-31 years) and comparative volumetric analysis of the polymicrogyric hemispheres and ipsilateral thalami vs 3 subgroups featuring polymicrogyria without CSWS, benign rolandic epilepsy (BRE), and headache.

Pattern of care and effectiveness of treatment for glioblastoma patients in the real world: Results from a prospective population-based registry. Could survival differ in a high-volume center?

Background: As yet, no population-based prospective studies have been conducted to investigate the incidence and clinical outcome of glioblastoma (GBM) or the diffusion and impact of the current standard therapeutic approach in newly diagnosed patients younger than aged 70 years.

Methods: Data on all new cases of primary brain tumors observed from January 1, 2009, to December 31, 2010, in adults residing within the Emilia-Romagna region were recorded in a prospective registry in the Project of Emilia Romagna on Neuro-Oncology (PERNO). Based on the data from this registry, a prospective evaluation was made of the treatment efficacy and outcome in GBM patients.

Paroxysmal bipedal activity during syncope related to carotid body tumor.

Involuntary patterned motor activity may occur during seizures, especially those of frontal lobe origin, and during transient ischemic attacks. Paroxysmal patterned motor activity in frontal lobe epilepsy has been attributed to direct involvement of mesial frontal regions by the epileptic discharge. Paroxysmal bipedal frenetic activity occurred during an episode of syncope in a patient with a carotid body tumor.

Sleep-related hypermotor seizures in aspartylglucosaminuria: a case report.

From the age of 24 years a young man with a definitive diagnosis of aspartylglucosaminuria (AGU) presented short-lasting sleep-related paroxysmal events characterized by sudden awakening with a frightened look, hyperventilation, and complex bilateral motor activity. Nocturnal video-polysomnography recorded several events consistent with a diagnosis of hypermotor epileptic seizures. This pattern of sleep-related epileptic seizures has been reported in rare familial cases, more often in cryptogenic and symptomatic patients in the spectrum of nocturnal frontal lobe epilepsy.

Variation in lamotrigine plasma concentrations with hormonal contraceptive monthly cycles in patients with epilepsy.

Purpose: This is the first report comparing intrasubject lamotrigine (LTG) plasma concentrations between hormonal contraceptive (HC) intake and week-off phases in epilepsy patients receiving combined LTG and HC treatment. We describe the variation in LTG plasma concentrations with hormonal contraceptive (HC) monthly intake cycles in a series of eight patients with epilepsy.

Methods: Venous blood samples were prospectively drawn from patients before their first morning dose of LTG, once between days 18 and 21 of HC intake and once between days 5 and 7 of the HC-free week.

Ictal and nonictal paroxysmal events in infantile neuroaxonal dystrophy: polygraphic study of a case.

A 7.5-year-old girl, with infantile neuroaxonal dystrophy (INAD), showed a gradual deterioration from 16 months; at age 5 years she was bedridden, with severe tetraplegia, strabismus, nystagmus and optic atrophy, and dementia. From age 5.

Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment.

Two familial X-linked dominant syndromes of cortical maldevelopment have recently been described: double cortex/lissencephaly syndrome and bilateral periventricular nodular heterotopia. We report on 12 kindreds with familial perisylvian polymicrogyria (FPP) presenting at 10 centers, examine the clinical presentation in these familial cases, and propose a possible mode of inheritance. The clinical and radiological pattern was variable among the 42 patients, with clinical differences among the families and even within members of the same family.

Multilobar polymicrogyria, intractable drop attack seizures, and sleep-related electrical status epilepticus.

Background And Objective: Patients with cortical malformations often have intractable seizures and are candidates for epilepsy surgery. Within an unselected series of patients with various forms of cortical malformation, nine patients with multilobar polymicrogyria had electrical status epilepticus during sleep (ESES) accompanied by infrequent focal motor seizures. Eight patients also had intractable atonic drop attack seizures.

Anterior corpus callosotomy: effects in a patient with congenital bilateral perisylvian syndrome and oromotor seizures.

Anterior corpus callosotomy was performed in a patient with pseudobulbar palsy, mild mental retardation and intractable epilepsy related to congenital bilateral perisylvian cortical dysplasia. Before surgery, she had daily atonic drop attacks, rare and mainly sleep-related oromotor seizures, and multifocal and diffuse paroxysmal EEG discharges; after callosotomy, less abrupt atonic drop attacks recurred monthly and the EEG epileptiform abnormalities disappeared. Video-EEG sleep recordings revealed the clinically unsuspected serial recurrence of oromotor seizures, probably related to the clinically observed aggravation of dysarthria.

Treatable partial epilepsy and unilateral opercular neuronal migration disorder.

Five patients with treatable partial epilepsy and unilateral opercular neuronal migration disorder (NMD) are reported. Outcome was considered favorable when seizure control was prompt and complete with appropriate antiepileptic drug (AED) therapy, and when there was no relapse after AED discontinuation. Minor cortical sensorimotor defects were noted in 4 patients.

Unilateral opercular macrogyria and benign childhood epilepsy with centrotemporal (rolandic) spikes: report of a case.

An 18-year-old mentally normal epileptic boy had frequent left brachiofacial or unilateral motor seizures which started at age 4 years and ceased 10 years later. Seizures were exclusively sleep-related. No relapse followed antiepileptic drug (AED) discontinuation.

Occipital lobe seizures related to clinically asymptomatic celiac disease in adulthood.

We report the electroclinical ictal findings of four epileptic patients with clinically asymptomatic celiac disease (CD). Celiac disease diagnosis was suspected by past history and/or computed tomography (CT) findings in all patients and confirmed by laboratory tests and jejunal biopsy. All patients had paroxysmal visual manifestations and ictal EEG discharges arising from the occipital lobe.

Antiepileptic drug treatment of benign childhood epilepsy with rolandic spikes: is it necessary?

Ten untreated and 20 treated patients with benign childhood epilepsy with rolandic (centrotemporal) spikes (BERS) were studied retrospectively after recovery. Seizure frequency, seizure recurrence, and duration of active epilepsy were similar in both groups. No differences were found in social adjustment.

[Progressive familial myoclonic epilepsy with bulbo-spinal amyotrophy. Clinical, electrophysiological study, and biopsy of a case].

Two brothers with Progressive myoclonic epilepsy and Juvenile bulbar and spinal atrophy had clinical, neurophysiological study and muscle biopsy. The EEG and polygraphic findings included progressive slowing of the background activity, spontaneous fast generalised spike- and wave discharges and photosensitivity. The EMG revealed pathological spontaneous activity as well as motor unit potentials diminished in number and increased in amplitude and duration; while VDCS and VDCM were normal.

Orthostatic tremor: essential and symptomatic cases.

We studied clinically and electrophysiologically 8 patients affected by orthostatic tremor (OT), which is an unusual movement disorder consisting of shaking movements of the legs and trunk in the standing position. We failed to find any cause in 6 of the 8 cases. In 2 patients OT was clearly secondary to neurologic disease: hydrocephalus due to non-tumoral aqueduct stenosis and chronic relapsing polyradiculoneuropathy.

Binswanger's disease: a review of the literature and a personal contribution.

Binswanger's disease is the name which has been given to a form of subcortical vascular dementia. These patients have a particular clinical profile which progressively includes strokes, gait disorder, pseudobulbar signs and cognitive impairment suggesting dysfunction of the prefrontal cortex. The radiological pattern of hypodensity of the white matter on CT scan (or an increased MRI signal), albeit much debated, seems to be more closely associated with hypertension, previous strokes and neuropsychological defects.

Marfan's syndrome, recurrent complex partial status epilepticus and myoclonus: a case report.

A 26 year-old mentally retarded woman suffering from Marfan's syndrome and epileptic seizures presented weekly recurrent complex partial status epilepticus for two years, and myoclonus at rest. A marked increase of the myoclonic jerks and transient signs of cerebellar dysfunction followed each occurrence of the status epilepticus. Myoclonus could be interpreted as: 1) a permanent neurologic consequence of primary CNS disorders or secondary to disorders of the connective tissue, 2) a persistent post-ictal sequela sustained by recurrence of complex partial status, or 3) an additional consequence of both brain disorders due to Marfan's syndrome and recurrence of complex partial status epilepticus.

Double-blind study of vigabatrin in the treatment of drug-resistant epilepsy.

Thirty-one patients with severe drug-resistant epilepsy entered the study. Vigabatrin (2 to 3 g/d, stratified according to weight) and placebo were administered orally, as add-on therapy in random order under double-blind conditions, each for three months using a crossover design. Thirty patients completed both periods.

Predictive factors of seizure frequency and duration of antiepileptic treatment in rolandic epilepsy: a retrospective study.

Factors useful to predict seizure frequency and duration of antiepileptic treatment of children with benign partial epilepsy and rolandic spikes were retrospectively evaluated in 72 patients seizure-free for at least 5 years and off antiepileptic drugs for at least 2 years. Three groups were considered: Group I, 11 patients (15%) with a single seizure: Group II, 40 patients (56%) with 2 to 6 seizures; Group III, 21 patients (29%) with over 6 seizures. Significant predictors of rare seizure frequency were: presence of convulsive generalized seizures as the sole ictal manifestation, found in 17 patients of Group II and in one patient of Group III (p less than 0.

Post-ictal gustatory hallucination, sleep related microspikes and glioma of the sylvian region: report of a case.

A 32 year old man affected by grade 1 astrocytoma of the right sylvian region and epileptic seizures, presented gustatory hallucinations as a post-ictal symptom. Spikes of very low voltage during sleep were the only epileptic abnormalities found on his EEG. It is suggested that post-ictal as well as ictal gustatory hallucinations may be a localizing symptom of glioma involving the sylvian region.