Lidia Di Vito

Increased frequency of arousal parasomnias in families with nocturnal frontal lobe epilepsy: A common mechanism?

Purpose:  Retrospective observations disclosed an overlap between parasomnias and nocturnal frontal lobe epilepsy (NFLE) not only in patients but also in their relatives, suggesting a possible common pathogenetic mechanism. This study aimed to verify whether relatives of patients with NFLE have a higher frequency of parasomnias, namely arousal disorders, and thereby shed light on the still unknown pathophysiologic mechanisms underlying NFLE.

Prognostic factors in patients with mesial temporal lobe epilepsy

Purpose:  To disclose clinical, electrophysiologic, and neuroradiologic factors correlated to prognosis in patients with mesial temporal lobe epilepsy (MTLE).

Epilepsy in coeliac disease: not just a matter of calcifications

The clinical spectrum of epilepsy related to celiac disease (CD) ranges from benign syndromes to intractable epilepsy with evolution to a severe encephalopathy, including progressive myoclonic epilepsy (PME). A more specific syndrome characterised by the association of CD, epilepsy, and occipital calcifications (CEC) has also been reported. This study describes the clinical, neuroradiological and neurophysiological features of eight consecutive epileptic patients with a diagnosis of CD confirmed by laboratory tests and duodenal biopsy, referring to our Epilepsy Centre. Despite its small size, this series reflects the broad spectrum of the association between the two diseases, since it includes four cases of CEC and a more heterogeneous group of patients without cerebral calcifications comprising one case of limbic encephalitis and a case of PME. Our cohort suggests that more complex pathogenic mechanisms may be involved in the association between epilepsy and CD, and that CD should be included in the screening for PME etiology. Our data also confirm the major involvement of the occipital lobe, and minimise both the importance of calcifications in epileptogenesis and folic acid deficit in the development of calcifications.

Incidence of sudden unexpected death in nocturnal frontal lobe epilepsy: a cohort study.

Highlights • We assessed sudden unexpected death in epilepsy in nocturnal frontal lobe epilepsy.• The incidence of SUDEP in NFLE was no higher than that of other epilepsy populations.• The lower than expected risk of SUDEP might reflect a low occurrence of GTCS in NFLE.

Sleep-related hypermotor epilepsy: Long-term outcome in a large cohort

Objective: To assess the long-term outcome of sleep-related hypermotor epilepsy (SHE). Methods: We retrospectively reconstructed a representative cohort of patients diagnosed with SHE according to international diagnostic criteria, sleep-related seizures ≥75% and follow-up ≥5 years. Terminal remission (TR) was defined as a period of ≥5 consecutive years of seizure freedom at the last follow-up. We used Kaplan-Meier estimates to calculate the cumulative time-dependent probability of TR and to generate survival curves. Univariate and multivariate Cox regression analyses were performed. Results: We included 139 patients with a 16-year median follow-up (2,414 person-years). The mean age at onset was 13 ± 10 years. SHE was sporadic in 86% of cases and familial in 14%; 16% of patients had underlying brain abnormalities. Forty-five percent of patients had at least 1 seizure in wakefulness lifetime and 55% had seizures only in sleep (typical SHE). At the last assessment, 31 patients achieved TR (TR group, 22.3%), while 108 (NTR group, 77.7%) still had seizures or had been in remission for <5 years. The cumulative TR rate was 20.4%, 23.5%, and 28.4% by 10, 20, and 30 years from inclusion. At univariate analysis, any underlying brain disorder (any combination of intellectual disability, perinatal insult, pathologic neurologic examination, and brain structural abnormalities) and seizures in wakefulness were more frequent among the NTR group (p = 0.028; p = 0.043). Absence of any underlying brain disorder (hazard ratio 4.21, 95% confidence interval 1.26–14.05, p = 0.020) and typical SHE (hazard ratio 2.76, 95% confidence interval 1.31–5.85, p = 0.008) were associated with TR. Conclusions: Our data show a poor prognosis of SHE after a long-term follow-up. Its outcome is primarily a function of the underlying etiology.

Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation.

BackgroundParoxysmal kinesigenic dyskinesia is a neurological condition characterised by brief attacks of involuntary movements triggered by sudden voluntary movements.MethodsWe describe the clinical, polygraphic, and genetic features of an Italian family with paroxysmal kinesigenic dyskinesia.ResultsParoxysmal kinesigenic dyskinesia manifested as brief choreoathetosic-dystonic attacks precipitated by sudden movements, varying in severity and frequency, amongst the four affected family members. The disorder follows an autosomal dominant transmission and affects female members. Mutation of SLC2A1, MR1, CACNA1A, and ATP1A2 genes was excluded by direct sequencing. Mutation analysis of the PRRT2 gene revealed a single nucleotide duplication, c.649dupC, resulting in the frameshift mutation p.Arg217Profs*8 in all affected members.ConclusionParoxysmal kinesigenic dyskinesia is the most common type of paroxysmal movement disorder and is often misdiagnosed clinically as epilepsy. We describe a family with paroxysmal kinesigenic dyskinesia associated with PRRT2 gene mutation, mild intrafamilial clinical heterogeneity, and benign course.

Patterns of retinal ganglion cell damage in neurodegenerative disorders: Parvocellular vs magnocellular degeneration in optical coherence tomography studies

Many neurodegenerative disorders, such as Parkinson’s disease (PD) and Alzheimer’s disease (AD), are characterized by loss of retinal ganglion cells (RGCs) as part of the neurodegenerative process. Optical coherence tomography (OCT) studies demonstrated variable degree of optic atrophy in these diseases. However, the pattern of degenerative changes affecting the optic nerve (ON) can be different. In particular, neurodegeneration is more evident for magnocellular RGCs in AD and multiple system atrophy with a pattern resembling glaucoma. Conversely, in PD and Huntington’s disease, the parvocellular RGCs are more vulnerable. This latter pattern closely resembles that of mitochondrial optic neuropathies, possibly pointing to similar pathogenic mechanisms. In this review, the currently available evidences on OCT findings in these neurodegenerative disorders are summarized with particular emphasis on the different pattern of RGC loss. The ON degeneration could become a validated biomarker of the disease, which may turn useful to follow natural history and possibly assess therapeutic efficacy.

Tobacco habits in nocturnal frontal lobe epilepsy.

The beneficial effect of nicotine has been reported in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) patients, but not tested in sporadic cases. Recently, a nicotine defect in the arousal pathway has been hypothesized even in sporadic NFLE patients and their relatives. This case-control family study was designed to test whether NFLE subjects were more likely to use tobacco than controls, as an indirect marker of cholinergic arousal system dysregulation. At least four relatives were included for each NFLE proband and control. Each subject was questioned about tobacco habits; 434 individuals were recruited. Moreover, we compared NFLE patients with age- and sex-matched controls to determine whether they are more likely to use tobacco. We found a slightly higher trend of tobacco use in NFLE probands compared to that in control subjects; we did not find any significant difference in the distribution of tobacco use among NFLE group compared to that in the control group.

A seizure response dog: video recording of reacting behaviour during repetitive prolonged seizures

Seizure response and alerting behaviour may spontaneously develop in dogs living with children or adults with epilepsy. Some dogs can also be reliably trained to respond and anticipate seizures. We describe the case of a dog, not previously trained for assistance work, showing complex seizure response behaviour. This is the first release of a home video recording of a dog reacting to its owner’s seizure.

DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions

1 IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy 2 Department of Neuroscience, University of Padova, Padova, Italy 3 Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy 4 Nuclear Medicine Unit, Department of Medicine DIMED, University-Hospital of Padova, Italy 5 Padova Neuroscience Center, University of Padova, Italy