Epilepsy is not a prominent feature of primary autism

The authors report on a series of 72 patients (57 male, 15 female; aged from 4 to 21 years) affected by autism with the aim of evaluate their experience regarding the prevalence of seizure and/or epilepsy. Patients were divided into two groups: the first includes individuals (n = 54) affected by so-called idiopathic or primary autism which was further subdivided according to the grade of mental retardation (MR) and the second (n = 18) in which a known pathological event was associated to the autism (secondary autism). According to these results in the first group 12 % of autistic patients with moderate MR (i.e., IQ > 55) suffered from seizures but in three patients (9 %) they were occasional and only in one recurrent (i.e., epileptic) (3 %). Autistic patients with severe MR (i.e., IQ < 55) suffered from seizures in 20 % of the cases: in three the episodes were recurrent (15 %) and in one occasional (5 %). In the second group in which autism was associated to other morbidities 61 % (n = 11/18) had seizures, being recurrent in 10 (55 %). According to this series, in autism the risk of epilepsy is higher compared to the general population but it does not seem to be correlated to the autism itself, but rather to the associated co-morbidities and underlying brain dysfunction (overall prevalence of epilepsy in primary autism [4/54 or 7.4 %] vs. secondary autism [10/18 or 55 %]).     

Epilepsy at the movies: possession to presidential assassination

In this review I examine the portrayal of epilepsy, seizures, and non-epileptic attack disorder in 62 movies produced over three-quarters of a century, across four continents, covering nine cinematic genres. While similar reviews of epilepsy in literature have suggested a progression in the understanding of epilepsy over time, this survey of the newer medium found examples of all of the ancient beliefs about epilepsy including demonic or divine possession, genius, lunacy, delinquency, and general "otherness". Nevertheless there has been a progressive trend towards more overt depictions of epilepsy. Male characters with idiopathic epilepsy tend to be mad, bad, and commonly dangerous, whereas characters with post-traumatic epilepsy are usually cast as heroes triumphing against the odds. Epilepsy in female characters tends to signify exotic vulnerability. The dramatic potential of seizures remains highly tempting to film writers and directors alike. Although it is not for the medical profession to dictate or censor cinematic content, a keen eye on these depictions will help us to understand and perhaps combat some of the stereotypes and myths that continue to surround epilepsy in the 21st century.     

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.     

Binswanger's disease is not a single entity

The clinicopathological findings reported by Binswanger are insufficient to qualify as distinct entity the condition named “Binswanger's disease”, and subsequently by Olszewski (1962) “subcortical arteriosclerotic encephalopathy (SAE) (Binswanger's type)”. A short summary of the characteristic pathological, clinical and neuroimaging features of SAE is reported. The white matter changes detected by neuroimaging must be considered aspecific, since identical changes may be found in normal elderly as well as in patients with different diseases: different biochemical mechanisms can undoubtedly underlie identical neuroimaging patterns. Two other relevant points are noteworthy: the occurrence of pathological features of SAE in other diseases (CADASIL, pseudoxanthoma elasticum, antiphospholipid antibody syndrome) and the observation of some patients with pathological changes of SAE but an incomplete clinical picture. The clinicopathological features described as Binswanger's disease do not qualify as a separate entity since they are common to variety of illnesses. The pathological picture identified by Olszewski can rightly be named, according to Caplan, “chronic microvascular leukoencephalopathy” (CML). The clinicopathological features of the so-called Binswanger's disease constitute a syndrome, the CML syndrome (CMLS), which can be found in some hereditary diseases and in acquired conditions. This syndrome shows peculiar cerebrovascular changes and, when clinically associated with dementia, identifies one of the subtypes of vascular dementia. Received: 28 September 2000 / Accepted in revised form: 9 February 2001     

Epilepsy, hysteria, and "possession". A historical essay.

A historical essay is presented relating concepts of epilepsy, hysteria, and "possession." The designation "hysteroepilepsy" is placed into the context of combined phenomena in individual subject instances. An association of psychotic states resembling a schizoprenic disorder is indicated as occurring in certain epileptic patients, especially some complex partial seizures (i.e., temporal lobe-psychomotor type). Phenomena of possession may appear within any of these entities. Differential diagnosis now is aided greatly by ulilization of monitoring with combined split screen television viewing and recording of the patient's behavior and the concomitant electroencephalogram. Treatment is directed both medically and toward alleviation of contributing and precipitating psychological and sociological factors.     

Definitively: epilepsy is not a disease]

The author analyses past concepts which still hold good today. Such concepts regard epilepsy as a mental disease and the epileptic is usually taken as someone suffering from a severe mental disorder, tending to criminal behaviour. The author proves, taking into account various statements from prominent personalities in the scientific world, that epilepsy is neither a mental disease nor a disease in its own sense, and that the epileptic has not an aggressive behaviour.     

Normokalemic periodic paralysis is not a distinct disease

Introduction: Recent molecular studies of the original cases of normokalemic periodic paralysis (normoKPP) have raised suspicions that these families actually had hyperkalemic periodic paralysis (hyperKPP) due to mutations in the skeletal muscle sodium channel gene SCN4A. However, there is still a debate about the existence of normoKPP. Methods: We screened 230 individuals with primary periodic paralysis for mutations in the SCN4A, CACNA1S, and KCNJ2 genes. All patients had either a hyperKPP or a hypoKPP phenotype, and none had a normoKPP phenotype. Results: In 4 hyperKPP patients from 2 families, molecular analyses revealed Arg675Gly and Arg675Gln mutations of SCN4A, which were previously reported to cause normoKPP. Each patient exhibited the characteristic clinical and laboratory features (including hyperkalemia during spontaneous attacks) of hyperKPP. Conclusion: Our findings support the notion that normoKPP is not a distinct disease. Muscle Nerve, 2012     

UCHL-1 is not a Parkinson's disease susceptibility gene

OBJECTIVE: The UCHL-1 gene is widely cited as a susceptibility factor for sporadic Parkinson's disease (PD). The strongest evidence comes from a meta-analysis of small studies that reported the S18Y polymorphism as protective against PD, after pooling studies of white and Asian subjects. Here, we present data that challenge this association. METHODS: In a new large case-control study in white individuals (3,023 subjects), the S18Y variant was not protective against PD under any genetic model of inheritance. Similarly, a more powerful haplotype-tagging approach did not detect other associated variants. RESULTS: Finally, in an updated S18Y-PD meta-analysis (6,594 subjects), no significant association was observed under additive, recessive, or dominant models (odds ratio = 1.00 [95% confidence interval: 0.74-1.33]; odds ratio = 1.01 [95% confidence interval: 0.76-1.35]; and odds ratio = 0.96 [95% confidence interval: 0.86-1.08], respectively), and a cumulative meta-analysis showed a trend toward a null effect. INTERPRETATION: Based on the current evidence, the UCHL-1 gene does not exhibit a protective effect in PD.     

Epilepsy is a neurological and a systemic disorder

The basic pathophysiology of epilepsy is still not fully understood. Epidemiological evidence for epilepsy seems to suggest that it may not only be the propensity for seizures to occur. The high prevalence of comorbidity and the finding that premature mortality is still increased in those who are in long-term remission, suggest that there is a systemic component to the condition. This systemic component is an additional shared risk factor that can explain an important proportion of the comorbidities of epilepsy as well as how an individual with inactive epilepsy remains at an elevated risk of premature mortality. This systemic component can be viewed from the perspective of a number of fundamental pathophysiological processes: inflammation, oxidative stress, glycation, and methylation capacity. These processes are associated with all-cause mortality and there is also a growing understanding of their impact on seizure processes. We propose that epilepsy be considered as the sum of seizures and comorbidities caused by systemic dysfunction, and that the comprehensive management of epilepsy should also include the management of the systemic dysfunction.     

Epilepsy is Dancing

In ”Epilepsy is Dancing”, in Antony and the Johnsons’ album „The Crying Light”(2009), the lyrics and accompanying music video depicts an epileptic seizure in which the person is transferred to another beautiful and magical world. This may be called „enchanted epilepsy”; i.e., the experience of epilepsy as deeply nourishing and (positively) transforming, is conveyed not only in the lyrics but also the visual and auditory qualities of the video. The seizure in the video gives associations to Shakespeare’s „A Midsummer Night’s dream”.If epilepsy appears in music lyrics, the focus is mostly on negative aspects of the illness, such as horror, fear and repulsive sexuality associated with the fits [1], [2]. Contradictory to these lyrics, Anthony and the Johnsons’ song is an example of a positive portrayal of epilepsy. It is open to a multitude of meanings, emotional valence and appraisal of epilepsy. By widening the experiential range associated with epileptic seizures, these lyrics highlight the inherently construed nature of epileptic experience.The song stands out in several ways. First, it describes epilepsy in positive terms, prioritising the euphoric, ecstatic, potentially empowering and enhancing aspects of epileptic seizures. Second, the lyrics and accompanying video point to divine experiences associated with epileptic seizures. Through the lyrics and the music video we are, as an audience, able to sense a snicket of an epileptic seizure, but also the universal experience of loosing control.