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Chieti, Italy

Maruszak A.,Polish Academy of Sciences | Peplonska B.,Polish Academy of Sciences | Safranow K.,Pomeranian Medical University | Chodakowska-Zebrowska M.,Neurology Clinic | And 2 more authors.
Journal of Alzheimer's Disease | Year: 2012

Recently, it has been reported that TOMM40 variable-length poly-T sequence polymorphism (rs10524523) in combination with APOE alleles (E2, E3, E4) significantly influences late-onset Alzheimer's disease (LOAD) age of onset. In a group of 414 LOAD patients, 173 centenarians and 305 neurologically healthy individuals, we investigated the impact of TOMM40 poly-T tracts on LOAD incidence, age of onset, and longevity. TOMM40 allelic variants were classified into four categories: short (S; 14-16T), long a (La; 20-22T), long b (Lb; 26-30T), and very long (VL; 31-39T). Our results demonstrate that La and Lb share similar characteristics in affecting LOAD risk, thus for some analyses they were combined into L category. We observed significantly lower frequency of VL allele (p < 0.0001) and significantly higher frequency of L alleles in the LOAD patients compared to the control individuals (p < 0.0001). S/S, S/VL, and VL/VL genotypes and VL-E2, S-E3, VL-E3 haplotypes are significantly associated with lower LOAD risk. VL-E3 haplotype carriers significantly more frequently developed LOAD when they were ≥79 years old. Additionally, S/L genotype is associated with a significantly increased LOAD risk (p < 0.0001). We conclude that in the carriers of TOMM40-APOE haplotypes comprising E4 allele, the TOMM40 rs10524523 allele does not play substantial role in establishing LOAD risk. Nevertheless, TOMM40 L allele increases the risk when E4 is absent. Finally, L allele, as well as genotypes (S/L, V/L) and haplotypes (L-E3, L-E4) comprising L significantly reduce the likelihood of living up to 100 years. © 2012 - IOS Press and the authors. All rights reserved. Source

Belcastro V.,Neurology Clinic | Striano P.,University of Genoa | Kasteleijn-Nolst Trenite D.G.A.,University Utrecht | Villa M.P.,University of Rome La Sapienza | Parisi P.,University of Rome La Sapienza
Journal of Headache and Pain | Year: 2011

Despite the fact that migraine and epilepsy are among the commoner brain diseases and that comorbidity of these conditions is well known, only few reports of migralepsy and hemicrania epileptica (HE) have been published according to the current ICHD-II criteria. Particularly, ICHD-II describes "migraine-triggered seizure" (i.e., migralepsy) among complications of migraine at "1.5.5" (as a rare event in which a seizure happens during migrainous aura), while hemicrania epileptica (coded at "7.6.1") and post-ictal headache (coded at "7.6.2") are described among headaches attributed to epileptic seizure. However, to date neither the International Headache Society nor the International League against Epilepsy mention that headache/migraine may be the sole ictal epileptic manifestation. Based on the current knowledge, migralepsy is highly unlikely to exist as such. We, therefore, propose to delete this term until clear evidence its existence is provided. Moreover, we herein propose a revision of terminology and classification criteria to properly represent the migraine/headache relationships. We suggest the term "ictal epileptic headache" in cases in which headache/migraine is the sole ictal epileptic manifestation. © 2011 The Author(s). Source

Striano P.,University of Genoa | Belcastro V.,Neurology Clinic
Expert Review of Neurotherapeutics | Year: 2012

Myoclonic seizures are sudden, brief, shock-like contractions that can vary in distribution and intensity. They may be present in different epilepsy syndromes, including some idiopathic generalized epilepsy, epileptic encephalopathies and progressive myoclonus epilepsies. Despite the fact that there are many studies about the pathophysiology of myoclonic seizures and clear descriptions of the different myoclonic epilepsy syndromes, relatively little has been written on treatment. Valproate and some benzodiazepines are widely used to treat myoclonic seizures. In addition, more treatment options exist today as there is emerging evidence to support the efficacy of some newer antiepileptic drugs. On the other hand, some myoclonic epilepsies remain refractory to drug treatment and some antiepileptic drugs may exacerbate or even induce myoclonus. In the coming years, better understanding of mechanisms of myoclonic seizures and myoclonic epilepsies could result in great improvement of therapy and the quality of life of patients. © 2012 Expert Reviews Ltd. Source

Belcastro V.,Neurology Clinic | Striano P.,University of Genoa
Epilepsy Research | Year: 2012

Homocysteine (Hcy) is a sulfur-containing, nonprotein amino acid reversibly formed and secreted during metabolism of methionine. Elevated total Hcy levels (hyper-tHcy) have been associated with cardiovascular disease in multiple large-scale epidemiologic studies and, in particular, patients with epilepsy exhibit elevated plasma tHcy levels more frequently than the general population caused by polymorphisms in the MTHFR gene and chronic treatment with older antiepileptic drugs.Folic acid alone or folic acid combined with other B-vitamins have all been shown to reduce tHcy concentration in patients on chronic treatment with antiepileptic drugs, however, which is the most appropriate supplementation scheme of folic acid and/or B-vitamins in patients with epilepsy still remains matter of debate. We review the latest findings on the role of supra-physiological tHcy concentrations as vascular risk factor in patients with epilepsy and discuss the possible role played by folate and other B-vitamins supplementation in epileptic patient with hyper-tHcy. © 2012 Elsevier B.V. Source

Parisi P.,University of Rome La Sapienza | Striano P.,University of Genoa | Negro A.,University of Rome La Sapienza | Negro A.,Harvard University | And 2 more authors.
Journal of Headache and Pain | Year: 2012

The term "ictal epileptic headache" has been recently proposed to classify the clinical picture in which headache is the isolated ictal symptom of a seizure. There is emerging evidence from both basic and clinical neurosciences that cortical spreading depression and an epileptic focus may facilitate each other, although with a different degree of efficiency. This review address the long history which lead to the 'migralepsy' concept to the new emerging pathophysiological aspects, and clinical and electroencephalography evidences of ictal epileptic headache. Here, we review and discuss the common physiopathology mechanisms and the historical aspects underlying the link between headache and epilepsy. Either experimental or clinical measures are required to better understand this latter relationship: the development of animal models, molecular studies defining more precise genotype/phenotype correlations as well as multicenter clinical studies with revision of clinical criteria for headache-/ epilepsy-related disorders represent the start of future research. Therefore, the definition of ictal epileptic headache should be used to classify the rare events in which headache is the only manifestation of a seizure. Finally, using our recently published criteria, we will be able to clarify if ictal epileptic headache represents an underestimated phenomenon or not. © The Author(s) 2012. Source

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