9 research outputs found
The Potts Fully Frustrated model: Thermodynamics, percolation and dynamics in 2 dimensions
We consider a Potts model diluted by fully frustrated Ising spins. The model
corresponds to a fully frustrated Potts model with variables having an integer
absolute value and a sign. This model presents precursor phenomena of a glass
transition in the high-temperature region. We show that the onset of these
phenomena can be related to a thermodynamic transition. Furthermore this
transition can be mapped onto a percolation transition. We numerically study
the phase diagram in 2 dimensions (2D) for this model with frustration and {\em
without} disorder and we compare it to the phase diagram of the model with
frustration {\em and} disorder and of the ferromagnetic model.
Introducing a parameter that connects the three models, we generalize the exact
expression of the ferromagnetic Potts transition temperature in 2D to the other
cases. Finally, we estimate the dynamic critical exponents related to the Potts
order parameter and to the energy.Comment: 10 pages, 10 figures, new result
DISTRIBUTION OF PROGRESSIVE MYOCLONUS EPILEPSIES IN ITALY; POSITIVELY DIAGNOSED AND UNCLASSIFIED PATIENTS
Distribution of progressive myoclonus epilepsies in Italy; positively diagnosed and unclassified patients
Purpose: Progressive myoclonus epilepsies (PMEs) result from several
genetic disorders. Few information are available about the prevalence of
different PMEs. In spite of the progress in bio-molecular fields, the causative
disorder remains undiagnosed in a significant fraction of the
patients presenting with a PME phenotype. The aim of this study was collecting
information about the frequency and geographical distribution of
PMEs in Italy.
Method: The Genetic Commission of the Italian League against epilepsy
set up a data-base to include information dealing with PME patients
referred by Italian Epilepsy Centres, including the following information:
geographical origin of the parents, consanguinity, familiarity, age at the
disease and myoclonus onset, general characteristics of the seizures and
myoclonus and associated neurological defects, positive diagnosis, when
reached. Negative results obtained in the different examinations performed
during the diagnostic work-up had to be explicitly reported for
the patients who didn't reach a positive diagnosis of the neurological disorder
underlying the PME phenotype.
Result: We collected 179 patients, including 74 with Unverricht-Lundborg
disease, 33 with Lafora body disease, 25 with PME forms resulting
from more rare genetic causes (neuronal ceroid-lipofuscinosis, action
myoclonus renal syndrome, mitochondrial encephalopathies, other metametabolic
disorders, celiac disease). Forty-seven patients were not classified,
in spite of several investigations. We performed a tentative sub classification
of these patients, based on details of phenotypic presentation (onset
age, presence of relevant cognitive decline, seizure frequency and associated
neurological signs).
Conclusion: This study is expected to support further genetic studies
suitable to detect new diseases giving rise to the PME phenotype
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies
PURPOSE: Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% with heritability estimates of 80%. A considerable proportion of families with siblings affected by GGEs presumably display an oligogenic inheritance. The present genome-wide linkage meta-analysis aimed to map: (1) susceptibility loci shared by a broad spectrum of GGEs, and (2) seizure type-related genetic factors preferentially predisposing to either typical absence or myoclonic seizures, respectively.
METHODS: Meta-analysis of three genome-wide linkage datasets was carried out in 379 GGE-multiplex families of European ancestry including 982 relatives with GGEs. To dissect out seizure type-related susceptibility genes, two family subgroups were stratified comprising 235 families with predominantly genetic absence epilepsies (GAEs) and 118 families with an aggregation of juvenile myoclonic epilepsy (JME). To map shared and seizure type-related susceptibility loci, both nonparametric loci (NPL) and parametric linkage analyses were performed for a broad trait model (GGEs) in the entire set of GGE-multiplex families and a narrow trait model (typical absence or myoclonic seizures) in the subgroups of JME and GAE families.
KEY FINDINGS: For the entire set of 379 GGE-multiplex families, linkage analysis revealed six loci achieving suggestive evidence for linkage at 1p36.22, 3p14.2, 5q34, 13q12.12, 13q31.3, and 19q13.42. The linkage finding at 5q34 was consistently supported by both NPL and parametric linkage results across all three family groups. A genome-wide significant nonparametric logarithm of odds score of 3.43 was obtained at 2q34 in 118 JME families. Significant parametric linkage to 13q31.3 was found in 235 GAE families assuming recessive inheritance (heterogeneity logarithm of odds = 5.02).
SIGNIFICANCE: Our linkage results support an oligogenic predisposition of familial GGE syndromes. The genetic risk factor at 5q34 confers risk to a broad spectrum of familial GGE syndromes, whereas susceptibility loci at 2q34 and 13q31.3 preferentially predispose to myoclonic seizures or absence seizures, respectively. Phenotype- genotype strategies applying narrow trait definitions in phenotypic homogeneous subgroups of families improve the prospects of disentangling the genetic basis of common familial GGE syndromes
Family study of epilepsy in first degree relatives: Data from the Italian Episcreen study
Objective: To evaluate the family history of epilepsy in first degree relatives of probands with epilepsy. Methods: A sample of 10787 patients with epilepsy with complete information about first degree relatives (parents, siblings and offspring) was selected from the database of the Episcreen Project, the largest Italian observational study on epilepsy. Family history was assessed by: (1) prevalence estimates of epilepsy among proband's relatives, (2) modified cumulative risks (MCR), adjusted using proband's age as censoring time in life tables, (3) standardised morbidity ratios (SMR), using a sub-group of symptomatic epilepsies as control group. Results: Patients (9.1%) had a family history of epilepsy. The overall prevalence of epilepsy among first degree relatives was 2.6%. Idiopathic generalised epilepsies had the highest prevalence (5.3%). Cryptogenetic epilepsies had a lower prevalence (2.1%) than idiopathic epilepsies, but higher then symptomatic epilepsies (1.5%), both in generalised and focal forms (3.8% vs. 2.0% and 1.8% vs. 1.3%). A similar tendency was detected using MCR and SMR, with the higher values of risks/ratios for idiopathic and generalised epilepsies. Probands with idiopathic generalised epilepsies were highly concordant with respect to their relatives' type of epilepsy. Considering other strata factors, risks were higher in proband's epilepsies with an onset less then 14 years of age, while sex played no definite role in differentiating the family history. Conclusions: The Episcreen model permits a variety of stratification factors to measure family risk, including age at onset, epilepsy localisation and aetiology with a large sample of more than 10 000 probands and 1065/40 544 relatives affected and classified. © 2002 BEA Trading Ltd. Published by Elsevier Science Ltd. All rights reserved