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• W2103183951 abstract "Unverricht-Lundborg disease (ULD) represents the purest type of progressive myoclonus epilepsy (PME), as there are only few symptoms associated with epileptic seizures and myoclonus. It was adequately described by H. Unverricht in Estonia in 1891, and confirmed by H. Lundborg in Sweden in 1903. Because of the description of numerous other PMEs during the 20th century (Berkovic et al., 1986), there was, however, much confusion and ULD was not truly singled out until the Marseille meeting in 1989 (Marseille Consensus Group, 1990). It had previously been considered a specifically Baltic (Koskiniemi, 1986) or Mediterranean (Genton et al., 1990) condition. Later advances include the localization of the genetic anomaly on chromosome 21 (EPM1, Lehesjoki et al., 1991), followed by the identification of the responsible protein defect, cystatin B (Laliotti et al., 1997). Although ULD remains uncommon, it has been increasingly diagnosed among patients with drug-resistant myoclonic epilepsy (de Haan et al., 2004); the availability of molecular genetic confirmation of diagnosis has certainly helped. ULD has a worldwide but uneven distribution. It is transmitted as an autosomal recessive disorder, and areas of higher prevalence are found in places with founder effect or high rates of consanguineous marriages: Good examples are geographic isolates, such as La Réunion, an island in the Western Pacific, where the genetic defect was introduced into the small French community in the 18th century (Moulard et al., 2003). Mutations affect the gene coding for cystatin B (or stefin B), a cysteine protease inhibitor, and include CCCCGCCCCGCG dodecamer repeats in most, whereas point mutations are less common. There is no clear correlation between the number of repeats or the type of mutation and severity. Despite significant advances, including the production of transgenic mice, there is no consensual explanation of the relationship between the genetic defect and the resulting clinical symptoms. Abnormal activation of cathepsin S, C1q B-chain of complement (C1qB), beta2-microglobulin, glial fibrillary acidic protein (GFAP), apolipoprotein D, fibronectin 1, and metallothionein II, result in proteolysis, apoptosis, and glial activation (Lieuallen et al., 2001). Lysosomal dysfunction may be a prominent factor (Alakurtti et al., 2005), as well as oxidative stress (Lehtinen et al., 2009). These mechanisms may produce a dopaminergic defect (Korja et al., 2007), hyperexcitability (Franceschetti et al., 2007), and decreased cortical inhibition (Danner et al., 2009). The onset is in late childhood and early adolescence, peaking at around age 12–13, with generalized tonic–clonic seizures and diffuse myoclonic jerks that predominate at awakening. There is a progressive increase of myoclonus, with additional action-triggered and erratic, sometimes stimulus-sensitive myoclonias, whereas seizures tend to abate over the years. Symptoms fluctuate within the day, predominating at awakening and in the evening. There are also prominent fluctuations between good and bad days. Ataxia is prominent in periods with intense myoclonus, but may abate if myoclonus is controlled. There is no progression toward dementia, although neuropsychological impairment may be present and may increase slightly over the years (Ferlazzo et al., 2009; Giovagnoli et al., 2009). The long-term is characterized by limited worsening after the first 5–10 years (Magaudda et al., 2006) (Fig. 1), with a varying but stable level of handicap thereafter: The outcome in adults ranges from an independent, active life with minimal impairment to severe handicap in wheelchair-bound or even bedridden patients. Early death has a comparatively low incidence, and may be due to suicide, accidents, but also to sudden unexpected death in epilepsy (SUDEP)—the latter mostly in undertreated patients, in relation to persisting convulsive seizures (Mrabet et al., in press). Long-term evolution of myoclonus and seizures in patients with Unverricht-Lundborg disease (ULD). Data from a severity scale of 0 (none) to 6 (very severe). Seizures disappear progressively in most patients by the second decade of disease (squares), whereas myoclonus reaches a plateau with minimal progression (diamonds). Adapted from Magaudda et al., 2006. Neurophysiology shows increased amplitude of multimodal evoked potentials, and marked interictal and ictal generalized spike-wave activity on electroencephalography (EEG). The EEG background is often moderately slow. It is important to note that there are no prominent multifocal changes, and that the EEG tends to improve later, with return to normal background and abatement of interictal changes in most adult patients. Photosensitivity, present in nearly all patients at the onset, tends to disappear after 10–15 years (Ferlazzo et al., 2007) (Fig. 2). Long-term evolution of electroencephalography (EEG): same patient seen at age 14 years (left), 2 years after onset of symptoms, and followed at age 28 (right). Left: marked photosensitivity with generalized photoparoxysmal response (PPR). Right: normal background activity, no PPR. There is no etiologic treatment for ULD. The use of N-acetylcysteine may contribute to a stabilization of symptoms and to decreased progression, due to its action against oxidative stress, but results are uneven (Edwards et al., 2002). The treatment of ULD (review in Genton et al., 2005) relies on anticonvulsants with antimyoclonic properties, such as valproate, levetiracetam, primidone, zonisamide, topiramate, and benzodiazepines. Piracetam, at high doses, has marked antimyoclonic properties and is often used in ULD. Most patients require polytherapy with a combination of 2–4 agents. The potential of vagus nerve stimulation and intracerebral stimulations requires further evaluation. A marked progress in therapy has resulted from the avoidance of aggravating anticonvulsant agents: phenytoin, carbamazepine, but also most anticonvulsants not listed earlier. Symptomatic treatment of ULD is efficient and has greatly improved the quality of life of many patients, but may have limited efficacy in the most severely affected patients. There is still a clear need for pathogenic understanding of ULD, which would allow more efficient therapeutic intervention. Recent progress has focused on the delineation of ULD—similar forms of PME that were EPM1-negative, with new clinical descriptions (Coppola et al., Ferlazzo et al., 2009). The demonstration of a PRICKLE-1 homozygous mutation in three such families (Bassuk et al., 2008) has already opened new horizons. The author has received support from UCB, Eisai, and Sanofi-Aventis for research and teaching programs." @default.
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• W2103183951 title "Unverricht-Lundborg disease (EPM1)" @default.
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