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Neurophysiological changes associated with dementia in Down syndrome
Published in Vee P. Prasher, Down Syndrome and Alzheimer’s Disease, 2018
Frank E. Visser, Satnam Kunar, Vee P. Prasher
Möller and colleagues19 reported the case of a 55-year-old subject with DS who developed progressively frequent myoclonus and generalised myoclonic–tonic seizures at the age of 52 years. EEG recordings led to the classification of primary generalised epileptic myoclonus. The authors went on to suggest that late-onset myoclonic epilepsy in adults with DS (LOMEDS) should be considered as a differential diagnosis for adult-onset myoclonic epilepsies. The authors argued that LOMEDS shared features with Unverricht–Lundborg disease, a disease caused by a mutation on chromosome 21. Therefore the question of whether there is a specific gene abnormality on chromosome 21 associated with myoclonic epilepsy requires further investigation.
Neurogenetics
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
Sonia Gandhi, Sarah Tabrizi, Nicholas Wood
The list of causes of progressive myoclonic epilepsy is long, but four of the most common causes are described here. Unverricht–Lundborg disease (Baltic myoclonus) is autosomal recessive and is caused by mutations in the EPM1 gene, which encodes the protein cystatin B. It is characterized by myoclonus onset in childhood associated with later onset ataxia, tremor and cognitive decline.
Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Myoclonus, ataxia with relatively preserved cognition: Common causes: Unverricht–Lundborg disease (Baltic myoclonus).Myoclonic epilepsy with ragged red fibers (MERRF).Postanoxic myoclonus.Spinocerebellar degenerations.Uncommon causes: CD.MSA.GM2 gangliosidosis.NCL.DRPLA.North Sea progressive myoclonus epilepsy (GOSR2 mutations).Action myoclonus renal failure syndrome.MEAK syndrome (KCNC1 mutations).SCA14 (PRKCG mutations).POLG mutations.PRICKLE1 mutations.ASAH1 mutations.KCTD7 mutations.LMNB2 mutations.SLC25A46 mutations.
Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era
Published in Journal of Neurogenetics, 2018
Jeffrey D. Calhoun, Gemma L. Carvill
Unverricht-Lundborg disease (ULD) and Lafora body disease (LBD) are both neuronal ceroid lipofuscinoses (NCLs) that fall within the PME spectrum. Variants in CSTB, encoding cystatin B, are the most common cause of ULD (Crespel et al., 2016). Cstb-deficient mice model the major phenotypes of ULD, including myoclonic seizures, ataxia, and neuronal loss (Pennacchio et al., 1998). LBD is a fatal AR disorder characterized by severe epilepsy due to glycogen storage dysfunction (Gentry, Guinovart, Minassian, Roach, & Serratosa, 2018). Variants in EPM2A and NHLRC1 have been reported in LBD families (Chan et al., 2003; Minassian et al., 1998). A number of other genetic variants have been reported in PME (Table 1).
Diagnostic and therapeutic approach to drug-resistant juvenile myoclonic epilepsy
Published in Expert Review of Neurotherapeutics, 2021
Michele Ascoli, Giovanni Mastroianni, Sara Gasparini, Pasquale Striano, Vittoria Cianci, Sabrina Neri, Valentina Bova, Anna Mammì, Antonio Gambardella, Angelo Labate, Umberto Aguglia, Edoardo Ferlazzo
Differential diagnosis at disease onset with PMEs may be challenging. Indeed, EEG may show normal background activity, diffuse polyspike-wave discharges and PPR in JME and in a large proportion of patients with early PMEs. In Unverricht- Lundborg disease (ULD), the most common and mildest form of PMEs, typical EEG findings are represented by moderately slowing of background activity, generalized fast spike-wave or polyspike, and wave discharges at 3–5 Hz [39]. EEG recordings during sleep usually show a reduction of generalized fast spike-wave or polyspike and wave discharges as well as spikes over the central and the vertex leads, mainly during REM sleep [40,41].
An Update on Myoclonus Management
Published in Expert Review of Neurotherapeutics, 2019
Christine M. Stahl, Steven J. Frucht
Repetitive TMS is in the early stages of investigation into the effectiveness of treating myoclonus and holds promise as a non-invasive add-on therapy. As mentioned above, there has been one pilot study evaluating the short-term effect in myoclonus reduction in Unverricht-Lundborg disease. Further investigation into the longer term effectiveness of rTMS is needed, as well as to measure its effect in a controlled trial.