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Hereditary and Metabolic Diseases of the Central Nervous System in Adults
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Progressive myoclonic epilepsy is a prominent feature of several types of genetic neurodegenerative diseases, including repeat expansion disorders, lysosomal storage disorders, and mitochondrial disorders (Table 10.7). There is also a syndrome of “benign” familial adult myoclonic epilepsy, which was recently discovered to result from repeat expansion of very large 5-nucleotide repeats in the introns of various genes. This remains a clinical diagnosis until clinical tests for these very large repeat expansions can be developed.
Piracetam
Published in Stanley R. Resor, Henn Kutt, The Medical Treatment of Epilepsy, 2020
There have been several reports that piracetam is helpful in the treatment of postanoxic myoclonus (5–8) and in the myoclonus seen in patients with progressive myoclonic epilepsy (8,9). Obeso and colleagues observed that oral piracetam in doses of 8 to 9 g/day markedly reduced action-sensitive or stimulus-sensitive myoclonus in five of five patients with myoclonus of various etiologics including postanoxic and multisystem atrophy with ataxia and epilepsy (8). Of note is that piracetam was helpful even in patients who were already maximally treated with drugs such as clonazepam and valproate (7,8).
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.
Cortical excitability in epilepsy and the impact of antiepileptic drugs: transcranial magnetic stimulation applications
Published in Expert Review of Neurotherapeutics, 2020
Progressive myoclonus epilepsy (PME) is a rare complex syndrome that encompasses different diagnostic entities and genetic mechanisms. PME manifestations include progressive myoclonus, tonic-clonic seizures, cognitive impairment, ataxia, and other neurologic deficits [32]. In drug-naïve patients, TMS studies showed excess excitation of the sensory and motor cortex and alteration of transcallosal inhibition and sensorimotor integration of cortical and subcortical components which are not found in JME, indicating that the loss of inhibitory regulation within the central nervous system might represent an intrinsic mechanism of myoclonus, whether of the epileptic origin or not [45]. TMS findings include: (1) normal MTs, CSP, and ICF. But MTs and CSP may be increased as a result of AED treatment, (2) a reduction in ICI with both long and short ISIs [27] which is in contrast to JME in which ICI was decreased only for short ISIs [7], (3) an alteration in TCI or IHI [27], and (5) an exaggerated conditioned MEP response at ISIs of 25 to 40 ms, indicating the role for GABAB-mediated networks in PME. In normal individuals, there is inhibition of the conditioned MEP response at the same ISIs [23].
An Update on Myoclonus Management
Published in Expert Review of Neurotherapeutics, 2019
Christine M. Stahl, Steven J. Frucht
Cortical myoclonus arises from hyperactivity in the cerebral cortex, which can be detected on back-averaged EEG time-locked to the myoclonic jerk seen on EMG. In cases where back-averaged EEG-EMG fails to show any clear association, coherence analysis may be more sensitive in detecting myoclonus-related EEG changes expected with cortical myoclonus [5,6]. Cortical myoclonus is often multifocal but can be focal or generalized, as well. It is usually irregular but can be rhythmic and is commonly action and stimulus sensitive. Cortical myoclonus is seen in a variety of diseases and medical conditions including the progressive myoclonic epilepsy syndromes (PME), posthypoxic myoclonus, myoclonus secondary to certain toxins or metabolic derangements, and myoclonus associated with neurodegenerative syndromes such as Creutzfeldt-Jakob disease (CJD) or corticobasal degeneration (CBD).
Transcatheter arterial embolization in hepatic tumor hemorrhage
Published in Scandinavian Journal of Gastroenterology, 2019
Taina Nykänen, Erno Peltola, Ville Sallinen, Heikki Mäkisalo, Arno Nordin, Leena Kylänpää, Marianne Udd
The median follow-up time was 3.6 months (range: 0–112.6). By the time of data retrieval, 41 patients (91%) were dead. The most common causes of death according to Statistics Finland were HCC (56%), other malignancies (22%) and liver cirrhosis (15%). The three patients with benign adenomas were all women between 28 and 35 years of age. One of them had progressive myoclonus epilepsy. She died of cluster seizures eight months after the embolization. The remaining two patients were alive at the time of data retrieval: One received follow-up for multiple adenomas. The other with a solitary adenoma underwent successful liver resection.