Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene
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DOI: 10.1002/mdc3.13260
Abstract: Mutations in the ATP13A2 gene have been causally associated with Kufor-Rakeb syndrome and later with neuronal ceroid lipofuscinosis and a complicated form of hereditary spastic paraplegia (SPG78). The ATP13A2 gene encodes a lysosomal 5Ptype ATPase… read more here.
Keywords: atp13a2 gene; ataxia; action myoclonus; myoclonus ... See more keywords
Acute Cerebellar Ataxia and Myoclonus in SARS‐CoV‐2–Related Encephalopathy Responsive to Immunotherapy: A Case Series
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DOI: 10.1002/mdc3.13598
Abstract: Within movement disorders occurring during or after coronavirus 2019 (COVID-19), myoclonus was observed both isolated and in the context of encephalopathy, as well as with ataxia, but without opsoclonus. 1 However, pathomechanisms remain poorly understood.… read more here.
Keywords: cov related; ataxia myoclonus; case; myoclonus ... See more keywords
Oral Baclofen Therapy for Multifocal Spinal Myoclonus with TBC1D24 Variant
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DOI: 10.1002/mdc3.13701
Abstract: TBC1D24 (#MIM 613577) variants-associated diseases include a wide spectrum of epilepsy, drug-resistant multifocal myoclonus, and epilepsia partialis continua. 1,2 Reports of abdominal myoclonus 3 and no scalp electroencephalogram (EEG) correlation during myoclonus 1 have suggested… read more here.
Keywords: tbc1d24; therapy multifocal; myoclonus; baclofen therapy ... See more keywords
A Biomarker for Benign Adult Familial Myoclonus Epilepsy: High‐Frequency Activities in Giant Somatosensory Evoked Potentials
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DOI: 10.1002/mds.28666
Abstract: Benign adult familial myoclonus epilepsy (BAFME) is one of the diseases that cause cortical myoclonus (CM) with giant somatosensory evoked potentials (SEPs). There are no useful diagnostic biomarkers differentiating BAFME from other CM diseases. read more here.
Keywords: benign adult; myoclonus epilepsy; myoclonus; familial myoclonus ... See more keywords
A Portuguese rapid-onset dystonia-parkinsonism case with atypical features
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DOI: 10.1007/s10072-017-2996-4
Abstract: Dear Editor, Rapid-onset dystonia-parkinsonism (DYT/PARK-ATP1A3, formerly known as DYT12) is a combined dystonia syndrome rarely encountered in clinical practice [1]. Recent reports have expanded the clinical presentation beyond the classical phenotype and there is increasing… read more here.
Keywords: onset dystonia; dystonia parkinsonism; rapid onset; dystonia ... See more keywords
Isolated generalized myoclonus immune-mediated by SARS-CoV-2: an illustrative videotaped case
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DOI: 10.1007/s10072-021-05164-8
Abstract: Myoclonus in the context of COVID-19 is an increasingly recognized condition. The occurrence in an ICU context in hypoxic patients, with metabolic disorders, taking several types of medication, makes difficult to establish a precise cause.… read more here.
Keywords: serology; mediated sars; myoclonus; immune mediated ... See more keywords
A Case Report of Myoclonus-Dystonia with Isolated Myoclonus Phenotype and Novel Mutation Successfully Treated with Deep Brain Stimulation
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DOI: 10.1007/s40120-020-00186-4
Abstract: Introduction Myoclonus-dystonia is an inherited disorder characterized by a combination of myoclonic jerks and dystonia. Mutations in the epsilon-sarcoglycan gene ( SGCE ) represent the main known genetic cause. In the last few years, deep… read more here.
Keywords: case; isolated myoclonus; myoclonus; myoclonus phenotype ... See more keywords
Syndrome opsoclonus-myoclonus paranéoplasique et mélanome muqueux
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DOI: 10.1016/j.annder.2017.09.511
Abstract: Introduction Le syndrome opsclonus-myoclonus paraneoplasique (SOMP) fait partie des syndromes neurologiques paraneoplasiques. Il a surtout ete decrit dans le cadre de neuroblastome de l’enfant ou de cancer pulmonaire a petites cellules de l’adulte. Nous rapportons… read more here.
Keywords: somp; muqueux; myoclonus; non metastatique ... See more keywords
Low-dose perampanel improves refractory cortical myoclonus by the dispersed and suppressed paroxysmal depolarization shifts in the sensorimotor cortex
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DOI: 10.1016/j.clinph.2019.07.006
Abstract: OBJECTIVE To elucidate the effects of perampanel (PER) on refractory cortical myoclonus for dose, etiology and somatosensory-evoked potential (SEP) findings. METHODS We examined 18 epilepsy patients with seizure and cortical myoclonus. Based on data accumulated… read more here.
Keywords: perampanel improves; low dose; dose perampanel; refractory cortical ... See more keywords
Intravenous metoclopramide induced generalized multifocal myoclonus
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DOI: 10.1016/j.ensci.2020.100225
Abstract: Highlights • Unusual side effect of a widely used medication• Iatrogenic induced neurological states• Multifocal myoclonus. Voice tremor read more here.
Keywords: metoclopramide induced; multifocal myoclonus; intravenous metoclopramide; myoclonus ... See more keywords
Intrathecal morphine combined with ropivacaine induces spinal myoclonus in cancer patients with an implanted intrathecal drug delivery system
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DOI: 10.1097/md.0000000000015330
Abstract: Rationale: Although intrathecal opioid infusion has been used for decades for the treatment of severe pain, myoclonus as one of the complications of this therapeutic modality is now beginning to be recognized more. Patients concerns:… read more here.
Keywords: intrathecal drug; myoclonus; delivery system; spinal myoclonus ... See more keywords