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Myoclonus

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101. Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study Full Text available with Trip Pro

Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study Myoclonus-dystonia (M-D) is a young onset movement disorder typically involving myoclonus and dystonia of the upper body. A proportion of the cases are caused by mutations to the autosomal dominantly inherited, maternally imprinted, epsilon-sarcoglycan gene (SGCE). Despite several sets of diagnostic criteria, identification of patients most likely to have an SGCE mutation remains (...) difficult.Forty consecutive patients meeting pre-existing diagnostic clinical criteria for M-D underwent a standardized clinical examination (20 SGCE mutation positive and 20 negative). Each video was reviewed and systematically scored by two assessors blinded to mutation status. In addition, the presence and coexistence of myoclonus and dystonia was recorded in four body regions (neck, arms, legs, and trunk) at rest and with action.Thirty-nine patients were included in the study (one case was excluded owing

2016 Frontiers in neurology

102. Reversible myoclonus, asterixis, and tremor associated with high dose trimethoprim-sulfamethoxazole: a case report Full Text available with Trip Pro

Reversible myoclonus, asterixis, and tremor associated with high dose trimethoprim-sulfamethoxazole: a case report Reversible myoclonus, tremor, and asterixis induced by high dose trimethoprim-sulfamethoxazole.The patient was a 66-year-old male with T9 AIS(1) C quadriplegia secondary to spinal cord compression by a tumor due to large B cell lymphoma. Subsequent to tumor resection and chemotherapy, the patient was discovered to have Pneumocystis jiroveci pneumonia (PJP). Once started on high (...) to be the first reported case of reversible myoclonus, tremor, and asterixis induced by high dose TMP-SMX in the spinal cord injury population. Early recognition of TMP-SMX induced complications were of key importance as they negatively impacted the rehabilitation process. We also recommend consideration of symptomatic treatment with levetiracetam for the duration of required TMP-SMX therapy as it appeared to mitigate the severity of our patient's movement disorders.

2016 The journal of spinal cord medicine

103. Progressive encephalomyelitis with rigidity and myoclonus (PERM): brucellosis as a possible triggering factor and long-term follow-up therapy with rituximab Full Text available with Trip Pro

Progressive encephalomyelitis with rigidity and myoclonus (PERM): brucellosis as a possible triggering factor and long-term follow-up therapy with rituximab 26788132 2016 01 20 2018 11 13 1756-2856 9 1 2016 Jan Therapeutic advances in neurological disorders Ther Adv Neurol Disord Progressive encephalomyelitis with rigidity and myoclonus (PERM): brucellosis as a possible triggering factor and long-term follow-up therapy with rituximab. 69-73 10.1177/1756285615614812 Magira Eleni E EE First

2016 Therapeutic advances in neurological disorders

104. Essential rhythmic palatal myoclonus in a 51-year-old man Full Text available with Trip Pro

Essential rhythmic palatal myoclonus in a 51-year-old man Essential palatal myoclonus is a rare movement disorder consisting of continuous rhythmic jerks of the soft palate; it usually develops secondary to brainstem or cerebellar disease called symptomatic rhythmic palatal myoclonus. Diagnosis is usually clinical, and some patients, however, fail to show evidence of a structural lesion like our patient called essential rhythmic palatal myoclonus. We report a 51-year-old man who has suffered

2016 Oxford Medical Case Reports

105. Autosomal Dominant Cortical Tremor, Myoclonus, and Epilepsy Syndrome mimicking Juvenile Myoclonic Epilepsy Full Text available with Trip Pro

Autosomal Dominant Cortical Tremor, Myoclonus, and Epilepsy Syndrome mimicking Juvenile Myoclonic Epilepsy Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME) syndrome is a genetically heterogeneous and under-recognized disease characterized by tremulous movements mimicking essential tremor, myoclonus, and rare generalized tonic-clonic seizures. Here we described the clinical and electrophysiological features of three siblings with ADCME syndrome mimicking juvenile myoclonic (...) and wave discharges. The N20-P25 and P25-N35 amplitudes were substantially higher in the three siblings with ADCME. Although tremor frequencies were similar to those of the ET group, the siblings had mild interrupting low-amplitude myoclonus, suggestive of cortical tremor, in the accelerometric analysis.We presented a detailed clinical evaluation with electrophysiological confirmation of ADCME syndrome in a Turkish family. This rare clinical picture might be misdiagnosed as JME and should be kept

2016 Archives of Neuropsychiatry

106. Post-hypoxic Myoclonus: Current Concepts, Neurophysiology, and Treatment Full Text available with Trip Pro

Post-hypoxic Myoclonus: Current Concepts, Neurophysiology, and Treatment Myoclonus may occur after hypoxia. In 1963, Lance and Adams described persistent myoclonus with other features after hypoxia. However, myoclonus occurring immediately after hypoxia may demonstrate different syndromic features from classic Lance-Adams syndrome (LAS). The aim of this review is to provide up-to-date information about the spectrum of myoclonus occurring after hypoxia with emphasis on neurophysiological (...) features.A literature search was performed on PubMed database from 1960 to 2015. The following search terms were used: "myoclonus," "post anoxic myoclonus," "post hypoxic myoclonus," and "Lance Adams syndrome." The articles describing clinical features, neurophysiology, management, and prognosis of post-hypoxic myoclonus cases were included for review.Several reports in the literature were separated clinically into "acute post-hypoxic myoclonus," which occurred within hours of severe hypoxia

2016 Tremor and Other Hyperkinetic Movements

107. Speech-activated Myoclonus Mimicking Stuttering in a Patient with Myoclonus–Dystonia Syndrome Full Text available with Trip Pro

Speech-activated Myoclonus Mimicking Stuttering in a Patient with Myoclonus–Dystonia Syndrome Acquired neurogenic stuttering has been considered a fairly uncommon clinical occurrence; speech-activated myoclonus is a rare entity that can mimic stuttering and is caused by a wide array of etiologies.Here we report a patient with myoclonus-dystonia syndrome (MDS), due to an identified disease-causing mutation, who displayed speech-activated myoclonus mimicking stuttering.In MDS, myoclonus has (...) only infrequently been reported to affect speech. This case further expands the spectrum of conditions causing the rare clinical phenomenon of speech-activated myoclonus.

2016 Tremor and Other Hyperkinetic Movements

108. Progressive myoclonus epilepsy associated with SACS gene mutations Full Text available with Trip Pro

Progressive myoclonus epilepsy associated with SACS gene mutations Pathogenic variants in the SACS gene (OMIM #604490) cause autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ARSACS is a neurodegenerative early-onset progressive disorder, originally described in French Canadians, but later observed elsewhere.(1) Whole-exome sequencing of a large group of patients with unclassified progressive myoclonus epilepsies (PMEs) identified 2 patients bearing SACS gene mutations.(2) We

2016 Neurology: Genetics

109. Opsoclonus myoclonus ataxia syndrome due to falciparum malaria in two Indian children Full Text available with Trip Pro

Opsoclonus myoclonus ataxia syndrome due to falciparum malaria in two Indian children Opsoclonus-myoclonus ataxia (OMA) syndrome is rare in children, mostly caused by neuroblastoma. Here, we present two very rare cases presenting with OMA due to falciparum malaria. Both of them responded to a high dose of adrenocorticotrophin hormone and intravenous immunoglobulin without recurrence and complication.

2016 Indian journal of ophthalmology

110. Orthostatic myoclonus associated with Caspr2 antibodies Full Text available with Trip Pro

Orthostatic myoclonus associated with Caspr2 antibodies 26944274 2016 09 06 2018 11 13 1526-632X 86 14 2016 Apr 05 Neurology Neurology Orthostatic myoclonus associated with Caspr2 antibodies. 1353-5 10.1212/WNL.0000000000002547 Gövert Felix F From Christian-Albrecht University of Kiel (F.G., K.W., H.H., S.P., G.D., F.L.), Germany; University College London (UCL) Institute of Neurology (R.E.), UK; August Pi i Sunyer Biomedical Research Institute (IDIBAPS) (E.M.-H., J.D.), Hospital Clínic (...) administration & dosage pharmacology Male Membrane Proteins immunology Myoclonus diagnosis drug therapy Nerve Tissue Proteins immunology Posture 2015 08 18 2015 11 30 2016 3 6 6 0 2016 3 6 6 0 2016 9 7 6 0 ppublish 26944274 WNL.0000000000002547 10.1212/WNL.0000000000002547 PMC4826340 Parkinsonism Relat Disord. 2013 Nov;19(11):1013-7 23916653 Mov Disord. 2011 Jul;26(8):1563-5 21469203 Ann Neurol. 2011 Feb;69(2):303-11 21387375 Brain. 2010 Sep;133(9):2734-48 20663977 Arch Neurol. 2007 Sep;64(9):1318-22

2016 Neurology

111. Snake bite-induced myoclonus, myokymia and myospasm with leukoencephalopathy: a video presentation Full Text available with Trip Pro

Snake bite-induced myoclonus, myokymia and myospasm with leukoencephalopathy: a video presentation 27095811 2017 01 04 2018 11 13 1757-790X 2016 2016 Apr 19 BMJ case reports BMJ Case Rep Snake bite-induced myoclonus, myokymia and myospasm with leukoencephalopathy: a video presentation. 10.1136/bcr-2016-214963 10.1136/bcr-2016-214963 bcr2016214963 Ramcharan Kanterpersad K http://orcid.org/0000-0003-2937-6362 Department of Medicine, San Fernando Teaching Hospital, San Fernando, Trinidad (...) 1757-790X IM Adult Animals Bothrops Humans Leukoencephalopathies etiology Male Myoclonus etiology Myokymia etiology Snake Bites complications 2016 4 21 6 0 2016 4 21 6 0 2017 1 5 6 0 epublish 27095811 bcr-2016-214963 10.1136/bcr-2016-214963 PMC4840739 Semin Neurol. 2004 Jun;24(2):175-9 15257514 BMJ Case Rep. 2013 Jan 18;2013:null 23334491 J Postgrad Med. 2014 Jan-Mar;60(1):89-90 24625952

2016 BMJ case reports

112. Giant early components of somatosensory evoked potentials to tibial nerve stimulation in cortical myoclonus Full Text available with Trip Pro

Giant early components of somatosensory evoked potentials to tibial nerve stimulation in cortical myoclonus Enlarged cortical components of somatosensory evoked potentials (giant SEPs) recorded by electroencephalography (EEG) and abnormal somatosensory evoked magnetic fields (SEFs) recorded by magnetoencephalography (MEG) are observed in the majority of patients with cortical myoclonus (CM). Studies on simultaneous recordings of SEPs and SEFs showed that generator mechanism of giant SEPs

2016 NeuroImage : Clinical

113. Opioid-induced myoclonus and hyperalgesia following a short course of low-dose oral morphine Full Text available with Trip Pro

Opioid-induced myoclonus and hyperalgesia following a short course of low-dose oral morphine A 76-year-old man was admitted to hospital with a right-sided fractured neck of femur requiring repair via a cemented hemiarthroplasty. Intraoperatively he received 10 mg of intravenous morphine. Post-operatively he received a short course of low-dose oral opioids and subsequently developed myoclonic jerks and hyperalgesia. The opioids were discontinued and both adverse effects resolved. This case (...) report discusses the concurrent development of myoclonus and hyperalgesia following a low dose of opioids and explores possible management options.

2016 British journal of pain

114. Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C Full Text available with Trip Pro

Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C Niemann-Pick type C (NP-C) is a rare autosomal recessive progressive neurodegenerative disorder caused by mutations in the NP-C 1 or 2 gene. Besides visceral symptoms, presentation in adolescent and adult onset variants is often with neurological symptoms. The most frequently reported presenting symptoms of NP-C in adulthood are psychiatric symptoms (38 %), cognitive decline (23 %) and ataxia (20 %). Myoclonus can (...) was evaluated by questionnaires (Rand-36, SIP-68, HAQ). In four of the five patients with myoclonic jerks simultaneous EEG with EMG was performed.A movement disorder was the initial neurological symptom in six patients: three with myoclonus and three with ataxia. Two others presented with psychosis. Four experienced cognitive deficits early in the course of the disease. Patients showed cognitive deficits in all investigated domains. Five patients showed myoclonic jerks, including negative myoclonus. In all

2016 Orphanet journal of rare diseases

115. The clinical heterogeneity of drug-induced myoclonus: an illustrated review Full Text available with Trip Pro

The clinical heterogeneity of drug-induced myoclonus: an illustrated review A wide variety of drugs can cause myoclonus. To illustrate this, we first discuss two personally observed cases, one presenting with generalized, but facial-predominant, myoclonus that was induced by amantadine; and the other presenting with propriospinal myoclonus triggered by an antibiotic. We then review the literature on drugs that may cause myoclonus, extracting the corresponding clinical phenotype and suggested (...) underlying pathophysiology. The most frequently reported classes of drugs causing myoclonus include opiates, antidepressants, antipsychotics, and antibiotics. The distribution of myoclonus ranges from focal to generalized, even amongst patients using the same drug, which suggests various neuro-anatomical generators. Possible underlying pathophysiological alterations involve serotonin, dopamine, GABA, and glutamate-related processes at various levels of the neuraxis. The high number of cases of drug

2016 Journal of neurology

116. Brain inflammation is accompanied by peripheral inflammation in Cstb−/− mice, a model for progressive myoclonus epilepsy Full Text available with Trip Pro

Brain inflammation is accompanied by peripheral inflammation in Cstb−/− mice, a model for progressive myoclonus epilepsy Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is an autosomal recessively inherited childhood-onset neurodegenerative disorder, characterized by myoclonus, seizures, and ataxia. Mutations in the cystatin B gene (CSTB) underlie EPM1. The CSTB-deficient (Cstb -/- ) mouse model recapitulates key features of EPM1, including myoclonic seizures. The mice

2016 Journal of neuroinflammation

117. Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome Full Text available with Trip Pro

Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome Loss-of-function mutations in SGCE, which encodes ε-sarcoglycan (ε-SG), cause myoclonus-dystonia syndrome (OMIM159900, DYT11). A "major" ε-SG protein derived from CCDS5637.1 (NM_003919.2) and a "brain-specific" protein, that includes sequence derived from alternative exon 11b (CCDS47642.1, NM_001099400.1), are reportedly localized in post- and pre-synaptic membrane fractions, respectively. Moreover (...) synthesis, cellular development, and cell death and survival. In comparison to WT littermates, Sgcem+/pGt mice exhibited "tiptoe" gait and stimulus-induced appendicular posturing between Postnatal Days 14 to 16. Abnormalities noted in older Sgcem+/pGt mice included reduced body weight, altered gait dynamics, and reduced open-field activity. Overt spontaneous or stimulus-sensitive myoclonus was not apparent on the C57BL/6J background or mixed C57BL/6J-BALB/c and C57BL/6J-129S2 backgrounds. Our data

2016 Neurobiology of disease

118. Unmasking of myoclonus by lacosamide in generalized epilepsy Full Text available with Trip Pro

Unmasking of myoclonus by lacosamide in generalized epilepsy Lacosamide is a new-generation antiseizure medication that is approved for use as an adjunctive treatment and monotherapy in focal epilepsy. Its use in generalized epilepsy, however, has not been adequately evaluated in controlled trials. We report a 67-year-old woman who experienced new-onset myoclonic seizures after initiation of lacosamide. We presume that she had an undiagnosed generalized epilepsy syndrome, likely juvenile (...) myoclonic epilepsy. Myoclonic seizures were not reported before introducing lacosamide and completely resolved after lacosamide was discontinued. This suggests that lacosamide may have the potential to worsen myoclonus, similar to what has been reported with another sodium channel agent, lamotrigine, in some individuals with genetic generalized epilepsy (GGE).

2016 Epilepsy & behavior case reports

119. Post-modern therapeutic approaches for progressive myoclonus epilepsy Full Text available with Trip Pro

Post-modern therapeutic approaches for progressive myoclonus epilepsy While the PME are arguably the severest epilepsies and neurological disorders, the vast majority are monogenic. Additionally, many affect straightforward biochemical pathways. Finally, by definition, they occur in previously healthy and well-developed brains. As such, their therapies should be easier than in complex, albeit often less severe, neurological developmental disorders where the complex, poorly understood

2016 Epileptic disorders : international epilepsy journal with videotape

120. Progressive Myoclonus Epilepsies: The Gene-Empowered Era Full Text available with Trip Pro

Progressive Myoclonus Epilepsies: The Gene-Empowered Era 27694067 2017 03 14 2017 11 18 1950-6945 18 S2 2016 Sep 01 Epileptic disorders : international epilepsy journal with videotape Epileptic Disord Progressive Myoclonus Epilepsy: The Gene-Empowered Era. 1-2 Minassian Berge A BA Striano Pasquale P Avanzini Giuliano G eng P01 NS097197 NS NINDS NIH HHS United States Introductory Journal Article Progressive Myoclonus Epilepsy: The Gene-Empowered Era. France Epileptic Disord 100891853 1294-9361

2016 Epileptic disorders : international epilepsy journal with videotape

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