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2.
Neurology ; 95(6): e767-e772, 2020 08 11.
Artigo em Inglês | MEDLINE | ID: mdl-32439821

RESUMO

OBJECTIVE: To report 3 patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) who developed generalized myoclonus. METHODS: Patient data were obtained from medical records from the University Hospital "12 de Octubre," Madrid, Spain. RESULTS: Three patients (2 men and 1 woman, aged 63-88 years) presented with mild hypersomnia and generalized myoclonus following the onset of the so-called inflammatory phase of coronavirus disease 2019 (COVID-19). All of them had presented previously with anosmia. Myoclonus was generalized with both positive and negative jerks, predominantly involving the facial, trapezius, sternocleidomastoid, and upper extremities muscles. These myoclonic jerks occurred spontaneously and were extremely sensitive to multisensory stimuli (auditive and tactile) or voluntary movements, with an exaggerated startle response. Other causes of myoclonus were ruled out, and none of the patients had undergone respiratory arrest or significant prolonged hypoxia. All of them improved, at least partially, with immunotherapy. CONCLUSIONS: Our 3 cases highlight the occurrence of myoclonus during the COVID-19 pandemic as a post- or para-infectious immune-mediated disorder. However, we cannot rule out that SARS-CoV-2 may spread transneuronally to first- and second-order structures connected with the olfactory bulb. Further investigation is required to clarify the full clinical spectrum of neurologic symptoms and optimal treatment.


Assuntos
Betacoronavirus , Infecções por Coronavirus/complicações , Infecções por Coronavirus/diagnóstico por imagem , Mioclonia/diagnóstico por imagem , Mioclonia/etiologia , Pneumonia Viral/complicações , Pneumonia Viral/diagnóstico por imagem , Idoso , Idoso de 80 Anos ou mais , Infecções por Coronavirus/tratamento farmacológico , Feminino , Glucocorticoides/administração & dosagem , Humanos , Masculino , Metilprednisolona/administração & dosagem , Pessoa de Meia-Idade , Mioclonia/tratamento farmacológico , Pandemias , Pneumonia Viral/tratamento farmacológico
3.
J Neuroimmunol ; 341: 577192, 2020 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-32087460

RESUMO

Stiff person spectrum disorders (SPSD) are a broad group of immune-mediated disorders. Clinical presentations include classical stiff person syndrome (SPS), focal SPS, and progressive encephalomyelitis with rigidity and myoclonus (PERM). The most frequently associated antibodies are anti-GAD65, anti-GlyR, anti-amphiphysin, and anti-DPPX. Immunotherapy is the primary treatment modality. We present an illustrative case series of three patients: anti-GlyR antibody-mediated PERM presenting as rapidly progressive dementia; anti-amphiphysin antibody-mediated SPS; and SPS presentation with anti-Zic4 antibodies, spasmodic laryngeal stridor and fluctuating eyelid ptosis. Clinical characteristics, CSF findings, neurophysiological features, adequate immunological assays and a high suspicion index are essential for prompt diagnosis and management.


Assuntos
Diversidade de Anticorpos , Autoanticorpos/imunologia , Rigidez Muscular Espasmódica/imunologia , Idoso , Idoso de 80 Anos ou mais , Especificidade de Anticorpos , Autoantígenos/imunologia , Transtornos Cognitivos/etiologia , Transtornos Cognitivos/imunologia , Diarreia/etiologia , Diplopia/etiologia , Evolução Fatal , Transtornos Neurológicos da Marcha/etiologia , Humanos , Imunossupressores/uso terapêutico , Imunoterapia , Masculino , Pessoa de Meia-Idade , Rigidez Muscular/etiologia , Mioclonia/etiologia , Proteínas do Tecido Nervoso/imunologia , Neuroimagem , Fenótipo , Receptores da Glicina/imunologia , Convulsões/etiologia , Rigidez Muscular Espasmódica/complicações , Rigidez Muscular Espasmódica/diagnóstico por imagem , Rigidez Muscular Espasmódica/terapia , Fatores de Transcrição/imunologia , Tremor/etiologia
5.
Zhonghua Er Ke Za Zhi ; 58(2): 123-128, 2020 Feb 02.
Artigo em Chinês | MEDLINE | ID: mdl-32102149

RESUMO

Objective: To explore the clinical characteristics and genotyping results of childhood-onset myoclonus dystonia syndrome caused by SGCE variants. Methods: The clinical data of 9 children with SGCE-related myoclonus dystonia syndrome admitted at either the Department of Neurology, Beijing Children's Hospital, Capital Medical University or the Department of Pediatrics, Peking University First Hospital from May 2018 to October 2019 were collected and the patients were followed up. The definite diagnosis was made on the basis of whole exome sequencing and multiple ligation-dependent probe amplification. The clinical features and gene test results were analyzed retrospectively. Results: Data of 9 patients (4 boys and 5 girls) diagnosed as myoclonus dystonia syndrome caused by SGCE variants were collected. The onset age ranged from 1 year to 3 years and 2 months. The first symptom was myoclonus in 4 cases, while dystonia in the remaining 5 cases. In the course of the disease, 9 cases had myoclonus and 8 had dystonia. Myoclonic jerks were characterized by involuntary jerks in both upper limbs in 8 patients. Six patients had involuntary jerks of lower limbs, resulting in gait instability or even falling. The myoclonus was exacerbated during the fine motor activities, emotional stress or fatigue. Dystonia was characterized by abnormal gait, including 5 cases with right leg dystonia, and 3 cases with the left leg dystonia. Three probands had a positive family history. Intellectual development was normal in all cases. There was no obvious abnormality in video-electroencephalogram (EEG) during both ictal and interictal periods. Electromyography (EMG) and brain magnetic resonance imaging (MRI) of 9 patients were normal. Nine patients carried SGCE gene variants, including 3 frame shift variants, 2 nonsense variants, 2 missense variants, 1 fragment deletion variant and 1 splice site variant. Seven variants were inherited paternally, and 2 variants were de novo. Madopar was used in 8 patients, and nitrazepam in 4 patients, leading to the decrease in the myoclonus jerks and improvement of gait in 6 and 2 patients, respectively. Conclusions: SGCE gene variants can cause myoclonus dystonia syndrome. The onset of the disease may occur at infancy or preschool age, with either myoclonic jerks or dystonia as the initial symptom. Non-epileptic myoclonus is the prominent symptom, with upper limb mainly involved. Most of the patients have the accompanying symptoms of dystonia, and some of them may have spontaneous symptom relief. SGCE gene is imprinted maternally, and the inherited variants of SGCE are paternal in origin.


Assuntos
Distonia/diagnóstico , Distonia/genética , Distúrbios Distônicos/diagnóstico , Distúrbios Distônicos/genética , Mioclonia/diagnóstico , Sarcoglicanas/genética , Idade de Início , Criança , Pré-Escolar , Distúrbios Distônicos/etiologia , Feminino , Deleção de Genes , Marcadores Genéticos/genética , Humanos , Lactente , Masculino , Músculo Esquelético/metabolismo , Músculo Esquelético/fisiopatologia , Mutação/genética , Mioclonia/genética , Estudos Retrospectivos , Sarcoglicanas/metabolismo
7.
World Neurosurg ; 136: 44-48, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31917309

RESUMO

BACKGROUND: Spinal myoclonus (SM) is a rare hyperkinetic movement disorder that is either idiopathic or secondary to spinal cord lesions. The treatment is either symptomatic only or addresses the underlying etiology. We describe 2 patients with SM with compression myelopathy who were treated with spinal cord stimulation (SCS). CASE DESCRIPTION: The first patient was a 39-year-old man with cervicobrachial pain owing to compression myelopathy at level C5-6 underwent fusion. A year later, he developed neurologic deficits including left-limb dominant tetraparesis and involuntary movements of the right leg. Despite ventral fusion at C5-7 due to progressive myelopathy, the involuntary movements extended to both left extremities. A paddle electrode was placed at level C5-6. SM disappeared immediately under stimulation, and the effect continued even after 24 months. The second patient, a 57-year-old man, underwent fusion at level C5-6 in 1998. Since then, he experienced a persistent tremor in his left hand. After 20 years, he developed cervicobrachial pain of the right upper limb with paresis. Compression myelopathy at segment C6-7 was treated with fusion plating. Six months later, pain returned in both upper limbs, and the tremor extended discretely to his right side. A paddle electrode for SCS was placed at level C7-Th1. SM disappeared immediately under stimulation, and the effect persisted after 10 months. Both patients reported sustained pain reduction. CONCLUSIONS: SCS might offer a more selective medicament-free therapy option for SM. The activation of intraspinal networks and replacement of supraspinal descending influences are mechanisms of SCS in this disorder.


Assuntos
Vértebras Cervicais/cirurgia , Deslocamento do Disco Intervertebral/cirurgia , Mioclonia/terapia , Compressão da Medula Espinal/cirurgia , Estimulação da Medula Espinal/métodos , Adulto , Descompressão Cirúrgica , Humanos , Deslocamento do Disco Intervertebral/complicações , Deslocamento do Disco Intervertebral/diagnóstico por imagem , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Mioclonia/etiologia , Compressão da Medula Espinal/diagnóstico por imagem , Compressão da Medula Espinal/etiologia , Fusão Vertebral
9.
Neurol Neurochir Pol ; 54(1): 33-38, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31956970

RESUMO

AIM OF THE STUDY: This paper describes six cases of patients with myoclonus-dystonia syndrome who are members of a family in which an SGCE gene mutation has been confirmed. CLINICAL RATIONALE FOR THE STUDY: Myoclonus-dystonia syndrome is a very rare disease, with an incidence in Europe of about 2 in every million. Due to the fact that only a few case reports of this illness are accessible in the literature, the material we collected seems to be valuable for clinical practice. MATERIALS AND METHODS: A history was taken, and physical and genetic examinations of the patients were performed. Furthermore, the clinical examination of three patients was video-recorded. RESULTS: The clinical picture of the disease varied significantly between the described individuals, from a healthy carrier of the SGCE mutation to patients presenting mild to moderate symptoms. The differences concerned the age at onset of the disease, the initial symptoms, the intensity of involuntary movements, and the predominant symptoms. In addition to the typical movement disorders which are myoclonus and dystonia, in the described family there was also the coexistence of epilepsy, obsessive-compulsive behaviour, dyslexia, dysgraphia, non-harmonious development of cognitive processes, as well as mild phenotypic features of muscular dystrophy. The mutation (NM_001099401.2:c.806-809delACTG) found in the presented family has not been described elsewhere. CONCLUSIONS AND CLINICAL IMPLICATIONS: Our description of six cases of patients demonstrates the heterogeneity of the natural course of the disease, even in patients with the same mutation. It seems reasonable to regularly examine relatives of patients with myoclonus-dystonia syndrome, who should be observed for involuntary movements as well as non-motor symptoms.


Assuntos
Mutação , Sarcoglicanas/genética , Distúrbios Distônicos , Humanos , Mioclonia , Fenótipo
10.
Medicine (Baltimore) ; 98(49): e18160, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31804328

RESUMO

RATIONALE: stiff limb syndrome (SLS) is a variant of stiff-man syndrome, primarily affecting a specific limb. Its diagnosis has always been challenging due to the lack of a specific confirmation test. We present a rare case of a patient with lower limb myoclonus and rigidity. PATIENT CONCERNS: A 53-year-old male presented with a sudden onset of progressive left lower extremity myoclonus and muscle rigidity for 3 days. He rapidly showed signs of right lower limb involvement with severe joint stiffness and inability to walk. DIAGNOSIS: The symptoms nature, physical examination, careful elimination of differential diagnosis suggested a diagnosis of stiff limb syndrome. INTERVENTIONS: Intravenous infusion of gamma globulin 0.4 mg/kg coupled with baclofen and clonazepam were given after admission. He also received an injection of botulinum toxin A to relieve his muscle stiffness. OUTCOMES: The patients' condition improved after the initial treatment with complete disappearance of muscle twitching. Further improvements were seen later on after the local administration of botulinum toxin A. LESSONS: Stiff limb syndrome shares the same complex symptoms with many other conditions. Its diagnosis relies heavily on clinical presentations and on ruling out other conditions. However, unusual symptoms such as myoclonus can occur in few cases and together with the rarity of the condition, the prevalence of misdiagnosis is high. Therefore, being aware and recognizing the signs and symptoms is crucial for proper management. Additionally, EMG is a very important test if the present condition is suspected. However, a negative EMG result or a negative anti-glutamic acid decarboxylase antibody test should not exclude SLS diagnosis.


Assuntos
Rigidez Muscular/etiologia , Mioclonia/etiologia , Rigidez Muscular Espasmódica/complicações , Rigidez Muscular Espasmódica/fisiopatologia , Baclofeno/uso terapêutico , Toxinas Botulínicas Tipo A/uso terapêutico , Diagnóstico Diferencial , Eletromiografia , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Extremidade Inferior , Masculino , Pessoa de Meia-Idade , Rigidez Muscular/fisiopatologia , Mioclonia/fisiopatologia , Rigidez Muscular Espasmódica/diagnóstico , Rigidez Muscular Espasmódica/tratamento farmacológico
11.
Zhonghua Er Ke Za Zhi ; 57(12): 943-949, 2019 Dec 02.
Artigo em Chinês | MEDLINE | ID: mdl-31795561

RESUMO

Objective: To investigate the electroclinical findings in epilepsy children with epileptic negative myoclonus (ENM) restricted to the lower limb as the first seizure type. Methods: Each retrieved electroencephalogram record performed between March 2011 and March 2018 at the Department of Pediatrics of Peking University First Hospital was searched with "midline" . There were 302 records of 175 patients with "benign" or "functional" midline spikes. A retrospective review of each patient's hospital record was performed. Thirteen patients had ENM restricted to the lower limb as the first seizure type. The clinical and electroencephalogram characteristics of them were analyzed. Results: Thirteen patients manifested ENM restricted to the lower limb as the first seizure type, diagnosed as benign childhood focal epilepsy with vertex spikes (BEVS). Six patients had ENM as the first and only seizure type during the short-time follow-up. Among them, there were 1 male and 5 females. The age at seizure onset was (2.5±0.7) years. One of them had electrical status epilepticus during sleep (ESES) identified on electroencephalogram at theage of 4 years and 8 months. The last follow-up age was (3.8±1.5) years. The remaining 7 patients developed nocturnal focal motor seizures. Among them, there were 4 males and 3 females. The age at seizure onset was (3.5±0.7) years. Two of them were diagnosed as BEVS evolving into benign childhood epilepsy with centrotemporal spikes (BECTS) and 5 were diagnosed as BEVS concurring with BECTS. The age at focal seizures was (4.1±0.6) years. The interval ranged from 1 month to 1 years. Six of 7 patients had electrical ESES with the age of (5.2±1.0) years. All had developmental regression, further diagnosed as atypical benign partial epilepsy (ABPE). The median age at last follow-up was 5.9 years. Five of 13 patients had repeated electroencephalogram records at our apartment, showing that epileptiform discharges in midline regions were significantly reduced either in frequency or amplitude with the improvement of ENM restricted to the lower limb and that independent epileptiform discharges in Rolandic regions from midline regions were noticed with the onset of nocturnal focal seizures. Conclusions: ENM restricted to the lower limb has a close association with vertex (midline) epileptiform discharges. ENM restricted to the lower limb as the first seizure type is a peculiar phenomenon of BEVS. Some patients could evolve into BECTS or overlap with BECTS, and further into ABPE. The age of seizure onset in BEVS with ENM restricted to the lower limb as the first symptom is a little earlier than in BECTS. Ignorance of the close association between midline spikes and ENM restricted to the lower limb may lead to misdiagnosis of these patients.


Assuntos
Epilepsias Parciais/diagnóstico , Epilepsia Rolândica/diagnóstico , Mioclonia/diagnóstico , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Convulsões/etiologia
12.
Rev Assoc Med Bras (1992) ; 65(9): 1188-1192, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31618336

RESUMO

OBJECTIVE: We aimed to explore the effects of neuropeptides ghrelin, obestatin, and vasoactive intestinal peptide (VIP) on seizures and plasma concentrations of neuroinflammation biomarkers including calcitonin gene-related peptide (CGRP), substance-P (SP), and interleukin-1 beta (IL-1ß) in pentylenetetrazol-induced seizures in rats. METHODS: Ghrelin (80 µg/kg), obestatin (1 µg/kg), VIP (25 ng/kg) or saline were administered to rats intraperitoneally 30 min before pentylenetetrazole (PTZ, 50 mg/kg) injections. Stages of epileptic seizures were evaluated by Racine's scale, and plasma CGRP, SP, and IL-1ß concentrations were measured using ELISA. RESULTS: Both obestatin and VIP shortened onset-time of generalized tonic-clonic seizure, respectively, moreover VIP also shortened the onset-time of first myoclonic-jerk induced by PTZ. While PTZ increased plasma CGRP, SP and IL-1ß concentrations, ghrelin reduced the increases evoked by PTZ. While VIP further increased PTZ-evoked CGRP levels, it diminished IL-1ß concentrations. However, obestatin did not change CGRP, SP, and IL-1ß concentrations. CONCLUSION: Our results suggest that ghrelin acts as an anticonvulsant, obestatin acts as a proconvulsant, and VIP has dual action on epilepsy. Receptors of those neuropeptides may be promising targets for epilepsy treatment.


Assuntos
Convulsivantes/efeitos adversos , Neuropeptídeos/efeitos dos fármacos , Pentilenotetrazol/efeitos adversos , Hormônios Peptídicos/farmacologia , Convulsões/induzido quimicamente , Animais , Biomarcadores/sangue , Peptídeo Relacionado com Gene de Calcitonina/sangue , Peptídeo Relacionado com Gene de Calcitonina/efeitos dos fármacos , Modelos Animais de Doenças , Grelina/farmacologia , Inflamação , Interleucina-1beta/sangue , Interleucina-1beta/efeitos dos fármacos , Masculino , Mioclonia , Distribuição Aleatória , Ratos Wistar , Convulsões/metabolismo , Substância P/sangue , Substância P/efeitos dos fármacos , Fatores de Tempo , Peptídeo Intestinal Vasoativo/farmacologia
13.
BMC Neurol ; 19(1): 253, 2019 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-31656175

RESUMO

BACKGROUND: We encountered two unrelated individuals suffering from neurological disorders, including epilepsy and scoliosis. CASE PRESENTATION: Whole-exome sequencing identified the same recurrent, de novo, pathogenic variant in NUS1 [NM_138459.4:c.691 + 1C > A] in both individuals. This variant is located in the conserved cis-prenyltransferase domain of the nuclear undecaprenyl pyrophosphate synthase 1 gene (NUS1), which encodes the Nogo-B receptor, an essential catalyst for protein glycosylation. This variant was confirmed to create a new splice donor site, resulting in aberrant RNA splicing resulting in a 91-bp deletion in exon 3 in both individuals. The mutant mRNA was partially degraded by nonsense mediated mRNA decay. To date, only four de novo variants and one homozygous variant have been reported in NUS1, which cause developmental and epileptic encephalopathy, early onset Parkinson's disease, and a congenital disorder of glycosylation. Seven patients, including our two patients, have presented with epileptic seizures and intellectual disabilities. CONCLUSIONS: Our study strongly supports the finding that this recurrent, de novo, variant in NUS1 causes developmental and epileptic encephalopathy with involuntary movement, ataxia and scoliosis.


Assuntos
Ataxia/genética , Epilepsia/genética , Mioclonia/genética , Receptores de Superfície Celular/genética , Escoliose/genética , Feminino , Humanos , Deficiência Intelectual/genética , Masculino , Mutação , Linhagem , Sítios de Splice de RNA
15.
J Ayub Med Coll Abbottabad ; 31(3): 448-453, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31535526

RESUMO

Neurology still remains one of the most underserved specialties of medicine in Pakistan with roughly one neurologist per million people. Movement disorders (MD) are neurological problems that interfere with patient's motor abilities and diagnosis is typically clinical. In this review, we describe a practical approach to common MD emergencies that may be encountered by a non-neurologist physician, emphasizing on formulating a working diagnosis and their immediate management. Movement disorder emergencies can be classified based on MD phenomenology and we will provide a brief overview of dystonia including acute dystonic reaction, PAID syndrome and dystonic storm; chorea, myoclonus including serotonin syndrome and startle disease; and rigidity including neuroleptic malignant syndrome and malignant hyperthermia.


Assuntos
Distonia/terapia , Transtornos dos Movimentos/complicações , Mioclonia/terapia , Coreia/etiologia , Coreia/terapia , Delírio/etiologia , Delírio/terapia , Distonia/etiologia , Emergências , Humanos , Hipertermia Maligna/etiologia , Hipertermia Maligna/terapia , Mioclonia/etiologia , Síndrome Maligna Neuroléptica/etiologia , Síndrome Maligna Neuroléptica/terapia , Paquistão
17.
Artigo em Inglês | MEDLINE | ID: mdl-31498332

RESUMO

Background: A 54-year-old Thai male who has suffered from multiple episodes of ischemic and hemorrhagic strokes developed facio-oculo-palatal myoclonus (FOPM) 1 month after the latest episode of the brainstem stroke. Phenomenology Shown: The patient presented with semirhythmic, involuntary, horizontal jerky, and rotatory ocular oscillation concomitant with asymmetrical palatal and perioral myoclonus consistent with FOPM. Educational value: FOPM is a useful clinical clue for diagnosing brainstem lesions, specifically in the Guillain-Mollaret triangle. The commonest etiology is cerebrovascular diseases.


Assuntos
Infartos do Tronco Encefálico/fisiopatologia , Mioclonia/fisiopatologia , Infartos do Tronco Encefálico/complicações , Músculos Faciais/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Mioclonia/etiologia , Transtornos da Motilidade Ocular/etiologia , Transtornos da Motilidade Ocular/fisiopatologia , Palato/fisiopatologia , Gravação em Vídeo
18.
Artigo em Inglês | MEDLINE | ID: mdl-31413889

RESUMO

Background: Treatment of posthypoxic myoclonus (PHM) can be a challenge in patients not responsive to first-line medications. PMH is a rare condition that has a dramatic impact on patients' quality of life. Refractory cases are not uncommon. Case report: We report a patient with PHM non-responsive to conventional treatments who showed a dramatic improvement with sodium oxybate (SBX). Cases of PHM treated with SBX reported in the literature were reviewed. Discussion: Resting and stimulus-induced myoclonus respond robustly to SBX, with significant improvement in patients' quality of life. SBX may be considered in patients with PHM resistant to first-line medications.


Assuntos
Resistência a Múltiplos Medicamentos/efeitos dos fármacos , Hipóxia Encefálica/tratamento farmacológico , Mioclonia/tratamento farmacológico , Oxibato de Sódio/farmacologia , Adulto , Eletroencefalografia/métodos , Humanos , Masculino , Qualidade de Vida , Síndrome , Adulto Jovem
19.
Artigo em Inglês | MEDLINE | ID: mdl-31413899

RESUMO

Background: Myoclonus-dystonia usually presents variable combination of myoclonus and dystonia mainly affecting the neck and arms, but leg involvement, especially as the presenting sign, is not common. Case report: A 29-year-old lady with a heterozygous mutation in Epsilon-sarcoglycan (SGCE) gene is presented with rapid jerks of the right leg interfering with walking. She has also manifested dystonic posture and jerks of the trunk and proximal upper limbs. Discussion: Although it is not typical, leg involvement could be a manifestation of myoclonus-dystonia either at presentation or during disease progression.


Assuntos
Distúrbios Distônicos/genética , Marcha/genética , Mioclonia/genética , Sarcoglicanas/genética , Adulto , Distúrbios Distônicos/diagnóstico , Feminino , Humanos , Mutação/genética , Mioclonia/diagnóstico , Fenótipo
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