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eaton lambert

Nataly I Montes-Chinea, Zhuo Guan, Marcella Coutts, Cecilia Vidal, Steve Courel, Adriana P Rebelo, Lisa Abreu, Stephan Zuchner, J Troy Littleton, Mario A Saporta
Objective: To report a new SYT2 missense mutation causing distal hereditary motor neuropathy and presynaptic neuromuscular junction (NMJ) transmission dysfunction. Methods: We report a multigenerational family with a new missense mutation, c. 1112T>A (p. Ile371Lys), in the C2B domain of SYT2 , describe the clinical and electrophysiologic phenotype associated with this variant, and validate its pathogenicity in a Drosophila model. Results: Both proband and her mother present a similar clinical phenotype characterized by a slowly progressive, predominantly motor neuropathy and clear evidence of presynaptic NMJ dysfunction on nerve conduction studies...
December 2018: Neurology. Genetics
Shin J Oh, Dushin Jeong, Ikjae Lee, Mohammad Alsharabati
INTRODUCTION: We are reporting our experience with the repetitive nerve stimulation (RNS) test in myasthenia gravis (MG) crisis. METHODS: The various parameters of the RNS tests in 26 patients with MG crisis were analyzed. RESULTS: In 18 (69%) patients, MG crisis is the first manifestation of MG. The RNS tests were abnormal in 24 (92%) patients by decrement at low-rate stimulation in any of four tested muscles. Three patterns of abnormality were found: MG pattern (decrement at low-rate stimulation) in 23 patients, Lambert-Eaton myasthenic syndrome pattern in one patient, and cholinergic crisis pattern in one patient...
November 29, 2018: Muscle & Nerve
Paul Maddison, Maarten J Titulaer, Jan J Verschuuren, Paul Gozzard, Bethan Lang, Sarosh R Irani, Lidia Sabater, Francesc Graus, Andrea Murray, Caroline J Chapman
Antibodies to SOXB1 proteins in patients with paraneoplastic disorders are associated with small-cell lung cancer (SCLC), particularly in Lambert-Eaton myasthenic syndrome (LEMS). We aimed to establish if SOX2 antibodies could be used to identify SCLC and other tumours found in a range of paraneoplastic disorders and controls. SOX2 antibodies were detectable in 61% of patients with LEMS-SCLC, and in other paraneoplastic disorders, such as opsoclonus-myoclonus and paraneoplastic cerebellar degeneration, only when there was an underlying SCLC...
November 8, 2018: Journal of Neuroimmunology
David Lacomis, Araya Puwanant
This update begins with myasthenia gravis and the roles of anti-agrin and cortactin antibodies. Regarding diagnosis, a report on repeated ice pack testing is highlighted as are several reports on the close correlation of electrodiagnostic testing with clinical features and the response to treatment. The incidence of head drop and associated clinical and ventilatory features are gleaned from a retrospective study. We also discuss a study that assessed the predominantly symmetric and conjugate ocular findings in MuSK-myasthenia gravis...
December 2018: Journal of Clinical Neuromuscular Disease
B Mark Hoffman, Nuhad Abou Zeid, Umar Alam, James B Caress
BACKGROUND: Alemtuzumab administration is known to cause secondary autoimmune disease but has not been associated with the development of neurologic autoimmune conditions. Lambert-Eaton myasthenic syndrome (LEMS) is caused by autoantibodies directed against calcium channels on the neuromuscular junction. CASE REPORT: We report a case of a patient with relapsing-remitting multiple sclerosis (RRMS) treated with alemtuzumab who develop generalized weakness initially attributed to progression of MS but eventually determined to be due to LEMS...
October 22, 2018: Multiple Sclerosis and related Disorders
Jessica Frey, Ann Murray
BACKGROUND: Voltage gated calcium channels (VGCC) are well-known targets for antibody-associated disease. Of the 5 VGCC subtypes, the most well-known is the P/Q subtype associated with Lambert-Eaton Myasthenic Syndrome (LEMS). However, this case focuses on the much less understood N-type calcium channel antibody. The objective of this case is to review the literature regarding the clinical significance of the N-type calcium channel antibody and its relationship to MS. METHODS: A 37-year old male presented with vertigo, paranoia, and tremor and had MRI changes suggestive of demyelinating disease...
September 25, 2018: Multiple Sclerosis and related Disorders
Vincenzo Todisco, Giovanni Cirillo, Rocco Capuano, Alessandro d'Ambrosio, Gioacchino Tedeschi, Antonio Gallo
Objective: To report the clinical features and the neurophysiological approach of a patient with Lambert-Eaton myasthenic syndrome (LEMS), highlighting the diagnostic role of the stimulated single fiber electromyography (sSFEMG). Case report: A 60-year-old woman presenting with the LEMS triad (proximal and axial weakness, autonomic dysfunction and areflexia) was evaluated by neurophysiological tests (electroneuromyography, repetitive stimulation test (TSR), voluntary and stimulated SFEMG)...
2018: Clinical Neurophysiology Practice
Guoqian Chen, Zhanli Fu, Xueqi Chen, Qian Li
A 46-year-old woman suffering from lower extremity weakness, dysarthria, dysphagia, dyspnea, and dry mouth was suspected of having Lambert-Eaton myasthenic syndrome based on the characteristic electromyographic abnormalities of right ulnar nerve, which demonstrated reduced resting compound muscle action potential amplitude and greater than 100% incremental change in high-frequency repetitive nerve stimulation. An F-FDG PET/CT was performed to detect the underlying neoplasm and revealed a retroperitoneal soft tissue mass with high F-FDG avidity in the left iliac fossa...
September 2018: Clinical Nuclear Medicine
Hakan Cetin, Angela Vincent
Autoimmune myasthenic syndromes are antibody-mediated disorders of the neuromuscular junction. Common antigenic targets are the acetylcholine receptor or muscle specific kinase (MuSK) in myasthenia gravis (MG) and the voltage-gated calcium channel in Lambert-Eaton myasthenic syndrome. There is evidence that antibodies directed against other antigens such as low-density lipoprotein receptor-related protein 4 (LRP4) are also involved in MG. The mechanisms by which various antibodies exert their pathogenic effect depend on the IgG subclass and also the epitope location on the antigens...
June 2018: Seminars in Neurology
Rodica Di Lorenzo, Karin Mente, Jianbo Li, Luay Shayya, Alexander Rae-Grant, Yuebing Li, Adham Jammoul
As testing for neuronal antibodies become more readily available, the spectrum of conditions potentially associated with these autoantibodies has been widening. Voltage-gated calcium channel antibodies (VGCC-Ab) are no exception to this trend. The significance of an elevated VGCC-Ab titer beyond its original clinicopathological correlate, Lambert-Eaton myasthenic syndrome (LEMS) remains undetermined. We sought to determine the diagnostic significance of an elevated serum VGCC-Ab titer in a large single-center cohort of 100 patients...
July 9, 2018: Journal of Neurology
A Bussat, S Langner-Lemercier, A Salmon, F Mouriaux
Paraneoplastic syndromes involving the visual system are a heterogeneous group of disorders occurring in the setting of systemic malignancy. Although these syndromes are rare, the clinical manifestations can herald an unsuspected, underlying malignancy. The associated antibodies and histopathology of each syndrome are presented to help in the understanding of these autoimmune phenomena. Outlined in this review article are diagnostic features useful in differentiating cancer-associated retinopathy, melanoma-associated retinopathy, paraneoplastic polymorphous vitelliform maculopathy, bilateral diffuse uveal melanocytic proliferation and paraneoplastic neurologic syndromes such as optic neuropathy, opsoclonus-myoclonus, Lambert-Eaton myasthenia and paraneoplastic cerebellar degeneration...
June 2018: Journal Français D'ophtalmologie
Rui Jia, Jinbo Chen, Ruli Ge, Qi Zheng, Fang Chen, Zhonghua Zhao
RATIONALE: Myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS) are both neuromuscular junction diseases, and some controversy exists whether the 2 diseases occur at the same time. PATIENT CONCERNS: We report a case that a patient with presentation of acetylcholine receptor (AChR) antibody positive MG and LEMS associated with small cell lung cancer (SCLC). DIAGNOSES: The patient firstly suffered from fluctuant symptoms, including slurred speech, double eyelid ptosis, and weakness of limbs...
June 2018: Medicine (Baltimore)
A Bussat, S Langner-Lemercier, A Salmon, F Mouriaux
Paraneoplastic syndromes involving the visual system are a heterogeneous group of disorders occurring in the setting of systemic malignancy. They are unrelated to local tumor invasion or metastasis and unexplained by nutritional, metabolic, infectious or iatrogenic causes. The presence of antibodies may aid in the diagnosis of a paraneoplastic syndrome, although this is not an absolute requirement. Chorioretinal involvement is seen in CAR (cancer-associated retinopathy) syndrome, MAR (melanoma-associated retinopathy) syndrome, paraneoplastic vitelliform maculopathy, and bilateral diffuse uveal melanocytic proliferation...
May 2018: Journal Français D'ophtalmologie
Hongfang Li, Aimei Zhang, Yanlei Hao, Hongzhi Guan, Zhanyun Lv
RATIONALE: Autoimmune encephalitis and Lambert-Eaton myasthenic syndrome are classic paraneoplastic neurological conditions common in patients with small cell lung cancer. PATIENT CONCERNS: The patient complained of tiredness, fluctuating recent memory loss, and inability to find his home. His family members reported a change in character, irritability, and paranoia. One month later, the patient had 1 grand mal seizure lasting 5 minutes. DIAGNOSIS: The patient was diagnosed with limbic encephalitis combined with Lambert-Eaton myasthenic syndrome...
May 2018: Medicine (Baltimore)
Paulo José Lorenzoni, Rosana Herminia Scola, Claudia Suemi Kamoi Kay, Lineu Cesar Werneck, Rita Horvath, Hanns Lochmüller
Congenital myasthenic syndromes (CMS) are heterogeneous genetic diseases in which neuromuscular transmission is compromised. CMS resembling the Lambert-Eaton myasthenic syndrome (CMS-LEMS) are emerging as a rare group of distinct presynaptic CMS that share the same electrophysiological features. They have low compound muscular action potential amplitude that increment after brief exercise (facilitation) or high-frequency repetitive nerve stimulation. Although clinical signs similar to LEMS can be present, the main hallmark is the electrophysiological findings, which are identical to autoimmune LEMS...
June 2018: Neuromolecular Medicine
Gregorio Arellano-Aguilar, Erik Santiago Núñez-Mojica, José Luis Gutiérrez-Velazco, Luis Gerardo Domínguez-Carrillo
Background: Neurological paraneoplastic syndromes are rare, occur in 0.01% of all cancer patients; like part of them, the Lambert-Eaton syndrome is an autoimmune presynaptic disorder of neuromuscular transmission characterized by muscle weakness and neurovegetative dysfunction, and often associated with small cell lung cancer. Case report: A 72 years old female with a family history of lung cancer and leukemia, with 7 months of dry cough and 3 months with waist and pelvic muscle weakness, oropharyngeal dysphagia, dry mouth, chronic constipation and weight loss of 10 kg...
2018: Cirugia y Cirujanos
Vita G Kesner, Shin J Oh, Mazen M Dimachkie, Richard J Barohn
Lambert-Eaton myasthenic syndrome is a paraneoplastic or primary autoimmune neuromuscular junction disorder characterized by proximal weakness, autonomic dysfunction and ariflexia. The characteristic symptoms are thought to be caused by antibodies generated against the P/Q-type voltage-gated calcium channels present on presynaptic nerve terminals and by diminished release of acetylcholine. More than half of Lambert-Eaton myasthenic syndrome cases are associated with small cell lung carcinoma. Diagnosis is confirmed by serologic testing and electrophysiologic studies...
May 2018: Neurologic Clinics
Hiroyuki Fukuda, Akira Tanaka, Yasuyuki Hirashima, Ichiro Ito
Lambert-Eaton myasthenic syndrome (LEMS) is most commonly associated with small cell lung carcinoma, while it is rarely associated with gynecological and breast carcinoma. We herein report a case of LEMS associated with synchronous double cancer, which was a combination of small cell carcinoma of the cervix and breast carcinoma. The early diagnosis and treatment of LEMS are important for achieving a good outcome. The possibility of accompanying paraneoplastic neurological syndrome must be sufficiently considered in gynecology and breast cancer patients...
August 15, 2018: Internal Medicine
Kee Hong Park, Patrick Waters, Mark Woodhall, Bethan Lang, Thomas Smith, Jung-Joon Sung, Kwang-Kuk Kim, Young-Min Lim, Jee-Eun Kim, Byung-Jo Kim, Jin-Sung Park, Jeong-Geon Lim, Dae-Seong Kim, Ohyun Kwon, Eun Hee Sohn, Jong Seok Bae, Byung-Nam Yoon, Nam-Hee Kim, Suk-Won Ahn, Jeeyoung Oh, Hyung Jun Park, Kyong Jin Shin, Yoon-Ho Hong
Acquired myasthenia gravis (MG) is a prototype autoimmune disease of the neuromuscular junction, caused in most patients by autoantibodies to the muscle nicotinic acetylcholine receptor (AChR). There seem to be ethnic and regional differences in the frequency and clinical features of MG seronegative for the AChR antibody. This study aimed to describe the autoantibody profiles and clinical features of Korean patients with generalized MG seronegative for the AChR antibody. A total of 62 patients with a high index of clinical suspicion of seronegative generalized MG were identified from 18 centers, and we examined their sera for antibodies to clustered AChR, muscle-specific tyrosine kinase (MuSK), and low-density lipoprotein receptor-related protein 4 (LRP4) by cell-based assays (CBA) and to MuSK by radioimmunoprecipitation assay (RIPA)...
2018: PloS One
Nakul Katyal, Raghav Govindarajan
Pure ocular presentation of Lambert-Eaton syndrome is not a common phenomenon. Such presentation poses significant diagnostic challenges and requires conscientious evaluation. In this review, we have described a case of a patient with pure ocular weakness, initially diagnosed as seronegative ocular myasthenia which on further evaluation was found to have ocular Lambert-Eaton myasthenic syndrome (LEMS).
December 31, 2017: Curēus
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