Search Our Scientific Publications & Authors

Brain Nerve 2019 Feb;71(2):167-174

Department of Neurology and Strokology, Nagasaki University Hospital.

A 63-year-old female who developed dizziness, diplopia and subsequent gait disturbance from September X-1 year was analyzed. The first neurological findings in May X year revealed cerebellar ataxia, weakness in the proximal limbs, decreased tendon reflexes, and autonomic symptoms (ADL:mRS 3). Furthermore, an incremental phenomenon was observed in the repetitive nerve stimulation test, and she was diagnosed with Lambert-Eaton myasthenic syndrome (LEMS) based on the serum P/Q-type calcium channel (VGCC) antibody positivity. Read More

Am J Ophthalmol 2019 Jan 14. Epub 2019 Jan 14.

Department of Ophthalmology. Electronic address:

Purpose: To report the incidence, demographics, and ocular findings of children with myasthenia DESIGN: Retrospective cohort study METHODS: The medical records of all children (< 19 years) examined at Mayo Clinic with any form of myasthenia from January 1 1966, through December 31, 2015, were retrospectively reviewed.

Results: A total of 364 children were evaluated during the study period, of which 6 children were residents of the Olmsted County at the time of their diagnosis, yielding an annual age- and sex-adjusted incidence of 0.35 per 100,000 <19 years, or 1 in 285,714 <19 years. Read More

Case Rep Neurol 2018 Sep-Dec;10(3):346-352. Epub 2018 Dec 5.

Department of Respiratory Medicine, Osaka Police Hospital, Osaka, Japan.

Lambert-Eaton myasthenic syndrome (LEMS) is a representative paraneoplastic neurological syndrome. Recently, nivolumab, an anti-programmed cell death 1 inhibitor, has been approved for advanced non-small-cell lung cancer. Careful attention should be paid to immune-related adverse events (irAEs), including neurotoxicity. Read More

Neurol Genet 2018 Dec 22;4(6):e282. Epub 2018 Oct 22.

Department of Neurology (N.I.M.-C., M.C., C.V., M.A.S.), University of Miami Miller School of Medicine FL; Department of Biology (Z.G., J.T.L.) and Department of Brain and Cognitive Sciences (Z.G., J.T.L.), The Picower Institute for Learning & Memory, Massachusetts Institute of Technology, Cambridge; and Department of Human Genetics (S.C., A.P.R., L.A., S.Z., M.A.S.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.

Objective: To report a new 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. Read More

Intern Med J 2018 12;48(12):1541-1542

Sunshine Hospital, Western Health, Melbourne, Victoria, Australia.

Muscle Nerve 2018 Nov 29. Epub 2018 Nov 29.

Department of Neurology, University of Alabama at Birmingham, UAB Station, Birmingham, Alabama, 35294, USA.

Introduction: Herein we report 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. Read More

J Neuroimmunol 2019 Jan 8;326:14-18. Epub 2018 Nov 8.

Department of Pathology, Nottingham University Hospitals NHS Trust, Queen's Medical Centre, Nottingham NG7 2UH, UK.

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. Read More

J Clin Neuromuscul Dis 2018 Dec;20(2):76-84

Pathology (Neuropathology), University of Pittsburgh School of Medicine, Pittsburgh, PA.

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. Read More

Mult Scler Relat Disord 2019 Jan 22;27:131-132. Epub 2018 Oct 22.

Wake Forest School of Medicine, Department of Neurology, One Medical Center Blvd, Winston Salem, NC 27157, USA. Electronic address:

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. Read More

Mult Scler Relat Disord 2018 Nov 25;26:201-203. Epub 2018 Sep 25.

Department of Neurology, West Virginia University, 1 Medical Center Drive, Morgantown, WV 26505, USA.

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. Read More

Clin Neurophysiol Pract 2018 13;3:148-150. Epub 2018 Aug 13.

I Division of Neurology and Neurophysiopathology, University of Campania "Luigi Vanvitelli", Naples, Italy.

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). We reported: ) increase of compound muscle action potential (CMAP) amplitude (>60%) following brief isometric exercise compared to the rest (baseline); ) decremental/incremental response of CMAP amplitude at low- (3 Hz) and high-frequency (30 Hz) repetitive stimulation test (RST), respectively; ) increased neuromuscular jitter and blocking at voluntary single-fiber electromyography (vSFEMG); ) stimulation rate-dependent reduction of the neuromuscular jitter and blocking at sSFEMG. Read More

Clin Nucl Med 2018 Sep;43(9):697-698

Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA.

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. The patient's symptoms were prominently relieved after the tumor resection, and the histopathology indicated a small cell carcinoma. Read More

Semin Neurol 2018 06 16;38(3):344-354. Epub 2018 Jul 16.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.

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. Read More

J Neurol 2018 Jul 9. Epub 2018 Jul 9.

Department of Specialty Medicine, Neurohospitalist Service, Aultman Hospital, Neurohospitalist Office, 5th Floor, 2600 6th SW, Canton, OH, 44710, USA.

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. Read More

Medicine (Baltimore) 2018 Jun;97(23):e10976

Department of Oncology, Binzhou Medical University Hospital, Binzhou, Shandong, P.R. China.

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. Read More

J Fr Ophtalmol 2018 May 18;41(5):e181-e185. Epub 2018 May 18.

Ophthalmology Service, CHU de Rennes, 35033 Rennes cedex, France. Electronic address:

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. Read More

Medicine (Baltimore) 2018 May;97(19):e0696

Department of Neurology, Affiliated Hospital of Jining Medical University, Jining.

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. Read More

Neuromolecular Med 2018 06 25;20(2):205-214. Epub 2018 Apr 25.

Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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. Read More

Cir Cir 2018 ;86(1):79-83

Medicina de Rehabilitación, Facultad de Medicina, Universidad de Guanajuato. León, Gto., México.

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. Read More

Neurol Clin 2018 May;36(2):379-394

Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Mail Stop 2012, Kansas City, KS 66160, USA.

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. Read More

Brain Nerve 2018 Apr;70(4):341-355

Department of Neurology and Strokology, Nagasaki University Hospital.

Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease of the neuromuscular junction. Approximately 50-60% of patients with LEMS have a tumor, most often small cell lung cancer (SCLC), making LEMS a paraneoplastic neurological syndrome. In Japan, the clinical picture is a male: female ratio of 3:1; mean age, 62 years (17-80 years); and 61% of LEMS patients have SCLC (SCLC-LEMS), with the remainder of patients having no cancer. Read More

Intern Med 2018 Aug 9;57(16):2409-2411. Epub 2018 Mar 9.

Division of Pathology, Shizuoka Cancer Center Hospital, Japan.

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. Read More

PLoS One 2018 8;13(3):e0193723. Epub 2018 Mar 8.

Department of Neurology, Seoul National University College of Medicine, Seoul National University Seoul Metropolitan Government Boramae Medical Center, Seoul National University Medical Research Council, Seoul, Republic of Korea.

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. Read More

Cureus 2017 Dec 31;9(12):e2007. Epub 2017 Dec 31.

Neurology, University of Missouri Columbia.

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). Read More

Arq Neuropsiquiatr 2018 Feb;76(2):124-126

Universidade Federal do Paraná, Hospital de Clínicas, Departamento de Clínica Médica, Serviço de Neurologia, Serviço de Doenças Neuromusculares, Curitiba PR, Brasil.

This historical review describes the contribution of Drs. Lee M. Eaton and Edward H. Read More

Tidsskr Nor Laegeforen 2018 02 5;138(3). Epub 2018 Feb 5.

Muscle Nerve 2018 May 12;57(5):E130. Epub 2018 Feb 12.

Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.

J Clin Neurosci 2018 Apr 19;50:194-198. Epub 2018 Feb 19.

Department of Neurology, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea. Electronic address:

3,4-Diaminopyridine (34DAP) is a presynaptic transmission enhancer. Its efficacy for Lambert-Eaton myasthenic syndrome (LEMS) and myasthenia gravis (MG) was demonstrated. However, there are cases sharing the characteristics of both disease and the effect of 34DAP in "gray zone" patients is sparse. Read More

Rinsho Shinkeigaku 2018 Feb 31;58(2):83-87. Epub 2018 Jan 31.

Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University.

In this independent clinical study, we analyzed retrospectively the clinical features of 9 cases (6 male and 3 female) of Lambert-Eaton myasthenic syndrome that were administered 3,4-diaminopyridine (3,4-DAP). Four cases showed no cancer and 5 cases had small cell lung carcinoma. Seven cases were positive for anti voltage-gated calcium channel antibodies. Read More

Ann N Y Acad Sci 2018 Feb 28;1413(1):119-125. Epub 2018 Jan 28.

Department of Medicine and Rehabilitation, University of California Davis, Sacramento, California.

We report a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin α5 subunit gene (LAMA5). The variant c.8046C > T (p. Read More

Muscle Nerve 2018 Jan 24. Epub 2018 Jan 24.

Department of Clinical Neurology, University of Nottingham, Queen's Medical Centre, Nottingham, NG7 2UH, UK.

Int J Neurosci 2018 Sep 5;128(9):821-827. Epub 2018 Feb 5.

b Department of Neurology , General Hospital of Jinan Military Command , Jinan , China.

Objective: To analyze the clinical features, diagnostic strategies and therapeutic methods associated with paraneoplastic neurological syndromes.

Methods: A retrospective study of paraneoplastic neurological syndromes was performed at a single center in Shandong, East China. The medical records and follow-up data of 28 patients were intensively reviewed between February 2011 and December 2014. Read More

J Assoc Physicians India 2017 Sep;65(9):98-99

Resident, Dept. of Medicine, INHS Asvini, Mumbai, Maharashtra.

Tumours may produce growth factors and cytokines responsible for signs and symptoms distant to the primary or metastatic site. This may be the first sign of a malignancy and its recognition may be critical for early cancer detection. Moreover, proper diagnosis spares the patient of extensive and expensive search for an alternate cause of the neurological dysfunction. Read More

Muscle Nerve 2018 Apr 2;57(4):561-568. Epub 2018 Feb 2.

Jacobus Pharmaceutical Company, Princeton, New Jersey.

Introduction: 3,4-diaminopyridine has been used to treat Lambert-Eaton myasthenia (LEM) for 30 years despite the lack of conclusive evidence of efficacy.

Methods: We conducted a randomized double-blind placebo-controlled withdrawal study in patients with LEM who had been on stable regimens of 3,4-diaminopyridine base (3,4-DAP) for ≥ 3 months. The primary efficacy endpoint was >30% deterioration in triple timed up-and-go (3TUG) times during tapered drug withdrawal. Read More

Muscle Nerve 2017 Dec 22. Epub 2017 Dec 22.

Department of Neurology, College of Medicine, Mayo Clinic, 200 1st Street SW, Rochester, Minnesota, 55905, USA.

Introduction: Neuronal calcium channel antibodies are a biomarker of Lambert-Eaton syndrome (LES) and cerebellar ataxia. We have encountered several patients with LES and cerebellar ataxia coexisting, and we sought to further define this association.

Methods: We reviewed records of patients at our institution with a diagnosis of "Lambert-Eaton syndrome" and "cerebellar ataxia. Read More

J Gen Fam Med 2017 10 13;18(5):282-284. Epub 2017 Apr 13.

Department of Neurology Japanese Red Cross Medical Center Shibuya-ku TokyoJapan.

This report describes the case of a 65-year-old male who complained of muscular weakness of the legs with easy fatigability. Blood and imaging examinations showed positive anti-acetylcholine receptor antibody and an anterior mediastinal tumor (probably a thymic cyst), suggesting the diagnosis of myasthenia gravis (MG). However, neurological and electrophysiological examinations suggested the diagnosis of Lambert-Eaton myasthenic syndrome (LEMS). Read More

Continuum (Minneap Minn) 2017 12;23(6, Neuro-oncology):1653-1679

Purpose Of Review: Paraneoplastic neurologic syndromes target specific areas of the nervous system with pathogenic autoantibodies or T-cell responses. Each syndrome conveys a risk of particular tumors. Expanded paraneoplastic antibody testing has led to improved diagnosis but created challenges involving appropriate interpretation of test results. Read More

Eur J Pharm Sci 2018 Mar 28;114:24-29. Epub 2017 Nov 28.

Department of Clinical Pharmacy and Toxicology, Leiden University Medical Center, Leiden, The Netherlands. Electronic address:

Background: Pharmaceutical compounding preparations, produced by (hospital) pharmacies, usually do not have marketing authorization. As a consequence, some of these pharmaceutical compounding preparations can be picked-up by a pharmaceutical company to obtain marketing authorization, often leading to price increases. An example is the 3,4-diaminopyridine slow release (3,4-DAP SR) tablets for Lambert-Eaton Myasthenic Syndrome (LEMS). Read More

J Clin Neuromuscul Dis 2017 Dec;19(2):84-88

Department of Neurology, McKnight Brain Institute, University of Florida College of Medicine, Gainesville, FL.

Objective: To characterize Lambert-Eaton myasthenic syndrome and limbic encephalitis with coexistent voltage-gated calcium channel (VGCC) antibody and γ-aminobutyric acid (GABA) B receptor antibody.

Methods: Case study.

Results: A 57-year-old man presented with 6 months of weakness, unsteadiness, and vision difficulties. Read More

J Clin Neuromuscul Dis 2017 Dec;19(2):66-75

Department of Neurology, University of Alabama at Birmingham, Birmingham, AL.

Objective: To reappraise the distinguishing features of the repetitive nerve stimulation (RNS) tests in the abductor digiti quinti muscle between myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS) 50 years after the 1965's Lambert seminal paper.

Methods: The various parameters of the RNS test were compared between 34 patients with LEMS and 140 patients with MG to assess their diagnostic sensitivity.

Results: RNS test was abnormal in all (100%) patients with LEMS and 76 (54%) patients with MG. Read More

Ann N Y Acad Sci 2018 Jan 10;1412(1):73-81. Epub 2017 Nov 10.

Department of Chemistry, University of Pittsburgh, Pittsburgh, Pennsylvania.

Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disorder caused by antibodies directed against the voltage-gated calcium channels that provide the calcium ion flux that triggers acetylcholine release at the neuromuscular junction. To study the pathophysiology of LEMS and test candidate therapeutic strategies, a passive-transfer animal model has been developed in mice, which can be created by daily intraperitoneal injections of LEMS patient serum or IgG into mice for 2-4 weeks. Results from studies of the mouse neuromuscular junction have revealed that each synapse has hundreds of transmitter release sites but that the probability for release at each one is likely to be low. Read More

Intern Med 2018 Feb 1;57(4):587-590. Epub 2017 Nov 1.

Department of Neurology, Osaka University Graduate School of Medicine, Japan.

Paraneoplastic cerebellar degeneration and Lambert-Eaton myasthenic syndrome (PCD-LEMS) are usually associated with small-cell lung carcinoma (SCLC). PCD-LEMS with extrapulmonary non-SCLC tumors; however, has not been previously reported. A 78-year-old man presented with dysarthria, dysphagia, staggering gait, and lower extremity muscle fatigue. Read More

Vaccine 2017 11 6;35(46):6290-6296. Epub 2017 Oct 6.

Department of Neurology, Leiden University Medical Centre, The Netherlands.

Objective: To investigate the humoral immune response to and safety of a tetanus revaccination in patients with myasthenia gravis or Lambert-Eaton myasthenic syndrome.

Methods: A tetanus revaccination was administered to 66 patients. Before and 4weeks after revaccination a blood sample and clinical outcome scores were obtained. Read More

Medicine (Baltimore) 2017 Sep;96(38):e7839

aIRCSS Centro Neurolesi "Bonino-Pulejo", Neuromuscular Disease Laboratory bDepartment of Clinical and Experimental Medicine, University of Messina, Messina cDIBIMIS, University of Palermo, Palermo, Italy.

Rationale: To report our experience on 7 patients (4 males and 3 females), affected by nonparaneoplastic Lambert-Eaton myasthenic syndrome, treated with 3,4-diaminopyridine phosphate (3,4-DAPP) either alone or in combination with other immunosuppressants or steroids.

Patient Concerns: Patients have been evaluated at specific timepoints (ie, baseline and last 5 year follow-up), with neurological examination, autoantibodies against presynaptic voltage-gated Cav2.1 (P/Q type) calcium ion channel (VGCC) dosage, neurophysiological evaluation focusing on the increased amplitude of the compound muscle action potential (cMAP) after maximum voluntary effort, quantitative myasthenia gravis (QMG) and activities of daily living scales, and autonomic nervous system involvement evaluation. Read More

Expert Opin Ther Targets 2017 10 24;21(10):949-958. Epub 2017 Aug 24.

a Division of Neurogenetics , Nagoya University Graduate School of Medicine , Nagoya , Japan.

Introduction: Signal transduction at the neuromuscular junction (NMJ) is compromised in a diverse array of diseases including myasthenia gravis, Lambert-Eaton myasthenic syndrome, Isaacs' syndrome, congenital myasthenic syndromes, Fukuyama-type congenital muscular dystrophy, amyotrophic lateral sclerosis, and sarcopenia. Except for sarcopenia, all are orphan diseases. In addition, the NMJ signal transduction is impaired by tetanus, botulinum, curare, α-bungarotoxin, conotoxins, organophosphate, sarin, VX, and soman to name a few. Read More

J Investig Med High Impact Case Rep 2017 Jul-Sep;5(3):2324709617721251. Epub 2017 Jul 14.

St. Francis Medical Center, Seton Hall University, Trenton, NJ, USA.

Lambert-Eaton myasthenic syndrome (LEMS) is a paraneoplastic neuromuscular junction disorder. LEMS presents with muscular weakness and fatigability, mainly involving the proximal lower limbs. There are 2 types of LEMS depending on the etiology: paraneoplastic and idiopathic. Read More

J Neurol 2017 Sep;264(9):1864

Fondazione IRCCS Istituto Neurologico, Via Giovanni Celoria, 11, 20133, Milan, Italy.

Noro Psikiyatr Ars 2017 Jun 19;54(2):189-190. Epub 2017 Jan 19.

Department of Neurology, İstanbul University İstanbul School of Medicine, İstanbul, Turkey.

Clin Ther 2017 Jul 19;39(7):1360-1370. Epub 2017 Jun 19.

Catalyst Pharmaceuticals Inc, Coral Gables, Florida, USA.

Purpose: The purpose of this study is to evaluate safety, tolerability, and pharmacokinetic (PK) properties of amifampridine phosphate (Firdapse™) and its major inactive 3-N-acetyl metabolite in renally impaired and healthy individuals with slow acetylator (SA) and rapid acetylator (RA) phenotypes.

Methods: This was a Phase I, multicenter, open-label study of the PK properties and safety profile of amifampridine phosphate in individuals with normal, mild, moderate, or severely impaired renal function. Amifampridine phosphate was given as a single 10 mg (base equivalent) dose, and the plasma and urine PK properties of amifampridine and its 3-N-acetyl metabolite were determined. Read More