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[PMID]: 28968370
[Au] Autor:Sawlani K; Katirji B
[Ti] Title:Peripheral Nerve Hyperexcitability Syndromes.
[So] Source:Continuum (Minneap Minn);23(5, Peripheral Nerve and Motor Neuron Disorders):1437-1450, 2017 Oct.
[Is] ISSN:1538-6899
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PURPOSE OF REVIEW: This article provides a review of the clinical phenotypes and evaluation of peripheral nerve hyperexcitability syndromes. These rare diagnoses include cramp-fasciculation syndrome, Isaacs syndrome, and Morvan syndrome. Recent investigations have led to an understanding of the autoimmune underpinnings of these conditions and their specific associated antibodies. As the presentation of peripheral nerve hyperexcitability syndromes includes muscle stiffness, twitches, and spasms, which are also shared with certain central nervous system and myopathic conditions, the differential diagnosis of peripheral nerve hyperexcitability syndromes is reviewed. RECENT FINDINGS: Peripheral nerve hyperexcitability syndromes share clinical and electrodiagnostic evidence of motor nerve instability; however, their clinical presentations are varied. Case reviews have helped us understand the spectrum of symptoms associated with the three peripheral nerve hyperexcitability syndromes reviewed here: cramp-fasciculation syndrome, Isaacs syndrome, and Morvan syndrome. More recently, research has focused on understanding the voltage-gated potassium channel complex antibodies as well as neoplasms associated with these conditions. SUMMARY: The diagnosis of peripheral nerve hyperexcitability syndromes requires a high index of suspicion, support from the physical examination, familiarity with the spectrum of symptoms associated with peripheral nerve hyperexcitability syndromes, and recognition of diagnostic EMG features. Voltage-gated potassium channel complex antibodies are associated with these conditions. Optimum treatment and autoimmune pathogenesis remain areas of active research.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171002
[Lr] Last revision date:171002
[St] Status:In-Data-Review
[do] DOI:10.1212/CON.0000000000000520

  2 / 353 MEDLINE  
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[PMID]: 28825343
[Au] Autor:Ohno K; Ohkawara B; Ito M
[Ad] Address:a Division of Neurogenetics , Nagoya University Graduate School of Medicine , Nagoya , Japan.
[Ti] Title:Agrin-LRP4-MuSK signaling as a therapeutic target for myasthenia gravis and other neuromuscular disorders.
[So] Source:Expert Opin Ther Targets;21(10):949-958, 2017 Oct.
[Is] ISSN:1744-7631
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. Areas covered: This review covers the agrin-LRP4-MuSK signaling pathway, which drives clustering of acetylcholine receptors (AChRs) and ensures efficient signal transduction at the NMJ. We also address diseases caused by autoantibodies against the NMJ molecules and by germline mutations in genes encoding the NMJ molecules. Expert opinion: Representative small compounds to treat the defective NMJ signal transduction are cholinesterase inhibitors, which exert their effects by increasing the amount of acetylcholine at the synaptic space. Another possible therapeutic strategy to enhance the NMJ signal transduction is to increase the number of AChRs, but no currently available drug has this functionality.
[Mh] MeSH terms primary: Molecular Targeted Therapy
Myasthenia Gravis/drug therapy
Neuromuscular Diseases/drug therapy
[Mh] MeSH terms secundary: Agrin/metabolism
Animals
Cholinesterase Inhibitors/pharmacology
Drug Design
Germ-Line Mutation
Humans
LDL-Receptor Related Proteins/metabolism
Myasthenia Gravis/genetics
Myasthenia Gravis/physiopathology
Neuromuscular Diseases/genetics
Neuromuscular Diseases/physiopathology
Neuromuscular Junction/drug effects
Neuromuscular Junction/metabolism
Receptor Protein-Tyrosine Kinases/metabolism
Receptors, Cholinergic/metabolism
Signal Transduction/drug effects
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (Agrin); 0 (Cholinesterase Inhibitors); 0 (LDL-Receptor Related Proteins); 0 (LRP4 protein, human); 0 (Receptors, Cholinergic); EC 2.7.10.1 (MUSK protein, human); EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
[Em] Entry month:1709
[Cu] Class update date: 170922
[Lr] Last revision date:170922
[Js] Journal subset:IM
[Da] Date of entry for processing:170822
[St] Status:MEDLINE
[do] DOI:10.1080/14728222.2017.1369960

  3 / 353 MEDLINE  
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[PMID]: 28660750
[Au] Autor:Gonzalez Primomo SN; Blas L; Bertotti AC; Ameri C
[Ad] Address:Uroneurophysiology and Pelvic Floor Laboratory-German Hospital-C.A.B.A., Buenos Aires, Argentina.
[Ti] Title:Urinary manifestations in Isaacs's syndrome. Our experience in 8 cases.
[So] Source:Neurourol Urodyn;, 2017 Jun 29.
[Is] ISSN:1520-6777
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Isaacs's syndrome (IS), is a rare neurological disorder, characterized by sustained muscular activity, fasciculations, cramps, myokymia, excessive sweating, and occasional elevation of creatine phosphokinase (CPK) enzyme. AIM: To report our experience in patients with IS and urinary manifestations, describing clinical findings, test's results, and response to treatment. Methods An observational, retrospective analysis of patients with IS and urinary manifestations treated at German Hospital of Buenos Aires between 2001 and 2011 was done. Diagnosis was performed with clinical examination and electromyography (EMG) of external sphincter of the anus and/or urethra. Demographic, clinical, and treatment variables were analyzed. International Prognostic Scoring System (IPSS) at diagnosis and follow up was made. RESULTS: Eleven IS patients were recruited, of whom 8 (72.72%) were females with a mean age 47.87 years (DS ± 13.95) and presented associated lower tract urinary symptoms (LUTS). Six of them (75%) had voiding and 2 (25%) filling symptoms. Urodynamic and electromyographic findings reproduced symptomatology in all patients. Patients with voiding symptomatology were treated with combination of alpha-blockers with benzodiazepines; membrane stabilizings agents; antiepileptics; neurotropic; corticoids; posterior tibial nerve stimulation and botulinum toxin, achieving improvement in 4/6. The two patients with storage symptoms were treated in first instance with anticholinergic drugs, one of which did not respond completely was added oral pentosansulfate and electrical stimulation, reversing the symptomatology. Four patients had associated pathologies: Hashimoto's thyroiditis; Sjögren's syndrome; dysautonomia, and myasthenia gravis. CONCLUSIONS: In our experience, IS urinary manifestations are common and usually has a good evolution with adequate treatment for each patient.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170629
[Lr] Last revision date:170629
[St] Status:Publisher
[do] DOI:10.1002/nau.23336

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[PMID]: 28552871
[Au] Autor:Mizuno Y; Yamaguchi H; Uehara T; Yamashita K; Yamasaki R; Kira JI
[Ad] Address:Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University.
[Ti] Title:A case of stiff-person syndrome due to secondary adrenal insufficiency.
[So] Source:Rinsho Shinkeigaku;57(6):298-302, 2017 06 28.
[Is] ISSN:1882-0654
[Cp] Country of publication:Japan
[La] Language:jpn
[Ab] Abstract:We report a case of flexion contractures in a patient's legs secondary to postpartum hypopituitarism. A 56-year-old woman presented with a 3-year history of worsening flexion contractures of the hips and knees. On admission, her hips and knees could not be extended, and she had muscle stiffness and tenderness to palpation of the lower extremities. We first suspected stiff-person syndrome or Isaacs' syndrome because of her muscle stiffness. However, multiple hormones did not respond to stimulation tests, and an MRI of the brain showed atrophy of the pituitary gland with an empty sella. A subsequent interview revealed that she had suffered a severe hemorrhage while delivering her third child. She was diagnosed with panhypopituitarism and started on cortisol replacement therapy. After 1 week of treatment with hydrocortisone (10 mg/day), her symptoms quickly improved. We then added 75 µg/day of thyroid hormone. During the course of her treatment, autoantibodies against VGKC complex were found to be weakly positive. However, we considered the antibodies to be unrelated to her disease, because her symptoms improved markedly with low-dose steroid treatment. There are a few reports describing flexion contractures of the legs in patients with primary and secondary adrenal insufficiency. As these symptoms are similar to those seen in stiff-person syndrome, adrenal and pituitary insufficiency should be taken into account to achieve the correct diagnosis and treatment in patients with flexion contractures and muscle stiffness.
[Mh] MeSH terms primary: Hypopituitarism/diagnosis
Isaacs Syndrome/diagnosis
Stiff-Person Syndrome/diagnosis
[Mh] MeSH terms secundary: Atrophy
Autoantibodies/blood
Biomarkers/blood
Diagnosis, Differential
Drug Administration Schedule
Drug Therapy, Combination
Female
Humans
Hydrocortisone/administration & dosage
Hypopituitarism/diagnostic imaging
Hypopituitarism/drug therapy
Middle Aged
Pituitary Gland/pathology
Thyroid Hormones/administration & dosage
Thyroxine/administration & dosage
Treatment Outcome
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Autoantibodies); 0 (Biomarkers); 0 (Thyroid Hormones); Q51BO43MG4 (Thyroxine); WI4X0X7BPJ (Hydrocortisone)
[Em] Entry month:1709
[Cu] Class update date: 171012
[Lr] Last revision date:171012
[Js] Journal subset:IM
[Da] Date of entry for processing:170530
[St] Status:MEDLINE
[do] DOI:10.5692/clinicalneurol.cn-001008

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[PMID]: 28438465
[Au] Autor:Song J; Jing S; Quan C; Lu J; Qiao X; Qiao K; Lu J; Xi J; Zhao C
[Ad] Address:Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
[Ti] Title:Isaacs syndrome with CASPR2 antibody: A series of three cases.
[So] Source:J Clin Neurosci;41:63-66, 2017 Jul.
[Is] ISSN:1532-2653
[Cp] Country of publication:Scotland
[La] Language:eng
[Ab] Abstract:Isaacs syndrome is a form of peripheral nerve hyperexcitability, characterized by spontaneous muscle twitching and stiffness. Some patients are reported to be positive for CASPR2 antibody that may be one of the pathogenic autoantibodies in Isaacs syndrome. We reported a series of three patients with Isaacs syndrome, including their clinical features, electrophysiologic findings, laboratory parameters and therapeutic responses. All the three patients were positive for CASPR2 antibodies examined on transfected human embryonic kidney 293 cells by indirect immunofluorescence method. One patient had invasive thymoma. Symptomatic treatment was not sufficient for them, while immunotherapies including corticosteroids, double filtration plasmapheresis and rituximab provided favorable outcomes. The titers of CASPR2 antibody decreased after immune modulating therapy in parallel to clinical improvements in two patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1704
[Cu] Class update date: 170603
[Lr] Last revision date:170603
[St] Status:In-Process

  6 / 353 MEDLINE  
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[PMID]: 28241332
[Au] Autor:Shanahan LK; Raines SG; Coggins RL; Moore T; Carnes M; Griffin L
[Ti] Title:Osteopathic Manipulative Treatment in the Management of Isaacs Syndrome.
[So] Source:J Am Osteopath Assoc;117(3):194-198, 2017 Mar 01.
[Is] ISSN:1945-1997
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Isaacs syndrome is a rare neuromuscular disorder characterized by chronic muscle stiffness, cramping, fasciculations, myokymia, and hyperhidrosis. Pathogenesis includes autoimmunity, paraneoplastic disorders, genetic predisposition, or toxin exposure. There is no known cure for Isaacs syndrome. This case report describes a patient who had been given the diagnosis of Isaacs syndrome and received osteopathic manipulative treatment to manage fascial and cranial dysfunctions and reduce nervous system hyperexcitability. Long-term decrease of myokymia and reduction of severity and frequency of exacerbations resulted.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1702
[Cu] Class update date: 170227
[Lr] Last revision date:170227
[St] Status:In-Process
[do] DOI:10.7556/jaoa.2017.035

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[PMID]: 28235725
[Au] Autor:Santos MO; Swash M; de Carvalho M
[Ad] Address:Institute of Physiology Unit, Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Portugal; Department of Neurology, Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Portugal.
[Ti] Title:The generator site in acquired autoimmune neuromyotonia.
[So] Source:Clin Neurophysiol;128(4):643-646, 2017 Apr.
[Is] ISSN:1872-8952
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To investigate the origin of ectopic activity in neuromyotonia (NMT). METHODS: We studied two patients. In addition to routine studies, we tested synchronicity of spontaneous discharges in different motor units in simultaneous recordings made with two needle electrodes in the first dorsal interosseus muscle. Time-locked fasciculations in these double recordings would represent abnormal ectopic activity initiated in a nerve trunk with ephaptic stimulation of a nearby axon. In patient 1, this research protocol was applied once, 15years after regular intravenous immunoglobulin (IvIg) treatment. Patient 2 was investigated before and 1year after IvIg. RESULTS: Both patients improved after IVIg, mirrored by a striking decrease in the amount of spontaneous activity on electromyography. Moreover, our technique did not detect synchronous spontaneous activity (time-locked fasciculations) on the second assessment, although this was predominant before treatment in patient 2. CONCLUSIONS: In NMT, abnormal discharges originate both in distal axonal branches and in more proximal segments. It appears that IvIg is more effective in blocking antibody activity in proximal axonal segments, perhaps related to factors such as blood-nerve barrier, temperature or differing ion channel distributions. SIGNIFICANCE: Treatment effects can shed light on the origin of abnormal activity in NMT.
[Mh] MeSH terms primary: Autoimmune Diseases/physiopathology
Fasciculation
Isaacs Syndrome/physiopathology
Muscle, Skeletal/innervation
[Mh] MeSH terms secundary: Aged
Autoimmune Diseases/diagnosis
Autoimmune Diseases/therapy
Electromyography
Evoked Potentials, Motor
Humans
Immunoglobulins/administration & dosage
Immunoglobulins/therapeutic use
Isaacs Syndrome/diagnosis
Isaacs Syndrome/therapy
Male
Middle Aged
Muscle, Skeletal/physiopathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Immunoglobulins)
[Em] Entry month:1705
[Cu] Class update date: 170530
[Lr] Last revision date:170530
[Js] Journal subset:IM
[Da] Date of entry for processing:170226
[St] Status:MEDLINE

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[PMID]: 28007994
[Au] Autor:Peeters K; Chamova T; Tournev I; Jordanova A
[Ad] Address:Molecular Neurogenomics Group, Department of Molecular Genetics, VIB and University of Antwerp, Antwerpen 2610, Belgium.
[Ti] Title:Axonal neuropathy with neuromyotonia: there is a HINT.
[So] Source:Brain;140(4):868-877, 2017 Apr 01.
[Is] ISSN:1460-2156
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Recessive mutations in the gene encoding the histidine triad nucleotide binding protein 1 (HINT1) were recently shown to cause a motor-predominant Charcot-Marie-Tooth neuropathy. About 80% of the patients exhibit neuromyotonia, a striking clinical and electrophysiological hallmark that can help to distinguish this disease and to guide diagnostic screening. HINT1 neuropathy has worldwide distribution and is particularly prevalent in populations inhabiting central and south-eastern Europe. With 12 different mutations identified in more than 60 families, it ranks among the most common subtypes of axonal Charcot-Marie-Tooth neuropathy. This article provides an overview of the present knowledge on HINT1 neuropathy with the aim to increase awareness and spur interest among clinicians and researchers in the field. We propose diagnostic guidelines to recognize and differentiate this entity and suggest treatment strategies to manage common symptoms. As a recent player in the field of hereditary neuropathies, the role of HINT1 in peripheral nerves is unknown and the underlying disease mechanisms are unexplored. We provide a comprehensive overview of the structural and functional characteristics of the HINT1 protein that may guide further studies into the molecular aetiology and treatment strategies of this peculiar Charcot-Marie-Tooth subtype.
[Mh] MeSH terms primary: Charcot-Marie-Tooth Disease/genetics
Hereditary Sensory and Motor Neuropathy/genetics
Isaacs Syndrome/genetics
Myotonia/genetics
Nerve Tissue Proteins/genetics
Peripheral Nervous System Diseases/genetics
[Mh] MeSH terms secundary: Charcot-Marie-Tooth Disease/epidemiology
Charcot-Marie-Tooth Disease/pathology
Hereditary Sensory and Motor Neuropathy/epidemiology
Hereditary Sensory and Motor Neuropathy/pathology
Humans
Isaacs Syndrome/epidemiology
Isaacs Syndrome/pathology
Myotonia/epidemiology
Myotonia/pathology
Peripheral Nervous System Diseases/epidemiology
Peripheral Nervous System Diseases/pathology
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (HINT1 protein, human); 0 (Nerve Tissue Proteins)
[Em] Entry month:1704
[Cu] Class update date: 170425
[Lr] Last revision date:170425
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:161224
[St] Status:MEDLINE
[do] DOI:10.1093/brain/aww301

  9 / 353 MEDLINE  
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[PMID]: 27957617
[Au] Autor:Xiao F
[Ad] Address:Department of Neurology, Chongqing Key Laboratory of Neurology, The First Affiliated Hospital of Chongqing Medical University, 1st You Yi Road, Chongqing, 400016, China. feixiao81@126.com.
[Ti] Title:Neuromyotonia as an unusual neurological complication of primary Sjögren's syndrome: case report and literature review.
[So] Source:Clin Rheumatol;36(2):481-484, 2017 Feb.
[Is] ISSN:1434-9949
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Primary Sjögren's syndrome (PSS) is a systemic autoimmune disorder characterized by chronic inflammation of exocrine glands such as the lachrymal and salivary glands, leading to xerophthalmia and xerostomia. Neurological manifestations are sometimes found in patients with PSS. A variety of neurological complications has been reported in patients with PSS, and both the central nervous system (CNS) and peripheral nervous system (PNS) can be involved in PSS. Several forms of neuropathy, including polyneuropathy, cranial neuropathy, and multiple mononeuropathy, are often seen in PSS patients. Herein, we report for the first time typical neuromyotonia (NMT) symptoms appearing in a patient with PSS. Neuromyotonia is a rare disorder caused by the hyperexcitability of peripheral nerves, causing spontaneous and continuous muscle contraction. We provide an overview of the literature relating to neurological involvement in PSS, and the etiology of acquired NMT. We also discuss the existence of contactin-associated protein-like 2 (Caspr2) antibodies in NMT patients.
[Mh] MeSH terms primary: Cranial Nerve Diseases/diagnosis
Isaacs Syndrome/diagnosis
Peripheral Nervous System Diseases/diagnosis
Sjogren´s Syndrome/diagnosis
[Mh] MeSH terms secundary: Biopsy
Comorbidity
Cranial Nerve Diseases/complications
Female
Humans
Isaacs Syndrome/complications
Membrane Proteins/blood
Nerve Tissue Proteins/blood
Peripheral Nervous System Diseases/complications
Salivary Glands/physiopathology
Sjogren's Syndrome/complications
Young Adult
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (CNTNAP2 protein, human); 0 (Membrane Proteins); 0 (Nerve Tissue Proteins)
[Em] Entry month:1704
[Cu] Class update date: 171013
[Lr] Last revision date:171013
[Js] Journal subset:IM
[Da] Date of entry for processing:161214
[St] Status:MEDLINE
[do] DOI:10.1007/s10067-016-3499-z

  10 / 353 MEDLINE  
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[PMID]: 27509879
[Au] Autor:London F; Bancilhon JB; Tard C; Vermersch P; Hadhoum N
[Ad] Address:Department of Neurology, Hôpital Roger Salengro, CHRU Lille, Université de Lille, 1 rue Emile Laine, 59037, Lille Cedex, France. londonfrederic@gmail.com.
[Ti] Title:Isaacs' syndrome and Hodgkin lymphoma: a rare association.
[So] Source:Acta Neurol Belg;117(1):417-419, 2017 03.
[Is] ISSN:2240-2993
[Cp] Country of publication:Italy
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1608
[Cu] Class update date: 170702
[Lr] Last revision date:170702
[St] Status:In-Process
[do] DOI:10.1007/s13760-016-0688-0


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