643 results match your criteria Myokymia


Neuromyotonia in a horse.

J Vet Intern Med 2018 Dec 3. Epub 2018 Dec 3.

Department of Veterinary Clinical Sciences, School of Veterinary Medicine and Animal Sciences, Sao Paulo State University (Unesp), Botucatu, Sao Paulo, Brazil.

This article describes the clinical and electromyographic findings of neuromyotonia in a 19-month-old male crossbred Quarter Horse that presented with stiffness and muscle asymmetry in the hind limbs as well as sacrococcygeal, paravertebral, and gluteal myokymia. An electromyographic study showed spontaneous continuous muscle fiber activity with high-frequency discharges, fibrillations, positive sharp waves, fasciculation potentials, and complex repetitive discharges. Histological examination of the gluteal muscle showed a mixed neurogenic and myopathic pattern. Read More

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http://dx.doi.org/10.1111/jvim.15353DOI Listing
December 2018
2 Reads

Resection of a Petroclival Meningioma via the Endoscope-Assisted Retrosigmoid Approach: 2-D Operative Video.

J Neurol Surg B Skull Base 2018 Dec 1;79(Suppl 5):S395-S396. Epub 2018 Oct 1.

Department of Neurological Surgery, Eberhard-Karls University, University Hospital Tübingen, Tübingen, Germany.

We present a case of a petroclival meningioma that was resected through an endoscope-assisted retrosigmoid approach via corridors above and below the facial-vestibulocochlear nerve complex. The patient is a 61-year-old female with complaints of left-sided hypesthesia and neuralgia of the infraorbital and zygomatic region, intermittent periorbital myokymia, and a slight facial palsy (HB II). This 2D video demonstrates the operative technique, anatomical and surgical nuances of the skull base approach and microdissection of the tumor from the critical neurovascular structures. Read More

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http://dx.doi.org/10.1055/s-0038-1669984DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240343PMC
December 2018
1 Read

Teaching Video NeuroImages: Facial myokymia and myorhythmia in anti-IgLON5 disease: The bitten lip.

Neurology 2018 Oct;91(17):e1659

From the Department of Neurology, University Hospital Erlangen, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000006388DOI Listing
October 2018
9 Reads

Recurrent Superior Oblique Myokymia Treated by Distal Tendon Extirpation.

J Neuroophthalmol 2018 Oct 4. Epub 2018 Oct 4.

Beckman Vision Center, Program in Neuroscience, University of California, San Francisco, San Francisco, California.

Background: We describe successful surgical treatment of superior oblique myokymia, which had recurred after superior oblique tenectomy.

Methods: Single case report.

Results: The distal stump of the superior oblique tendon was extirpated by stripping it from the globe. Read More

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http://dx.doi.org/10.1097/WNO.0000000000000718DOI Listing
October 2018

Identification of a New Mutation Underlying Regressive Episodic Ataxia Type I.

Front Neurol 2018 25;9:587. Epub 2018 Jul 25.

Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.

Episodic ataxia type 1 (EA1), a -like K, is a consequence of genetic anomalies in the gene that lead to dysfunctions in the voltage-gated K channel Kv1. 1. Generally, mutations are inherited in an autosomal dominant manner. Read More

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http://dx.doi.org/10.3389/fneur.2018.00587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094999PMC
July 2018
7 Reads

Morvan's syndrome-is a pathogen behind the curtain?

Neurol Sci 2018 Nov 9;39(11):1965-1969. Epub 2018 Aug 9.

Department of Geriatric Medicine, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.

Morvan's syndrome is a rare syndrome of likely autoimmune etiology characterized by peripheral nerve hyperexcitability, dysautonomia, insomnia, and fluctuating delirium with prominent hallucinations. Since its first mention in 1890, less than 100 cases have been described in literature. The largest existing review includes details of 29 cases. Read More

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http://dx.doi.org/10.1007/s10072-018-3515-yDOI Listing
November 2018
23 Reads

Superior oblique myokymia.

Pract Neurol 2018 Oct 30;18(5):415-416. Epub 2018 Jul 30.

Department of Neurology, Referral Center for Autonomic Nervous System Disorders, University Hospital Center Zagreb, Zagreb, Croatia.

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http://dx.doi.org/10.1136/practneurol-2018-001967DOI Listing
October 2018
2 Reads

Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation.

J Parkinsons Dis 2018 ;8(3):399-403

Kufor-Rakeb syndrome (KRS)/PARK9 presents with autosomal recessive young onset Parkinson's disease (YOPD), spastic paraparesis, abnormal eye movements and facial myokymia. KRS is caused by homozygous/compound heterozygous inactivating mutations in ATP13A2. Two affected siblings (born to non-consanguineous Jewish parents) presenting a similar KRS phenotype (onset age 27, 23), carried compound heterozygous pathogenic variants in ATP13A2: c. Read More

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http://www.medra.org/servlet/aliasResolver?alias=iospress&am
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http://dx.doi.org/10.3233/JPD-181360DOI Listing
January 2018
7 Reads

Eyelid Myokymia with Concomitant Cerebral Tumour: A Case Report.

Neuroophthalmology 2018 Jun 9;42(3):150-152. Epub 2017 Aug 9.

Department of Oculoplastic, Orbital and Lacrimal Surgery, Aichi Medical University Hospital, Nagakute, Aichi, Japan.

Eyelid myokymia is a localised movement disorder of the orbicularis oculi muscle with involuntary, fine, continuous, and undulating contractions. Although this entity is thought to be peripheral nerve origin, it rarely occurs with an intracranial lesion. The authors report a case of eyelid myokymia with concomitant cerebral tumour. Read More

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http://dx.doi.org/10.1080/01658107.2017.1350195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5958955PMC
June 2018
10 Reads

A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.

Nephron 2018 23;139(4):359-366. Epub 2018 May 23.

Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.

Mutations in the KCNA1 gene encoding the voltage-gated potassium (K+) channel Kv1.1 have been linked to rare neurological syndromes, episodic ataxia type 1 (EA1) and myokymia. In 2009, a KCNA1 mutation was identified in a large family with autosomal dominant hypomagnesemia. Read More

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http://dx.doi.org/10.1159/000488954DOI Listing
May 2018
2 Reads

Mercury Toxicity Following Unauthorized Siddha Medicine Intake - A Mimicker of Acquired Neuromyotonia - Report of 32 Cases.

Ann Indian Acad Neurol 2018 Jan-Mar;21(1):49-56

Department of Neurology, PSGIMSR, Coimbatore, Tamil Nadu, India.

Context: Mercury is used extensively in the preparation of Siddha medicines, after purification. In this study, we present 32 patients of mercury toxicity following unauthorized Siddha medicine intake who mimicked neuromyotonia clinically. We analyzed the clinical features of these patients, the role of autoimmunity in etiopathology, and compared it with acquired neuromyotonia. Read More

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http://dx.doi.org/10.4103/aian.AIAN_274_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5909146PMC
May 2018
2 Reads

Diagnosis of primary hemifacial spasm.

Neurochirurgie 2018 May 16;64(2):82-86. Epub 2018 Apr 16.

Service de neurochirurgie, fondation ophtalmologique Adolphe-de-Rothschild, 75019 Paris, France.

The diagnosis of primary hemifacial spasm (pHFS), due to a benign compression of the facial motor nerve by a vessel, within or close to its root exit zone, is often made with delay. Misdiagnosis includes psychogenic spasm, tics, facial myokymia or blepharospasm, but in fact post-facial palsy synkinesis (post-paralytic HFS) is the closest clinical condition, because it is limited to the territory of the facial nerve of a single hemiface. The differential diagnosis between these two entities, whose pathophysiological mechanisms are very different, can be made by electroneuromyographic (ENMG) examination. Read More

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http://dx.doi.org/10.1016/j.neuchi.2017.12.003DOI Listing

Mystery Case: Superior oblique myokymia: An uncommon cause of intermittent diplopia.

Neurology 2018 Feb;90(9):e814

From the Department of Neurology, Maastricht University Medical Center, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000005028DOI Listing
February 2018

Thymoma-associated myasthenia gravis and LGI1-encephalitis, with nephrotic syndrome post-thymectomy.

J Neuroimmunol 2018 Apr 1;317:100-102. Epub 2018 Feb 1.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom. Electronic address:

Thymoma is associated with a wide spectrum of autoimmune paraneoplastic syndromes, though it is uncommon for multiple paraneoplastic syndromes to be present in a single individual. We report a rare case of an elderly gentleman who was found to have thymoma-associated myasthenia gravis and LGI1-encephalitis with myokymia, who presented with nephrotic syndrome (minimal change glomerulopathy) after thymectomy. The latter two paraneoplastic syndromes had manifested when prednisolone was tapered down to low dose. Read More

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http://dx.doi.org/10.1016/j.jneuroim.2018.01.011DOI Listing
April 2018
3 Reads

Superior Oblique Myokymia: Some Novel Observations.

Middle East Afr J Ophthalmol 2017 Jul-Sep;24(3):162-164

Department of Ophthalmology, Little Flower Hospital and Research Centre, Angamaly, Kerala, India.

Superior oblique myokymia is a rare condition, characterized by spontaneous rhythmic contractions of the superior oblique muscle and was first described by Duane in 1906. However, the pathophysiology of this condition remains poorly understood even today. A number of medical and surgical treatment modalities have been tried, with variable results. Read More

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http://dx.doi.org/10.4103/meajo.MEAJO_78_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5698993PMC
January 2018
5 Reads

Superior oblique myokymia treated with levobunolol.

J AAPOS 2018 Feb 20;22(1):67-69.e2. Epub 2017 Dec 20.

Department of Ophthalmology, Boston Children's Hospital; Department of Ophthalmology, Harvard Medical School. Electronic address:

Superior oblique myokymia (SOM) is an uncommon condition of unclear etiology that results in episodes of oscillopsia and diplopia. There is no established treatment protocol for SOM. We present 2 cases of SOM successfully managed with topical levobunolol 0. Read More

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http://dx.doi.org/10.1016/j.jaapos.2017.08.010DOI Listing
February 2018
2 Reads

Facial Myokymia and Hemifacial Spasm in Multiple Sclerosis: A Descriptive Study on Clinical Features and Treatment Outcomes.

Neurologist 2018 Jan;23(1):1-6

Department of Neurology, Mayo Clinic, Rochester, MN.

Objective: Facial Myokymia and hemifacial spasm have been associated with multiple sclerosis; however, their etiology and clinical outcome is uncertain. Here, we describe the clinical, radiologic features, and treatment outcomes of a cohort of patients with multiple sclerosis and history of facial myokymia or hemifacial spasm.

Methodology: We reviewed the clinical features, radiologic features, and treatment outcomes of 35 patients with a diagnosis of multiple sclerosis and facial myokymia (28) or hemifacial spasm (7) seen at Mayo Clinic (Rochester, MN). Read More

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http://dx.doi.org/10.1097/NRL.0000000000000163DOI Listing
January 2018
13 Reads

Cardinal features of superior oblique myokymia: An infrared oculography study.

Am J Ophthalmol Case Rep 2017 Sep 23;7:115-119. Epub 2017 Jun 23.

Department of Ophthalmology, Stanford University School of Medicine, Stanford, CA, USA.

Purpose: Superior oblique myokymia (SOM) is a rare eye movement disorder characterized by unilateral oscillopsia and binocular diplopia. Our study aimed to better understand SOM using infrared oculography.

Methods: We examined and recorded five patients with SOM. Read More

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http://dx.doi.org/10.1016/j.ajoc.2017.06.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722135PMC
September 2017
2 Reads

Multiple Sclerosis Presenting with Facial Twitching (Myokymia and Hemifacial Spasms).

Case Rep Neurol Med 2017 17;2017:7180560. Epub 2017 Sep 17.

Department of Emergency Medicine, Rowan University SOM, Stratford, NJ, USA.

Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system. The etiology is insufficiently understood. Autoimmune, genetic, viral, and environmental factors have been hypothesized. Read More

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http://dx.doi.org/10.1155/2017/7180560DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5623781PMC
September 2017
5 Reads

Superior oblique myokymia.

Surv Ophthalmol 2018 Jul - Aug;63(4):507-517. Epub 2017 Oct 19.

Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:

Superior oblique myokymia (SOM) is a rare condition of unclear etiology. We discuss the history, etiology, clinical features, differential diagnoses, management, and prognosis of SOM. We conducted a meta-analysis of all 116 cases published since SOM was first described in 1906. Read More

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http://dx.doi.org/10.1016/j.survophthal.2017.10.005DOI Listing
September 2018
17 Reads

Clinical and Oculographic Analysis of Inferior Oblique Myokymia.

J Neuroophthalmol 2017 12;37(4):418-420

Department of Neurology (J-YJ, S-YC, K-DC) and Ophthalmology (HJ), Pusan National University Hospital, Pusan National University School of Medicine and Biomedical Research Institute, Busan, Korea; and Department of Neurology (J-HC), Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea.

A 63-year-old man experienced transient vertical oscillopsia lasting several seconds for 2 months. Examination disclosed paroxysmal excyclotorsion of the right eye, spontaneously or triggered by adduction. Eye movements using 3D video-oculography showed intermittent, monocular phasic movements which consisted of excyclotorsion of the right eye mixed with a small amount of supraduction and abduction, and a tonic movement with excyclotorsion and slight elevation. Read More

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http://dx.doi.org/10.1097/WNO.0000000000000535DOI Listing
December 2017
26 Reads

Peripheral Nerve Hyperexcitability Syndromes.

Continuum (Minneap Minn) 2017 Oct;23(5, Peripheral Nerve and Motor Neuron Disorders):1437-1450

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. Read More

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http://Insights.ovid.com/crossref?an=00132979-201710000-0001
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http://dx.doi.org/10.1212/CON.0000000000000520DOI Listing
October 2017
47 Reads

Predictive Factors of Unfavorable Events After Gamma Knife Radiosurgery for Vestibular Schwannoma.

World Neurosurg 2017 Nov 5;107:175-184. Epub 2017 Aug 5.

Division of Stereotactic and Functional Neurosurgery, Department of Neurosurgery, Yonsei Gamma Knife Center, Yonsei University College of Medicine, Seoul, Korea. Electronic address:

Objective: Gamma Knife radiosurgery (GKS) for the treatment of vestibular schwannoma (VS) introduces risks to the facial nerve and auditory perception and may involve post-treatment complications such as pseudoprogression, hydrocephalus, and other cranial neuropathies. This study of patients with VS who underwent GKS investigated radiosurgical results, focusing on post-treatment complications and identifying the factors that predict such complications.

Methods: We undertook a retrospective review of all VS patients treated with the Perfexion Leksell Gamma Knife between November 2007 and October 2010 at our institution. Read More

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http://dx.doi.org/10.1016/j.wneu.2017.07.139DOI Listing
November 2017
7 Reads
2.420 Impact Factor

Botulinum Toxin Treatment in Multiple Sclerosis-a Review.

Curr Treat Options Neurol 2017 Aug 17;19(10):33. Epub 2017 Aug 17.

Yale University, New Haven, CT, 06520, USA.

Purpose of review The purpose of this review is to provide updated information on the role of botulinum neurotoxin (BoNT) therapy in multiple sclerosis (MS). This review aims to answer which symptoms of multiple sclerosis may be amenable to BoNT therapy. Recent findings We searched the literature on the efficacy of BoNTs for treatment of MS symptoms up to April 1st 2017 via the Yale University Library's search engine including but not limited to Pub Med and Ovis SP. Read More

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http://dx.doi.org/10.1007/s11940-017-0470-5DOI Listing
August 2017
12 Reads

Unilateral tongue myokymia - A rare topodiagnostic sign of different clinical conditions.

J Clin Neurosci 2017 Nov 29;45:132-133. Epub 2017 Jul 29.

Department of Neurology, Cantonal Hospital, St. Gallen, Switzerland; Department of Haematology and Oncology, Cantonal Hospital, St. Gallen, Switzerland.

Myokymia of the tongue is a very rare clinical condition and is much less common than facial or focal myokymia of the limbs. Radiation-induced delayed nerve damage is a well-known cause of myokymia, but other etiologies i.e. Read More

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http://dx.doi.org/10.1016/j.jocn.2017.07.013DOI Listing
November 2017
11 Reads

Hypoglossal myokymia presenting as paroxysmal dysarthria following head and neck radiotherapy.

J Neurol Neurosurg Psychiatry 2017 08;88(8):709

Neuro-Oncology Unit, Neurology Department, ICO Hospital Duran i Reynals-IDIBELL, Barcelona, Spain.

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http://dx.doi.org/10.1136/jnnp-2016-315487DOI Listing

A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.

Mol Cell Neurosci 2017 09 28;83:6-12. Epub 2017 Jun 28.

Department of Biomedical Sciences and Human Oncology, University of Bari Aldo Moro, Bari, Italy.

Episodic ataxia type 1 (EA1) is a human dominant neurological syndrome characterized by continuous myokymia, episodic attacks of ataxic gait and spastic contractions of skeletal muscles that can be triggered by emotional stress and fatigue. This rare disease is caused by missense mutations in the KCNA1 gene coding for the neuronal voltage gated potassium channel Kv1.1, which contributes to nerve cell excitability in the cerebellum, hippocampus, cortex and peripheral nervous system. Read More

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http://dx.doi.org/10.1016/j.mcn.2017.06.006DOI Listing
September 2017
17 Reads

Urinary manifestations in Isaacs's syndrome. Our experience in 8 cases.

Neurourol Urodyn 2018 Jan 29;37(1):496-500. Epub 2017 Jun 29.

Uroneurophysiology and Pelvic Floor Laboratory-German Hospital-C.A.B.A., Buenos Aires, Argentina.

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. Read More

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http://dx.doi.org/10.1002/nau.23336DOI Listing
January 2018
7 Reads

Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype.

Neurol Genet 2017 Jun 23;3(3):e156. Epub 2017 May 23.

Atta-ur Rahman School of Applied Biosciences (R.D., M.J.H.), National University of Sciences and Technology (NUST), Pakistan; Program in Genetics and Genome Biology (R.D., B.A.M.), Division of Neurology (B.A.M.), Department of Paediatrics, and The Centre for Applied Genomics, Genetics and Genome Biology (S.W., S.W.S.), The Hospital for Sick Children; Department of Molecular Genetics (S.W.S.), and McLaughlin Centre (S.W.S.), University of Toronto, Ontario, Canada; and Department of Pediatrics (M.D.A., R.A.A.), Division of Neurology, Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia.

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http://dx.doi.org/10.1212/NXG.0000000000000156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458666PMC
June 2017
15 Reads

Radiation-induced tongue myokymia with hypoglossal nerve damage, mimicker of motor neuron disease.

Clin Case Rep 2017 06 12;5(6):1056-1057. Epub 2017 May 12.

Department of Neurology Henry Ford Hospital Detroit Michigan.

This teaching case of tongue myokymia offers clear electromyographic findings of myokymic discharges on two different sweeps. Radiation-induced tongue myokymia should be considered in the differential diagnosis for motor neuron disease (MND). Read More

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http://dx.doi.org/10.1002/ccr3.965DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458021PMC
June 2017
11 Reads

Three dimensional video-oculography and thin-slice magnetic resonance imaging in a patient with superior oblique myokymia.

J Neurol Sci 2017 Jul 26;378:100-101. Epub 2017 Apr 26.

Department of Neurology, College of Medicine, Soonchunhyang University, Soonchunhyang University Bucheon Hospital, Bucheon, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.04.040DOI Listing
July 2017
7 Reads

Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study.

Parkinsonism Relat Disord 2017 Jul 20;40:73-75. Epub 2017 Apr 20.

Institute of Neurogenetics, University of Lübeck, Germany. Electronic address:

Objective: A clinical feature in patients with ADCY5 gene mutations are perioral muscle twitches initially described as facial myokymia.

Methods: Five patients with ADCY5-associated disease with facial twitches and truncal jerks underwent electrophysiological investigations of the orbicularis oris and trapezius muscles to delineate neurophysiological characteristics of these phenomena.

Results: Electromyography (EMG) recordings showed a complex electrophysiological pattern with brief bursts of less than 100 ms and longer bursts with a duration of 100-300 ms up to several seconds in keeping with myoclonus and chorea, respectively, as key findings. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2017.04.013DOI Listing
July 2017
8 Reads

Spastic paretic hemifacial contracture as a presenting feature of multiple sclerosis.

Mult Scler Relat Disord 2017 Apr 24;13:112-115. Epub 2017 Feb 24.

1st Department of Neurology, Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.

Background: Spastic paretic hemifacial contracture (SPHC) is characterized by sustained unilateral contraction of the facial muscles associated with mild ipsilateral facial paresis. Rarely described in the context of multiple sclerosis (MS), it has never been reported as presenting symptom of MS.

Case Reports: Two patients developed SPHC within the context of a clinically isolated syndrome suggestive of MS. Read More

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http://dx.doi.org/10.1016/j.msard.2017.02.017DOI Listing
April 2017
3 Reads

Afterdischarges following M waves in patients with voltage-gated potassium channels antibodies.

Clin Neurophysiol Pract 2017 6;2:72-75. Epub 2017 Mar 6.

Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.

Objective: To explore the correlation between afterdischarges in motor nerve conduction studies and clinical motor hyperexcitability in patients with voltage-gated potassium channels (VGKC) antibodies.

Methods: Six patients with positive serum antibodies to contactin-associated protein-like 2 (CASPR2) or/and leucine-rich glioma-inactivated protein 1 (LGI1) were recruited, including 5 with autoimmune encephalitis, and 1 with cramp-fasciculation syndrome. Electromyography (EMG), nerve conduction studies (NCS) and F waves were performed, and afterdischarges were assessed. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S2467981X173000
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http://dx.doi.org/10.1016/j.cnp.2017.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123875PMC
March 2017
1 Read

Intermittent facial spasms as the presenting sign of a recurrent pleomorphic adenoma.

World J Clin Oncol 2017 Feb;8(1):86-90

Rosalie A Machado, Sami P Moubayed, Mark L Urken, Thyroid, Head and Neck Cancer Foundation, New York, NY 10003, United States.

The intimate anatomical relationship of the facial nerve to the parotid parenchyma has a significant influence on the presenting signs and symptoms, diagnosis and treatment of parotid neoplasms. However, to our knowledge, hyperactivity of this nerve, presenting as facial spasm, has never been described as the presenting sign or symptom of a parotid malignancy. We report a case of carcinoma arising in a recurrent pleomorphic adenoma of the left parotid gland (. Read More

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http://dx.doi.org/10.5306/wjco.v8.i1.86DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5309717PMC
February 2017
19 Reads

Osteopathic Manipulative Treatment in the Management of Isaacs Syndrome.

J Am Osteopath Assoc 2017 Mar;117(3):194-198

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. Read More

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http://dx.doi.org/10.7556/jaoa.2017.035DOI Listing

Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing.

Sci Rep 2017 02 20;7:41095. Epub 2017 Feb 20.

Department of Molecular Physiology &Biophysics, Vanderbilt University School of Medicine, Nashville, TN 37232, United States.

Adenosine-to-inosine RNA editing in transcripts encoding the voltage-gated potassium channel Kv1.1 converts an isoleucine to valine codon for amino acid 400, speeding channel recovery from inactivation. Numerous Kv1. Read More

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http://www.nature.com/articles/srep41095
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http://dx.doi.org/10.1038/srep41095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5316942PMC
February 2017
4 Reads

Kv1.1 channelopathy abolishes presynaptic spike width modulation by subthreshold somatic depolarization.

Proc Natl Acad Sci U S A 2017 02 13;114(9):2395-2400. Epub 2017 Feb 13.

Institute of Neurology, University College London, London WC1N 3BG, United Kingdom;

Although action potentials propagate along axons in an all-or-none manner, subthreshold membrane potential fluctuations at the soma affect neurotransmitter release from synaptic boutons. An important mechanism underlying analog-digital modulation is depolarization-mediated inactivation of presynaptic Kv1-family potassium channels, leading to action potential broadening and increased calcium influx. Previous studies have relied heavily on recordings from blebs formed after axon transection, which may exaggerate the passive propagation of somatic depolarization. Read More

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http://www.pnas.org/lookup/doi/10.1073/pnas.1608763114
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http://dx.doi.org/10.1073/pnas.1608763114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5338558PMC
February 2017
11 Reads

Continuous hemifacial myokymia as the revealing symptom of demyelinating disease of the CNS.

Mult Scler Relat Disord 2017 Jan 9;11:10-11. Epub 2016 Nov 9.

Department of Neurology, Roger Salengro Hospital, CHRU Lille, University of Lille, 59037 Lille, France; Univ. Lille, INSERM U1171, CHRU Lille, 59000 Lille, France. Electronic address:

Facial myokymia (FM) is an uncommon involuntary movement, disorder of the musculature supplied by the facial nerve and, characterized by spontaneous undulating, vermicular movements beneath the, skin. It has rarely been described as a form of presentation of multiple, sclerosis. We describe a 31-year-old man presenting with continuous, unilateral facial myokymia as the revealing symptom of a demyelinating, disorder of central nervous system. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22110348163019
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http://dx.doi.org/10.1016/j.msard.2016.11.001DOI Listing
January 2017
4 Reads

Fatal Morvan Syndrome Associated With Myasthenia Gravis.

Neurologist 2017 Jan;22(1):29-33

Departments of *Neurology †Neuropathology ‡Neuro-Imaging and Interventional Radiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.

Introduction: Morvan syndrome is a rare and complex autoimmune disorder affecting multiple sites of neuraxis.

Case Report: We present fulminant Morvan syndrome, developing on a background of chronic myasthenia gravis. A 54-year-old gentleman presented with fluctuating ophthalmoplegia and proximal muscles weakness of 7 years duration that remitted with pyridostigmine and prednisolone. Read More

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http://dx.doi.org/10.1097/NRL.0000000000000097DOI Listing
January 2017
9 Reads

Morvan's syndrome with anti contactin associated protein like 2 - voltage gated potassium channel antibody presenting with syndrome of inappropriate antidiuretic hormone secretion.

J Neurosci Rural Pract 2016 Oct-Dec;7(4):577-579

Department of Neurology, Sawai ManSingh Medical College, Jaipur, Rajasthan, India.

Morvan's syndrome is a rare autoimmune disorder characterized by triad of peripheral nerve hyperexcitability, autonomic dysfunction, and central nervous system symptoms. Antibodies against contactin-associated protein-like 2 (CASPR2), a subtype of voltage-gated potassium channel (VGKC) complex, are found in a significant proportion of patients with Morvan's syndrome and are thought to play a key role in peripheral as well as central clinical manifestations. We report a patient of Morvan's syndrome with positive CASPR2-anti-VGKC antibody having syndrome of inappropriate antidiuretic hormone as a cause of persistent hyponatremia. Read More

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http://dx.doi.org/10.4103/0976-3147.188638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006472PMC
October 2016
11 Reads

Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia.

Mov Disord 2016 11 1;31(11):1743-1748. Epub 2016 Aug 1.

Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain.

Background: Episodic ataxia type 1 is a rare autosomal dominant neurological disorder caused by mutations in the KCNA1 gene that encodes the α subunit of voltage-gated potassium channel Kv1.1. The functional consequences of identified mutations on channel function do not fully correlate with the clinical phenotype of patients. Read More

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http://dx.doi.org/10.1002/mds.26737DOI Listing
November 2016
2 Reads

Characterization of a Subtype of Autoimmune Encephalitis With Anti-Contactin-Associated Protein-like 2 Antibodies in the Cerebrospinal Fluid, Prominent Limbic Symptoms, and Seizures.

JAMA Neurol 2016 09;73(9):1115-24

Centre National de Référence pour les Syndromes Neurologiques Paranéoplasiques, Hôpital Neurologique, Hospices Civils de Lyon, Lyon, France.2Institut NeuroMyoGene, INSERM 1217/CNRS 5310, Université de Lyon, Lyon, France.3Université Claude-Bernard Lyon 1, Université de Lyon, Lyon, France.

Importance: Autoantibodies against contactin-associated protein-like 2 (CASPR2) are observed in several neurological syndromes, including neuromyotonia (NMT), Morvan syndrome (MoS), and limbic encephalitis.

Objective: To characterize the clinical and biological presentations of patients with anti-CASPR2 antibodies in the cerebrospinal fluid (CSF).

Design, Setting, And Participants: We conducted a retrospective cohort analysis of 18 patients who had anti-CASPR2 antibodies in their CSF between March 2009 and November 2015 at the Centre National de Référence pour les Syndromes Neurologiques Paranéoplasiques in Lyon, France. Read More

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http://dx.doi.org/10.1001/jamaneurol.2016.1585DOI Listing
September 2016
46 Reads

Classification of involuntary movements in dogs: Tremors and twitches.

Vet J 2016 Aug 19;214:109-16. Epub 2016 May 19.

Davies Veterinary Specialists, Manor Farm Business Park, Higham Gobion, Hitchin SG5 3HR, UK.

This review focuses on important new findings in the field of involuntary movements (IM) in dogs and illustrates the importance of developing a clear classification tool for diagnosing tremor and twitches. Developments over the last decade have changed our understanding of IM and highlight several caveats in the current tremor classification. Given the ambiguous association between tremor phenomenology and tremor aetiology, a more cautious definition of tremors based on clinical assessment is required. Read More

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http://dx.doi.org/10.1016/j.tvjl.2016.05.011DOI Listing
August 2016
4 Reads

Action potential broadening in a presynaptic channelopathy.

Nat Commun 2016 07 6;7:12102. Epub 2016 Jul 6.

UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.

Brain development and interictal function are unaffected in many paroxysmal neurological channelopathies, possibly explained by homoeostatic plasticity of synaptic transmission. Episodic ataxia type 1 is caused by missense mutations of the potassium channel Kv1.1, which is abundantly expressed in the terminals of cerebellar basket cells. Read More

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http://dx.doi.org/10.1038/ncomms12102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4935806PMC
July 2016
15 Reads

The clinical spectrum of Caspr2 antibody-associated disease.

Neurology 2016 Aug 1;87(5):521-8. Epub 2016 Jul 1.

From the Departments of Neurology (A.v.S., P.A.E.S.S., M.J.T.) and Immunology (M.W.J.S.), Erasmus University Medical Center, Rotterdam; Department of Neurology (A.v.S., P.W.W.), Haga Teaching Hospital, the Hague, the Netherlands; Department of Neurology (H.A., F.G.), Hospital Clinic, University of Barcelona; Neuroimmunology Program (H.A., M.P.-P., F.G.) and Department of Neurology, Hospital Clinic (J.D.), Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Neuroimmunology (F.L.), Institute of Clinical Chemistry, Christian-Albrechts-University; Department of Neurology (F.L.), University Hospital Schleswig-Holstein, Kiel; Department of Neurology (P.K.), University Hospital Magdeburg; Neuroimmunology (K.-P.W), Institute of Clinical Chemistry, University Medical Center Schleswig-Holstein Campus Lübeck; Department of Neurology (K.-P.W), University of Lübeck, Germany; Department of Neurology (E.L.), University of Pennsylvania (J.D.), Philadelphia; and Department of Neurology (J.D.), Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.

Objective: To report a large cohort of patients with antibodies against contactin-associated protein-like 2 (Caspr2) and provide the clinical spectrum of this disorder.

Methods: Serum and CSF samples were assessed at 2 neuroimmunology centers in Barcelona and Rotterdam. Patients were included if Caspr2 antibodies were confirmed with 2 independent techniques, including brain immunohistochemistry and cell-based assay. Read More

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http://dx.doi.org/10.1212/WNL.0000000000002917DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970662PMC
August 2016
14 Reads

Tongue myokymia presenting twelve years after radiation therapy.

Clin Neurophysiol Pract 2016 23;1:41-42. Epub 2016 Jun 23.

Tepecik Education and Research Hospital, Department of Neurology, Izmir, Turkey.

Objective: This case is a patient with tongue myokymia following radiation therapy 12 years earlier, documented using video and EMG.

Case Report: A 68-year-old woman with a history of nasopharyngeal carcinoma presented with subacute onset of difficulty in speaking and involuntary movements of her tongue approximately 12 years after radiation therapy to head and neck. Electromyography displayed myokymic discharges. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S2467981X163000
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http://dx.doi.org/10.1016/j.cnp.2016.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123896PMC
June 2016
3 Reads