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Pediatr Neurol 2019 Feb 20. Epub 2019 Feb 20.

Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Drugs Context 2019 11;8:212576. Epub 2019 Mar 11.

Unit of Neurology, San Luca Hospital, Lucca, Italy.

Episodic ataxias (EAs) are characterized by recurrent, discrete episodes of vertigo and ataxia. EA1 and EA2 are the two most common forms. In the interictal interval, myokymia is typically present in EA1, whereas EA2 patients present with interictal nystagmus. Read More

Dev Med Child Neurol 2019 Feb 6. Epub 2019 Feb 6.

Paediatric Neurology, Birmingham Children's Hospital, Birmingham, UK.

Acquired neuromyotonia is a form of peripheral nerve hyperexcitability. In adults, pathogenic antibodies that target the extracellular domains of leucine-rich glioma-inactivated protein 1 (LGI1) and contactin-associated protein-like 2 (CASPR2) have been reported. We describe three paediatric patients with acquired neuromyotonia and CASPR2 and LGI1 serum antibodies. Read More

Funct Neurol 2018 Oct/Dec;33(4):194-199

Some patients with multiple sclerosis (MS) complain of symptoms, such as myokymia, myotonia, spasms, and stiffness, which have been demonstrated to be due to a concurrent non-dystrophic myotonia, i.e. myotonia congenita or paramyotonia congenita. Read More

Case Rep Neurol 2018 Sep-Dec;10(3):338-341. Epub 2018 Dec 4.

REHAB Basel, Clinic for Neurorehabilitation and Paraplegiology, Basel, Switzerland.

Hemangioblastomas represent 3% of all central nervous system (CNS) tumors. The majority of CNS hemangioblastomas are infratentorial, with the cerebellum being the most frequent location, while 13% are found in the brainstem. Symptoms of brainstem hemangioblastomas can be very subtle and might therefore be overlooked or misinterpreted. Read More

Neuropediatrics 2019 Apr 21;50(2):116-121. Epub 2018 Dec 21.

Research Unit UR12 SP24, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.

Myasthenia gravis (MG) with antibodies to the muscle-specific tyrosine kinase (MuSK-MG) receptor is a rare entity. It represents 5 to 8% of all MG patients. Few pediatric cases were reported. Read More

J Vet Intern Med 2019 Jan 3;33(1):287-291. 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

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

Neurology 2018 Oct;91(17):e1659

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

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

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

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

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.

Zhonghua Er Ke Za Zhi 2018 Jul;56(7):551-552

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

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

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

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

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

Neurology 2018 Feb;90(9):e814

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

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

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

J AAPOS 2018 02 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

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

J Neurol Sci 2017 07 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:

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

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

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

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

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

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

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

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

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

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