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Pract Neurol 2020 Jun 28. Epub 2020 Jun 28.

Oxford Autoimmune Neurology Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK

Autoantibodies to leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein like-2 (CASPR2) are associated with clinically distinctive syndromes that are highly immunotherapy responsive, such as limbic encephalitis, faciobrachial dystonic seizures, Morvan's syndrome and neuromyotonia. These autoantibodies target surface-exposed domains of LGI1 or CASPR2, and appear to be directly pathogenic. In contrast, voltage-gated potassium channel (VGKC) antibodies that lack LGI1 or CASPR2 reactivities ('double-negative') are common in healthy controls and have no consistent associations with distinct syndromes. Read More

J Neurol 2020 Jun 26. Epub 2020 Jun 26.

Neurology Department, Reference Center for Lysosomal Diseases, Neurogenetics and Metabolism Unit, Hôpital Pitié-Salpêtrière, 47-83 boulevard de l'Hôpital, 75013, Paris, France.

Late-onset Niemann-Pick type C (NP-C) is a rare, underdiagnosed lysosomal disease with neurological manifestations. A specific treatment, miglustat, can stabilize the disease if given early. Recently, three plasma screening biomarkers (PSBs) were developed [cholestane3β,5α,6βtriol (C-triol), 7-ketocholesterol (7-KC), and lysosphingomyelin-509 (LSM-509)], allowing a simpler and quite robust screening of patients suitable for genetic testing. Read More

Front Neurol 2020 5;11:418. Epub 2020 Jun 5.

Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

The metabolic patterns of F-fluoro-2-deoxy--glucose positron emission tomography (F-FDG-PET) in autoimmune encephalitis associated with leucine-rich glioma-inactivated 1 antibody (LGI1 AE) are still unclear. We performed a cohort study to investigate the clinical metabolic characteristics and diagnostic value based on F-FDG-PET in patients with LGI1 AE. A total of 34 patients including 18 patients (53%) in the acute phase and 16 patients (47%) in the chronic phase who were diagnosed with LGI1 AE were retrospectively analyzed from October 2014 to June 2018 at the Department of Neurology in Beijing Tiantan Hospital, the Capital Medical University. Read More

Front Neurol 2020 19;11:498. Epub 2020 May 19.

Department of Neurology, China Medical University Hospital, Taichung, Taiwan.

Review and integrate the neurologic manifestations of the Coronavirus Disease 2019 (COVID-19) pandemic, to aid medical practitioners who are combating the newly derived infectious disease. We reviewed the clinical research, consisting of mainly case series, on reported neurologic manifestations of COVID-19. We also reviewed basic studies to understand the mechanism of these neurologic symptoms and signs. Read More

J Child Neurol 2020 Jun 22:883073820931970. Epub 2020 Jun 22.

Department of Electrical Engineering and Computer Science, University of California, Irvine, CA, USA.

Deep brain stimulation is an elective surgical intervention that improves the function and quality of life in children with dystonia and other movement disorders. Both basal ganglia and thalamic nuclei have been found to be relevant targets for treatment of dystonia in children, including the ventral intermediate nucleus of the thalamus, in which stimulation can control dystonic spasms. Electrophysiological confirmation of correct electrode location within the ventralis intermediate nucleus is thus important for the success of the surgical outcome. Read More

Parkinsonism Relat Disord 2020 Jun 8;76:32-41. Epub 2020 Jun 8.

Department of Neurology, Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL, USA.

Dystonic tremor (DT) is defined as the tremor in body parts affected by dystonia. Although deep brain stimulation (DBS) has been used to manage medically-refractory DT patients, its efficacy has not been well established. The objective of this study is to provide an up-to-date systematic review of DBS outcomes for DT patients. Read More

Brain Behav 2020 Jun 12:e01704. Epub 2020 Jun 12.

Department of Neurology, St. Josef-Hospital, Bochum, Germany.

Background: Motor phenotypes in Huntington's disease vary manifold. Phenotype classification is essential to adapt treatment. The aim of this study was to classify a dystonic subtype closer. Read More

Curr Opin Neurol 2020 Jun 8. Epub 2020 Jun 8.

Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health.

Purpose Of Review: The discovery of new disease-causing genes and availability of next-generation sequencing platforms have both progressed rapidly over the last few years. For the practicing neurologist, this presents an increasingly bewildering array both of potential diagnoses and of means to investigate them. We review the latest newly described genetic conditions associated with dystonia, and also address how the changing landscape of gene discovery and genetic testing can best be approached, from both a research and a clinical perspective. Read More

Curr Opin Neurol 2020 06 8. Epub 2020 Jun 8.

Center of Expertise for Parkinson & Movement Disorders, Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.

Purpose Of Review: We discuss the latest neuroimaging studies investigating the pathophysiology of Parkinson's tremor, essential tremor, dystonic tremor and Holmes tremor.

Recent Findings: Parkinson's tremor is associated with increased activity in the cerebello-thalamo-cortical circuit, with interindividual differences depending on the clinical dopamine response of the tremor. Although dopamine-resistant Parkinson's tremor arises from a larger contribution of the (dopamine-insensitive) cerebellum, dopamine-responsive tremor may be explained by thalamic dopamine depletion. Read More

Pract Neurol 2020 Jun 2. Epub 2020 Jun 2.

Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.

Dopamine receptor-blocking antipsychotics, first introduced into clinical practice in 1952, were hailed as a panacea in the treatment of a number of psychiatric disorders. However, within 5 years, this notion was to be shattered by the recognition of both acute and chronic drug-induced movement disorders which can accompany their administration. Tardive syndromes, denoting the delayed onset of movement disorders following administration of dopamine receptor-blocking (and also other) drugs, have diverse manifestations ranging from the classic oro-bucco-lingual dyskinesia, through dystonic craniocervical and trunk posturing, to abnormal breathing patterns. Read More

Neurology 2020 Jun 1;94(24):1093-1099. Epub 2020 Jun 1.

From the Department of Rehabilitation (J.N.), Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Centre of Expertise for Parkinson & Movement Disorders; Department of Rehabilitation (J.N.), Sint Maartenskliniek, Nijmegen, the Netherlands; Department of Neurology and Centre of Clinical Neuroscience (E.R., T.S.), First Faculty of Medicine and General University Hospital, Charles University, Prague, Czech Republic; Department of Neurology (S.G.R.), The University of Maryland School of Medicine, Baltimore, MD; Department of Neurology (B.R.B.), Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Centre of Expertise for Parkinson & Movement Disorders, Nijmegen, the Netherlands; andNational Institute of Neurological Disorders and Stroke (M.H.), Bethesda, MD.

Functional gait disorders are common in clinical practice. They are also usually disabling for affected individuals. The diagnosis is challenging because no single walking pattern is pathognomonic for a functional gait disorder. Read More

Pediatr Rev 2020 Jun;41(6):276-282

Division of Pediatric Surgery, Cohen Children's Medical Center, Zucker School of Medicine at Hofstra/Northwell, New Hyde Park, NY.

Neonates often have congenital lumps or sinuses. It is expected that pediatricians will distinguish those with important physiologic implications from those without. Accurate understanding of these lesions is important for the practitioner to avoid unnecessary tests and anxiety and to ensure that seemingly benign lesions with important implications are addressed in a timely manner. Read More

J Neuroimmunol 2020 Aug 23;345:577268. Epub 2020 May 23.

Neurology Department, Pontificia Universidad Católica de Chile, Santiago, Chile.

We report six patients with anti-LGI1 associated epilepsy. Two patients presented with new-onset generalized tonic-clonic seizures, four developed faciobrachial dystonic seizures and two piloerection. All patients had significant cognitive complaints at the time of diagnosis. Read More

Mov Disord Clin Pract 2020 Feb 8;7(2):228-229. Epub 2020 Jan 8.

Epilepsy Unit, Department of Human Neurosciences "Sapienza" University Rome Italy.

Glia 2020 May 23. Epub 2020 May 23.

Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.

Dystonin (Dst) is a causative gene for Dystonia musculorum (dt) mice, which is an inherited disorder exhibiting dystonia-like movement and ataxia with sensory degeneration. Dst is expressed in a variety of tissues, including the central nervous system and the peripheral nervous system (PNS), muscles, and skin. However, the Dst-expressing cell type(s) for dt phenotypes have not been well characterized. Read More

Brain 2020 Jun;143(6):1766-1779

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

Humans have a distinguishing ability for fine motor control that is subserved by a highly evolved cortico-motor neuronal network. The acquisition of a particular motor skill involves a long series of practice movements, trial and error, adjustment and refinement. At the cortical level, this acquisition begins in the parieto-temporal sensory regions and is subsequently consolidated and stratified in the premotor-motor cortex. Read More

Mov Disord 2020 May 11. Epub 2020 May 11.

Department of Neurology, Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Background: Paroxysmal kinesigenic dyskinesia is a spectrum of involuntary dyskinetic disorders with high clinical and genetic heterogeneity. Mutations in proline-rich transmembrane protein 2 have been identified as the major pathogenic factor.

Objectives: We analyzed 600 paroxysmal kinesigenic dyskinesia patients nationwide who were identified by the China Paroxysmal Dyskinesia Collaborative Group to summarize the clinical phenotypes and genetic features of paroxysmal kinesigenic dyskinesia in China and to provide new thoughts on diagnosis and therapy. Read More

Dev Med Child Neurol 2020 Aug 9;62(8):917-925. Epub 2020 May 9.

Complex Motor Disorders Service, Evelina London Children's Hospital, London, UK.

Aim: To establish the prevalence of dystonic pain in children and their response to deep brain stimulation (DBS).

Method: Dystonic pain was assessed in a cohort of 140 children, 71 males and 69 females, median age 11 years 11 months (range 3y-19y 1mo), undergoing DBS in our centre over a period of 10 years. The cohort was divided into aetiological dystonia groups: 1a, inherited; 1b, heredodegenerative; 2, acquired; and 3, idiopathic. Read More

Mov Disord Clin Pract 2020 May 26;7(4):448-452. Epub 2020 Mar 26.

Dystonia Clinic and Movement Disorders Unit Department of Neurology, Massachusetts General Hospital and Harvard Medical School Boston MA USA.

Background: X-linked dystonia parkinsonism (XDP) is a rare disorder characterized by adult-onset, progressive dystonia that, over time, is combined with or replaced by features of parkinsonism. Gait impairment is common.

Methods: Case series of 4 patients with a unique gait disorder. Read More

Gene 2020 Jul 25;749:144709. Epub 2020 Apr 25.

Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 10330, Thailand.

Background: Mutations in the ATP1A3 gene are known to be the cause of three distinct neurological syndromes including alternating hemiplegia of childhood (AHC), rapid-onset dystonia parkinsonism (RDP) and cerebellar ataxia, arefexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS). Recent studies have suggested the broader diversity of ATP1A3-related disorders. This study aimed to investigate the clinical spectrum in patients carrying causative mutations within the ATP1A3 gene. Read More

Parkinsonism Relat Disord 2020 May 20;74:50-56. Epub 2020 Apr 20.

Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

Introduction: A strategy based on targeted gene panel sequencing identifies possibly pathogenic variants in fewer than 20% of cases in early-onset and familial form of dystonia. By using Whole Exome Sequencing (WES), we aimed to identify the missing genetic causes in dystonic patients without diagnosis despite gene panel sequencing.

Material And Methods: WES was applied to DNA samples from 32 patients with early-onset or familial dystonia investigated by sequencing of a 127 movement disorders-associated gene panel. Read More

Hum Brain Mapp 2020 Apr 20. Epub 2020 Apr 20.

Department of Otolaryngology-Head and Neck Surgery, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.

The emerging view of dystonia is that of a large-scale functional network disorder, in which the communication is disrupted between sensorimotor cortical areas, basal ganglia, thalamus, and cerebellum. The structural underpinnings of functional alterations in dystonia are, however, poorly understood. Notably, it is unclear whether structural changes form a larger-scale dystonic network or rather remain focal to isolated brain regions, merely underlying their functional abnormalities. Read More

Neurogenetics 2020 Jul 18;21(3):179-186. Epub 2020 Apr 18.

Department of Medical Biology, Faculty of Medicine, Near East University, Nicosia, Cyprus.

Glutaric aciduria type I (GA1; OMIM #231670) is an autosomal recessively inherited and treatable disorder characterized by the accumulation and irregular excretion of glutaric acid due to a defect in the glutaryl-CoA dehydrogenase enzyme involved in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. Glutaryl-CoA dehydrogenase is encoded by the GCDH gene (OMIM #608801), and several mutations in this gene are known to result in GA1. GA1 usually presents in the first 18-36 months of life with mild or severe acute encephalopathy, movement disorders, and striatal degeneration. Read More

Appl Clin Genet 2020 30;13:71-81. Epub 2020 Mar 30.

Movement Disorders Clinic, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.

Alternating hemiplegia of childhood (AHC) is a rare neurological disorder affecting children with an onset before 18 months. Diagnostic clues include transient episodes of hemiplegia alternating in the laterality or quadriparesis, nystagmus and other paroxysmal attacks as tonic and dystonic spells. Epilepsy is also a common feature. Read More

World J Biol Psychiatry 2020 May 5:1-15. Epub 2020 May 5.

Department of Biochemistry, Nigerian Institute of Medical Research Yaba Lagos, Lagos, Nigeria.

Tardive dyskinesia (TD) unlike acute dystonia may be irreversible. This study investigated the effects of oral cannabidiol (CBD) on haloperidol-induced vacuous chewing movement (VCM) model of TD. There were six experimental groups with different combinations of oral cannabidiol with 5 mg/kg of haloperidol given orally. Read More

J Child Adolesc Psychopharmacol 2020 Apr 7. Epub 2020 Apr 7.

Department of Psychiatry, Northwell Health, The Zucker Hillside Hospital, Glen Oaks, New York.

To determine the incidence of acute dystonic reactions (ADRs) and risk factors for ADRs in children and adolescents treated with antipsychotics. This was a retrospective chart review-based cohort study of consecutive patients who attended a university hospital's child and adolescent psychiatry department between 2015 and 2017 and who were treated with antipsychotics and had at least two follow-up visits. Thirty of 441 patients (6. Read More

J Clin Sleep Med 2020 Apr 6. Epub 2020 Apr 6.

VA Greater Los Angeles Healthcare, Los Angeles, CA.

None: Abnormalities of the upper airway anatomy are an underrecognized cause of obstructive sleep apnea. We present a unique case of a 51-year-old man with episodic sleep-maintenance insomnia and oromandibular dystonia requiring botulinum toxin injections of the temporalis and masseter muscles. He underwent multiple sleep studies and was found to have obstructive sleep apnea temporally associated with the severity of dystonia symptoms and dosing of botulinum toxin. Read More

Medicine (Baltimore) 2020 Apr;99(14):e19572

Department of Orthorpaedics, PLA Army Genertal Hospital, Beijing.

The outcomes of surgical treatment for congenital muscular torticollis (CMT) are poor in many cases, primarily from surgeon's fear of damage to important blood vessels in the carotid sheath. The current research aimed to establish a novel, safer and more effective surgical approach for the treatment of CMT based on the anatomic relationship between the fascial sheath of the sternocleidomastoid muscle and the carotid sheath.A total of 12 formalin-fixed cadaveric specimens (including 9 males and 3 females with average age of 48. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Apr;37(4):455-458

Children's Hospital Affiliated to Zhengzhou University, Henan Provincial Key Laboratory of Children's Genetics and Metabolic Disease, Zhengzhou, Henan 450018, China.

Objective: To explore the clinical characteristics and genetic variants in a child with tyrosine hydroxylase-deficient infantile Parkinsonism with motor delay.

Methods: Clinical feature of the patient was summarized. Genomic DNA was extracted from peripheral blood samples taken from the child and her family members. Read More

Toxicon 2020 Apr 7;177:46-51. Epub 2020 Feb 7.

Department of Neurology, Neurorehabilitation Unit, Vivantes Klinikum Spandau, Neue Bergstrasse 6, 13585, Berlin, Germany; Neurology at Wittenbergplatz, Ansbacher Strasse 17-19, 10787, Berlin, Germany.

Botulinum toxin (BoNT) is well established in clinical practice for more than 30 years. During this time the area of applications was broaden beyond the ophtalmologic and neurologic indications. Despite of decades of BoNT application with a huge increase of expertise and supporting methods for utilization as well, both patients and physicians claim about boundaries and limits in their daily treatment practice. Read More

Clin Neurophysiol 2020 May 4;131(5):985-993. Epub 2020 Feb 4.

Human Motor Control Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA. Electronic address:

Objective: Writer's cramp (WC) is a focal task-specific dystonia characterized by abnormal posturing of the hand muscles during handwriting, but not during other tasks that involve the same set of muscles and objects such as sharpening a pencil. Our objective was to investigate the pathophysiology underlying the task specificity of this disorder using EEG. We hypothesized that premotor-parietal connectivity will be lower in WC patients specifically during handwriting and motor imagery of handwriting. Read More

Front Neurol 2020 20;11:61. Epub 2020 Feb 20.

Department of Emergency, Xiangya Hospital, Central South University, Changsha, China.

Limbic encephalitis (LE) with antibodies against leucine-rich glioma inactivated protein 1 (LGI1) is an autoimmune disease with variable clinical features, including seizures, cognitive disorders, psychiatric disturbances, and hyponatremia. The majority of these patients present faciobrachial dystonic seizures (FBDS), which are regarded as a characteristic symptom. A few cases have reported pilomotor seizures as the main manifestation of anti-LGI1 encephalitis. Read More

Neurology 2020 Mar 2;94(13):e1378-e1385. Epub 2020 Mar 2.

From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence "Déficiences Intellectuelles de Causes Rares" (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France.

Objective: To assess nonparoxysmal movement disorders in mutation-positive patients with alternating hemiplegia of childhood (AHC).

Methods: Twenty-eight patients underwent neurologic examination with particular focus on movement phenomenology by a specialist in movement disorders. Video recordings were reviewed by another movement disorders specialist and data were correlated with patients' characteristics. Read More

Neurol Neurochir Pol 2020 ;54(1):3-5

Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden.

Introduction: Kaczyńska et al. reported a family with myoclonus-dystonia (M-D) caused by a truncating SGCE mutation, in which two members had epilepsy. Further, patients had mild psychiatric and developmental deficits. Read More

Toxicon 2020 Mar 24;176:44-46. Epub 2020 Jan 24.

Professor Emeritus, UBC Movement Disorders Clinic, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address:

Botulinum toxin (BoNT) has become a therapeutic agent for a large variety of medical conditions. It is a symptomatic treatment and in most cases requires repeat injections at regular intervals. The first session is crucial in establishing rapport between the physician and the patient to ensure a continuity of treatment on a long term basis. Read More

Zhonghua Er Ke Za Zhi 2020 Feb;58(2):123-128

Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

To explore the clinical characteristics and genotyping results of childhood-onset myoclonus dystonia syndrome caused by SGCE variants. The clinical data of 9 children with SGCE-related myoclonus dystonia syndrome admitted at either the Department of Neurology, Beijing Children's Hospital, Capital Medical University or the Department of Pediatrics, Peking University First Hospital from May 2018 to October 2019 were collected and the patients were followed up. The definite diagnosis was made on the basis of whole exome sequencing and multiple ligation-dependent probe amplification. Read More

Cerebellum 2020 Jun;19(3):409-418

Departments of Neurology and Biomedical Engineering, Case Western Reserve University, Cleveland, OH, USA.

The relationship between two common movement disorders, dystonia and tremor, is controversial. Both deficits have correlates in the network that includes connections between the cerebellum and the basal ganglia. In order to assess the physiological relationship between tremor and dystonia, we measured the activity of 727 pallidal single-neurons during deep brain stimulation surgery in patients with cervical dystonia without head oscillations, cervical dystonia plus jerky oscillations, and cervical dystonia with sinusoidal oscillations. Read More

World J Clin Cases 2020 Jan;8(2):313-317

Department of Rehabilitation Medicine, Gyeongsang National University School of Medicine and Gyeongsang National University Hospital, Jinju 52727, Gyeongsangnam-do, South Korea.

Background: Dystonic gait (DG) is one of clinical symptoms associated with functional dystonia in the functional movement disorders (FMDs). Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. There is no report for DG in FMDs caused by an abnormal pattern in the ankle muscle recruitment strategy during gait. Read More

Epileptic Disord 2020 Feb;22(1):55-65

National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.

We examined the clinical, semiological, scalp EEG, and neuropsychological features of patients with "pure" neocortical temporal lobe epilepsy (NTLE) who were successfully treated by neocortical temporal resection sparing the mesial temporal structures. This retrospective study included 17 patients with lesional NTLE who satisfied the following criteria: presence of a discrete structural lesion in the lateral temporal lobe on preoperative MRI; lateral temporal resection sparing the mesial temporal structures; follow-up for at least two years after surgery; and favourable postoperative seizure outcome (Engel Class I). The study included 10 females and seven males, and the age at surgery ranged from 15 to 48 years (mean: 30. Read More

Rev Med Liege 2020 Feb;75(2):121-124

Groupe MoVeRe, Service de Neurologie, CHU Liège, Belgique.

Cervical dystonia is one of the most frequent form of focal dystonia. However, there's a great lack of awareness of this condition : a long delay to diagnosis is quite common and misdiagnosis is often seen. Nevertheless, this pathology is invalidating and improving diagnosis could have an impact on the treatment and the patient's quality of life. Read More

Parkinsonism Relat Disord 2020 02 28;71:49-50. Epub 2020 Jan 28.

Department of Neurology, University Medical Centre Ljubljana, Zaloška 2, 1000 Ljubljana, Slovenia. Electronic address:

Neurology 2020 02 3;94(7):326-328. Epub 2020 Feb 3.

From the Division of Neurology, Department of Pediatrics, Duke University Children's Hospital and Duke University School of Medicine, Durham, NC.

Childhood-onset dystonias are a heterogeneously diverse group. There exists a specific set of dystonias that respond profoundly well to low doses of l-dopa (dopa-responsive dystonia [DRD]). Classical DRD is caused by deficiency of GTP cyclohydrolase 1 or tyrosine hydroxylase, but other conditions can cause dystonias that are partially responsive to dopamine. Read More

Parkinsonism Relat Disord 2020 02 13;71:40-43. Epub 2020 Jan 13.

IRCCS, Neuromed, Italy; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.

Background: Acute peripheral trauma is a controversial risk factor for idiopathic dystonia.

Materials And Methods: We retrospectively analyzed data from the Italian Dystonia Registry regarding the occurrence of acute peripheral trauma severe enough to require medical attention in 1382 patients with adult-onset idiopathic dystonia and 200 patients with acquired adult-onset dystonia.

Results: Patients with idiopathic and acquired dystonia showed a similar burden of peripheral trauma in terms of the number of patients who experienced trauma (115/1382 vs. Read More

Acta Neurol Scand 2020 May 12;141(5):359-367. Epub 2020 Feb 12.

Department of Neurology, University Hospital (Inselspital) and University of Bern, Bern, Switzerland.

Focal Dystonia (FD) is a chronic neurological disorder, which causes twisting and repetitive movements and abnormal postures induced by involuntary sustained contractions of agonist and antagonist muscles. Based on the hypothesis that several dystonia-related brain regions, including cerebellum, are implicated in oculomotor disturbances (OCD), a number of studies investigated oculomotor function in patients with dystonia. However, conceptual clarity with respect to the used assessment tools and interpretation of the findings is lacking in the literature. Read More

Seizure 2020 Jan 2;76:22-27. Epub 2020 Jan 2.

Shandong Provincial Hospital Affiliated to Shandong University, Department of Neurology, No 324, Jingwu Road, Huaiyin Zone, Jinan City, Shandong Province, 250012, PR China. Electronic address:

Purpose: The purpose of this study was to characterize the spectrum of motor events in patients with acute anti-leucine-rich glioma-inactivated protein 1 (anti-LGI1) encephalitis through video-electroencephalogram (VEEG) recordings.

Method: We collected data retrospectively from 16 patients diagnosed with anti-LGI1 encephalitis who had completed VEEG recording during hospitalization.

Results: VEEG monitoring lasted a median of 11. Read More

Toxicon 2020 Mar 13;176:10-14. Epub 2020 Jan 13.

Department of Clinical Neurological Sciences, Western University, London, Canada. Electronic address:

The association between tremor and dystonia has been known for many decades. Dystonic tremor is seen in the body part affected with dystonia. Tremor and dystonia can also co-exist in different body parts. Read More

J Clin Neurosci 2020 Feb 17;72:31-38. Epub 2020 Jan 17.

Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Childrens Hospital, Ludwig-Maximilian-University of Munich, Germany; Comprehensive Epilepsy Center, Ludwig-Maximilian- University of Munich, Germany; Paracelsus Medical University Salzburg, Salzburg, Austria. Electronic address:

ATP1A3 related disease is a clinically heterogeneous condition currently classified as alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. Recently, it has become apparent that a remarkably large subgroup is suffering from often difficult-to-treat epilepsy. The aim of the present study was to assess the prevalence and efficacy of commonly used anti-epileptic-drugs (AEDs) in patients with ATP1A3 related seizures. Read More

Neurol Neurochir Pol 2020 20;54(1):33-38. Epub 2020 Jan 20.

Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.

Aim Of The Study: This paper describes six cases of patients with myoclonus-dystonia syndrome who are members of a family in which an SGCE gene mutation has been confirmed.

Clinical Rationale For The Study: Myoclonus-dystonia syndrome is a very rare disease, with an incidence in Europe of about 2 in every million. Due to the fact that only a few case reports of this illness are accessible in the literature, the material we collected seems to be valuable for clinical practice. Read More