المؤلفون: Lie Chen, Franziska Joncourt, D. Lang, Sabina Gallati, Jean-Marc Burgunder, X.W. Ran

المصدر: European neurology. 49(4)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, China, DNA Mutational Analysis, Hypokalemic Periodic Paralysis, Familial periodic paralysis, Bioinformatics, Polymerase Chain Reaction, Genetic determinism, Hypokalemic periodic paralysis, Internal medicine, CACNA1S gene, medicine, Humans, Polymorphism, Single-Stranded Conformational, Polymorphism, Genetic, business.industry, Incidence, Thyrotoxic periodic paralysis, Periodic paralysis, Middle Aged, medicine.disease, Molecular analysis, Endocrinology, Thyrotoxicosis, Neurology, Chromosomes, Human, Pair 1, Mutation, Female, Neurology (clinical), business

الوصف: Although sporadic thyrotoxic periodic paralysis (TPP) has a much higher prevalence in Asian than in all the other populations studied so far, it is also increasingly being seen at the emergency departments of the West, hence, it is vital to stress the importance of recognizing it. TPP shares some similarities with hypokalemic periodic paralysis (HOKPP). However, the pathophysiology of TPP and the reasons for this higher incidence are not known. We hypothesized that some mutations in the CACNA1S gene, which has been implicated in familial HOKPP, might play a role in TPP. We present 5 Chinese patients who suffer from TPP and demonstrate typical clinical features. No mutation was found on the whole CACNA1S gene. Therefore other molecular mechanisms will have to be examined in order to explain the different TPP incidences.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91ebc6837362ee450f644b2dde29222cTest
https://pubmed.ncbi.nlm.nih.gov/12736539Test

المؤلفون: Peter Höllinger, Jean-Marc Burgunder

المصدر: European neurology. 44(3)

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Shoulder, Movement disorders, Neurological disorder, Wounds, Nonpenetrating, Injections, Intramuscular, Shoulder Pain, otorhinolaryngologic diseases, medicine, Humans, Cervical dystonia, Botulinum Toxins, Type A, Dystonia, business.industry, Chronic pain, Focal dystonia, Middle Aged, medicine.disease, nervous system diseases, Surgery, medicine.anatomical_structure, Treatment Outcome, Neurology, Upper limb, Neurology (clinical), medicine.symptom, Shoulder Injuries, business, Complication, Follow-Up Studies

الوصف: Posttraumatic movement disorders remain a controversial issue with focal dystonia being a prominent representative. Focal dystonia of the shoulder without concomittant cervical dystonia is a rare event. We describe 2 patients who, after minor trauma, developed focal dystonia of the shoulder with severe chronic pain. Response to local botulinum toxin A was favorable in 1 patient.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7da5f4c30f214076a274aeb2a2cfb19bTest
https://pubmed.ncbi.nlm.nih.gov/11053963Test

المؤلفون: Johannes P. Wielepp, Joachim K. Krauss, Sabine Weber, Jean-Marc Burgunder, Thomas J. Loher

المصدر: European Neurology. 47:122-123

مصطلحات موضوعية: Male, medicine.medical_specialty, Deep brain stimulation, medicine.medical_treatment, Electric Stimulation Therapy, Neurological disorder, Neuropsychological Tests, Globus Pallidus, Motor symptoms, Physical medicine and rehabilitation, Alzheimer Disease, Activities of Daily Living, medicine, Humans, Dementia, Aged, Parkinsonism, Cognitive disorder, Parkinson Disease, medicine.disease, Electrodes, Implanted, Treatment Outcome, Neurology, Functional disability, Motor Skills, Neurology (clinical), Age of onset, Psychology, Neuroscience, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4588e5cb5e3b4824d3895de85816cd53Test
https://doi.org/10.1159/000047964Test

المؤلفون: Jiing-Feng Lirng, Dan-Ju Tso, Hans Bigalke, Patrizia Barozzi, Alfredo Orrico, Kon-Ping Lin, H. Weiss, Joachim K. Krauss, Patrizia Sola, Francesco Sicurelli, Johannes P. Wielepp, Antonio Federico, Lucia Galli, W.S. Wong, Luis Cortés, Hans-Christoph Diener, Wen-Chuin Hsu, Rika Kuriwaka, Alessandra Rufa, Jessica Mandrioli, Wen-Juh Hwang, Niall Quinn, Yoshihiko Nishida, R.F. Wagner, Jean-Marc Burgunder, Hong-Shiu Chang, Soichiro Fujiwara, Julio Pascual, Thomas J. Loher, Jesús Borbujo, Timothy J. Steiner, Maria Teresa Dotti, Wei-Jen Yao, Lok-Ming Tang, W. Müllges, Hsin-Chen Lee, Sabine Weber, G. Geraud, Hsiu-Chih Liu, A. Compagnon, A. Rossi, Rong-Kuo Lyu, V. Rastan, Avinoan Reches, Roberta Bedin, Alexander Münchau, A.C.F. Hui, Julián Benito-León, Shiaw-Pyng Wey, K.V. Toyka, Kailash P. Bhatia, Elisa Merelli, Toshio Matsumoto, Sien-Tsong Chen, Yih-Ru Wu, Dirk Dressler, Yi-Chung Lee, K.S. Wong, Takao Mitsui, Zin-An Wu, Gann Ting, Jan-Peter Jansen, Federica Casoni, Lie-Hang Shen, Daniela Pitei, Yau-Huei Wei

المصدر: European Neurology. 47:130-130

مصطلحات موضوعية: Neurology, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dfe7352a68867398f7eed7b7ca1d983dTest
https://doi.org/10.1159/000047969Test

المؤلفون: Otmar Meienberg, Jean-Marc Burgunder

المصدر: European neurology. 24(3)

مصطلحات موضوعية: Facial spasms, medicine.medical_specialty, Saccadic eye movement, Eye Movements, Eye disease, Facial Paralysis, Physical medicine and rehabilitation, Diplopia, Saccades, Medicine, Humans, Tetanus, business.industry, Cephalic tetanus, Middle Aged, medicine.disease, Surgery, stomatognathic diseases, Neurology, Female, Neurology (clinical), medicine.symptom, business, Brain Stem

الوصف: A 64-year-old woman presented with complaints about facial spasms, difficulty in opening her mouth and intermittent short episodes of horizontal diplopia. The diagnosis of a purely cephalic tetanus was made. While her eye movements appeared normal on clinical examination, infrared reflection oculography revealed a saccadic abnormality which could explain her diplopia. In view of today's pathophysiological concepts on tetanus an attempt is made to explain the eye movement disorder by disturbed inhibitory mechanisms in the brainstem.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e4c1058bdbcd50e3ab70230cd88c971Test
https://pubmed.ncbi.nlm.nih.gov/3996456Test