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Cureus Aug 2022Topiramate (TPM) is a sulfonamide drug with multiple modes of action. It inhibits carbonic anhydrase, blocks sodium channels, enhances potassium channels, and stimulates... (Review)
Review
Topiramate (TPM) is a sulfonamide drug with multiple modes of action. It inhibits carbonic anhydrase, blocks sodium channels, enhances potassium channels, and stimulates postsynaptic gamma-aminobutyric acid (GABA) receptors. Pharmacists Joe Gardocki and Bruce Maryanoff synthesized TPM for the first time in 1979. The FDA did not approve it for medical use in the US until 1996. Around 2004, it was authorized for the prevention of migraine headaches. TPM, like any medication, has several side effects. Common aftermaths include weight loss, diarrhea, dizziness, sleepiness, fatigue, and coordination issues. Some people may experience mental health issues like memory problems, confusion, and speech or language difficulties. The most well-known ocular side effects of TPM are choroidal effusion syndrome, angle-closure glaucoma, and myopic shift. Aside from these, other ophthalmic adverse effects may arise in some people, including retinal problems, uveitis, visual field defects, myokymia, and neuro-ophthalmology complications. If such complications are not identified and treated promptly, they can be severe and vision-threatening, potentially leading to permanent blindness. TPM's application as a standalone and adjunctive therapy has increased over time. In 2019, more than 10 million prescriptions of TPM were issued. Due to its extensive use, medical professionals and patients must be aware of its potential repercussions, especially ophthalmic issues. The current review paper likewise makes a step in this direction. This article's primary purpose is to educate readers by providing a comprehensive assessment of the research on TPM's ocular side effects. All the information has been collected via a thorough search of the Google Search Engine and PubMed.
PubMed: 36059357
DOI: 10.7759/cureus.28513 -
Neurology Oct 2021Anti-IgLON5 disease is a recently described neurologic disease that shares features of autoimmunity and neurodegeneration. Abnormal movements appear to be frequent and...
BACKGROUND AND OBJECTIVES
Anti-IgLON5 disease is a recently described neurologic disease that shares features of autoimmunity and neurodegeneration. Abnormal movements appear to be frequent and important but have not been characterized and are underreported. We describe the frequency and types of movement disorders in a series of consecutive patients with this disease.
METHODS
In this retrospective, observational study, the presence and phenomenology of movement disorders were assessed with a standardized clinical questionnaire. Available videos were centrally reviewed by 3 experts in movement disorders.
RESULTS
Seventy-two patients were included. In 41 (57%), the main reason for initial consultation was difficulty walking along with one or several concurrent movement disorders. At the time of anti-IgLON5 diagnosis, 63 (87%) patients had at least 1 movement disorder with a median of 3 per patient. The most frequent abnormal movements were gait and balance disturbances (52 patients [72%]), chorea (24 [33%]), bradykinesia (20 [28%]), dystonia (19 [26%]), abnormal body postures or rigidity (18 [25%]), and tremor (15 [21%]). Other hyperkinetic movements (myoclonus, akathisia, myorhythmia, myokymia, or abdominal dyskinesias) occurred in 26 (36%) patients. The craniofacial region was one of the most frequently affected by multiple concurrent movement disorders (23 patients [32%]) including dystonia (13), myorhythmia (6), chorea (4), or myokymia (4). Considering any body region, the most frequent combination of multiple movement disorders consisted of gait instability or ataxia associated with craniofacial dyskinesias or generalized chorea observed in 31 (43%) patients. In addition to abnormal movements, 87% of patients had sleep alterations, 74% bulbar dysfunction, and 53% cognitive impairment. Fifty-five (76%) patients were treated with immunotherapy, resulting in important and sustained improvement of the movement disorders in only 7 (13%) cases.
DISCUSSION
Movement disorders are a frequent and leading cause of initial neurologic consultation in patients with anti-IgLON5 disease. Although multiple types of abnormal movements can occur, the most prevalent are disorders of gait, generalized chorea, and dystonia and other dyskinesias that frequently affect craniofacial muscles. Overall, anti-IgLON5 disease should be considered in patients with multiple movement disorders, particularly if they occur in association with sleep alterations, bulbar dysfunction, or cognitive impairment.
PubMed: 34380749
DOI: 10.1212/WNL.0000000000012639 -
Journal of Veterinary Internal Medicine 2023KCNJ10 and CAPN1 variants cause "spinocerebellar" ataxia in dogs, but their association with generalized myokymia and neuromyotonia remains unclear.
BACKGROUND
KCNJ10 and CAPN1 variants cause "spinocerebellar" ataxia in dogs, but their association with generalized myokymia and neuromyotonia remains unclear.
OBJECTIVE
To investigate the association between KCNJ10 and CAPN1 and myokymia or neuromyotonia, with or without concurrent spinocerebellar ataxia.
ANIMALS
Thirty-three client-owned dogs with spinocerebellar ataxia, myokymia neuromytonia, or a combination of these signs.
METHODS
Genetic analysis of a cohort of dogs clinically diagnosed with spinocerebellar ataxia, myokymia or neuromyotonia. KCNJ10 c.627C>G and CAPN1 c.344G>A variants and the coding sequence of KCNA1, KCNA2, KCNA6, KCNJ10 and HINT1 were sequenced using DNA extracted from blood samples.
RESULTS
Twenty-four Jack Russell terriers, 1 Jack Russell terrier cross, 1 Dachshund and 1 mixed breed with spinocerebellar ataxia were biallelic (homozygous) for the KCNJ10 c.627C>G variant. Twenty-one of those dogs had myokymia, neuromyotonia, or both. One Parson Russell terrier with spinocerebellar ataxia alone was biallelic for the CAPN1 c.344G>A variant. Neither variant was found in 1 Jack Russell terrier with ataxia alone, nor in 3 Jack Russell terriers and 1 Yorkshire terrier with myokymia and neuromyotonia alone. No other causal variants were found in the coding sequence of the investigated candidate genes in these latter 5 dogs.
CONCLUSION
The KCNJ10 c.627C>G variant, or rarely the CAPN1 c.344G>A variant, was confirmed to be the causal variant of spinocerebellar ataxia. We also report the presence of the KCNJ10 c.627C>G variant in the Dachshund breed. In dogs with myokymia and neuromyotonia alone the reported gene variants were not found. Other genetic or immune-mediated causes should be investigated to explain the clinical signs of these cases.
Topics: Humans; Dogs; Animals; Myokymia; Isaacs Syndrome; Spinocerebellar Ataxias; Ataxia; Breeding; Nerve Tissue Proteins; Kv1.6 Potassium Channel; Dog Diseases
PubMed: 37905444
DOI: 10.1111/jvim.16892 -
Brain Circulation 2020Neurocysticercosis (NCC) is a specific form of cysticercosis that affects the central nervous system. It is caused by the tapeworm , which is often found in pigs. NCC is... (Review)
Review
Neurocysticercosis (NCC) is a specific form of cysticercosis that affects the central nervous system. It is caused by the tapeworm , which is often found in pigs. NCC is considered one of the "great simulator/mimickers" of other diseases. In this context, movement disorders (MDs) can occur in a small percentage of individuals with NCC. This review aims to evaluate the clinicoepidemiological profile, pathological mechanisms, and historical features of NCC-associated MD. Relevant reports in six databases were identified and assessed by two reviewers without language restriction. A total of 71 reports containing 148 individuals who developed an MD related to NCC were identified. NCC-associated MD included parkinsonism ( = 47), ataxia ( = 32), chorea ( = 18), dystonia ( = 13), tremor ( = 8), myokymia ( = 6), myoclonus ( = 4), ballism ( = 1), tics ( = 1), and others ( = 18). The mean and median ages were 36.58 (standard deviation: 20.51) and 35 years (age range: 1-88 years), respectively. There was a slight predominance of female sex (52.17%). On follow-up, 58.90% of the individuals had a full recovery; two deaths were reported. We believe that the majority of cases reported were only diagnosed because patients had classical clinical manifestations generally investigated by neuroimaging, resulting in incidental findings suggestive of NCC, which were later supported by laboratory examinations. Therefore, the association between NCC and MD is probably underreported. Clinicians should be wary of this association, mainly in endemic areas for cysticercosis.
PubMed: 33506145
DOI: 10.4103/bc.bc_48_20 -
Romanian Journal of Ophthalmology 2024Several ocular adverse effects have been attributed to Topiramate, a sulfonamide derivative. It can cause problems in the eye such as choroidal effusion syndrome, acute...
UNLABELLED
Several ocular adverse effects have been attributed to Topiramate, a sulfonamide derivative. It can cause problems in the eye such as choroidal effusion syndrome, acute angle closure glaucoma, myopic shift, visual field defects, and Myokymia. If not identified early, it can be vision-threatening. It is commonly used for migraine prophylaxis, partial onset, and generalized tonic-clonic seizures. It has also been prescribed for bipolar disorder and alcoholism. The risk of adverse reactions with this drug is 3%. The prognosis is favorable if it is discontinued early and prompt therapy is initiated.
OBJECTIVE
This article reported a case series of topiramate-induced ocular complications.
MATERIALS AND METHODS
The patients presented with high intraocular pressure and blurred vision following a topiramate prescription for headache.
CONCLUSION
Timely recognition and intervention can prevent potential visual loss in such cases.
Topics: Humans; Topiramate; Glaucoma, Angle-Closure; Myopia
PubMed: 38617722
DOI: 10.22336/rjo.2024.14 -
Cureus Nov 2022Acetazolamide, a carbonic anhydrase inhibitor, is primarily used in the treatment of glaucoma, due to its role in decreasing intraocular pressure by lowering the...
Acetazolamide, a carbonic anhydrase inhibitor, is primarily used in the treatment of glaucoma, due to its role in decreasing intraocular pressure by lowering the production of aqueous humor. Additionally, by lowering cerebrospinal fluid (CSF) production, it is also used in the treatment of raised intracranial pressure. Drug-induced myokymia has rarely been reported, with known triggers being clozapine, gabapentin and flunarizine, and topiramate. Acetazolamide-induced myokymia itself has only been reported once before, to the best of our knowledge, and the exact mechanism behind this occurrence remains unknown. We, therefore, report a rare case of periorbital myokymia induced by the use of acetazolamide in a patient diagnosed with idiopathic intracranial hypertension. The nature of her symptoms was significant, as they caused her considerable distress, and subsided almost immediately upon discontinuation of the drug.
PubMed: 36579233
DOI: 10.7759/cureus.31920 -
Clinical Case Reports Jul 2022We describe a patient who presented with fatigue and pulling sensation in his lower limbs. He had continuous muscle contractions over his trunk (myokymia) which pointed...
We describe a patient who presented with fatigue and pulling sensation in his lower limbs. He had continuous muscle contractions over his trunk (myokymia) which pointed towards the diagnosis of Isaacs syndrome which was confirmed by strongly positive CASPR2 antibodies in blood.
PubMed: 35898757
DOI: 10.1002/ccr3.6086 -
SN Comprehensive Clinical Medicine 2022The purpose of this study is to report eyelid myokymia in patients recently recovered from COVID-19 disease. A cohort of 15 patients who developed eyelid myokymia during...
The purpose of this study is to report eyelid myokymia in patients recently recovered from COVID-19 disease. A cohort of 15 patients who developed eyelid myokymia during or immediate post-recovery of systemic disease were evaluated. Demographic, clinical characteristics, effect of age, and hospitalization on the disease course were studied. The disease course was evaluated every month for 3 months period. All, except 2, patients had complete resolution of lid myokymia within 3 months of onset. Median [IQR] myokymia recovery time was 42 [31,60] days. Age and duration of hospitalization had a significant linear relationship with myokymia recovery time. Recovery was delayed by 2.64 days with every 1-year increment in age and by 6.19 days with every additional day of hospital stay. Recovery time was independent of severity of systemic disease ( = .055) and gender ( = 0.2). Eyelid myokymia can be a possible manifestation of COVID-19 recovery phase. While myokymia recovers gradually in all these patients, older age and a longer duration of hospitalization are associated with slower recovery.
PubMed: 35036848
DOI: 10.1007/s42399-021-01094-w -
International Journal of Molecular... May 2023The gene encodes Kv1.1 voltage-gated potassium channel α subunits, which are crucial for maintaining healthy neuronal firing and preventing hyperexcitability.... (Review)
Review
The gene encodes Kv1.1 voltage-gated potassium channel α subunits, which are crucial for maintaining healthy neuronal firing and preventing hyperexcitability. Mutations in the gene can cause several neurological diseases and symptoms, such as episodic ataxia type 1 (EA1) and epilepsy, which may occur alone or in combination, making it challenging to establish simple genotype-phenotype correlations. Previous analyses of human variants have shown that epilepsy-linked mutations tend to cluster in regions critical for the channel's pore, whereas EA1-associated mutations are evenly distributed across the length of the protein. In this review, we examine 17 recently discovered pathogenic or likely pathogenic variants to gain new insights into the molecular genetic basis of channelopathy. We provide the first systematic breakdown of disease rates for variants in different protein domains, uncovering potential location biases that influence genotype-phenotype correlations. Our examination of the new mutations strengthens the proposed link between the pore region and epilepsy and reveals new connections between epilepsy-related variants, genetic modifiers, and respiratory dysfunction. Additionally, the new variants include the first two gain-of-function mutations ever discovered for , the first frameshift mutation, and the first mutations located in the cytoplasmic N-terminal domain, broadening the functional and molecular scope of channelopathy. Moreover, the recently identified variants highlight emerging links between and musculoskeletal abnormalities and nystagmus, conditions not typically associated with . These findings improve our understanding of channelopathy and promise to enhance personalized diagnosis and treatment for individuals with -linked disorders.
Topics: Humans; Channelopathies; Ataxia; Myokymia; Mutation; Epilepsy; Kv1.1 Potassium Channel
PubMed: 37240170
DOI: 10.3390/ijms24108826 -
American Journal of Human Genetics Sep 2022The leucine-rich glioma-inactivated (LGI) family consists of four highly conserved paralogous genes, LGI1-4, that are highly expressed in mammalian central and/or...
The leucine-rich glioma-inactivated (LGI) family consists of four highly conserved paralogous genes, LGI1-4, that are highly expressed in mammalian central and/or peripheral nervous systems. LGI1 antibodies are detected in subjects with autoimmune limbic encephalitis and peripheral nerve hyperexcitability syndromes (PNHSs) such as Isaacs and Morvan syndromes. Pathogenic variations of LGI1 and LGI4 are associated with neurological disorders as disease traits including familial temporal lobe epilepsy and neurogenic arthrogryposis multiplex congenita 1 with myelin defects, respectively. No human disease has been reported associated with either LGI2 or LGI3. We implemented exome sequencing and family-based genomics to identify individuals with deleterious variants in LGI3 and utilized GeneMatcher to connect practitioners and researchers worldwide to investigate the clinical and electrophysiological phenotype in affected subjects. We also generated Lgi3-null mice and performed peripheral nerve dissection and immunohistochemistry to examine the juxtaparanode LGI3 microarchitecture. As a result, we identified 16 individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3. Deep phenotypic characterization showed LGI3 LoF causes a potentially clinically recognizable PNHS trait characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability. Lgi3-null mice showed reduced and mis-localized Kv1 channel complexes in myelinated peripheral axons. Our data demonstrate bi-allelic LoF variants in LGI3 cause a clinically distinguishable disease trait of PNHS, most likely caused by disturbed Kv1 channel distribution in the absence of LGI3.
Topics: Animals; Autoantibodies; Axons; Genomics; Humans; Intracellular Signaling Peptides and Proteins; Mammals; Mice; Myokymia; Nerve Tissue Proteins; Phenotype; Reverse Genetics
PubMed: 35948005
DOI: 10.1016/j.ajhg.2022.07.006