Pedro J Garcia Ruiz, Lola Diaz Feliz, Cici E Feliz, Isabel Lorda Sanchez, Almudena Avila Fernandez, Fiona Blanco Kelly, Maria Jose Trujillo Tiebas, Javier Del Val, Inma Navas Vinagre
{"title":"The enduring enigma of sporadic chorea: A single center case series.","authors":"Pedro J Garcia Ruiz, Lola Diaz Feliz, Cici E Feliz, Isabel Lorda Sanchez, Almudena Avila Fernandez, Fiona Blanco Kelly, Maria Jose Trujillo Tiebas, Javier Del Val, Inma Navas Vinagre","doi":"10.5334/tohm.800","DOIUrl":"https://doi.org/10.5334/tohm.800","url":null,"abstract":"<p><p>Chorea can have a wide variety of causes including neurodegenerative, pharmacological, structural, metabolic, infectious, immunologic and paraneoplastic processes. We reviewed the clinical records of patients with apparently sporadic choreic movements and no relevant family history, who presented to our neurology department (Hospital Fundación Jimenez Diaz) between 1991 and 2022. We detected 38 cases of apparent sporadic chorea (ASC); Our analysis revealed 5 cases of genetic chorea (including 3 cases with Huntington's disease) while 6 cases were autoimmune/hematological; 6 drug-related chorea, 5 metabolic-vascular, 5 due to miscellaneous conditions and 4 were of mixed etiology. No clear etiology was identified in 8 cases. The differential diagnosis of ASC is extensive and challenging.</p><p><strong>Highlights: </strong>Chorea can have a wide variety of genetic and sporadic causesWe reviewed the clinical records of patients with apparently sporadic chorea (ASC), who presented to our neurology department over the last 30 yearsWe detected 38 cases of apparent ASC; Our analysis revealed a wide array of different sporadic conditions and 5 cases of genetic choreaThe differential diagnosis of ASC is extensive and challenging.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10487123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10231767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sofia Rael, Negin Badihian, Kelsey M Smith, Elizabeth A Coon
{"title":"Chorea Associated with Lamotrigine Use.","authors":"Sofia Rael, Negin Badihian, Kelsey M Smith, Elizabeth A Coon","doi":"10.5334/tohm.751","DOIUrl":"https://doi.org/10.5334/tohm.751","url":null,"abstract":"<p><strong>Background: </strong>Movement disorders, including chorea, have been cited as a side effect of lamotrigine use. However, the association is controversial and clinical characteristics in such cases are unclear. We sought to explore whether chorea may be associated with lamotrigine use.</p><p><strong>Methods: </strong>We performed a retrospective chart review of all patients diagnosed with chorea who had concurrent use of lamotrigine between 2000-2022. Demographic information and clinical characteristics were analyzed, including medical comorbidities and concurrent medication use. A literature search and review were conducted, with additional cases of lamotrigine-associated chorea analyzed.</p><p><strong>Results: </strong>Eight patients met the inclusion criteria for the retrospective review. In 7 patients, other causes of chorea were considered more likely. However, a 58-year-old woman with bipolar disorder on lamotrigine for mood stabilization had a clear association of chorea induced by lamotrigine. The patient was on multiple centrally active medications. Three additional cases of lamotrigine-associated chorea were identified through a literature review. In 2 of these cases, other centrally acting agents were used, and chorea was resolved with weaning lamotrigine.</p><p><strong>Discussion: </strong>Chorea is infrequently seen in the setting of lamotrigine use. In these rare cases, the presence of other centrally acting medications with lamotrigine may contribute to chorea.</p><p><strong>Highlights: </strong>Lamotrigine use is associated with movement disorders, including chorea, but the characteristics are not clearly defined. From our retrospective review, one adult had clear temporal and dose-related association between chorea and lamotrigine. We analyzed this case in conjunction with a literature review of cases of chorea associated with lamotrigine.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9983495/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10856718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kathryn W Ruckart, Caroline Wilson, Mary E Moya-Mendez, Lyndsay L Madden, Adrian Laxton, Mustafa S Siddiqui
{"title":"Effect of Ventral Intermediate Nucleus Deep Brain Stimulation on Vocal Tremor in Essential Tremor.","authors":"Kathryn W Ruckart, Caroline Wilson, Mary E Moya-Mendez, Lyndsay L Madden, Adrian Laxton, Mustafa S Siddiqui","doi":"10.5334/tohm.757","DOIUrl":"https://doi.org/10.5334/tohm.757","url":null,"abstract":"<p><strong>Background: </strong>There is a paucity of literature examining the effect of Ventral Intermediate Nucleus (VIM) deep brain stimulation (DBS) on voice in patients with vocal tremor (VT).</p><p><strong>Objective: </strong>Investigate the effect of unilateral and bilateral VIM DBS on voice in patients with Essential Tremor (ET) and VT.</p><p><strong>Methods: </strong>All patients receiving VIM DBS surgery underwent voice evaluation pre- and six-months post-operatively. We collected patient-reported quality-of-life outcome measures and acoustic voice measures of sustained phonation and connected speech. Acoustic measures specific to VT included amplitude tremor intensity index (ATRI), frequency tremor intensity index (FTRI), rate and extent of F0 modulation, and rate and extent of intensity modulation.</p><p><strong>Results: </strong>Five patients, age 72.8 ± 2.6 years, 4 female, 1 male with mean disease duration of 29 ± 26.2 years met the inclusion criteria and were included. Two subjects had bilateral procedure and three had unilateral. We observed significant improvements in measures of vocal tremor including ATRI, FTRI, rate of F0 modulation, rate of intensity modulation, and extent of intensity modulation, as well as patient reported voice-related quality of life measured by VHI-10. Bilateral VIM DBS cases showed greater improvement in VT than unilateral cases.</p><p><strong>Conclusion: </strong>Both unilateral and bilateral VIM DBS resulted in significant improvement of VT, with more improvement demonstrated in patients having bilateral as compared to unilateral VIM DBS. In addition, patients also reported significant improvements in voice-related quality of life. If larger studies confirm our results, VIM DBS has the potential to become a treatment specifically for disabling VT.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162197/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9690814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Pistol Shooting Dystonia Treated with Thalamotomy.","authors":"Masahiko Nishitani, Shiro Horisawa, Taku Nonaka, Kotaro Kohara, Tatsuki Mochizuki, Takakzu Kawamata, Takaomi Taira","doi":"10.5334/tohm.779","DOIUrl":"https://doi.org/10.5334/tohm.779","url":null,"abstract":"<p><strong>Background: </strong>Neurosurgical treatment for pistol shooting dystonia has not been studied.</p><p><strong>Case report: </strong>The patient was a 41-year-old woman who participated in the Olympic Games four times as a shooting player. Five months after the final Tokyo Olympic trials, she developed dystonia of the right index finger when shooting. Stereotactic thalamotomy was performed, and a complete resolution of dystonia was achieved. She garnered her personal best score and placed fifth in the Tokyo Olympics.</p><p><strong>Discussion: </strong>Thalamotomy along with deep brain stimulation can be a surgical modality for patients with task-specific dystonia who fail oral medications or botulinum toxin therapy.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10487115/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10231765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shakya Bhattacharjee, Monty A Silverdale, Michael Bonello, Julian Evans, Christopher Kobylecki
{"title":"Generalized Dystonia Due to a Pathogenic <i>THAP1</i> Variant Showing Sustained Response to Globus Pallidus Deep Brain Stimulation.","authors":"Shakya Bhattacharjee, Monty A Silverdale, Michael Bonello, Julian Evans, Christopher Kobylecki","doi":"10.5334/tohm.774","DOIUrl":"https://doi.org/10.5334/tohm.774","url":null,"abstract":"<p><p>A 21-year-old woman of south Asian origin presented with cervical dystonia which had progressed over the previous three years. Her symptoms started as writer's cramp since the age of seven years. She did not respond to medications and needed botulinum toxin injection for generalised dystonia. Subsequent whole genome sequencing revealed a likely pathogenic c.98G>A p.(Cys33Tyr) heterozygous variant in the <i>THAP1</i> gene. She underwent bilateral posteroventral globus pallidus interna (GPi) deep brain stimulation (Medtronic Activa PC) implantation at the age of thirty-one years. She responded well to the deep brain stimulation even after more than 8 years post-surgery though she needs botulinum toxin injection for her cervical dystonia.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453957/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10176743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Oromandibular Dystonia: Clinical and Demographic Data from Eight-Two Patients.","authors":"Mehmet Balal, Meltem Demirkiran","doi":"10.5334/tohm.730","DOIUrl":"https://doi.org/10.5334/tohm.730","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to determine the demographic and clinical characteristics of patients with oromandibular dystonia (OMD).</p><p><strong>Background: </strong>Dystonia is a movement disorder characterized by sustained involuntary muscle contractions that often cause abnormal postures. OMD is a rare focal dystonia that affects the tongue, jaw, and mouth. OMD, which is a rare public health problem, is often recognized as psychogenic and there are delays in its diagnosis and treatment.</p><p><strong>Methods: </strong>Patients with OMD, both isolated and combined, followed at our Movement Disorders Outpatient Clinic between 2004 and 2021 were enrolled in this study. Age, sex, age at onset, and disease duration were recorded. The type of OMD, affected muscles, etiologies of accompanying neurological disorders, and treatment were noted.</p><p><strong>Results: </strong>A total of 82 patients (44 women, 38 men) were included in this study. Among these, 39 patients had isolated OMD, and 43 patients had either segmental or generalized dystonia. Seven patients reported a family history of dystonia. Only nine patients reported a sensory trick. The average disease duration was 6.01 ± 3.73 (range, 1-29) years, and the average age at onset was 43.34 ± 18.24 (range, 1-78) years. The disease etiology was unknown (idiopathic) in most patients. Fifteen patients reported task-specific dystonia. The most common type of dystonia was jaw-opening dystonia.</p><p><strong>Conclusion: </strong>OMD is focal dystonia that significantly affects the quality of life. This study adds more data to the literature by defining the clinical features of this rare disorder and draws attention to this neglected type of dystonia.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9896995/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9423404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Paul G Yeh, Karen Spruyt, Lourdes M DelRosso, Arthur S Walters
{"title":"A Narrative Review of the Lesser Known Medications for Treatment of Restless Legs Syndrome and Pathogenetic Implications for Their Use.","authors":"Paul G Yeh, Karen Spruyt, Lourdes M DelRosso, Arthur S Walters","doi":"10.5334/tohm.739","DOIUrl":"https://doi.org/10.5334/tohm.739","url":null,"abstract":"Background: There are several well-known treatments for Restless Legs Syndrome (RLS), including dopamine agonists (pramipexole, ropinirole, rotigotine), anticonvulsants (gabapentin and its analogs, pregabalin), oral or intravenous iron, opioids and benzodiazepines. However, in clinical practice, treatment is sometimes limited due to incomplete response or side effects and it is necessary to be aware of other treatment options for RLS, which is the purpose of this review. Methods: We performed a narrative review detailing all of the lesser known pharmacological treatment literature on RLS. The review purposefully excludes well-established, well-known treatments for RLS which are widely accepted as treatments for RLS in evidence-based reviews. We also have emphasized the pathogenetic implications for RLS of the successful use of these lesser known agents. Results: Alternative pharmacological agents include clonidine which reduces adrenergic transmission, adenosinergic agents such as dipyridamole, glutamate AMPA receptor blocking agents such as perampanel, glutamate NMDA receptor blocking agents such as amantadine and ketamine, various anticonvulsants (carbamazepine/oxcarbazepine, lamotrigine, topiramate, valproic acid, levetiracetam), anti-inflammatory agents such as steroids, as well as cannabis. Bupropion is also a good choice for the treatment of co-existent depression in RLS because of its pro-dopaminergic properties. Discussion: Clinicians should first follow evidence-based review recommendations for the treatment of RLS but when the clinical response is either incomplete or side effects are intolerable other options can be considered. We neither recommend nor discourage the use of these options, but leave it up to the clinician to make their own choices based upon the benefit and side effect profiles of each medication.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9983500/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9592805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A Case of Long-Term Exposure to Valproic Acid Mimicking Tremor-Dominant Parkinson's Disease.","authors":"Kazumasa Sekiguchi, Toshihiro Mashiko, Reiji Koide, Kensuke Kawai, Shigeru Fujimoto, Ryota Tanaka","doi":"10.5334/tohm.755","DOIUrl":"https://doi.org/10.5334/tohm.755","url":null,"abstract":"<p><strong>Background: </strong>Valproic acid is associated with increased risks of tremor and parkinsonism.</p><p><strong>Case report: </strong>A 67-year-old man with a diagnosis of epilepsy who had been treated with valproic acid (VPA) for 32 years noticed right-dominant upper-limb resting tremor accompanied by mild rigidity and bradykinesia. He was initially diagnosed with tremor-dominant Parkinson's disease (TDPD), but dopamine transporter single-photon emission computed tomography demonstrated no nigrostriatal degeneration. At 3 months after discontinuing VPA, his symptoms dramatically improved.</p><p><strong>Discussion: </strong>VPA-induced tremor usually consists of postural or kinetic tremor without asymmetry. Our case indicated that careful evaluation is needed, even in cases of asymmetrical resting tremor and mild parkinsonism resembling TDPD after long term exposure to VPA.</p><p><strong>Highlights: </strong>We report an atypical case of valproic acid-induced tremor and parkinsonism that mimics tremor-dominant Parkinson's disease. Physicians should not exclude the possible relation to valproic acid in patients presenting unilateral resting tremor and parkinsonism even in the absence of long-term side effects.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10198224/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9687006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Daniel López Domínguez, Juan Rodríguez Álvarez-Cienfuegos, Carla Herminia Vera Cáceres
{"title":"Hypomagnesemia, a Rare Cause of Reversible Ataxia.","authors":"Daniel López Domínguez, Juan Rodríguez Álvarez-Cienfuegos, Carla Herminia Vera Cáceres","doi":"10.5334/tohm.749","DOIUrl":"https://doi.org/10.5334/tohm.749","url":null,"abstract":"<p><strong>Background: </strong>A 61-year-old male patient presented with cerebellar syndrome, which had progressively worsened for 10 days, followed by a tonic-clonic seizure.</p><p><strong>Phenomenology shown: </strong>Blood analysis showed severe hypomagnesemia and a brain MRI showed T2 hyperintensity in the cerebellar hemispheres (Figure 1). Therefore, the final diagnosis was cerebellar syndrome and epileptic seizures secondary to severe hypomagnesemia.</p><p><strong>Educational value: </strong>In cases of subacute onset of ataxia, the possibility of ataxia secondary to hypomagnesemia should be considered, as it can be diagnosed with a basic blood test and there are potentially life-threatening outcomes in the absence of treatment, with a reversible course following early supplementation.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162194/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9687787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Luiz Felipe Vasconcellos, Vinicius Pinheiro Soares, Lucas Leroux de Ricchezza
{"title":"Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa.","authors":"Luiz Felipe Vasconcellos, Vinicius Pinheiro Soares, Lucas Leroux de Ricchezza","doi":"10.5334/tohm.746","DOIUrl":"https://doi.org/10.5334/tohm.746","url":null,"abstract":"<p><strong>Background: </strong>Cerebral palsy (CP) should not be considered a <i>diagnosis</i>, but rather a syndrome related to several etiologies, including, but not limited to, neurological sequelae of a perinatal brain injury.</p><p><strong>Case report: </strong>24-years-old man with dystonia and delayed motor and cognitive development had been previously diagnosed with CP. Molecular genetic testing identified a heterozygosity variant in GNAO 1 gene. A therapeutic trial with levodopa was started, with improvement of dystonia.</p><p><strong>Discussion: </strong>GNAO1 gene variant disorders share similarities with other causes of CP syndrome, and thus investigation of this variant should be included in instances of CP syndrome without a clear history of previous perinatal brain injury. GNAO1 dystonic phenotype (DYT-GNAO1) should be considered as dopa-responsive dystonia in some cases.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10077974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10043409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}