Neurologia Argentina最新文献

{"title":"Caracterizando al enemigo: Infecciones oportunistas en el sistema nervioso central en pacientes con VIH, una serie de casos colombiana","authors":"Carlos Castro-Vásquez ,&nbsp;Diana C. Maldonado ,&nbsp;Paula Arboleda ,&nbsp;Manuel Camargo ,&nbsp;Omar Chavarro ,&nbsp;Gustavo Díaz ,&nbsp;Andrea C. Buitrago ,&nbsp;Habib Georges Moutran","doi":"10.1016/j.neuarg.2021.10.004","DOIUrl":"10.1016/j.neuarg.2021.10.004","url":null,"abstract":"<div><h3>Introduction</h3><p>The opportunistic infections continue to be one of the main causes of morbidity and mortality in HIV-positive; additionally, the central nervous system is one of the most frequently compromised systems. Despite this and the high AIDS mortality rate in Colombia, there are only a few studies that characterize the opportunistic infections of the central nervous system in HIV-positive patients in the country.</p></div><div><h3>Objective</h3><p>To describe the opportunistic infections in the central nervous system and its associated demographic factors in HIV-positive patients, treated in a public hospital of Bogotá.</p></div><div><h3>Materials and methods</h3><p>This study is a retrospective case series study of HIV-AIDS patients hospitalized at Santa Clara Hospital in 2015-2016. Both clinical, paraclinical and demographic variables were collected and a description was made by etiologic agent using the Chi2 test, student t, Mann-Whitney U, ANOVA or Kruskal Wallis (statistical significance of <em>P</em> <!-->&lt;<!--> <!-->0.05)</p></div><div><h3>Results</h3><p>From 538 HIV-AIDS patients, 56 had an opportunistic infection of the central nervous system. Most of them were men, with a mean age of 37,96 (SD 9,96). The average CD4 count was 74<!--> <!-->cells/μL and the most prevalent neuroinfection was cerebral Toxoplasmosis.</p></div><div><h3>Conclusions</h3><p>Central nervous system infections, diagnosed at Hospital Santa Clara, were associated with more than one etiologic agent in some of the patients. The most frequently found infections were caused by <em>Toxoplasma gondii</em> and <em>Cryptococcus neoformans</em>; which had high percentages of mortality and clinical associated complications.</p></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"14 4","pages":"Pages 215-220"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47278047","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Estudio de síntomas neuropsiquiátricos y neuropsicológicos en pacientes con enfermedad de Parkinson seleccionados para la cirugía de estimulación cerebral profunda","authors":"Carol Dillon ,&nbsp;Adriana Leis ,&nbsp;Diego M. Castro ,&nbsp;Virginia García ,&nbsp;Cecilia Zegarra ,&nbsp;Patricio Perez Leguizamón ,&nbsp;Mónica Feldman ,&nbsp;Santiago Driollet Laspiur ,&nbsp;Maria Belen Viaggio ,&nbsp;Cecilia Peralta","doi":"10.1016/j.neuarg.2022.06.001","DOIUrl":"10.1016/j.neuarg.2022.06.001","url":null,"abstract":"<div><h3>Introduction</h3><p>Parkinson's disease (PD) is a neurodegenerative disease that combines motor and non-motor symptoms. The motor symptoms are cardinal, however, these patients also present associated psychiatric and neuropsychological symptoms. Deep brain stimulation surgery (DBS) is a treatment used for patients in fluctuating and advanced phases of PD.</p><p>The objective of this work is to detect psychiatric and neuropsychological signs and symptoms in patients with PD who are candidates for DBS surgery.</p></div><div><h3>Patients and methods</h3><p>An observational cross-sectional cohort study was performed. Forty-one patients with a diagnosis of PD were evaluated. Patients were assessed with a semi-structured neuropsychiatric interview, neuropsychiatric scales, and a complete neuropsychological battery.</p></div><div><h3>Statistical analysis</h3><p>A complete descriptive statistical analysis was carried out, correlations were evaluated with the Pearson test.</p></div><div><h3>Results</h3><p>Forty-one patients with PD were evaluated, age 65.39 (SD 8.34), educational level of 11.95 years (SD 4.37). Previous psychiatric disorders were highly prevalent (68.5%). Mild-degree depressive symptoms and mild–moderate anxiety symptoms were observed, and impulsive symptoms and nocturnal behaviors were frequently reported. Patients presented amnesic-type cognitive impairment, with poor scores on executive and visuoconstructive tests. Significant correlations (<em>p</em> <!-->&lt;<!--> <!-->0.05) were found between the neuropsychiatric and neuropsychological scales.</p></div><div><h3>Conclusions</h3><p>PD patients present frequently psychiatric disorders and cognitive impairment. It is of relevance to carry out a neuropsychological and neuropsychiatric evaluation with adapted and validated scales for the selection of patients for this type of surgery.</p></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"14 4","pages":"Pages 229-238"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43951458","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Análisis comparativo de la sobrevida de los pacientes con meningitis tuberculosa y tuberculosis pulmonar","authors":"Raúl Montalvo ,&nbsp;Aníbal Díaz-Lazo ,&nbsp;Ciro Rodríguez ,&nbsp;Johana Castro ,&nbsp;Marco Suárez ,&nbsp;Félix Acuña","doi":"10.1016/j.neuarg.2021.09.004","DOIUrl":"10.1016/j.neuarg.2021.09.004","url":null,"abstract":"<div><h3>Introduction</h3><p>Tuberculous meningitis is the most serious manifestation of the disease by <em>Micobacterium tuberculosis</em> with a high rate of mortality and sequela among survivors. Nonspecific clinical features and limited laboratory tests lead to delay in diagnosis and treatment, thus reducing the survival of patients.</p></div><div><h3>Objective</h3><p>Analyze the survival of patients with tuberculous meningitis (TBM) and compare with other pulmonary tuberculosis at Daniel Alcides Carrión Hospital in Huancayo, Perú.</p></div><div><h3>Materials and methods</h3><p>An observational, analytical, retrospective study of patients with the diagnosis of tuberculosis over 14 years old was carried out at Daniel Alcides Carrión Hospital in Huancayo, from January 2015 to December 2019.</p></div><div><h3>Results</h3><p>Of 1168 patients diagnosed with tuberculosis; 4.7% had tuberculous meningoencephalitis; the average age was 33 years old, 69% were men; the characteristics of the cerebrospinal fluid were mononuclear predominance of pleocytosis, associated with hyper proteinorachie, hypoglycorrhachia, and adenosine deaminase values above 9<!--> <!-->U/L. The mortality of TBM was 43%; a prolonged time of illness before going to the hospital (<em>p</em> <!-->=<!--> <!-->.03) and a low Glasgow coma scale score (<em>p</em> <!-->=<!--> <!-->.02) were associated with higher mortality. La survival probability of patients with TBM at 20 days after starting treatment was 23% (<em>p</em>:.01; HR: 4.23; 95% <span>C</span>I: 1.44–12.36) and in patients with pulmonary tuberculosis the probability of survival was 79%.</p></div><div><h3>Conclusions</h3><p>TBM shows poorer survival, so it is essential to improve the capacity for early diagnosis and differentiated treatment.</p></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"14 4","pages":"Pages 201-207"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41814023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Síndrome de Miller Fisher: efecto adverso de dosis de refuerzo para COVID-19","authors":"María Díaz ,&nbsp;Miguel Melendez ,&nbsp;Laura Torres ,&nbsp;Julian Gutiérrez","doi":"10.1016/j.neuarg.2022.08.001","DOIUrl":"10.1016/j.neuarg.2022.08.001","url":null,"abstract":"<div><h3>Introduction</h3><p>The SARS-CoV-2 coronavirus has been a challenge for public health, establishing the vaccine as the best tool for its prevention.</p></div><div><h3>Clinical case</h3><p>We present the case of a patient in whom Miller Fisher syndrome was documented after receiving her booster dose with the Oxford-AstraZeneca vaccine.</p></div><div><h3>Conclusion</h3><p>At the moment, a causal relationship between vaccination against COVID-19 and the development of Miller Fisher syndrome cannot be established, but knowledge of this potential adverse effect is relevant for early diagnosis and timely treatment.</p></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"14 4","pages":"Pages 256-259"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1853002822000489/pdfft?md5=999fa8885249302bf89a2cfb3dbb23c9&pid=1-s2.0-S1853002822000489-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46528906","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":"Cromosoma 20 en anillo. Un reto diagnóstico","authors":"Jorge García-Ezquiaga ,&nbsp;María Llanos Carrasco-Marina ,&nbsp;Aránzazu Díaz de Bustamante ,&nbsp;María Teresa Darnaude-Ortiz","doi":"10.1016/j.neuarg.2022.07.004","DOIUrl":"10.1016/j.neuarg.2022.07.004","url":null,"abstract":"<div><h3>Introduction</h3><p>Ring chromosome 20 syndrome is characterized by refractory epilepsy, non-convulsive epilepticus status, characteristic changes on electroencephalogram, behavioral disorder and mild to moderate intellectual disability.</p></div><div><h3>Clinical case</h3><p>Six-year-old man presented with mild intellectual disability and involuntary waking flexion-extension movements of the fingers and wrists, associating intermittent episodes of staring spells. EEG showed non-convulsive status epilepticus. karyotype analysis identified r(20) de novo.</p></div><div><h3>Conclusion</h3><p>We should suspect r(20) in all patients with frontal lobe epilepsy, non-convulsive epilepticus status and intellectual disability, even if the patient has a normal phenotype, and we should include karyotype as part of the initial evaluation.</p></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"14 4","pages":"Pages 251-255"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44293157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"La depresión que no miramos en epilepsia","authors":"Alejandro Thomson,&nbsp;Analia Calle,&nbsp;Ricardo Bernater,&nbsp;Veronica Campanille,&nbsp;Maria E. Fontela,&nbsp;Alfredo E. Thomson","doi":"10.1016/j.neuarg.2022.08.003","DOIUrl":"10.1016/j.neuarg.2022.08.003","url":null,"abstract":"<div><h3>Introduction</h3><p>One out of 3 people with epilepsy (PWE) will present with psychiatric disorders throughout their lives; mood and anxiety disorders are the most common among them. Despite the high frequency and the significant impact of psychiatric comorbidities in the lives of PWE, they remain underdiagnosed and undertreated.</p></div><div><h3>Objectives</h3><p>We identified symptoms of anxiety and depression during routine neurological visits in PWE and made a therapeutic intervention (psychotherapy or use of psychotropic drugs) with subsequent symptom control.</p></div><div><h3>Patients and methods</h3><p>A retrospective study of 127 PWE who were examined at least twice in a two-year period. Several scales (NDDI-E, GAD-7 and MINI's item C) were administered in order to detect symptoms of depression, anxiety, and suicidality.</p></div><div><h3>Results</h3><p>Of the 127 PWE who were examined at least in two occasions, 77 (61%) had positive results for depression and/or anxiety in the first examination, 29 (38%) received antidepressant agents, 16 (21%) were treated with psychotherapy, 25 (32%) were referred to psychiatric consultation, 10 (13%) were changed the antiseizure medication, and 15 (19%) received no intervention. Of the 77, 28 (36%) improved in the subsequent examination. Out of the 50 PWE who had initially had negative results in the scales, 13 (26%) were positive in the second assessment.</p></div><div><h3>Conclusions</h3><p>This study attempts to prove the importance of identifying symptoms of anxiety and depression and make an intervention. It is essential to include history of psychiatric diseases and psychiatric symptoms within the overall management of PWE, given the prevalence of these symptoms and their apparent fluctuating nature.</p></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"14 4","pages":"Pages 239-243"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46007754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mortalidad hospitalaria y riesgo de muerte al egreso por accidente cerebrovascular en pacientes hospitalizados en una unidad geriátrica de agudos","authors":"Jose M. Ocampo-Chaparro ,&nbsp;Jose L. Zambrano-Urbano ,&nbsp;Carlos M. Balcázar-Valencia ,&nbsp;Jared Z. Agudelo-Delgado ,&nbsp;Carlos A. Reyes-Ortiz","doi":"10.1016/j.neuarg.2021.08.002","DOIUrl":"10.1016/j.neuarg.2021.08.002","url":null,"abstract":"<div><h3>Background and objective</h3><p>Cerebrovascular accident (CVA or stroke) in an acute care for the elderly (ACE) unit is the main cause of catastrophic disability. Few studies allow an understanding of the factors related to mortality in older adult (OA) patients with stroke. The objective was to determine the clinical and geriatric conditions associated with mortality during the hospital stay and at discharge in this patient population.</p></div><div><h3>Methods</h3><p>A retrospective, analytical, observational cohort study. 243 patients aged 60 years or more hospitalized for CVA in an ACE unit between 2011 and 2015 were included. The primary outcomes were hospital mortality and risk of death from stroke after discharge. Bivariate and multivariate log-binomial regression analyses were performed to explore the relationship between independent variables and hospital mortality. Similarly, Cox proportional regression was used for survival analyses.</p></div><div><h3>Results</h3><p>The average age was 82<!--> <!-->±<!--> <!-->7 years and 52% belonged to the male gender. Hospital mortality was associated with the Charlson index (RR 1.27, 95% CI 1.08–1.48; <em>p</em> <!-->=<!--> <!-->0.002), delirium (RR 2.89, 95% CI 1.33–6.35; <em>p</em> <!-->=<!--> <!-->0.007), risk for aspiration (RR 4.64, 95% CI 1.78–12.06; <em>p</em> <!-->=<!--> <!-->0.001) and Barthel<!--> <!-->&lt;<!--> <!-->60 at admission (RR 3.71, 95% CI 1.39–9.88; <em>p</em> <!-->=<!--> <!-->0.008). While the risk of death after discharge was associated with delirium during hospitalization (HR 1.96, 95% CI 1.10–3.48; <em>p</em> <!-->=<!--> <!-->0.021) and Barthel<!--> <!-->&lt;<!--> <!-->60 at discharge (HR 2.77, 95% CI 1.23–6.19; <em>p</em> <!-->=<!--> <!-->0.013).</p></div><div><h3>Conclusion</h3><p>Delirium and functional dependence are consistently associated with hospital mortality and the risk of death after discharge from stroke in OA treated in an ACE unit.</p></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"14 3","pages":"Pages 155-163"},"PeriodicalIF":0.0,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47042769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Interrelation between IFN-γ levels and severity of electrodiagnostic abnormality in acute phase of Bell's palsy","authors":"Sara Hamdamyan MD ,&nbsp;Mehdi Maghbooli ,&nbsp;Nazanin Azizi Shalbaf MD ,&nbsp;Abdolreza Esmaeilzadeh","doi":"10.1016/j.neuarg.2021.09.003","DOIUrl":"10.1016/j.neuarg.2021.09.003","url":null,"abstract":"<div><h3>Objective</h3><p>Bell's palsy is the most common cause of peripheral facial palsy. Studies emphasis on the role of herpes simplex virus and herpes zoster in the pathogenesis of this disease. Gamma interferon plays an important role in determining the type of immune response against foreign invaders and intrinsic factors. Regarding increment of IFNγ level in acute viral diseases, we designed this study to assess the IFNγ levels and its relation to the intensity of neurodiagnostic findings in patients with Bell's palsy.</p></div><div><h3>Methods</h3><p>30 patients in acute phase of Bell's palsy were selected and 5<!--> <!-->ml blood was obtained in the first 72<!--> <!-->h after diagnosis and right before the beginning of the treatment. Then Gamma interferon was measured and followed by nerve conduction study (NCS) 6 days after Bell's palsy onset.</p></div><div><h3>Results</h3><p>There was no significant relationship between gender of subjects and serum level of Gamma interferon with the intensity of entanglement in <em>O. oculi</em> and <em>O. oris</em> muscles. Also, there was no meaningful relationship between age and gender of patients and symptomatic factors with serum level of IFNγ.</p></div><div><h3>Conclusion</h3><p>It seems there is no significant relationship between immmunoserologic changes (serum level of IFNγ) and electrophysiological indices (NCS) in the acute stage of Bell's palsy.</p></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"14 3","pages":"Pages 147-154"},"PeriodicalIF":0.0,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44947496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of cervicogenic headache features in migraine population: A cross sectional study","authors":"Vandana Ghai ,&nbsp;Durga Prathap ,&nbsp;Thiagarajan Subramanian","doi":"10.1016/j.neuarg.2021.08.001","DOIUrl":"10.1016/j.neuarg.2021.08.001","url":null,"abstract":"<div><h3>Problem considered</h3><p>Despite of separate diagnostic criteria given by International Headache Society Beta-3 for Migraine and Cervicogenic Headache, there are chances of symptoms getting overlapped with each other. Moreover, there are chances of presence of these two types of headaches in conjunction in sufferers. The solo type treatment of headache will not be satisfactory for patients.</p></div><div><h3>Methods</h3><p>Thirty-one participants with clinical diagnosis of migraine were enrolled in this cross-sectional study. All participants underwent physical examination for cervicogenic headache using the International Headache Society Diagnostic Criteria (IHS). The side and site of pain during headache, associated neck pain, tenderness, restricted range of motion, cervical spine posture and Flexion Rotation Test (FRT) were assessed. The data were analyzed with chi square test and expressed as mean and SD.</p></div><div><h3>Results</h3><p>A statistically significant association were found between Neck Pain and FRT [<em>X</em>² (3)<!--> <!-->=<!--> <!-->13.527, <em>p</em> <!-->=<!--> <!-->0.004] at 0.05 significance level. The results of the study have shown that cervicogenic headache features also present in migraine population. There was no association between FRT with other variables like age, gender and side of pain. But FRT and neck pain were correlated to each other.</p></div><div><h3>Conclusion</h3><p>The possible symptoms were present in migraine and cervicogenic headache together in patients. But focusing on one type (primary) only will lead to missed or under diagnosis of other (secondary). Appropriate diagnostic criteria should be used during assessment of patient complaining about headaches to rule out diverse type of headache; it will help to differentiate headache types and will improve the treatment strategies in patients.</p></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"14 3","pages":"Pages 164-170"},"PeriodicalIF":0.0,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45119368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel dominant variant in STUB1 causing ataxia, movement disorders and cognitive impairment: A complex phenotype mimicking SCA17","authors":"Sergio Rodríguez-Quiroga ,&nbsp;Josefina Perez Maturo ,&nbsp;Lucia Zavala ,&nbsp;Marcelo Andres Kauffman","doi":"10.1016/j.neuarg.2022.06.003","DOIUrl":"10.1016/j.neuarg.2022.06.003","url":null,"abstract":"<div><h3>Introduction</h3><p>Pathogenic variants in <em>STUB1</em><span> can be causal under dominant (SCA48) and recessive (SCAR16) inheritance patterns. We report a SCA48 patient with ataxia, dementia and movement disorders.</span></p></div><div><h3>Clinical case</h3><p><span><span>We describe a 45 year-old man with cognitive impairment, ataxia, </span>bradykinesia, tremor and chorea. A NGS-based multigene panel revealed the presence of a novel heterozygous likely pathogenic variant in </span><em>STUB1</em> gene confirming a diagnosis of SCA48.</p></div><div><h3>Conclusions</h3><p>Hyper and hypokinetic movement disorders seems to be a hallmark of SCA48. The frequent association of ataxia, chorea and cognitive impairment suggest consider SCA48 as a differential diagnosis of SCA17 and other Huntington-like disorders.</p></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"14 3","pages":"Pages 183-186"},"PeriodicalIF":0.0,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44671045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}