Gabriel Persi

Juvenile Huntington disease in Argentina

We analyzed demographic, clinical and genetic characteristics of juvenile Huntington disease (JHD) and it frequency in an Argentinean cohort. Age at onset was defined as the age at which behavioral, cognitive, psychiatric or motor abnormalities suggestive of JHD were first reported. Clinical and genetic data were similar to other international series, however, in this context we identified the highest JHD frequency reported so far (19.72%; 14/71). Age at onset of JHD is challenging and still under discussion. Our findings reinforce the hypothesis that clinical manifestations, other than the typical movement disorder, may anticipate age at onset of even many years. Analyses of JHD cohorts are required to explore it frequency in populations with different backgrounds to avoid an underestimation of this rare phenotype. Moreover, data from selected populations may open new pathways in therapeutic approaches and may explain new potential correlations between HD presentations and environmental or biological factors.

Opsoclonus-myoclonus-ataxia syndrome and HIV seroconversion

Sirs, Neurological disorders are a well-known complication of human immunodeficiency virus (HIV) infection [7]. An incidence of 2–3% of clinically relevant movement disorders has been identified in patients with HIV infection seen at tertiary referral centers, and in several cases it may represent the initial manifestation of HIV infection [8]. Nevertheless, the incidence of movement disorders increases significantly, ranging between 5 and 44% in AIDS patients, with a large prevalence of tremor and Parkinsonism [2, 8]. Opsoclonus–myoclonus–ataxia syndrome (OMAS) is a rare neurological disorder associated with many clinical settings [11]. Although the pathophysiology of opsoclonus is still undefined, a dysfunction at the pontine paramedian reticular formation (PPRF) and the cerebellum secondary to a dysregulation of the humoral and cell mediated immune mechanisms is postulated [11]. To our knowledge, OMAS has been previously reported in only two HIV patients [5, 9] but not at the time of seroconversion. We report a 44-year-old white man who was admitted 24 h after the onset of acute opsoclonus, truncal ataxia and orthostatic myoclonus that led to postural instability. His personal and family medical history was unremarkable, with the exception of a mild congenital right brachial paresis. Physical examination revealed involuntary, multidirectional, high-amplitude, conjugate saccadic eye movements. Gait was moderately unsteady, due to involuntary jerking of lower extremities and wide-base standing. The remainder of the neurological and systemic examinations were normal. The routine blood chemistry tests, including thyroid function, were normal but the liver chemistry tests showed elevated s-GOT (74 units/l) and s-GPT (185 units/ l). Serology for Epstein Barr virus, CMV, hepatitis A, B and C virus and VDRL were negative. An HIV antibody test performed 2 months before the onset of symptoms was negative, but two new HIV ELISA and a Western blot (IgG) tests performed 24 h and 48 h after admission showed positive, with a CD4 count of 511 cells/ml (17%) and a viral load of 1.5 9 10 (6.17 log) (NASBA methods). The CSF constituents, a brain MRI and EEG were normal. The patient’s symptoms improved with lorazepam 1 mg/ day and resolved completely after 1 week, but he refused antiretroviral therapy. Two additional viral load assessments and CD4 counts were obtained 1 month and 1 year later, respectively (Fig. 1). This case fulfills the clinical diagnostic criteria of OMAS. Its temporal occurrence and evolution suggest that this syndrome might be not only a random association but the clinical expression of the HIV seroconversion. The HIV seroconversion in this patient was supported by a negative HIV antibody test performed 2 months before the onset of OMAS, followed by a new HIV positive test at time of admission. In accordance with A. Ayarza V. Parisi D. Visconti G. Persi C. A. Rugilo E. M. Gatto Department of Neurology, Sanatorio de la Trinidad Mitre, Bartolome Mitre 2553, CP 1039, Buenos Aires, Argentina

Focal Task-specific Dystonia among Professional Musicians in Latin America

In Response To: Frucht SJ. Focal task-specific dystonia—from early descriptions to a new, modern formulation. Tremor Other Hyperkinet Mov. 2014; 4. doi: 10.7916/D8VD6WHP

Optical coherence tomography (OCT) study in Argentinean Huntington’s disease patients

Abstract Background: Huntington’s disease (HD) is a genetic, rare and progressive neurodegenerative disorder that causes motor and cognitive impairment in midlife patients. Although retinal damage was observed in animal HD models and in patients with other neurodegenerative diseases, we still need confirmation of impairment in HD patients. Optical coherence tomography (OCT) is a non-invasive methodology that analyses the retinal nerve fibre layers (RNFL) and could reflect processes of neurodegeneration. Methods: A cross-sectional study with 14 HD patients who underwent a spectral domain OCT. Results were compared with a control group. Demographic data were also obtained. Results: Temporal and superior RNFL sectors in HD showed a significant RNFL thinning compared with a control group. However, no differences were identified in mean total RNFL thickness between HD patients and controls. Conclusions: OCT is a rapid and non-invasive technique that can be investigated in larger cohorts of patients to assess its potential role as a biomarker in HD patients.

RAPIDLY PROGRESSIVE DEMENTIAS: ETIOLOGIES FOUND IN A HIGH COMPLEXITY REFERRAL CENTER IN BUENOS AIRES

P2-312 RAPIDLY PROGRESSIVE DEMENTIAS: ETIOLOGIES FOUND IN A HIGH COMPLEXITY REFERRAL CENTER IN BUENOS AIRES Gustavo Andres Da Prat de Magalhaes, Galeno Rojas, Adriana Leis, Martin Cesarini, Jose Luis Etcheverry, Maria Pilar Sanchez, Maria Bres Bullrich, Natalia Gonzalez Rojas, Virginia Laura Parisi, Gabriel Gustavo Persi, Emilia Gatto, Sanatorio Trinidad Mitre, Buenos Aires, Argentina; Sanatorio de la Trinidad Mitre, Unidad de Neurociencias, Caba, Argentina; Sanatorio de la Trinidad Mitre, Buenos Aires, Argentina; INEBA, Buenos Aires, Argentina. Contact e-mail: gustavoda_prat@hotmail.com

Telemedicine Enables Broader Access to Movement Disorders Curricula for Medical Students

Background The impact of tele-education for movement disorders on medical students is unknown. The present study had three objectives. First, to create a tele-education program for medical students in regions with limited access to movement disorders curricula. Second, to analyze the feasibility, satisfaction, and improvement of medical knowledge. Third, to assess the main reasons of medical students for attending this course. Methods In 2016, a program was piloted in a low-middle income (Cameroon) and a middle-high income (Argentina) country. Medical students were offered a free movement disorder tele-education program (four medical schools in Argentina, and 1 medical school in Cameroon). Six real-time videoconferences covering hyperkinetic and hypokinetic movement disorders were included. Evaluations included attendance, pre- and post-medical knowledge, and satisfaction questionnaires. Results The study included 151 undergraduate medical students (79.4% from Argentina, 20.6% from Cameroon). Feasibility was acceptable with 100% and 85.7% of the videoconferences completed in Argentina and Cameroon, respectively. Attendance was higher in Argentina compared to Cameroon (75% vs. 33.1%). According to student reports, the topics and innovative educational environment were the main reasons for attendance. Both groups ranked satisfaction as moderate to high, and medical knowledge improved similarly in both countries. Discussion Tele-education can improve movement disorders knowledge in medical schools in high-middle and low-middle income countries lacking access to other educational opportunities.

Sertraline-induced Hemichorea

Background Hemichorea–hemiballism is a syndrome secondary to different etiologies. Drug-induced hemichorea is a rare syndrome related to selective serotonin reuptake inhibitors. To the best of our knowledge, no previous cases of hemichorea associated with sertraline have been reported. Case Report A 65-year-old female noticed hemichorea 1 week after initiation of sertraline. After extensive investigations, other causes of hemichorea were excluded. Hemichorea remitted after sertraline withdrawal. Discussion In our patient, temporal association and the negative clinical assessment supported a diagnosis of likely drug-induced involuntary movement. We hypothesized that enhanced serotonergic transmission in the ventral tegmental area or nigrostriatum may be involved in sertraline-induced hemichorea.