https://emerging-neurologist.org/ <p><span style="font-weight: 400;">Emerging Neurologist is the journal of the Fédération Internationale des Jeunes Neurologues Francophones (FIJNF). It is a diamond open access and double blind peer-reviewed journal: all the articles are published under a CC-BY license and no fee will be charged for submission and publication (no article processing charges). Emerging Neurologist publishes scientific articles, written by at least one junior neurologist (Resident or Clinic Head Assistant). The journal is hosted by Université Paris Cité.</span></p> Université Paris Cité en-US Emerging Neurologist 2967-767X https://emerging-neurologist.org/article/view/51 <p><strong>Introduction.</strong> Cerebellar ataxias are a heterogeneous group of disorders with various cerebellar and extracerebellar manifestations. The underlying aetiology in early-onset, progressive, sporadic ataxia, is often autosomal recessive cerebellar ataxia (ARCA). The advent and rapid clinical integration of next-generation sequencing (NGS) has made it increasingly possible to provide a genetic diagnosis for patients with suspected ARCA. However, one of the greatest challenges of NGS is the interpretation and reclassification of variants of uncertain significance (VUS).</p> <p><strong>Case report.</strong> Ataxia telangiectasia was suspected due to progressive teenage-onset ataxia in a 42-year-old woman with a history of breast cancer, ovarian mass, and elevated alpha-fetoprotein and CA-125. ATM sequencing demonstrated a homozygous missense VUS. However, functional studies clarified that this VUS was not pathogenic, but there was reduction in senataxin. This enabled clarification that the diagnosis was ataxia with oculomotor apraxia type 2.</p> <p><strong>Conclusion.</strong> Our case highlights the importance of functional studies, where possible, to enable reclassification of VUSs.</p> Poornima Jayadev Menon Petya Bogdanova-Mihaylova Andrew Green Kenneth Smith Laura Yarram-Smith Malcolm Taylor Philip Byrd Harpreet Dibra Richard A. Walsh Sinead M. Murphy Copyright (c) 2023 the Author(s) https://creativecommons.org/licenses/by/4.0 2023-09-07 2023-09-07 2 1 5 9 10.53480/emerg-neurol.2e8f https://emerging-neurologist.org/article/view/37 <p><strong>Introduction.</strong> Even though it is rare, neurobrucellosis is characterized by broad clinical and imaging features. The diagnosis is often late at the cost of irreversible neurological sequelae.</p> <p><strong>Case report.</strong> We report two cases of neurobrucellosis. The first case is a 29-year-old man with chronic headache, radiculopathy and diplopia. The second case is a 26-year-old man who presented a progressive gait disturbance and hearing loss. In both cases, magnetic resonance imaging revealed leptomeningeal gadolinium enhancement and the second case had additional bilateral hypersignal of the acoustic-facial bundle. Cerebrospinal fluid analysis showed a positive culture for Brucella and elevated titers of anti-Brucella antibodies. Both patients received combined antibiotic therapy without significant improvement.</p> <p><strong>Conclusion.</strong> Our cases highlight the importance of considering Brucella infection in patients with unexplained neurological symptoms in endemic regions, even in the absence of infection symptoms.</p> Nesrine Ghedamsi Hajer Derbali Ines Bedoui Meriam Messelmani Najiba Fekih-Mrissa Ridha Mrissa Copyright (c) 2023 the Author(s) https://creativecommons.org/licenses/by/4.0 2023-05-31 2023-05-31 2 1 1 4 10.53480/emerg-neurol.61e1