AOA1 Versus AOA2 : A Comparative Study Of A Tunisian Cohort
Objective: The aim of our study is to compare the epidemiological, clinical, paraclinical and follow-up features of AOA1 and AOA2 in order to identify distinctive…SCA27B, an Elusive Diagnosis with Effective Symptomatic Treatment: Two Cases of Late-Onset Progressive and Episodic Cerebellar Ataxia
Objective: We present two cases of late-onset progressive and episodic cerebellar ataxia with prolonged courses of complex diagnostic work-up and management prior to genetic Spinocerebellar…Spinocerebellar Ataxia Type 40 (SCA-40) with a Novel Mutation in an Indian Female: A Case Report
Objective: To report the first Indian patient with SCA 40 who presented in the fifth decade with a novel missense mutation (c.1291C>T, p.His431Tyr), expanding the…Clinical case of Sporadic adult-onset ataxia
Objective: To describe a clinical case of Sporadic adult-onset ataxia(SAOA) Background: Sporadic ataxia in adults is a heterogeneous neurological condition characterized by progressive impairment of…Clinical and Neuroimaging Findings in ANO10-Related Cerebellar Ataxia: Evidence of Widespread Brain Atrophy
Objective: The aim of this study was to evaluate clinical manifestations and magnetic resonance imaging (MRI) changes in patients with ANO10 gene mutations. Background: Neurodegenerative…Quantifying ataxia in RFC1-related disorder using wearable devices
Objective: We aimed to compare standing balance and postural conditions between RFC1 patients and healthy controls. Background: RFC1-related ataxia is a progressive neurological disorder affecting…A Case of Autosomal Dominant Hypocalcemia Presenting with Parkinsonism and Widespread Brain Calcifications
Objective: To describe a case of CASR mutation-related hypocalcemia presenting with progressive movement disorder, cognitive decline, and widespread brain calcifications, illustrating the overlap between metabolic and neurodegenerative disorders.…Clinical case of cerebellar ataxia associated with temporal bone tumor
Objective: To describe a clinical case of tumor-induced cerebellar ataxia in an elderly patient. Background: Ataxia can result from various etiologies, including neurodegenerative diseases, stroke,…Hypothalamic Atrophy in CANVAS/RFC1
Objective: We aimed to investigate hypothalamic volumetry in CANVAS/RFC1. Background: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is now recognized as a late-onset multisystem…Anti Yo-1 Antibody Syndrome: A Case Study of a Paraneoplastic Syndrome Mimicking Atypical Parkinsonism
Objective: To report the case of a patient with anti Yo-1 antibody syndrome mimicking clinically and radiologically as an atypical parkinsonism. Background: The anti Yo-1…
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