Clinico-radiological and genetic profile of patients with Ataxia with Oculomotor apraxia type-2 (AOA2)- A case series from India
Objective: To delineate clinical, radiological and genetic profile of patients with ataxia with oculomotor apraxia type-2 (AOA2) in Indian cohort. Background: AOA2 is a relatively…‘If you can’t beat them, join them’: a patient and family perspective on quality of life with North Sea progressive myoclonus epilepsy
Objective: To describe the perspectives of patients and their family on quality of life (QoL) in North Sea- Progressive Myoclonus Epilepsy (NS-PME). Background: NS-PME is…paraneoplastic cerebellar ataxia: a rare cause of late-onset ataxia
Objective: investigate the clinical features, imaging findings and immunological characteristics of Paraneoplastic cerebellar ataxia (PCA) in our cohort. Background: Paraneoplastic cerebellar ataxia (PCA) is a…Spectrum of polysomnographic abnormalities in a cohort of sporadic late onset ataxia patients
Objective: To evaluate the occurrence of rapid eye movement behavioral disorder (RBD) and associated polysomnographic abnormalities in patients of sporadic adult onset ataxia Background: Sporadic…Movement disorders secondary to neurocysticercosis: a case report from Bolivia
Objective: The objective is the presentation of a movement disorder related to Taenia solium infection that produces neurocysticercosis. Background: The incidence of neurocysticercosis in Bolivia…Novel Partial Gene Deletion in CaCNA1A Presenting with Gait Ataxia, Vertigo, and Abnormal Eye Movements
Objective: To report a partial gene deletion in CaCNA1A associated with ataxia. Background: CaCNA1A gene, located on chromosome 19p, encodes the alpha-1a subunit of the…Volatile solvent abuse and Cerebellar ataxia: A case series
Objective: Delineation of clinical and radiological features of cerebellar ataxia from volatile solvent abuse. Background: Volatile solvents like glues, correction fluid, acrylic paints, varnishes, lacquers…Increased Risk of Suicidal Ideation in Patients with Spinocerebellar Ataxias
Objective: We aimed to investigate if individuals with spinocerebellar ataxias (SCAs) experience increased suicidal ideation and to identify associated factors. Background: Suicidality has been extensively…Friedreich’s ataxia: A descriptive study of a Tunisian cohort
Objective: we aim to describe the clinical, radiological and electrophysiological features of Friedreich's ataxia (FA) in our population. Background: FA is the most common autosomal…Phenotypic spectrum and natural history of POLR3A-associated spastic ataxia
Objective: To foster trial-readiness, we delineate the full phenotypic spectrum and provide piloting longitudinal natural progression data of POLR3A-associated spastic ataxia in a large international cohort.…
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