Clinical and Genetic Profile of Spinocerebellar Ataxias in a Tunisian Cohort
Objective: Our aim was to determine the clinical, genetic and radiological characteristics of spinocerebellar ataxias (SCA) in a Tunisian cohort. Background: SCA is a heterogenous…FGF14 repeat expansions: prevalence and case series of patients with SCA27B from Slovakia
Objective: This study aimed to investigate the presence of pathogenic repeat expansion in the Fibroblast Growth Factor (FGF14) gene in patients with idiopathic late-onset cerebellar…Diagnostic challenges with novel SCA variants: A case of STUB1 mutation
Objective: We present a case of SCA48 found on multi-gene sequencing panel [MGSP] after negative dementia workup. Background: Spinocerebellar ataxia [SCA] is a genotypically &…Progressive Apraxia of Speech as a Presenting Symptom of Spinocerebellar Ataxia Type 2
Objective: To describe a spinocerebellar ataxia (SCA) presenting with progressive apraxia of speech (AOS), a previously undescribed SCA phenotype. Background: Spinocerebellar ataxia type 2 (SCA2)…A study on the phenomenological analysis of Spinocerebellar Ataxia type 12 revealing a dystonic imprint
Objective: To assess the presence and distribution of dystonia in spinocerebellar ataxia type 12 (SCA12). Background: SCA12, commonly seen in the Agarwal community in India,…Movement-Related Potentials Recorded Using Cerebellar Deep Brain Stimulation Leads
Objective: Investigate cerebellar local field potentials (LFPs) associated with movement using DBS leads in patients with spinocerebellar ataxia. Background: The Bereitschaftspotential (BP) detectable via EEG…Case Report Functional Neurological Disorder as a Harbinger of Spinocerebellar Ataxia 8
Objective: - Background: Functional neurologic disorder (FND) can be a precursor to neurodegeneration. FND is reported as a risk for developing Parkinson’s disease (PD) [1,3].…Virtual reality in patients with Hereditary Spastic Paraplegia
Objective: To assess the benefits of vestibular rehabilitation (VR) with virtual reality as a therapeutic tool in individuals with Hereditary Spastic Paraplegia (HSP), comparing two…Masticatory function evaluation methods in movement disorders
Objective: To characterize masticatory function in individuals with Parkinson's Disease (PD) and Spinocerebellar Ataxia (SCA3) regarding the orofacial myofunctional condition (OMES-E), the masticatory performance and…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…
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