Three Siblings with Progressive Cerebellar Ataxia Associated with a Rare PRKCG Variant
Objective: We report three siblings with late-onset, slowly progressive cerebellar ataxia associated with a c.475G>A (p.Gly159Arg) missense variant in the PRKCG gene. Background: Spinocerebellar ataxia type 14…Oculomotor Abnormalities in Spinocerebellar Ataxia Type-12: A Functional Neuroimaging Study
Objective: This study aimed to investigate eye movements, specifically dysmetric saccades and cerebellar nystagmus, in Spinocerebellar Ataxia Type-12 (SCA12) using functional magnetic resonance imaging (fMRI)…A VUS and the Value of a Biomarker in Ataxia with Oculomotor Apraxia Type 2
Objective: Objective: To demonstrate the importance of serum biomarkers, such as alpha-fetoprotein (AFP), in the diagnostic evaluation of Ataxia with Oculomotor Apraxia Type 2 (AOA2).…Clinical and Genetic profile of patients presenting with Adult-onset cerebellar ataxia of probable genetic aetiology
Objective: To study the genetic profile of patients presenting with adult-onset cerebellar ataxia of probable genetic aetiology using whole exome and mitochondrial sequencing (WEMS) Background:…CANVAS: think to assess cognition!
Objective: To determine the frequency and severity of cognitive impairment in RFC1-positive patients and comprehensively describe the pattern of cognitive disorders. Background: Cerebellar ataxia, neuropathy,…Ataxia Telangiectasia Diagnosis in Lower-Middle-Income Countries: A Case Report
Objective: to describe clinical features and diagnostic tests in a patient with Ataxia Telangiectasia (AT) in Vietnam. Background: AT is a rare hereditary syndrome, the…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)…Phenomenology of Coenzyme Q10-deficiency Spinocerebellar Ataxia: Case Description Of Two Siblings And New Therapeutic Perspectives
Objective: To describe the phenomenology of SCAR9, caused by a homozygotic mutation in COQ8A gene, and to describe the positive effects of a holistic approach…Genetic Architecture Of Movement Disorder And Its Association With Consanguinity In Pashtoon Population
Objective: Purpose of the study was to improve the understanding on genetic basis of movement disorders and use of this information for protective measurements like…NGS diagnosis rate in a combined cerebellar ataxia and spastic paraplegia series from southern Spain
Objective: To evaluate the diagnosis rate of Next Generation Sequencing (NGS) in a combined series of patients with progressive cerebellar ataxia (CA) and progressive spastic…
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