Publications by authors named "V Chelban"
Article Synopsis
- Spinocerebellar ataxia 27B (SCA27B) is a disease that affects balance and coordination, caused by a genetic change in a specific part of a gene called FGF14.
- Research shows that most brain damage from this disease happens mainly in the cerebellum, which controls movement.
- In a study of blood samples and brain tissue, scientists found that the genetic change was mostly stable over time, but it exhibited more growth in the cerebellum than in other brain areas, helping to explain why SCA27B mainly affects that part of the brain.
Article Synopsis
- The chapter provides an in-depth look at adult-onset leukoencephalopathies associated with cerebral calcification (CC), focusing on diagnosis through age of onset, clinical features, and brain imaging methods.
- It explains the differences between primary familial brain calcification (PFBC) and secondary forms, including various metabolic and genetic disorders, detailing specific genetic causes.
- The diagnostic process involves family history, clinical assessments, and imaging techniques, with genetic testing being key for proper diagnosis and patient management involving a multidisciplinary approach.
Background: Severe dysphagia poses a significant challenge for clinicians regarding feeding tube choices, practices, and timing due to a lack of evidence-based guidance.
Objectives: To assess national clinical practices and opinions on gastrostomy use in patients with atypical parkinsonian syndromes (APS) across the UK.
Methods: Online survey was administered to clinicians and allied health professionals regarding availability of services, current use, perceived advantages, and problems associated with gastrostomy insertion.
Article Synopsis
- Spinocerebellar ataxia 27B (SCA27B) is an autosomal dominant disorder characterized by GAA•TTC repeat expansions that mainly cause neuronal loss in the cerebellum.
- A study analyzing blood samples, skin cells, and brain tissues found that the repeat expansions are stable in most peripheral tissues, but significantly more unstable in specific regions of the cerebellum.
- The cerebellar-specific expansion bias observed could help explain the disease's focused and late-onset impact on cerebellar function in affected individuals.