The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives

Hereditary spinocerebellar degeneration (SCD) encompasses an expanding list of rare diseases with a broad clinical and genetic heterogeneity, complicating their diagnosis and management in daily clinical practice. Correct diagnosis is a pillar for precision medicine, a branch of medicine that promises to flourish with the progressive improvements in studying the human genome. Discovering the genes causing novel Mendelian phenotypes contributes to precision medicine by diagnosing subsets of patients with previously undiagnosed conditions, guiding the management of these patients and their families, and enabling the discovery of more causes of Mendelian diseases. This new knowledge provides insight into the biological processes involved in health and disease, including the more common complex disorders. This review discusses the evolution of the clinical and genetic approaches used to diagnose hereditary SCD and the potential of new tools for future discoveries.

Mediastinal Tumor Resection in a Patient with Spinocerebellar Degeneration

Background: In spinocerebellar degeneration (SCD) patients, general and regional anesthesia may cause postoperative dysfunction of respiratory, nerve and muscle systems. We present the surgical case of thymoma developed in patient with SCD.Case presentation: A 47-year-old woman with spinocerebellar degeneration was admitted because of a well-defined mass measuring 48 x 31 mm in anterior mediastinum. She showed limb, truncal, ocular, and speech ataxia; hypotonia; areflexia; sensory disturbances; and muscle weakness. Her eastern cooperative oncology group performance status was 4. Surgical resection was performed via video-assisted thoracic surgery and under general anesthesia only without epidural analgesia. The mass was diagnosed as type B1 thymoma without capsular invasion (Masaoka stage I). The patients got a good postoperative course by cooperation with anesthesiologists and neurologists in perioperative managements. She has been well over 3 years of follow-up.Conclusions: In conclusion, careful surgical and anesthesia management is essential for providing an uneventful postoperative course in patients with SCD. Especially, selection of minimal invasive approach and avoid diaphragmatic nerve damage are the most important points in surgical procedures.