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Inherited disorders of spasticity or ataxia exist on a spectrum with overlapping causative genes and phenotypes. We investigated the use of whole-genome sequencing (WGS) to detect a genetic cause when considering this spectrum of disorders as a single group. We recruited 18 Korean individuals with spastic paraplegia with or without cerebellar ataxia in whom common causes of hereditary cerebellar ataxia...
Primary aorto-enteric fistula (PAEF) is usually due to erosion by atherosclerotic aneurysm. We report a case of PAEF secondary to a previously unrecognised focal abdominal aortic dissection. A 66-year-old man was brought to the casualty department with shock and acute-on-chronic back pain. Following resuscitation, he deteriorated further secondary to frank haematemesis. A prompt contrast enhanced...
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