Abstract
Sir, We read with interest the paper by Jinnah et al . (2010) in the March 2010 issue of Brain , describing the clinical characteristics of a large series of patients with an attenuated variant of Lesch–Nyhan disease. All of the patients reported had either a deficiency of hypoxanthine–guanine phosphoribosyltransferase (HPRT) or a mutation in the HPRT gene, and all had evidence of overproduction of uric acid; but neurological involvement was highly variable and none exhibited the self injurious behaviour that is diagnostic of the full-blown condition. The existence of a clinically variable phenotype highlights the importance of considering the condition in the differential diagnosis of atypical neurological presentations in adults as well as children, particularly when they are associated with raised levels of serum and/or urinary uric acid. It also opens new possibilities for retrospective diagnosis of historical figures …
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