Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder caused by mutations in HPRT1, an important enzyme in the purine salvage pathway. Symptoms of LNS include dystonia, gout, intellectual disability, and self-mutilation. Despite having been characterized over 50 years ago, it remains unclear precisely how deficits in hypoxanthine and guanine recycling can lead to such a profound neurological p...

First description: The first description of Lesch-Nyhan Disease may very well have been in the year 1267. Beck (Euro J of Ped Surg 1991) identified an origina l description of what is most probably LND when he uncovered cases of self-injury, gout, and menta l retardation in individuals living in a small village in England where St. Thomas, Archbishop of Canterbury, had been killed. The origina ...

Hybridization of mutant cell lines deficient in hypoxanthine-guanine phosphoribosyl transferase (HGPRT; E.C.: 2.4.2.8) from a variety of established rodent sources with HGPRT plus human cells yielded progeny cells which grew in selective medium containing hypoxanthine, aminopterin and thymidine (HAT). The same result was obtained when the human cell used was an HGPRT minus transformed line deri...

The aim of this study was to assess the prevalence of ataxia of stance in different types of alcohol-dependent patients. Posturographic measurements were performed in 82 abstinent alcohol-dependent patients and 54 healthy controls in order to analyse postural control. According to Lesch and co-workers, alcohol dependence was classified as total abstinence (Type I), drinking without loss of cont...

Classical pseudodifferential operators A on closed manifolds are considered. It is shown that the basic properties of the canonical trace TRA introduced by Kontsevich and Vishik are easily proved by identifying it with the leading nonlocal coefficient C0(A, P ) in the trace expansion of A(P−λ) (with an auxiliary elliptic operator P ), as determined in a joint work with Seeley 1995. The definiti...