title: Lesch-Nyhan Syndrome: Models, Theories, and Therapies.
abstract: 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 phenotype. Several studies have proposed different hypotheses regarding the etiology of this disease, and several treatments have been tried in patients, though none have led to a satisfactory explanation of the disease. New technologies such as next-generation sequencing, optogenetics, genome editing, and induced pluripotent stem cells provide a unique opportunity to map the precise sequential pathways leading from genotype to phenotype.
authors.affiliation: Department of Psychiatry, Douglas Hospital Research Institute, McGill University, Montreal, Que., Canada.
authors.forename: Scott
authors.initials: S
authors.lastname: Bell
authors.affiliation: Department of Psychiatry, Douglas Hospital Research Institute, McGill University, Montreal, Que., Canada.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Kolobova
authors.affiliation: Department of Psychiatry, Douglas Hospital Research Institute, McGill University, Montreal, Que., Canada.
authors.forename: Liam
authors.initials: L
authors.lastname: Crapper
authors.affiliation: Department of Psychiatry, Douglas Hospital Research Institute, McGill University, Montreal, Que., Canada.
authors.forename: Carl
authors.initials: C
authors.lastname: Ernst
keywords: Lesch-Nyhan syndrome; Models; Theories; Therapies