title: A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher-Neuhäuser syndrome).
abstract: A family is described in which two brothers have spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy. This report provides further evidence to support the previous suggestion that this triad of manifestations represents a specific single-gene disorder, designated Boucher-Neuhäuser syndrome. Analysis of affected individuals shows that neurological signs usually develop during adolescence or young adulthood (range: early childhood-fourth decade) and are slowly progressive or non-progressive, whereas ophthalmologic manifestations have an age of onset which varies from the first to the sixth decade of life and a pronounced variability in progression.
authors.affiliation: Maternal and Child Health Department, U.S.L. 23, Imola, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Baroncini
authors.forename: N
authors.initials: N
authors.lastname: Franco
authors.forename: A
authors.initials: A
authors.lastname: Forabosco
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D005640:Follicle Stimulating Hormone / Q000097:blood; D005808:Genes, Recessive / Q000235:genetics*; D007987:Gonadotropin-Releasing Hormone; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis / Q000235:genetics*; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D009460:Neurologic Examination; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*; D013739:Testosterone / Q000097:blood
chemical_list: D007987:Gonadotropin-Releasing Hormone; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone