title: Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome?
abstract: We describe 3 sibs, their father, and paternal grandfather with amelogenesis imperfecta. In 2 sibs and the father the defect is associated with a neurological syndrome which has a wide range of phenotypic variability. The proposita has ataxia, EEG abnormalities, moderate dementia, and enamel hypoplasia. This case and the affected relatives are discussed in relation to Kohlschütter-Tönz syndrome and neuroectodermal diseases. The syndrome described here, characterized by the association of a genetic enamel defect and neurological impairment, may be of considerable interest in advancing genetic and clinical knowledge on ectodermal tissues and their development.
authors.affiliation: Institute of Neurological Sciences, University of Siena, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Guazzi
authors.forename: S
authors.initials: S
authors.lastname: Palmeri
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: G
authors.initials: G
authors.lastname: Ciacci
authors.forename: R
authors.initials: R
authors.lastname: Di Perri
authors.forename: G
authors.initials: G
authors.lastname: Mancini
authors.forename: C
authors.initials: C
authors.lastname: Messina
authors.forename: C
authors.initials: C
authors.lastname: Salvadori
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000567:Amelogenesis Imperfecta / Q000235:genetics*; D001259:Ataxia / Q000235:genetics; D001921:Brain / Q000002:abnormalities; D003704:Dementia / Q000235:genetics; D003744:Dental Enamel Hypoplasia / Q000235:genetics; D004827:Epilepsy / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008279:Magnetic Resonance Imaging; D010375:Pedigree; D013577:Syndrome