title: Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome.
abstract: The authors review ataxia telangiectasia, emphasizing historical aspects, genetic discoveries, and the clinical presentations of the classical and atypical forms. In fact, ataxia telangiectasia represents a multisystem entity with pleomorphic neurological and systemic manifestations. ATM syndrome is proposed as a more adequate designation for this entity.
authors.affiliation: Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil. Electronic address: hagteive@mps.com.br.
authors.forename: Hélio A G
authors.initials: HA
authors.lastname: Teive
authors.affiliation: Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.
authors.forename: Adriana
authors.initials: A
authors.lastname: Moro
authors.affiliation: Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.
authors.forename: Mariana
authors.initials: M
authors.lastname: Moscovich
authors.affiliation: Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.
authors.forename: Walter O
authors.initials: WO
authors.lastname: Arruda
authors.affiliation: Movement Disorders Centre, Toronto Western Hospital, Toronto University, Toronto, ON, Canada.
authors.forename: Renato P
authors.initials: RP
authors.lastname: Munhoz
authors.affiliation: Genetika Laboratory, Curitiba, PR, Brazil.
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
authors.affiliation: Neurology Department and McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Ashizawa
mesh_terms: D000818:Animals; D001260:Ataxia Telangiectasia / Q000175:diagnosis* / Q000235:genetics / Q000266:history*; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D039781:PubMed / Q000706:statistics & numerical data
chemical_list: D017346:Protein Serine-Threonine Kinases
keywords: Alpha-fetoprotein; Ataxia-telangiectasia; Cerebellar ataxia; Immunodeficiency; Malignancies; Oculocutaneous telangiectasia