title: Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease?
abstract: OBJECTIVE
  To define the neurologic characteristics and course of ataxia-telangiectasia (A-T).
  
  
  METHODS
  Retrospective cross-sectional chart study of 57 children (ages 2 to 19 years) followed at an A-T clinic. Cerebellar and extracerebellar symptoms were graded according to degree of functional impairment. Head circumferences were plotted from the charts and z-scores were calculated and compared with that of family members.
  
  
  RESULTS
  Ataxia was present in 87.7%, followed by dysarthria (82.1%), dysmetria (75.4%), bradykinesia (69.2%), hyperkinetic movements (58.9%), and dystonia (15.8%). All features aggravated with age. The most striking clinical observation in our patients was low head circumference (z-score below 1), which was present in 60.9%; 17% had true microcephaly (z-score below 2). Microcephaly appeared postnatally, was proportionate to height and weight, and did not correlate with severity of ataxia or genotype.
  
  
  CONCLUSIONS
  In addition to cerebellar ataxia, extrapyramidal symptoms, especially bradykinesia, were frequent and disabling. Microcephaly is an integral part of A-T; understanding its pathogenesis may shed light on the mechanism by which ATM mutation causes dysfunction in the nervous system.
authors.affiliation: National A-T Clinic, Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel. Andreea.Nissenkorn@sheba.health.gov.il
authors.forename: Andreea
authors.initials: A
authors.lastname: Nissenkorn
authors.forename: Yonit Banet
authors.initials: YB
authors.lastname: Levi
authors.forename: Daphna
authors.initials: D
authors.lastname: Vilozni
authors.forename: Yakov
authors.initials: Y
authors.lastname: Berkun
authors.forename: Ori
authors.initials: O
authors.lastname: Efrati
authors.forename: Moshe
authors.initials: M
authors.lastname: Frydman
authors.forename: Jacob
authors.initials: J
authors.lastname: Yahav
authors.forename: Dalia
authors.initials: D
authors.lastname: Waldman
authors.forename: Raz
authors.initials: R
authors.lastname: Somech
authors.forename: Efrat
authors.initials: E
authors.lastname: Shenhod
authors.forename: Shay
authors.initials: S
authors.lastname: Menascu
authors.forename: Bruria
authors.initials: B
authors.lastname: Ben-Zeev
mesh_terms: D000293:Adolescent; D000375:Aging; D001260:Ataxia Telangiectasia / Q000453:epidemiology* / Q000235:genetics; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D004401:Dysarthria / Q000453:epidemiology / Q000209:etiology; D020820:Dyskinesias / Q000453:epidemiology / Q000209:etiology; D005260:Female; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000453:epidemiology*; D009154:Mutation; D015835:Ocular Motility Disorders / Q000453:epidemiology / Q000209:etiology; D012189:Retrospective Studies; D012720:Severity of Illness Index; D055815:Young Adult