Neurologic presentation in children with ataxia-telangiectasia: Is small head circumference a hallmark of the disease?

Andreea Nissenkorn, Yonit Banet Levi, Daphna Vilozni, Yakov Berkun, Ori Efrati, Moshe Frydman, Jacob Yahav, Dalia Waldman, Raz Somech, Efrat Shenhod, Shay Menascu, Bruria Ben-Zeev

Research output: Contribution to journalArticlepeer-review

Abstract

Objective: To define the neurologic characteristics and course of ataxia-telangiectasia (A-T). Study design: 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.

Original languageEnglish
Pages (from-to)466-471.e1
JournalJournal of Pediatrics
Volume159
Issue number3
DOIs
StatePublished - Sep 2011
Externally publishedYes

Fingerprint

Dive into the research topics of 'Neurologic presentation in children with ataxia-telangiectasia: Is small head circumference a hallmark of the disease?'. Together they form a unique fingerprint.

Cite this