Author information
- 1
- From the Department of Neurology-Pediatric Neurology (N.J.H.v.O., M.A.A.P.W.) and Department of Neurology (N.J.H.v.O., J.v.G., B.P.C.v.d.W.), Donders Institute for Brain, Cognition and Behaviour, Donders Center for Medical Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Neurology (A.H.), Addenbrookes Hospital, Cambridge; Institute of Cancer & Genomic Sciences (A.M.R.T.), University of Birmingham, UK; Department of Internal Medicine (M.v.D.), Radboud University Medical Center, Nijmegen; Department of Pediatric Infectious Diseases and Immunology (C.M.R.W.), Amalia Children's Hospital and Radboud Institute for Molecular Life Sciences, and Department of Pediatrics, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands. nienke.vanos@radboudumc.nl.
- 2
- From the Department of Neurology-Pediatric Neurology (N.J.H.v.O., M.A.A.P.W.) and Department of Neurology (N.J.H.v.O., J.v.G., B.P.C.v.d.W.), Donders Institute for Brain, Cognition and Behaviour, Donders Center for Medical Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Neurology (A.H.), Addenbrookes Hospital, Cambridge; Institute of Cancer & Genomic Sciences (A.M.R.T.), University of Birmingham, UK; Department of Internal Medicine (M.v.D.), Radboud University Medical Center, Nijmegen; Department of Pediatric Infectious Diseases and Immunology (C.M.R.W.), Amalia Children's Hospital and Radboud Institute for Molecular Life Sciences, and Department of Pediatrics, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.
Abstract
OBJECTIVE:
To describe and classify the neurologic trajectories in patients with mild neurologic forms of ataxia telangiectasia (A-T) from the Dutch A-T cohort, combined with patients reported in the literature.
METHODS:
Clinical, genetic, and laboratory data of 14 patients with mild neurologic phenotypes of A-T from the Dutch cohort were analyzed and combined with corresponding data from the literature. A mild neurologic phenotype was defined by a later onset, nonataxia presenting or dominant feature, or slower progression compared to the classic A-T phenotype. Neurologic trajectories were classified based on age at onset, presenting feature, and follow-up data.
RESULTS:
One hundred five patients were included in the study. Neurologic trajectories were categorized into 6 groups: patients with childhood-onset extrapyramidal (EP) features with cerebellar symptoms developing later (group 1; 18 patients), childhood-onset cerebellar symptoms, with EP features developing later (group 2; 35 patients), childhood- to adolescence-onset dystonia, without cerebellar symptoms (group 3; 23 patients), childhood- to adolescence-onset isolated cerebellar symptoms (group 4; 22 patients), childhood- to adult-onset prominent muscle weakness (group 5; 2 patients), and patients with adult-onset EP features, with anterior horn cell disease arising subsequently (group 6; 5 patients).
CONCLUSIONS:
This systematic study of the different motor abnormalities and their course over time in patients with mild phenotypes of A-T, enabled us to recognize 6 essentially different phenotypic patterns. Awareness of these different trajectories of motor abnormalities in milder forms of A-T will contribute to a reduction of diagnostic delay in this severe multisystem disorder.
© 2018 American Academy of Neurology.
- PMID:
- 30504431
- DOI:
- 10.1212/WNL.0000000000006700