2018 Jan;46:3-8. doi: 10.1016/j.parkreldis.2017.12.009. Epub 2017 Dec 12.

More than ataxia - Movement disorders in ataxia-telangiectasia.

Author information

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil. Electronic address: hagteive@mps.com.br.
Neurology Service, Hospital Universitário, State University of Ponta Grossa, Ponta Grossa, Brazil. Electronic address: chcamargo@uol.com.br.
Movement Disorders Centre, Toronto Western Hospital, Toronto University, Toronto, ON, Canada. Electronic address: renatopuppi@yahoo.com.


Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative disease caused by mutations in the ATM gene with progressive neurological dysfunction, multisystem abnormalities and cancer predisposition. Classically, AT is associated with cerebellar ataxia, oculocutaneous telangiectasia and oculomotor apraxia. The aim of this review is to describe the movement disorders observed in patients with AT. Movement disorders in AT patients described in the literature are reviewed. The selected articles were analyzed with a focus on clinical presentation, presence of movement disorders, and atypical cases or variants of the syndrome. In AT patients, particularly adults, chorea and dystonia are the most common movement disorders, besides cerebellar ataxia. Myoclonus, tremor and parkinsonism have been described less frequently in patients with AT. Archetypal findings, such as oculocutaneous abnormalities may not be uniformly present. AT can present with different movement disorders, in isolation or combined, with or without cerebellar ataxia or oculocutaneous telangiectasias. Neurologists with expertise in movement disorders should be aware of AT when investigating patients with movement disorders of unknown etiology.


Ataxia; Ataxia-telangiectasia; Movement disorders