Dystonia is a hyperkinetic movement disorder characterized by abnormal movement or
posture caused by excessive muscle contraction. Because of its wide clinical spectrum …

Ataxia-telangiectasia or AT is a fatal progressive neurological disease of children. The
symptoms indicate disruptions in the development of such diverse body parts as cerebellum …

Background A minority of breast cancer (BC) patients suffer from severe reaction to adjuvant
radiotherapy (RT). Although deficient DNA double‐strand break repair is considered the …

Ataxia telangiectasia is an autosomal recessive DNA repair disorder characterised by
complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency and …

ATM is an apical kinase of the DNA damage response involved in the repair of DNA double-
strand breaks. Germline ATM variants (gATM) have been associated with an increased risk …

Introduction Besides cerebellar ataxia, various other movement disorders, including
dystonia, could manifest as main clinical symptoms in ataxia-telangiectasia (A–T). However …

DISCUSSION Our case shows that as compared to classic AT, variant AT presents
predominantly as an EP syndrome (isolated dystonia or MD with or without choreoathetosis …

Abstract Background Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD)
is a rare disease with diagnosis offered by the Unified Health System in Brazil. Our aim was …

BACKGROUND Ataxia-telangiectasia (AT) is a rare, neurodegenerative multisystem
disorder with an estimated incidence of 1 in 40,000-100,000 live births [1]. The disease is …

The phenotypic spectrum of ataxia-telangiectasia (AT), a multisystem disorder, is a
continuum ranging from classic AT at the severe end and variant AT at the milder end …