Ataxia telangiectasia like disorder: Another dopa-responsive disorder look-alike?

Ataxia-telangiectasia-like disorder (ATLD) is an autosomal recessive, very rare genetic disease causing ataxia, oculomotor apraxia and slow deterioration in cognition (Palmeri et al 2013; Fernet et al 2005). Magnetic resonance imaging shows cerebellar atrophy (Palmeri et al 2013; Uchisaka et al, 2009). The risk of developing cancer is low compared to ataxia-telangiectasia (AT), however, cases with lung adenocarcinoma were reported (Uchisaka et al, 2009). As far as we know, there is no levodopa trial in the presented ATLD cases whereas levodopa responsive dystonia was described in ataxia telangiectasia (AT) [3,4].

Source: Parkinsonism and Related Disorders - April 2, 2020 Category: Neurology Authors: Merve Hazal Ser, Ay şegül Gündüz, Meral E. Kızıltan, Güneş Kızıltan, Şeyma Tekgül, A. Nazlı Başak Tags: Correspondence Source Type: research