Cerebellar Involvement in DYT-THAP1 Dystonia.

We report a case of a 51-year-old male DYT-THAP1 mutation carrier with dystonia, who additionally developed ataxia 1.5 years ago. To study cerebellar involvement in our patient, we used a TMS protocol called cerebellar inhibition (CBI). The lack of CBI in our patient strongly suggests cerebellar involvement. According to our findings, cerebellar syndrome may be part of the phenotypical spectrum of DYT-THAP1 mutations.
PMID: 31367947 [PubMed - as supplied by publisher]

Source: Cerebellum - July 30, 2019 Category: Neuroscience Authors: Nikolov P, Hassan SS, Aytulun A, Hartmann CJ, Kohlhase J, Schnitzler A, Albrecht P, Minnerop M, Groiss SJ Tags: Cerebellum Source Type: research