Abnormal cerebellar function and tremor in a mouse model for non‐manifesting partially penetrant dystonia type 6

Abstract excerpt

Key points Loss‐of‐function mutations in the Thap1 gene cause partially penetrant dystonia type 6 (DYT6). Some non‐manifesting DYT6 mutation carriers have tremor and abnormal cerebello‐thalamo‐cortical signalling. We show that Thap1 heterozygote mice have action tremor, a reduction in cerebellar neuron number, and abnormal electrophysiological signals in the remaining neurons. These results underscore the...

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