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Despite its dominant inheritance, a homozygous mutation in THAP1 has been described in a consanguineous family with generalized dystonia Schneider et al. , 2011. Since almost each case bears a unique mutation, molecular diagnosis requires direct sequencing of the whole THAP1 coding region. Recently, thanks to the advent of Whole Exome Sequencing WES technology, four new genes have been implicated as causative of AD focal/segmental dystonia. In one large Australian family with fully penetrant juvenile adult onset whispering dysphonia, occasional generalization and alcohol benefit Wilcox et al. , 2011, the p. R2G mutation in the TUBB4a gene DYT4, encoding the isoform a of b Tubulin has been identified by exome sequencing Hersheson et al. , 2012. Molecular screening of 394 phenotypically similar patients identified a novel mutation p. A271T in one case Lohmann et al. , 2013.
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