Genetic advances in dystonia based on classification of clinical characteristics / 中华神经科杂志

ABSTRACT

In 2013,consensus on the phenomenology and classification of dystonia was updated and dystonia was classified into isolated dystonia and combined dystonia according to whether combined with other movement disorders.Up to now,the genes for isolated dystonia include TOR1A,THAP1,ANO3,GNAL,TUBB4A,and newly reported HPCA and COL6A3.As for the combined dystonia,genes for dystonia plus myoclonus include SGCE,CACNA1B,KCTD17,guanosine triphosphate cyclohydrolase 1 and tyrosine hydroxylase;genes for dystonia plus parkinsonism include TAF 1,GCH 1,TH,ATP1A3,PRKRA.Based on the clinical features of dystonia,a comprehensive review of related genes is helpful for its accurate diagnosis.