Primary torsion dystonia(PTD)is a clinically and genetically heterogeneous movement disorder.At least thirteen different types of dystonia can be distinguished on a genetic basis.~1 The DYT1 gene was first mapped by O...Primary torsion dystonia(PTD)is a clinically and genetically heterogeneous movement disorder.At least thirteen different types of dystonia can be distinguished on a genetic basis.~1 The DYT1 gene was first mapped by Ozelius et al in 1989.~2(Kramer et)al^3 linked the same locus to PTD in 12 Ashkenazi Jewish families in 1990.Most patients with early-onset generalized PTD were caused by the same three base pair(GAG)deletion in the DYT1 gene on chromosome 9q34.^(1,4,5)The product of the gene is a protein called torsinA.~5(Although the)function of this protein is as yet uncertain,it is widely distributed throughout the brain with high levels in the substantia nigra compacta dopamine neurones.展开更多
文摘Primary torsion dystonia(PTD)is a clinically and genetically heterogeneous movement disorder.At least thirteen different types of dystonia can be distinguished on a genetic basis.~1 The DYT1 gene was first mapped by Ozelius et al in 1989.~2(Kramer et)al^3 linked the same locus to PTD in 12 Ashkenazi Jewish families in 1990.Most patients with early-onset generalized PTD were caused by the same three base pair(GAG)deletion in the DYT1 gene on chromosome 9q34.^(1,4,5)The product of the gene is a protein called torsinA.~5(Although the)function of this protein is as yet uncertain,it is widely distributed throughout the brain with high levels in the substantia nigra compacta dopamine neurones.
