Non-DYT1 early-onset primary torsion dystonia: Comparison with DYT1 phenotype and review of the literature
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چکیده
منابع مشابه
Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.
To investigate the clinical features of early-onset primary torsion dystonia (EO-PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disease duration, site of dystonia onset and distribution at latest examination, dystonia progression, time to generalization, and motor disability were note...
متن کاملearly-onset primary dystonia (dyt1)
dystonia is a movement disorder that causes sustained muscle contractions, repetitive twisting movements, and abnormal postures of the trunk, neck, face, or arms and legs. inherited dystonias can be classified as primary dystonia, dystonia-plus, heredo-degenerative dystonia, and paroxysmal dyskinesias with dystonia. the primary dystonias are those with no other neurologic abnormalities. primary...
متن کاملTransgenic mouse model of early-onset DYT1 dystonia.
Early-onset dystonia is an autosomal dominant movement disorder associated with deletion of a glutamic acid residue in torsinA. We generated four independent lines of transgenic mice by overexpressing human DeltaE-torsinA using a neuron specific enolase promoter. The transgenic mice developed abnormal involuntary movements with dystonic-appearing, self-clasping of limbs, as early as 3 weeks aft...
متن کاملThe TOR1A (DYT1) gene family and its role in early onset torsion dystonia.
Most cases of early onset torsion dystonia are caused by a 3-bp deletion (GAG) in the coding region of the TOR1A gene (alias DYT1, DQ2), resulting in loss of a glutamic acid in the carboxy terminal of the encoded protein, torsin A. TOR1A and its homologue TOR1B (alias DQ1) are located adjacent to each other on human chromosome 9q34. Both genes comprise five similar exons; each gene spans a 10-k...
متن کاملdyt1 mutations in primary torsion dystonia in iranian population
early-onset, generalized primary torsion dystonia (ptd) is an autosomal dominant disorder, characterized by involuntary movements and abnormal postures. the majority of cases are caused by a 3-bp deletion (gag deletion at position 946) in the dyt1 gene on chromosome 9q34 that allows for specific genetic testing. forty eight patients with early onset primary torsion dystonia were screened for th...
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ژورنال
عنوان ژورنال: Movement Disorders
سال: 2006
ISSN: 0885-3185,1531-8257
DOI: 10.1002/mds.21000