Molecular basis of DYT1 and DYT6 primary dystonia in Indian patients

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منابع مشابه

early-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...

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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...

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dyt1 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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All in the blink of an eye: new insight into cerebellar and brainstem function in DYT1 and DYT6 dystonia.

BACKGROUND AND PURPOSE Traditionally dystonia has been considered a disorder of basal ganglia dysfunction. However, recent research has advocated a more complex neuroanatomical network. In particular, there is increasing interest in the pathophysiological role of the cerebellum. Patients with cervical and focal hand dystonia have impaired cerebellar associative learning using the paradigm eyebl...

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Deep brain stimulation of globuspallidusinternus for DYT1 positive primary generalized dystonia

  Background : Deep brain stimulation (DBS) of the globuspallidusinternus (GPi) is recommended as a promising technique for the management of the primary generalized dystonia (PGD) with DYT1 gene mutation. We present the first report of DBS results in Iranian patients with DYT1 positive PGD.   Methods : Nine patients who suffered from severely disabling DYT1 positive PGD consecutively were recr...

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ژورنال

عنوان ژورنال: Molecular Cytogenetics

سال: 2014

ISSN: 1755-8166

DOI: 10.1186/1755-8166-7-s1-p121