Direct interaction between causative genes of DYT1 and DYT6 primary dystonia
نویسندگان
چکیده
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...
متن کاملNon-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 کاملDeep 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...
متن کاملDYT6 Dystonia: A Neuropathological Study.
BACKGROUND Mutations in the thanatos-associated protein domain containing apoptosis-associated protein 1 gene (THAP1) are responsible for adult-onset isolated dystonia (DYT6). However, no neuropathological studies of genetically proven DYT6 cases have been previously reported. OBJECTIVE We report the first detailed neuropathological investigation carried out on two DYT6 brains. METHODS Gene...
متن کاملAll 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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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 2010
ISSN: 0364-5134
DOI: 10.1002/ana.22138