A gene (DYT1) for early onset idiopathic torsion dystonia was mapped to chromosome 9q34 in non-Jewish and Jewish families. The DYT1 gene region has been excluded in other families with adult onset and cervical or cranial onset idiopathic torsion dystonia from the United States, Great Britain, and France. The role of DYT1 in a Swedish family with adult onset idiopathic torsion dystonia in four g...

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...

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 recrui...

INTRODUCTION Early onset isolated dystonia (DYT1) is linked to a three base pair deletion (ΔGAG) mutation in the TOR1A gene. Clinical manifestation includes intermittent muscle contraction leading to twisting movements or abnormal postures. Neuropathological studies on DYT1 cases are limited, most showing no significant abnormalities. In one study, brainstem intraneuronal inclusions immunoreact...

A mutation in the DYT1 gene on chromosome 9q34 is the commonest cause of young-onset primary dystonia. The penetrance of clinical symptoms is low (only 30-40% of gene carriers manifest dystonia), and occurs in an agedependent fashion. Mutation carriers who pass their mid-twenties without developing symptoms almost invariably stay symptom free for life. DYT1 mutation carriers therefore provide a...

A large non-Jewish Italian family affected by idiopathic torsion dystonia with autosomal dominant transmission and almost complete penetrance is reported. The prevalent phenotype was characterised by early onset with cranial-cervical involvement and progression to a segmental distribution; progression to generalisation was also found. Among 45 people examined, 14 were considered definitely or p...

DYT1 dystonia is an early-onset, hyperkinetic movement disorder caused by a deletion in the gene TOR1A, which encodes the protein torsinA. Several lines of evidence show that in animal models of DTY1 dystonia, there is impaired basal dopamine (DA) release and enhanced acetylcholine tone. Clinically, anticholinergic drugs are the most effective pharmacological treatment for DYT1 dystonia, but th...

objective: to determine the frequency of dyt1 mutation in iranian patients affected with primary dystonia. materials and methods: in this study, we investigated 60 patients with primary dystonia who referred to the tehran medical genetics laboratory (tmgl) to determine the deletional mutation of 904-906 del gag in the dyt1 gene. dna extracted from patients’ peripheral blood was subjected to pcr...

Psychogenic dystonia is a challenging entity to diagnose and treat because little is known about its pathophysiology. We describe two cases of psychogenic dystonia who underwent deep brain stimulation when thought to have organic dystonia. The intraoperative microelectrode recordings in globus pallidus internus were retrospectively compared with those of five patients with known DYT1 dystonia u...

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...