Caytaxin is a highly-conserved protein, which is encoded by the Atcay/ATCAY gene. Mutations in Atcay/ATCAY have been identified as causative of cerebellar disorders such as the rare hereditary disease Cayman ataxia in humans, generalized dystonia in the dystonic (dt) rat, and marked motor defects in three ataxic mouse lines. While several lines of evidence suggest that Caytaxin plays a critical...

Abnormal dopamine neurotransmission is associated with many different genetic and acquired dystonic disorders. For instance, mutations in genes critical for the synthesis of dopamine, including GCH1 and TH cause l-DOPA-responsive dystonia. Despite evidence that implicates abnormal dopamine neurotransmission in dystonia, the precise nature of the pre- and postsynaptic defects that result in dyst...

OBJECTIVE To review the clinical characteristics and associated features found in patients with psychogenic dystonia. METHODS A 10 year retrospective chart review of all patients diagnosed by the author as having psychogenic dystonia. RESULTS Eighteen patients fulfilled diagnostic criteria for "Documented" or "Clinically Established" psychogenic dystonia. Clinical characteristics of the dys...

AIMS To study the association of pain with motor complications in 117 patients with Parkinson's disease. METHODS Patients were asked to refer any pain they experienced at the time of study and lasting since at least 2 months. Basic parkinsonian signs and motor complications (including motor fluctuations and dyskinesia) were assessed and Unified Parkinson's Disease Rating Scale (UPDRS) motor s...

In addition to exacerbating morbidity in male coronary artery bypass surgery (CABS) patients, their plight can also impose considerable strain on their female spouses' mood states, resulting in compromised quality of life. The current study was aimed at determining the impact of pre postoperative hypnotherapeutic ego strengthening (HES) on anxiety and depression in female spouses. It was conduc...

Dystonia is a neurological disorder characterized by intermittent or sustained muscle contractions that cause abnormal, usually repetitive, movements and postures. Dystonic movements can be tremulous and twisting and often follow a pattern. They are frequently associated with overflow muscle activation and may be triggered or worsened by voluntary action. Most voluntary muscles can be affected ...

UNLABELLED The purpose of this study was to investigate whether (18)F-FDG PET/CT is useful for localizing dystonic cervical muscles in patients with idiopathic cervical dystonia (ICD) by comparing disease severity before and disease severity after botulinum toxin (BT) injection into hypermetabolic muscles. METHODS Six patients with ICD underwent (18)F-FDG PET/CT. Dystonic muscles suitable for...

The pathophysiology of idiopathic dystonic torticollis is unclear and there is no simple test that confirms the diagnosis and excludes a psychogenic or voluntary torticollis in individual patients. We recorded EMG activity in the sternocleidomastoid (SCM) and splenius capitis (SPL) muscles of eight patients with rotational torticollis and eight age-matched controls, and analysed the signals in ...

Wilson disease (WD) is a rare genetic disorder characterized by copper overload in the liver and the brain. Neurological presentations are mainly related to the accumulation of copper in the basal ganglia, the brainstem, and the cerebellum. Dysarthria is a frequent symptom, with dystonic, spastic, or parkinsonian components and is usually resistant to medical or voice rehabilitation therapies. ...

Dystonia, an uncommon movement disorder that causes sustained muscle contractions and painful body positions, is a difficult diagnostic challenge; misdiagnosis is common. Classification may include etiology, area of physical involvement, or age of onset. Bodily distribution is varied, and dystonias can present as primary (genetic) or secondary (caused by other disease processes or use of neurol...