BACKGROUND Dystonia, cerebellar atrophy, and cardiomyopathy constitute a rare association. METHODS We used homozygosity mapping and whole exome sequencing to determine the mutation, western blot and immunolabelling on cultured fibroblasts to demonstrate the lower expression and the mislocalization of the protein. RESULTS We report on a boy born from consanguineous healthy parents, who prese...

Introduction Hereditary dystonia is a neurological movement disorder where the subjects have abnormal motions due to muscle contractions [1]. Only a subset of the patients who carry the gene show the overt symptoms [2]. Although the pathology is not completely understood, purkinje cells, basal ganglia and part of the motor circuit are all implicated in this disorder [3, 4]. According to the dif...

In the last few centuries, there has been a constant sway between organic and psychogenic explanations for dystonia. In the current study, we investigate this history, assuming the perspective of a spectrum from organic to psychogenic, between which ideas were moving. We have focussed on (i) primary generalized dystonia, (ii) cervical dystonia, (iii) writer's cramp and (iv) fixed dystonia relat...

We describe the clinical features of 103 patients presenting with fixed dystonia and report the prospective assessment and investigation of 41 of them. Most patients were female (84%) and had a young age of onset [mean 29.7 (SD 13.1) years]. A peripheral injury preceded onset in 63% and spread of dystonia to other body regions occurred in 56%. After an average follow-up of 3.3 years (overall di...

Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body. A US study estimated the prevalence at approximately 1 in 30,000. The estimated prevalence in the general population of Europe seems to be lower, ranging from 1 in 330,000 to 1 in 200,000, although precise nu...

The authors report the results of long-term bilateral high-frequency pallidal stimulation in two patients affected by neuroleptic-induced dystonia. The first patient, a 33-year-old man, experienced a dystonic posture of the trunk, with involvement of the neck and upper and lower limbs after 11 years of treatment with neuroleptic drugs. The second patient, a 30-year-old man, presented with a tor...