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We report on a 57-year-old woman with frequent and powerful retrocollis. The involuntary movements combined with rheumatoid arthritis and osteoporosis led to a fracture of the axial odontoid process. Neurologists with a focus on movement disorders should screen for diseases putting the patient at risk for spinal lesions and consider early treatment. © 2004 Movement Disorder Society [ABSTRACT FROM AUTHOR]

Reports on a patient, a 32-year old women, who developed severe progressive multifocal leucoencephalopathy (PML) after several years of cyclophosphamide treatment for systemic lupus ertyhematosus (SLE). PML as an opportunistic papovirus (JC virus) infection of the central nervous system; The use of intravenous camptothecin; Conclusion that camptothecin may block viral DNA (JC virus) replication in vitro and in vivo.

Objective: To assess the efficacy of Clostridium botulinum type A toxin-hemagglutinin complex [BoNT-A, Dysport®] in the treatment of adults with adductor muscle spasticity due to definite or probable multiple sclerosis [MS]. Methods: In this 12-week multinational, randomized, double-blind, placebo-controlled trial, patients received a single treatment of either BoNT-A 1,000-1,500 Ipsen units or placebo injected into the adductor muscles of each leg [500-750 Ipsen units per leg]. The primary outcome measure was a novel, patient-selected, functional outcome measure at week 4. Results: Fifty-five subjects were treated with BoNT-A, and 51 received the placebo. Treatment benefit in favor of BoNT-A, which tended toward significance, was seen for most endpoints but not the subjective patient-selected key outcome measure. As with a previous dose-ranging study of BoNT-A, pain was significantly reduced in both legs [P<0.05 at weeks 8 and 12]. Lack of significance for the other endpoints was probably due to the low number of patients who received the full 1,500 Ipsen unit dose of BoNT-A, which has previously been shown to be effective. The majority of adverse events were mild-to-moderate in severity and resolved within a few days. Conclusion: The BoNT-A was shown to provide effective pain relief in patients with severe adductor spasticity due to MS, and the trend toward treatment benefit for the primary endpoint is in line with previously published literature. [ABSTRACT FROM AUTHOR]

As part of the first randomized, sham-timulation controlled trial on deep brain stimulation (DBS) in primary segmental or generalized dystonia, health-related quality of life (HRQoL) was assessed by SF-36. After the 3-month sham-controlled phase, significant HRQoL improvement occurred only in the active-stimulation group. The open-label extension phase resulted in a significant improvement in all SF-36 domains following 6 months of neurostimulation. These results demonstrate a favorable impact of DBS on HRQoL in primary dystonia. © 2007 Movement Disorder Society [ABSTRACT FROM AUTHOR]

Primary dystonias represent a clinically and genetically heterogeneous group of movement disorders. Mutations in the ϵ-sarcoglycan (SGCE) gene have been found recently to cause myoclonus-dystonia (MD). Considerable clinical variation of SGCE mutation carriers leads to the hypothesis that mutations in the SGCE gene might also be relevant for other subtypes of dystonias. To determine the contribution of mutations in the SGCE gene in patients with different subtypes of dystonias, we analyzed the coding sequence of the SGCE gene in a group of 296 patients with a clinical phenotype of primary dystonia and in 2 patients with a clinical phenotype of myoclonus-dystonia. Patients with mutations in the DYT1 gene were excluded. We could not detect a mutation in the SGCE gene in any of the 298 patients. Our results suggest that mutations in the SGCE gene cannot be held responsible for other subtypes of primary dystonia. © 2004 Movement Disorder Society [ABSTRACT FROM AUTHOR]

Spinocerebellar ataxia type 17 (SCA17) is a dominant progressive neurodegenerative disorder, caused by a triplet repeat expansion within the TATA-binding protein. As well as ataxia and dementia, Parkinsonism and dystonia are common in SCA17. In some pedigrees focal dystonia in the absence of ataxia has been described as a main clinical feature. To evaluate the relevance of SCA17 mutations for primary dystonia, we examined the TBP repeat expansion in a series of 288 patients with different subtypes of primary torsion dystonia. We did not find any repeat sizes in the pathogenic range. We conclude that the SCA17 repeat expansion is not a common cause of familial and sporadic dystonia. [ABSTRACT FROM AUTHOR]

Background: Neurostimulation of the internal globus pallidus has been shown to be effective in reducing symptoms of primary dystonia. We compared this surgical treatment with sham stimulation in a randomized, controlled clinical trial. Methods: Forty patients with primary segmental or generalized dystonia received an implanted device for deep-brain stimulation and were randomly assigned to receive either neurostimulation or sham stimulation for 3 months. The primary end point was the change from baseline to 3 months in the severity of symptoms, according to the movement subscore on the Burke–Fahn–Marsden Dystonia Rating Scale (range, 0 to 120, with higher scores indicating greater impairment). Two investigators who were unaware of treatment status assessed the severity of dystonia by reviewing videotaped sessions. Subsequently, all patients received open-label neurostimulation; blinded assessment was repeated after 6 months of active treatment. Results: Three months after randomization, the change from baseline in the mean (±SD) movement score was significantly greater in the neurostimulation group (−15.8±14.1 points) than in the sham-stimulation group (−1.4±3.8 points, P<0.001). During the open-label extension period, this improvement was sustained among patients originally assigned to the neurostimulation group, and patients in the sham-stimulation group had a similar benefit when they switched to active treatment. The combined analysis of the entire cohort after 6 months of neurostimulation revealed substantial improvement in all movement symptoms (except speech and swallowing), the level of disability, and quality of life, as compared with baseline scores. A total of 22 adverse events occurred in 19 patients, including 4 infections at the stimulator site and 1 lead dislodgment. The most frequent adverse event was dysarthria. Conclusions: Bilateral pallidal neurostimulation for 3 months was more effective than sham stimulation in patients with primary generalized or segmental dystonia. (ClinicalTrials.gov number, NCT00142259.) N Engl J Med 2006;355:1978-90. [ABSTRACT FROM AUTHOR]