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The clinical diagnosis of multiple system atrophy (MSA) is fraught with difficulty and there are no pathogno-monic features to discriminate the parkinsonian variant (MSA-P) from Parkinson's disease (PD). Besides the poor response to levodopa, and the additional presence of pyramidal or cerebel-lar signs (ataxia) or autonomic failure as major diagnostic(More)
BACKGROUND Multiple system atrophy (MSA) is a fatal and still poorly understood degenerative movement disorder that is characterised by autonomic failure, cerebellar ataxia, and parkinsonism in various combinations. Here we present the final analysis of a prospective multicentre study by the European MSA Study Group to investigate the natural history of(More)
We present the efficacy and side effects of bilateral deep brain stimulation (DBS) of the subthalamic nuclei (STN) performed with a more simplified surgical procedure than described by the Grenoble group. A consecutive series of 26 patients with advanced and levodopa-responsive Parkinson's disease and motor complications was evaluated using the Unified(More)
Direct genomic DNA sequencing fails to detect epsilon-sarcoglycan (SGCE) mutations in up to 30% of familial myoclonus-dystonia (M-D) cases. We identified novel large heterozygous deletions of SGCE exon 5 or exon 6 in two M-D pedigrees. Like nonsense mutations, exon rearrangements result in the generation of premature stop codons downstream of the deleted(More)
Myoclonus-dystonia (M-D, DYT11) is a dystonia plus syndrome characterized by brief myoclonic jerks predominantly of neck and upper limbs in combination with focal or segmental dystonia. It is caused by heterozygous mutations of the epsilon-sarcoglycan (SGCE) gene on chromosome 7q21.3. We present three patients with heterozygous large deletions in the(More)
Most Parkinson's patients complain about sleep problems. The subjective effect of deep brain stimulation (DBS) of the subthalamic nucleus (STN) on nocturnal disabilities and sleep quality was elucidated by the recently established Parkinson's disease sleep scale (PDSS). The DBS-treated group obtained significant improvement of motor function assessed by the(More)
We describe intermittent or sustained severe involuntary tongue protrusion in patients with a dystonic syndrome. Speech, swallowing, and breathing difficulties can be severe enough to be life threatening. Causes include neuroacanthocytosis, pantothenate kinase-associated neurodegeneration, Lesch-Nyhan syndrome, and postanoxic and tardive dystonia. The(More)
BACKGROUND GTP cyclohydrolase 1 (GTP-CH1), the rate-limiting enzyme in the synthesis of tetrahydrobiopterin (BH4), encoded by the GCH1 gene, has been implicated in the development and maintenance of inflammatory pain in rats. In humans, homozygous carriers of a "pain-protective" (PP) haplotype of the GCH1 gene have been identified exhibiting lower pain(More)
Autonomic functions were studied after withdrawal of all medication in parkinsonian out-patients with short and long duration of disease and in age-matched healthy control subjects. Vagal heart control and noradrenergic response to standing were impaired and related to duration of symptoms of idiopathic parkinsonism. Cholinergic function of pupil motility(More)
We present a hybrid CMOS-based microfluidic system that combines magnetic actuation of microparticles with in situ optical detection using single photon avalanche diodes (SPADs). The decoupling of the principles used for actuation and sensing permits a high sensitivity with respect to detection and particle handling. Single magnetic microparticles are(More)