Dystonia of the soft palate: Mutation of the THAP1 (DYT6) gene in a 42-year-old patient

International audienc

Dystonia of the soft palate: Mutation of the THAP1 (DYT6) gene in a 42-year-old patient

International audienc

Proprioceptive impairment and postural orientation control in Parkinson’s disease

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Postural control and sensory integration in cervical dystonia

International audiencePostural control and sensory integration were assessed in 12 patients with Cervical Dystonia (CD) and 11 healthy control subjects (CS), who were asked to maintain their posture as vertical as possible with their eyes open and closed while standing on a platform tilting laterally at angular accelerations below the vestibular activation threshold

Prevalence and characterisation of vocal fold motion impairment (VFMI) in patients with Multiple system atrophy compared with Parkinson's disease

International audienceIntroduction: Multiple system atrophy (MSA) is a neurodegenerative disorder in which vocal fold mobility can be affected, sometimes leading to life-threatening situations. Our aim was to know if laryngeal examination could help differentiate MSA from Parkinson's disease (PD).Materials and methods: Between 2004 to 2014, all consecutive patients diagnosed with probable MSA were included in this retrospective, monocentric study. Flexible laryngoscopy was obtained in 51 MSA patients and compared with 27 patients with Parkinson's disease (PD). Laryngeal muscles EMG was available in 6 MSA patients.Results: Vocal fold motion impairments (VFMI) was found in 35 (68.6%) MSA patients: 15 (29.4%) had uni- or bilateral vocal fold abnormal movement (VFAM), 13 (25.5%) had uni- or bilateral vocal fold abductor paresis (VFABP), 4 (7.8%) had uni- or bilateral vocal fold adductor paresis (VFADP), 10 (19.6%) had bilateral vocal fold paralysis (BVFP). VFMI was found in 13 PD patients (48.1%) all of whom had VFADP. Presence of BVFP was found associated with stridor (P<0.001) and dysphagia (P=0.002). In all muscles examined in 6 MSA patients, the EMG showed neuropathic patterns.Conclusions: Our data support that VFMI may be encountered in two-thirds of MSA with a variable degree of gravity. Laryngological examination should be considered as a supplementary tool for the diagnosis and prognosis of MSA. VFMI in particular VFAM, VFABD and BVFP should be discussed as an additional possible red flag even at an early stage of MSA and could help discriminate MSA from PD

How satisfied are cervical dystonia patients after 3 years of botulinum toxin type A treatment? Results from a prospective, long-term observational study

Background Patients with cervical dystonia (CD) typically require regular injections of botulinum toxin to maintain symptomatic control. We aimed to document long-term patient satisfaction with CD symptom control in a large cohort of patients treated in routine practice. Methods This was a prospective, international, observational study (NCT01753349) following the course of adult CD treated with botulinum neurotoxin type A (BoNT-A) over 3 years. A comprehensive clinical assessment status was performed at each injection visit and subjects reported satisfaction in two ways: satisfaction with symptom control at peak effect and at the end of treatment cycle. Results Subject satisfaction remained relatively stable from the first to the last injection visit. At 3 years, 89.9% of subjects reported satisfaction with symptom control at peak effect and 55.6% reported satisfaction with symptom control at end of treatment cycle. By contrast, objective ratings of CD severity showed an overall reduction over 3 years. Mean ± SD Toronto Western Spasmodic Rating Scale (TWSTRS) Total scores (clinician assessed at end of treatment cycle) decreased from 31.59 ± 13.04 at baseline to 24.49 ± 12.43 at 3 years (mean ± SD reduction from baseline of − 6.97 ± 11.56 points). Tsui scale scores also showed gradual improvement; the percent of subjects with a tremor component score of 4 reduced from 12.4% at baseline to 8.1% at 3 years. Conclusions Despite objective clinical improvements over 3 years, subject satisfaction with symptom control remained relatively constant, indicating that factors other than symptom control also play a role in patient satisfaction

A neuro-phenomenological study of epileptic seizure anticipation

International audienceThis article sets out to retrace the course of a neuro-phenomenological project initiated by Francisco Varela, the purpose of which is anticipating epileptic seizure, while trying to evaluate the relevance of the neuro-phenomenological approach from the methodological, therapeutic and epistemological viewpoints. New mathematical methods for analysing the neuro-electric activity of the brain have recently enabled researchers to detect subtle modifications of the cerebral activity a few minutes before the onset of an epileptic seizure. Do these neuro-electric changes correspond to modifications in the patients' subjective experience, and if that is the case, what are they? In a first part, after having recalled the context of the project, I will describe the methods I used for trying to detect the dynamic micro-structure of preictal experience, the difficulties I met and the results I obtained. Then I will show how this "pheno-dynamic" analysis and neuro-dynamic analysis have guided, determined and mutually enriched each other throughout this project. In a third part, I will show that this genetic approach to epileptic seizure opens a new line of research into a cognitive and non pharmacological therapy of epilepsy. Finally, I will argue through this example that neuro-phenomenological co-determination could shed new light on the difficult problem of the "gap" which supposedly separates subjective experience from neurophysiological activity