Partial trisomy 4q associated with young-onset dopa-responsive parkinsonism.

in Archives of Neurology (2012), 69(3), 398-400

OBJECTIVE: To describe a patient who developed a young-onset, dopa-responsive parkinsonism linked to a de novo heterozygous interstitial duplication 4q. DESIGN: Case report. SETTING: Movement Disorder ... [more ▼]

OBJECTIVE: To describe a patient who developed a young-onset, dopa-responsive parkinsonism linked to a de novo heterozygous interstitial duplication 4q. DESIGN: Case report. SETTING: Movement Disorder Outpatient Clinic at the University Hospital Centre, Liege, Belgium. Patient A 31-year-old woman. MAIN OUTCOME MEASURES: Clinical, neuroimaging, and genetic data. RESULTS: The duplicated region contains 150 known genes, including the alpha-synuclein (SNCA) gene locus. Motor and 6-[(18)F]fluoro-L-dopa positron emission tomography features are similar to those previously reported in heterozygote SNCA duplication carriers. Altered expression of other genes contained in the duplicated region may contribute to clinical features that are uncommon in the phenotypic spectrum of SNCA multiplications such as delayed developmental psychomotor milestones during infancy and musculoskeletal abnormalities. CONCLUSION: This case report provides new insights on the genetic basis of parkinsonism. [less ▲]

Métastase septique dorsale secondaire d’un abcès rétropharyngé responsable d’une tétraparésie

in Revue Neurologique (2011), 167(8-9), 638-640

Introduction: Peri-tonsillar abscess remains one of the most frequent serous complications of oropharyngeal or dental infections. It can evolve to parapharyngeal and/or retropharyngeal spaces. It can be ... [more ▼]

Introduction: Peri-tonsillar abscess remains one of the most frequent serous complications of oropharyngeal or dental infections. It can evolve to parapharyngeal and/or retropharyngeal spaces. It can be life-threatning and, more rarely, neurological complications are described. Observations: We report the case of a 56 year old woman who developed within few days a progressive tetraparesia due to cervical medullary compression. This compression was consecutive to an epidurite which was a complication of a retropharyngeal abscess. The only surgical act was a cervicotomy to drain the abscess and identify the pathological germ. A targeted antibiotherapy was quickly begun. The recovery was obtained rather quickly and the neurological evolution was good. After one year, the cervical spine presents a post-infectious deformation without sign of root or spinal-cord compression. Conclusion: A cervical tetraparesia induced by spondylodiscitis and epiduritis following a retropharyngeal abscess with Staphylococcus aureus is a rare complication. Adequate diagnosis, as fast as possible, is mandatory in order to carry out an adapted antibiotherapy in the hopes of a complete recovery. The place of surgery on the spine remains to be specified. [less ▲]

Réponses « prémotrices » du muscle premier interosseux dorsal de la main

in XVIIèmes Journées Francophones d'Electroneuromyographie (2010, June 11)

Introduction – Lors de l’enregistrement du potentiel global d’action musculaire (PGAM) au niveau du muscle premier interosseux dorsal de la main (PID) après stimulation du nerf ulnaire au poignet, il est ... [more ▼]

Introduction – Lors de l’enregistrement du potentiel global d’action musculaire (PGAM) au niveau du muscle premier interosseux dorsal de la main (PID) après stimulation du nerf ulnaire au poignet, il est habituel d’observer un pic positif initial (pour une amplification d’environ 1 mV par division). Objectif – Déterminer l’origine de cette déflection positive précédant le PAGM du PID lors de la stimulation du nerf ulnaire au poignet. S’agit-il d’une réponse motrice générée au voisinage de l’électrode de détection active (champ proche) ? La positivité signifiant que les plaques motrices, où est générée cette réponse, ne sont pas exactement sous l’électrode active. S’agit-il, au contraire, de la captation d’une activité générée nettement à distance du système de détection (champ lointain) ? La positivité étant alors liée à l’orientation d’un dipôle électrique par rapport au système de détection. Sujets et méthodes - Dix patients successifs, indemnes d’atteinte du nerf ulnaire, sont étudiés. Une électrode active (G1) est placée sur le PID, au sommet de la saillie musculaire provoquée par le rapprochement actif du pouce et de l’index. L’électrode de référence (G2) est placée successivement sur le pouce, l’index, l’auriculaire, l’os trapèze au poignet et sur le membre controlatéral. Une stimulation électrique percutanée est appliquée au nerf ulnaire au poignet. Le muscle abducteur du Vème doigt (AB5) est également étudié (G1 au milieu de l’éminence hypothénar et G2 sur l’auriculaire). Résultats – Le pic positif précédant le PAGM du PID est en moyenne plus ample lorsque l’électrode de référence est placée sur l’index. Le PAGM du PID débute systématiquement par une déflection négative lorsque l’électrode de référence est placée sur l’os trapèze au poignet ou sur le membre controlatéral. L’absence de positivité initiale est associée à un raccourcissement de la latence distale motrice. Lorsque le gain des réponses motrices du PID et de l’AB5 est fixé à 0,1 ou 0,2 mV/division, quel que soit le muscle étudié et quel que soit le montage G1/G2 utilisé, toutes les déflections initiales (positives ou négatives) présentent une latence identique ou presque. Discussion – La déflection positive initiale qui précède le PAGM du PID, lorsque G2 est distale par rapport à la cathode, reflète l’activité générée au niveau des autres muscles innervés par le nerf ulnaire et notamment l’AB5. L’absence de cette positivité, lorsque G2 est proximale à la cathode ou sur le membre controlatéral, est liée à une inversion de polarité de la déflection initiale. Il en résulte, une réduction artificielle de la latence distale motrice. Ce type de référence doit donc être évité dans nos examens de routine. Conclusion – Ce travail souligne d’une part, l’importance de G2 dans l’enregistrement d’un PAGM et d’autre part, que les enregistrements de surface peuvent être influencés par la contraction de muscles situés à distance du couple G1/G2, même si un seul nerf est activé par la stimulation électrique percutanée. [less ▲]

De novo interstitial duplication 4q associated with sporadic young-onset dopa-responsive parkinsonism

in Movement Disorders : Official Journal of the Movement Disorder Society (2009), 24(Suppl. 1), 138-139

Isokinetic strength and fatigability in patients with multiple sclerosis. The relationship between gait speed and isokinetic parameters

in Isokinetics & Exercise Science (2007), 15

Introduction Multiple sclerosis (MS) is a chronic disease characterized by inflammation and demyelisation of the central nervous system. Decline of muscular performances, fatigue, weakness and spasticity ... [more ▼]

Introduction Multiple sclerosis (MS) is a chronic disease characterized by inflammation and demyelisation of the central nervous system. Decline of muscular performances, fatigue, weakness and spasticity are the most common and disabling symptoms characterizing this neurological disease. Undoubtedly, objective assessments of muscle function would be relevant to deliver the most appropriate treatment and to appraise possible training effects resulting from rehabilitation. The purposes of this study were to assess muscle strength and fatigue of knee flexors and extensors in patients with multiple sclerosis by means of an isokinetic dynamometer. Relations between isokinetic results and gait speed were also investigated. Methods Eight patients (49 +/- 7 years old) suffering from multiple sclerosis (with unaided gait) were included in this study. Bilateral knee flexor and extensor performances were assessed using a Cybex Norm dynamometer. Maximal isokinetic strength was measured at 60°/s (3 repetitions) and 180°/s (5 repetitions). Thereafter, patients performed a fatigue protocol consisting in 30 successive maximal-intensity knee flexions and extensions at 180°/s angular velocity. Fatigue was analysed using the cumulative work parameter (corresponding to the sum of work developed through the 30 movements) and a fatigue index (ratio between work developed during 3 last contractions and 3 first contractions). Gait speeds corresponded to the time necessary to subject for walking at maximal speed on a 7.62 m and 100 m long walkway. Results Isokinetic parameters (strength and fatigue) appeared to be decreased in MS patients comparatively to normative data [1]. Knee flexors/extensors ratio was reduced for some patients, yet MS subjects displayed no significant bilateral asymmetry, suggesting a bilateral weakness process. Significant negative correlations (- 0.76 < r < - 0.95, p < 0.05) between gait speeds (measured through a 7.62 m and 100 m long walkway) and hamstring isokinetic parameters (peak torque and cumulative work) were observed. In contrast, we did not find any correlation between gait speed and quadriceps isokinetic performances, except for the correlation between gait speed on 100 m long walkway and fatigue index (0.78 < r < 0.89, p < 0.05). Discussion and conclusion Objective evaluation of muscle performance deficiencies in patients with MS appears essential for designing a successful rehabilitation program. However, no consensus has been established with regard to the most relevant isokinetic protocol modalities for assessing patients suffering form central nervous system lesions. Our preliminary results underlined that gait speed was negatively correlated to hamstring isokinetic parameters (strength and cumulative work). Interestingly, no patient included in our study reported increased symptoms such as spasticity during or after the test, indicating that MS patients are able to perform strength and fatigue isokinetic assessments. References [1] Maquet D, Croisier JL, Renard C, Crielaard JM. Muscle performance in patients with fibromyalgia, Joint Bone Spine 69 :293-9, 2002. [less ▲]

L’enregistrem ent des potentiels évoqués somesthésiques dans le territoire du nerf fém oro-cutané latéral

in Correspondances en Nerf & Muscle (2006)

Observation n°5 (cas particulier de Parsonage & Turner)

in Correspondances en Nerf & Muscle (2005, June), (Numéro spécial), 20-23

Diagnostic différentiel des myotonies : à propos d’un cas

Conference (2001)

MADSAM post-traumatique

Conference (2001)

Cerebral Glucose Utilization During Stage 2 Sleep in Man

in Brain Research (1992), 571(1), 149-53

Using [18F]fluorodeoxyglucose method and positron emission tomography, we performed paired determinations of the cerebral glucose utilization at one week intervals during sleep and wakefulness, in 12 ... [more ▼]

Using [18F]fluorodeoxyglucose method and positron emission tomography, we performed paired determinations of the cerebral glucose utilization at one week intervals during sleep and wakefulness, in 12 young normal subjects. During 6 of 28 sleep runs, a stable stage 2 SWS was observed that fulfilled the steady-state conditions of the model. The cerebral glucose utilization during stage 2 SWS was lower than during wakefulness, but the variation did not significantly differ from zero (mean variation: -11.5 +/- 25.57%, P = 0.28). The analysis of 89 regions of interest showed that glucose metabolism differed significantly from that observed at wake in 6 brain regions, among them both thalamic nuclei. We conclude that the brain energy metabolism is not homogeneous throughout all the stages of non-REMS but decreases from stage 2 SWS to deep SWS; we suggest that a low thalamic glucose metabolism is a metabolic feature common to both stage 2 and deep SWS, reflecting the inhibitory processes observed in the thalamus during these stages of sleep. Stage 2 SWS might protect the stability of sleep by insulating the subject from the environment and might be a prerequisite to the full development of other phases of sleep, especially deep SWS. [less ▲]