Publications by authors named "Elodie Hainque"

21 Publications

  • Page 1 of 1

Long-term effect of apomorphine infusion in advanced Parkinson's disease: a real-life study.

NPJ Parkinsons Dis 2021 Jun 11;7(1):50. Epub 2021 Jun 11.

Neurology Department, Pitié-Salpêtrière Hospital, AP-HP, Paris, France.

Long-term effects of continuous subcutaneous apomorphine infusion (CSAI) on health-related quality of life (HRQoL) and predictors of CSAI discontinuation are poorly known. Data from consecutive advanced Parkinson's disease patients treated in routine care were retrospectively collected over 24 months after CSAI initiation, with a focus on the 39-item Parkinson's disease questionnaire (PDQ-39). We determined predictors of CSAI discontinuation and HRQoL improvement using multiple regression analysis. Of the 110 subjects evaluated over a 2-year period, 35% discontinued CSAI. Of those who continued treatment, HRQoL remained stable with a sustained reduction in motor fluctuations. The observed effect on dyskinesias was mild and transient. Of note, patients with preexisting impulse control disorders showed an overall good tolerability. PDQ-39 was the only baseline predictor of HRQoL improvement after 2 years of treatment. The presence of dyskinesias, poorer psychological status, shorter disease duration, male sex, and worse OFF state were predictors of discontinuation. Best candidates for CSAI are patients with: (i) poor baseline HRQoL and (ii) marked motor fluctuations.
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http://dx.doi.org/10.1038/s41531-021-00194-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8196159PMC
June 2021

Personality dimensions of patients can change during the course of parkinson's disease.

PLoS One 2021 7;16(1):e0245142. Epub 2021 Jan 7.

Toulouse NeuroImaging Center, University of Toulouse, Inserm, UPS, Toulouse, France.

Background: Studies assessing personality dimensions by the "Temperament and Character Inventory" (TCI) have previously found an association between Parkinson's disease (PD) and lower Novelty Seeking and higher Harm Avoidance scores. Here, we aimed to describe personality dimensions of PD patients with motor fluctuations and compare them to a normative population and other PD populations.

Methods: All PD patients awaiting Deep Brain Stimulation (DBS) answered the TCI before neurosurgery. Their results were compared to those of historical cohorts (a French normative population, a de novo PD population, and a PD population with motor fluctuations).

Results: Most personality dimensions of our 333 included PD patients with motor fluctuations who are candidates for DBS were different from those of the normative population and some were also different from those of the De Novo PD population, whereas they were similar to those of another population of PD patients with motor fluctuations.

Conclusions: During the course of PD, personality dimensions can change in parallel with the development of motor fluctuations, either due to the evolution of the disease and/or dopaminergic treatments.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0245142PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7790271PMC
May 2021

Antisaccade, a predictive marker for freezing of gait in Parkinson's disease and gait/gaze network connectivity.

Brain 2021 03;144(2):504-514

Sorbonne Université, UMR S 1127, Inserm U 1127, and CNRS UMR 7225, and Institut du Cerveau et de la Moelle épinière, F-75013, Paris, France.

Freezing of gait is a challenging sign of Parkinson's disease associated with disease severity and progression and involving the mesencephalic locomotor region. No predictive factor of freezing has been reported so far. The primary objective of this study was to identify predictors of freezing occurrence at 5 years. In addition, we tested whether functional connectivity of the mesencephalic locomotor region could explain the oculomotor factors at baseline that were predictive of freezing onset. We performed a prospective study investigating markers (parkinsonian signs, cognitive status and oculomotor recordings, with a particular focus on the antisaccade latencies) of disease progression at baseline and at 5 years. We identified two groups of patients defined by the onset of freezing at 5 years of follow-up; the 'Freezer' group was defined by the onset of freezing in the ON medication condition during follow-up (n = 17), while the 'non-Freezer' group did not (n = 8). Whole brain resting-state functional MRI was recorded at baseline to determine how antisaccade latencies were associated with connectivity of the mesencephalic locomotor region networks in patients compared to 25 age-matched healthy volunteers. Results showed that, at baseline and compared to the non-Freezer group, the Freezer group had equivalent motor or cognitive signs, but increased antisaccade latencies (P = 0.008). The 5-year course of freezing of gait was correlated with worsening antisaccade latencies (P = 0.0007). Baseline antisaccade latencies was also predictive of the freezing onset (χ2 = 0.008). Resting state connectivity of mesencephalic locomotor region networks correlated with (i) antisaccade latency differently in patients and healthy volunteers at baseline; and (ii) the further increase of antisaccade latency at 5 years. We concluded that antisaccade latency is a predictive marker of the 5-year onset of freezing of gait. Our study suggests that functional networks associated with gait and gaze control are concurrently altered during the course of the disease.
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http://dx.doi.org/10.1093/brain/awaa407DOI Listing
March 2021

Whispering dysphonia in TUBB4A-related disorders responsive to bipallidal deep brain stimulation.

Eur J Neurol 2021 Mar;28(3):1082-1083

Département de Neurologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France.

Background: Mutations in TUBB4A are associated with a wide phenotypic spectrum including generalized dystonia with whispering dysphonia (DYT-TUBB4A).

Methods: We report the case of a 44-year-old patient with DYT-TUBB4A with a clinical presentation of disabling progressive dystonia, with a prominent laryngeal, cervical and facial involvement.

Results: Bipallidal deep brain stimulation (DBS) resulted in a 55% reduction of dystonia severity assessed by the Burke-Fahn-Marsden scale score 6 months after surgery. The effect was obvious on the cervical and facial components of dystonia.

Conclusion: We suggest that bipallidal DBS should be considered in patients with disabling dystonia related to TUBB4A variants.
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http://dx.doi.org/10.1111/ene.14602DOI Listing
March 2021

Impact of Subthalamic Deep Brain Stimulation on Impulse Control Disorders in Parkinson's Disease: A Prospective Study.

Mov Disord 2021 03 6;36(3):750-757. Epub 2020 Oct 6.

Department of Neurology, NS-PARK/F-CRIN, Assistance Publique - Hôpitaux de Paris (APHP), Pitié-Salpêtrière Hospital, Paris, France.

Background: Impact of subthalamic deep brain stimulation (DBS) on impulse control disorders (ICD) in Parkinson's disease (PD) remains controversial.

Objectives: The objectives of this study were to analyze the natural history of ICD between baseline and 1 year after subthalamic DBS in patients with PD and to identify predictive factors, taking into account the positions of the active contact and stimulation parameters.

Methods: We analyzed postoperative modifications of ICD based on the multicentric, prospective Predictive Factors and Subthalamic Stimulation in Parkinson's Disease cohort. ICD status and Ardouin Scale of Behaviour in PD were assessed at baseline and 1 year following subthalamic DBS. Location of active contacts within the 3 subthalamic nucleus functional territories was investigated.

Results: A total of 217 were patients included. Of the patients, 10.6% had ICD at baseline of which 95.6% improved at 1 year following subthalamic DBS; 3.6% of the patients experienced de novo ICD at 1 year following subthalamic DBS. Dopamine agonist dose reduction (from 309.8 to 109.3 mg) was the main driver of ICD regression (P = 0.05). Higher preoperative dyskinesias were associated with poorer ICD evolution (P = 0.04). Whereas baseline apathy was a risk factor of de novo ICD (P = 0.02), ICD improvement correlated with postoperative apathy (P = 0.004). Stimulation power and position of active contacts-mainly located within the sensorimotor part of the subthalamic nucleus-did not influence ICD.

Conclusions: This 1-year, postoperative follow-up study showed ICD regression and dopaminergic drug reduction with optimal position of the active contacts within the subthalamic nucleus. Whereas patients with PD with preoperative ICD were prone to postoperative apathy, we also showed that those with preoperative apathy had a higher risk to experience postoperative de novo ICD, further highlighting the meaningful influence of postoperative management of dopaminergic medication on outcome and the continuum between apathy and ICD. © 2020 International Parkinson and Movement Disorder Society.
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http://dx.doi.org/10.1002/mds.28320DOI Listing
March 2021

Personality Dimensions Are Associated with Quality of Life in Fluctuating Parkinson's Disease Patients (PSYCHO-STIM).

J Parkinsons Dis 2020 ;10(3):1057-1066

ToNIC, Toulouse NeuroImaging Center, University of Toulouse, Inserm, UPS, Toulouse, France.

Background: Parkinson's disease (PD) negatively affects patients' Quality of Life (QoL) which depends on both objective criteria such as physical health and subjective ones such as worries and norms according to personal believes. Therefore, QoL could be also associated to personality dimensions in chronic neurological diseases such as PD.

Objective: Our objective was thus to study the potential association between personality dimensions and QoL in PD patients with motor fluctuations before Deep Brain Stimulation of the Sub-Thalamic Nucleus (DBS-STN).

Methods: Data were obtained from the French multicentric cohort study Predi-Stim. All PD patients awaiting DBS-STN and responding to the inclusion criteria at the time of the study were included. All participants answered the "Temperament and Character Inventory" (TCI) and the PDQ-39 before surgery. Analyses were made using adjusted univariate generalized linear regression models to evaluate a potential association between TCI dimensions and PDQ-39 scores.

Results: Three hundred thirty-three consecutive patients were included. The temperament Harm Avoidance was negatively associated with QoL (p = 1e-4, R2= 0.33), whereas the character Self-Directedness was positively associated with mental component of QoL (p = 2e-4, R2= 0.33) in PD patients with motor fluctuations awaiting DBS-STN.

Conclusions: PD patients with motor fluctuations, with lower Harm Avoidance and higher Self-Directedness scores have the best QoL mainly at an emotional and social level. Therapeutic education of these PD patients focusing on their personal resources may thus be important to improve their well-being.
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http://dx.doi.org/10.3233/JPD-191903DOI Listing
January 2020

Rapid worsening in Parkinson's disease may hide COVID-19 infection.

Parkinsonism Relat Disord 2020 06 8;75:126-127. Epub 2020 May 8.

Département de Neurologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France; Faculté de Médecine de Sorbonne Université, UMR S 1127, Inserm U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moëlle épinière, F-75013, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7205634PMC
June 2020

Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome.

J Neurol Neurosurg Psychiatry 2020 04 6;91(4):444-445. Epub 2019 Nov 6.

Faculté de Médecine de Sorbonne Université, UMR S 1127, Inserm U 1127, and CNRS UMR 7225, and Institut du Cerveau et de la Moelle épinière, Paris, France

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http://dx.doi.org/10.1136/jnnp-2019-321694DOI Listing
April 2020

The supplementary motor area modulates interhemispheric interactions during movement preparation.

Hum Brain Mapp 2019 05 17;40(7):2125-2142. Epub 2019 Jan 17.

Faculté de Médecine, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, Sorbonne Université, Paris, France.

The execution of coordinated hand movements requires complex interactions between premotor and primary motor areas in the two hemispheres. The supplementary motor area (SMA) is involved in movement preparation and bimanual coordination. How the SMA controls bimanual coordination remains unclear, although there is evidence suggesting that the SMA could modulate interhemispheric interactions. With a delayed-response task, we investigated interhemispheric interactions underlying normal movement preparation and the role of the SMA in these interactions during the delay period of unimanual or bimanual hand movements. We used functional MRI and transcranial magnetic stimulation in 22 healthy volunteers (HVs), and then in two models of SMA dysfunction: (a) in the same group of HVs after transient disruption of the right SMA proper by continuous transcranial magnetic theta-burst stimulation; (b) in a group of 22 patients with congenital mirror movements (CMM), whose inability to produce asymmetric hand movements is associated with SMA dysfunction. In HVs, interhemispheric connectivity during the delay period was modulated according to whether or not hand coordination was required for the forthcoming movement. In HVs following SMA disruption and in CMM patients, interhemispheric connectivity was modified during the delay period and the interhemispheric inhibition was decreased. Using two models of SMA dysfunction, we showed that the SMA modulates interhemispheric interactions during movement preparation. This unveils a new role for the SMA and highlights its importance in coordinated movement preparation.
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http://dx.doi.org/10.1002/hbm.24512DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6865634PMC
May 2019

Long-term GPi-DBS improves motor features in myoclonus-dystonia and enhances social adjustment.

Mov Disord 2019 01 9;34(1):87-94. Epub 2018 Oct 9.

Sorbonne Université, Faculté de Médecine; CNRS UMR 7225, UMR S 1127, Institut du Cerveau et de la Moelle épinière, Paris, France.

Background: Good short-term results of pallidal deep brain stimulation have been reported in myoclonus-dystonia. Efficacy and safety in the long term remain to be established. In addition, the actual impact of DBS treatment on social inclusion is unknown. The objective of this study was to assess the long-term clinical outcome, quality of life, and social adjustment of GPi-DBS in patients with ε-sarcoglycan (DYT11)-positive myoclonus-dystonia.

Methods: Consecutive myoclonus-dystonia patients with ε-sarcoglycan mutations who underwent GPi-DBS were evaluated at least 5 years postoperatively. Motor symptoms were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale including the Disability Scale, a composite score combining the rest and action parts of the Unified Myoclonus Rating Scale and modified Abnormal Involuntary Movement Scale. Standardized video-protocols were assessed by a blinded and external movement disorder specialist. Social adjustment, cognition, and mood were evaluated.

Results: Nine patients (5 women) with long-term GPi-DBS (8.7 ± 3.1 years) were included. There was significant improvement in the composite myoclonus score (94.1% ± 4% improvement; P = 0.008). Dystonia severity was also markedly improved (71.4% ± 28.33% improvement; P = 0.008) as well as motor disability (88.3% ± 20% improvement; P = 0.008) and abnormal involuntary movement score (71.1% ± 15.0% improvement; P = 0.008). No patients experienced postoperative speech or gait problems or any permanent adverse effects. Eight of the 9 patients had fully enhanced social adjustment and personal achievement, with little or no mood or behavioral disorders.

Conclusions: GPi-DBS seems to be a safe and efficacious treatment for medically refractory ɛ-sarcoglycan myoclonus-dystonia, with sustained motor benefit, good quality of life, and social adjustment in long-term follow-up. © 2018 International Parkinson and Movement Disorder Society.
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http://dx.doi.org/10.1002/mds.27474DOI Listing
January 2019

A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood.

Orphanet J Rare Dis 2017 10 2;12(1):160. Epub 2017 Oct 2.

Université de la Sorbonne, UPMC Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moëlle, F-75013, Paris, France.

Background: Based on the hypothesis of a brain energy deficit, we investigated the safety and efficacy of triheptanoin on paroxysmal episodes in patients with alternating hemiplegia of childhood due to ATP1A3 mutations.

Methods: We conducted a randomized, double-blind, placebo-controlled crossover study of triheptanoin, at a target dose corresponding to 30% of daily calorie intake, in ten patients with alternating hemiplegia of childhood due to ATP1A3 mutations. Each treatment period consisted of a 12-week fixed-dose phase, separated by a 4-week washout period. The primary outcome was the total number of paroxysmal events. Secondary outcomes included the number of paroxysmal motor-epileptic events; a composite score taking into account the number, severity and duration of paroxysmal events; interictal neurological manifestations; the clinical global impression-improvement scale (CGI-I); and safety parameters. The paired non-parametric Wilcoxon test was used to analyze treatment effects.

Results: In an intention-to-treat analysis, triheptanoin failed to reduce the total number of paroxysmal events (p = 0.646), including motor-epileptic events (p = 0.585), or the composite score (p = 0.059). CGI-I score did not differ between triheptanoin and placebo periods. Triheptanoin was well tolerated.

Conclusions: Triheptanoin does not prevent paroxysmal events in Alternating hemiplegia of childhood. We show the feasibility of a randomized placebo-controlled trial in this setting.

Trial Registration: The study has been registered with clinicaltrials.gov ( NCT002408354 ) the 03/24/2015.
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http://dx.doi.org/10.1186/s13023-017-0713-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5625655PMC
October 2017

New insight in spiral drawing analysis methods - Application to action tremor quantification.

Clin Neurophysiol 2017 10 17;128(10):1823-1834. Epub 2017 Jul 17.

Inserm U 1127, CNRS UMR 7225, Université de la Sorbonne, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Epinière, F-75013, Paris, France; Département de Neurologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France.

Objective: Spiral drawing is one of the standard tests used to assess tremor severity for the clinical evaluation of medical treatments. Tremor severity is estimated through visual rating of the drawings by movement disorders experts. Different approaches based on the mathematical signal analysis of the recorded spiral drawings were proposed to replace this rater dependent estimate. The objective of the present study is to propose new numerical methods and to evaluate them in terms of agreement with visual rating and reproducibility.

Methods: Series of spiral drawings of patients with essential tremor were visually rated by a board of experts. In addition to the usual velocity analysis, three new numerical methods were tested and compared, namely static and dynamic unraveling, and empirical mode decomposition. The reproducibility of both visual and numerical ratings was estimated, and their agreement was evaluated.

Results: The statistical analysis demonstrated excellent agreement between visual and numerical ratings, and more reproducible results with numerical methods than with visual ratings.

Conclusions: The velocity method and the new numerical methods are in good agreement. Among the latter, static and dynamic unravelling both display a smaller dispersion and are easier for automatic analysis.

Significance: The reliable scores obtained through the proposed numerical methods allow considering that their implementation on a digitized tablet, be it connected with a computer or independent, provides an efficient automatic tool for tremor severity assessment.
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http://dx.doi.org/10.1016/j.clinph.2017.07.002DOI Listing
October 2017

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.

Ann Neurol 2017 Jul;82(1):133-138

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1-DS) leads to a wide range of neurological symptoms. Ketogenic diets are very efficient to control epilepsy and movement disorders. We tested a novel simple and rapid blood test in 30 patients with GLUT1-DS with predominant movement disorders, 18 patients with movement disorders attributed to other genetic defects, and 346 healthy controls. We detected significantly reduced GLUT1 expression only on red blood cells from patients with GLUT1-DS (23 patients; 78%), including patients with inconclusive genetic analysis. This test opens perspectives for the screening of GLUT1-DS in children and adults with cognitive impairment, movement disorder, or epilepsy. Ann Neurol 2017;82:133-138.
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http://dx.doi.org/10.1002/ana.24970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5601183PMC
July 2017

Teaching Video Neuro Hyperekplexia: A syndrome of pathologic startle responses.

Neurology 2017 03;88(13):e126-e127

From APHP, Department of Neurology (L-L.M., E.H., M.M., E.R.), Salpêtrière Hospital, Paris; APHP, Department of Neurophysiology (E.A.), Saint Antoine Hospital, Paris; and Sorbonne Universités (E.H., E.A, E.R.), UPMC Univ Paris 06, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000003766DOI Listing
March 2017

Alternating Upper Limb Monoplegia due to ATP1A3 Mutation.

Pediatr Neurol 2017 Mar 5;68:79-80. Epub 2017 Jan 5.

Sorbonne Universités, UPMC Univ Paris 06, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, Paris, France; Département de Neurologie, APHP, Hôpital Pitié Salpêtrière, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.12.001DOI Listing
March 2017

A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia.

Neurology 2016 May 6;86(18):1729-35. Epub 2016 Apr 6.

From Université de la Sorbonne UPMC Paris 06 UMR S 1127 (E.H., M.V., V.B., C.H., D.G., A. Méneret, S. Dupont, E.A., J.-C.C., E.R.), Inserm U 1127, CIC-1422, CNRS UMR 7225, Institut du Cerveau et de la Moëlle, Paris; Département des Maladies du Système Nerveux (E.H., M.V., C.H., B.D., C.B., D.G., J.-C.C., E.R.), Département de Biostatistiques, Unité de Recherche Clinique (N.C., A.B., A. Mallet), Pharmacie (F.C.-B.), Département de Pharmacologie (N.Z.), Département de Génétique, UF de Neurogénétique Moléculaire et Cellulaire (F.C.), and Département d'Epilepsie et de Réhabilitation (S. Dupont), Hôpital Pitié-Salpêtrière, AP-HP; Unité de Neurophysiologie (E.H., E.A.), Département DéPAS, Hôpital Saint-Antoine, AP-HP, Paris; Hospices Civils de Lyon (S.T.), Hôpital Neurologique Pierre Wertheimer; Université Lyon 1 (S.T.); CNRS (S.T.), Centre de Neurosciences Cognitives, UMR 5229, Bron; Département de Neurologie (C.T.), Hôpital de Hautepierre, CHU Strasbourg; Fédération de Médecine translationnelle de Strasbourg (FMTS) (C.T.), Strasbourg, France; Département de Neurologie (G.G.), Hôpital Brugmann, Bruxelles, Belgium; Département de Neurologie (S.Drapier), Hôpital Pontchaillou, CHU Rennes; EA-4712 "Comportement et Noyaux Gris Centraux" (S. Drapier), Université de Rennes 1; Département de Neurologie et Pathologies du Movement (E.M.) and Département de Neurologie (T.L.), CHU de Lille; INSERM UMR-S 1172 (E.M.), Lille; Département de Neurologie (A.D.D.M.), Hôpital Maison Blanche, CHU de Reims; Centre Memoire de Ressources et de Recherche (CMRR) (T.L.), Lille; ESPCI Paris Tech (A.-P.L.), PSL Research University; and Département de Neurologie et Pathologie du Movement (J.-P.A.), Pôle Neurosciences Cliniques, INT-CNRS/AMU Aix-Marseille, France.

Objective: To evaluate the efficacy and safety of zonisamide in patients with myoclonus-dystonia.

Methods: We conducted a randomized, double-blind, placebo-controlled crossover trial of zonisamide (300 mg/d) in 24 patients with myoclonus-dystonia. Each treatment period consisted of a 6-week titration phase followed by a 3-week fixed-dose phase. The periods were separated by a 5-week washout period. The co-primary outcomes were action myoclonus severity (section 4 of the Unified Myoclonus Rating Scale [UMRS 4]) and myoclonus-related functional disability (UMRS 5). Secondary outcomes included dystonia severity, assessed with the movement and disability subscales of the Burke-Fahn-Marsden-Dystonia Rating Scale (BFM), the Clinical Global Impression-Improvement scale (CGI), and safety measures. Wilcoxon signed-rank tests for paired data were used to analyze treatment effects.

Results: Twenty-three patients (11 men, 12 women) were analyzed in the intention-to-treat analysis. Zonisamide significantly improved both action myoclonus (median improvement [95% confidence limits] -5 [-9.25 to -1.44], p = 0.003) and myoclonus-related functional disability (median improvement [95% confidence limits] -2 [-2.58 to -2.46], p = 0.007) compared to placebo. Zonisamide also significantly improved dystonia (BFM movement) compared to placebo (median improvement [95% confidence limits] -3 [-8.46 to 0.03], p = 0.009). No difference was found between zonisamide and placebo with respect to the CGI (median improvement [95% confidence limits] -1 [-1.31 to 0.09], p = 0.1). Zonisamide was well-tolerated.

Conclusions: Zonisamide is well-tolerated and effective on the motor symptoms of myoclonus-dystonia.

Classification Of Evidence: This study provides Class I evidence that zonisamide improves myoclonus and related disability in patients with myoclonus-dystonia.
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http://dx.doi.org/10.1212/WNL.0000000000002631DOI Listing
May 2016

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.

J Neurol Neurosurg Psychiatry 2016 May 3;87(5):550-3. Epub 2015 Nov 3.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France Department of Neurology, AP-HP, Pitié-Salpêtrière University Hospital, Paris, France.

Objective: On the basis of our previous work with triheptanoin, which provides key substrates to the Krebs cycle in the brain, we wished to assess its therapeutic effect in patients with glucose transporter type 1 deficiency syndrome (GLUT1-DS) who objected to or did not tolerate ketogenic diets.

Methods: We performed an open-label pilot study with three phases of 2 months each (baseline, treatment and withdrawal) in eight patients with GLUT1-DS (7-47 years old) with non-epileptic paroxysmal manifestations. We used a comprehensive patient diary to record motor and non-motor paroxysmal events. Functional (31)P-NMR spectroscopy was performed to quantify phosphocreatine (PCr) and inorganic phosphate (Pi) within the occipital cortex during (activation) and after (recovery) a visual stimulus.

Results: Patients with GLUT1-DS experienced a mean of 30.8 (± 27.7) paroxysmal manifestations (52% motor events) at baseline that dropped to 2.8 (± 2.9, 76% motor events) during the treatment phase (p = 0.028). After withdrawal, paroxysmal manifestations recurred with a mean of 24.2 (± 21.9, 52% motor events; p = 0.043). Furthermore, brain energy metabolism normalised with triheptanoin, that is, increased Pi/PCr ratio during brain activation compared to the recovery phase (p = 0.021), and deteriorated when triheptanoin was withdrawn.

Conclusions: Treatment with triheptanoin resulted in a 90% clinical improvement in non-epileptic paroxysmal manifestations and a normalised brain bioenergetics profile in patients with GLUT1-DS.

Trial Registration Number: NCT02014883.
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http://dx.doi.org/10.1136/jnnp-2015-311475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853553PMC
May 2016

Essential Palatal Tremor Synchronization: A Study by Video Record Numerical Analysis.

Mov Disord Clin Pract 2015 Mar 16;2(1):66-68. Epub 2015 Feb 16.

AP-HP, Hôpital Saint-Antoine Unité de Neurophysiologie Paris France.

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http://dx.doi.org/10.1002/mdc3.12128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353376PMC
March 2015

Prediction of evolution toward brain death upon admission to ICU in comatose patients with spontaneous intracerebral hemorrhage using simple signs.

Transpl Int 2013 May 21;26(5):517-26. Epub 2013 Mar 21.

AP-HP, Hôpital Saint-Antoine, Service de Réanimation Médicale, 75571 Paris Cedex 12, France.

The aim of the study was to identify the predictors of brain death (BD) upon admission to the intensive care unit (ICU) of comatose patients with spontaneous intracerebral hemorrhage (ICH). Patients admitted in our ICU from 2002 to 2010 for spontaneous ICH and placed under mechanical ventilation were retrospectively analyzed. Of the 72 patients, 49% evolved to BD, 39% died after withdrawal of life support, and 12% were discharged alive. The most discriminating characteristics to predict BD were included in two models; Model 1 contained ≥3 abolished brainstem responses [adjusted odds ratios (OR) = 8.4 (2.4, 29.1)] and the swirl sign on the baseline CT-scan [adjusted OR = 5.0 (1.6, 15.9)] and Model 2 addressed the abolition of corneal reflexes [unilateral/bilateral: adjusted OR = 4.2 (0.9, 20.1)/8.8 (2.4, 32.3)] and the swirl sign on the baseline CT-scan [adjusted OR = 6.2 (1.9, 20.0)]. Two scores predicting BD were created (sensitivity: 0.89 and 0.88, specificity: 0.68 and 0.65). Risk of evolution toward BD was classified as low (corneal reflexes present and no swirl sign), high (≥1 corneal reflexes abolished and swirl sign), and intermediate. Simple signs at ICU admission can predict BD in comatose patients with ICH and could increase the potential for organ donation.
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http://dx.doi.org/10.1111/tri.12084DOI Listing
May 2013

"Habit" gambling behaviour caused by ischemic lesions affecting the cognitive territories of the basal ganglia.

J Neurol 2010 Oct 5;257(10):1628-32. Epub 2010 May 5.

AP-HP, Service de Neurologie, Hopital Saint-Antoine, 184, rue du Fbg Saint-Antoine, 75571, Paris Cedex 12, France.

We report the case of a patient suffering from sudden apathy and pathological gambling-like behaviour after bilateral ischemic lesions involving the dorsal portion of the head of the caudate nuclei and adjacent anterior limb of the internal capsules. This is the first report of the association of an apathy and abnormal gambling behaviour following a stroke affecting sub-cortical structures. Although the location of the lesions, affecting the dorsal striatum, may explain the emergence of an apathetic state, it is, however, at first sight, not easy to explain the gambling behaviour because the patient was normal in tests evaluating sensitivity to reward, and no radiological abnormality was found in the cortical-sub-cortical system of reward. It is proposed that, for this patient, the mechanism of maladaptive gambling behaviour was the development of a routine behaviour related to the patient's cognitive inertia, a mechanism different from the changes in reward sensitivity observed after damage to the orbital ventral prefrontal-ventral striatum system or in dopamine dysregulation syndrome in Parkinson's disease.
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http://dx.doi.org/10.1007/s00415-010-5579-3DOI Listing
October 2010
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