The Experts below are selected from a list of 1773 Experts worldwide ranked by ideXlab platform
Marie Vidailhet - One of the best experts on this subject based on the ideXlab platform.
-
deep brain stimulation of the globus pallidus for Generalized dystonia in gm1 type 3 gangliosidosis technical case report
Neurosurgery, 2006Co-Authors: Emmanuel Roze, Philippe Cornu, Marie-laure Welter, Soledad Navarro, Marie VidailhetAbstract:OBJECTIVE: GM1 Type 3 gangliosidosis is a lysosomal storage guidance. At follow-up visits, both the patient and the disorder for which no specific treatment is available. It is neurologists who performed the assessment were unaware of characterized by progressive Generalized dystonia, which is whether the neurostimulator was on or off. The patient was refractory to pharmacological treatment and results in severe videotaped with a standardized protocol and scored by an disability and life-threatening complications. We performed independent expert. bilateral pallidal stimulation in a patient with GM1 gangliosidosis, and report the 12-month postoperative course. CONCLUSION: After 1 year of follow-up, double-blind comparison of the patient's status with and without CLINICAL PRESENTATION: A 24-year old woman presented neurostimulation showed a 20% improvement, with a with genetically confirmed GM1 gangliosidosis, resulting in significant functional benefit but no change in disease severe progressive Generalized dystonia. progression. Although further studies are needed to evaluate this therapeutic approach, this report suggests that pallidal INTERVENTION: Leads were implanted bilaterally into the stimulation might be a promising treatment for dystonia internal part of the globus pallidus under stereotactic caused by GM1 Type 3 gangliosidosis.
-
dystonia and parkinsonism in gm1 type 3 gangliosidosis
Movement Disorders, 2005Co-Authors: Emmanuel Roze, Annie Maurelollivier, Kunihiro Yoshida, Eduard Paschke, Nathalie Lopez, Thierry Billette De Villemeur, Catherine Caillaud, Diane Doummar, Damien Galanaud, Marie VidailhetAbstract:GM1 gangliosidosis is due to β-galactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in non-Japanese patients. We describe four new patients and systematically analyze all previous reports found by a literature search and contacts with the authors for additional information. Generalized dystonia remained the predominant feature throughout the disease course and was often associated with akinetic–rigid parkinsonism. GM1 gangliosidosis must be considered as a cause of early-onset Generalized dystonia, particularly in patients with short stature and skeletal dysplasia. © 2005 Movement Disorder Society
-
bilateral deep brain stimulation of the globus pallidus in primary Generalized dystonia
The New England Journal of Medicine, 2005Co-Authors: Marie Vidailhet, Philippe Cornu, Jean-luc Houeto, Laurent Vercueil, Christelle Lagrange, Didier Dormont, Pierre Krystkowiak, Alimlouis Benabid, Sophie Tezenas Du Montcel, S GrandAbstract:BACKGROUND: Severe forms of dystonia respond poorly to medical treatment. Deep-brain stimulation is a reversible neurosurgical procedure that has been used for the treatment of dystonia, but assessment of its efficacy has been limited to open studies. METHODS: We performed a prospective, controlled, multicenter study assessing the efficacy and safety of bilateral pallidal stimulation in 22 patients with primary Generalized dystonia. The severity of dystonia was evaluated before surgery and 3, 6, and 12 months postoperatively during neurostimulation, with the use of the movement and disability subscores of the Burke-Fahn-Marsden dystonia Scale (range, 0 to 120 and 0 to 30, respectively, with higher scores indicating greater impairment). Movement scores were assessed by a review of videotaped sessions performed by an observer who was unaware of treatment status. At three months, patients underwent a double-blind evaluation in the presence and absence of neurostimulation. We also assessed the patients' quality of life, cognition, and mood at baseline and 12 months. RESULTS: The dystonia movement score improved from a mean (+/-SD) of 46.3+/-21.3 before surgery to 21.0+/-14.1 at 12 months (P<0.001). The disability score improved from 11.6+/-5.5 before surgery to 6.5+/-4.9 at 12 months (P<0.001). General health and physical functioning were significantly improved at month 12; there were no significant changes in measures of mood and cognition. At the three-month evaluation, dystonia movement scores were significantly better with neurostimulation than without neurostimulation (24.6+/-17.7 vs. 34.6+/-12.3, P<0.001). There were five adverse events (in three patients); all resolved without permanent sequelae. CONCLUSIONS: These findings support the efficacy and safety of the use of bilateral stimulation of the internal globus pallidus in selected patients with primary Generalized dystonia.
-
bilateral deep brain stimulation of the globus pallidus in primary Generalized dystonia
The New England Journal of Medicine, 2005Co-Authors: Marie Vidailhet, Philippe Cornu, Jean-luc Houeto, Laurent Vercueil, Christelle Lagrange, Didier Dormont, Pierre Krystkowiak, Alimlouis Benabid, Sophie Tezenas Du Montcel, S GrandAbstract:Background Severe forms of dystonia respond poorly to medical treatment. Deep-brain stimulation is a reversible neurosurgical procedure that has been used for the treatment of dystonia, but assessment of its efficacy has been limited to open studies. Methods We performed a prospective, controlled, multicenter study assessing the efficacy and safety of bilateral pallidal stimulation in 22 patients with primary Generalized dystonia. The severity of dystonia was evaluated before surgery and 3, 6, and 12 months postoperatively during neurostimulation, with the use of the movement and disability subscores of the Burke–Fahn–Marsden dystonia Scale (range, 0 to 120 and 0 to 30, respectively, with higher scores indicating greater impairment). Movement scores were assessed by a review of videotaped sessions performed by an observer who was unaware of treatment status. At three months, patients underwent a double-blind evaluation in the presence and absence of neurostimulation. We also assessed the patients' quality...
-
frequency of the dyt1 mutation in primary torsion dystonia without family history
JAMA Neurology, 2000Co-Authors: David Brassat, Marie Vidailhet, Alexandra Durr, Y Agid, Agnes Camuzat, I Feki, Pierre Jedynak, Patrick Klap, Alexis BriceAbstract:Background Idiopathic torsion dystonia is a clinically and genetically heterogeneous movement disorder. A GAG deletion at position 946 of the DYT1 gene was the first mutation found, in early-onset dystonia, with an autosomal dominant transmission and reduced penetrance. Objective To evaluate the frequency of the DYT1 mutation in patients with idiopathic torsion dystonia but without a family history. Design Prospective cohort study. Setting Four botulinum toxin clinics in the Paris, France, area. Patients A French population of 100 patients with dystonia. Main Outcome Frequency of the DYT1 mutation tested by polymerase chain reaction and enzyme restriction analysis for the 946 GAG deletion, and genotype-to-phenotype correlation. Results Only 5 mutation carriers were identified, 4 of whom were part of a group of 10 patients with Generalized dystonia. Onset was between ages 5 and 12 years as in typical early-onset dystonia. All 4 patients had cranial muscle involvement, which is atypical for DYT1 mutation carriers. One had segmental dystonia. Molecular analysis of relatives in 2 families demonstrated that the lack of family history was due to reduced penetrance. Conclusions For accurate diagnosis and genetic counseling, screening for the DYT1 deletion is of great interest in cases with Generalized dystonia without a family history. In other cases, positive results are rare.
Kailash P. Bhatia - One of the best experts on this subject based on the ideXlab platform.
-
Supplemental data at Neurology.org
2016Co-Authors: Susanne A. Schneider, Kailash P. Bhatia, G Deuschl, Franziska Hopfner, Maria Stamelou, Nicholas W Wood, Als MutationsAbstract:Juvenile amyotrophic lateral sclerosis and Generalized dystonia Objective: To determine the genetic etiology in 2 consanguineous families who presented a novel phenotype of autosomal recessive juvenile amyotrophic lateral sclerosis associated with gener-alized dystonia. Methods: A combination of homozygosity mapping and whole-exome sequencing in the first family and Sanger sequencing of candidate genes in the second family were used. Results: Both families were found to have homozygous loss-of-function mutations in the amyotro-phic lateral sclerosis 2 (juvenile) (ALS2) gene. Conclusions: We report Generalized dystonia and cerebellar signs in association with ALS2-related disease. We suggest that the ALS2 gene should be screened for mutations in patients who present with a similar phenotype. Neurology ® 2014;82:1–3 GLOSSARY ALS2 5 amyotrophic lateral sclerosis 2 (juvenile); JALS 5 juvenile-onset amyotrophic lateral sclerosis; NHLBI 5 National Heart, Lung, and Blood Institute
-
als2 mutations juvenile amyotrophic lateral sclerosis and Generalized dystonia
Neurology, 2014Co-Authors: Unamarie Sheerin, Susanne A. Schneider, Lucinda Carr, G Deuschl, Franziska Hopfner, Maria Stamelou, Nicholas W Wood, Kailash P. BhatiaAbstract:Objective: To determine the genetic etiology in 2 consanguineous families who presented a novel phenotype of autosomal recessive juvenile amyotrophic lateral sclerosis associated with Generalized dystonia. Methods: A combination of homozygosity mapping and whole-exome sequencing in the first family and Sanger sequencing of candidate genes in the second family were used. Results: Both families were found to have homozygous loss-of-function mutations in the amyotrophic lateral sclerosis 2 (juvenile) ( ALS2 ) gene. Conclusions: We report Generalized dystonia and cerebellar signs in association with ALS2 -related disease. We suggest that the ALS2 gene should be screened for mutations in patients who present with a similar phenotype.
-
dystonia with aphonia slow horizontal saccades epilepsy and photic myoclonus a novel syndrome
Parkinsonism & Related Disorders, 2014Co-Authors: Christos Ganos, Saskia Biskup, Stefanie Kruger, Aracelli Meyerosores, Sibylle Hodecker, Christian Hagel, Ludger Schols, Kailash P. Bhatia, Alexander MunchauAbstract:Abstract Background dystonia with anarthria and/or aphonia is a rare syndromic association. Here we present two cases with slowly progressive, severe Generalized dystonia and aphonia, slow horizontal saccades, epilepsy and photic myoclonus. Methods Detailed clinical data were collected over two decades in the female (index) patient and for nine years in her similarly affected son. Sanger sequencing followed by exome sequencing was performed. Results Both patients had leg onset Generalized dystonia with gradual rostral spread including prominent facial and oro-mandibular involvement. The index patient was anarthric, her son aphonic. Both had saccadic slowing, more marked for the horizontal plane, and subclinical epileptic activity. The index patient also had photic myoclonus and a combined axonal and demyelinating neuropathy. Known genetic causes of similar syndromes were not identified. Conclusion These cases with caudo-rostrally spreading Generalized dystonia with prominent facial and oro-mandibular involvement, severe speech impairment, marked slowing of horizontal saccades, and photic myoclonus likely represent a novel entity.
-
dystonia with brain manganese accumulation resulting from slc30a10 mutations a new treatable disorder
Movement Disorders, 2012Co-Authors: Maria Stamelou, Kailash P. Bhatia, Karin Tuschl, W K Chong, Andrew K Burroughs, Philippa B Mills, Peter E ClaytonAbstract:Background The first gene causing early-onset Generalized dystonia with brain manganese accumulation has recently been identified. Mutations in the SLC30A10 gene, encoding a manganese transporter, cause a syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia. Methods We present 10-year longitudinal clinical features, MRI data, and treatment response to chelation therapy of the originally described patient with a proven homozygous mutation in SLC30A10. Results The patient presented with early-onset Generalized dystonia and mild hyperbilirubinemia accompanied by elevated whole-blood manganese levels. T1-sequences in MRI showed hyperintensities in the basal ganglia and cerebellum, characteristic of manganese deposition. Treatment with intravenous disodium calcium edetate led to clinical improvement and reduction of hyperintensities in brain imaging. Conclusions We wish to highlight this rare disorder, which, together with Wilson's disease, is the only potentially treatable inherited metal storage disorder to date, that otherwise can be fatal as a result of complications of cirrhosis. © 2012 Movement Disorder Society.
-
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.
Neurology, 2010Co-Authors: Henry Houlden, John Hardy, Reema Paudel, Susanne A. Schneider, Anna Melchers, Petra Schwingenschuh, Mark J. Edwards, Kailash P. BhatiaAbstract:Background: The clinical phenotype of DYT6 consists mainly of primary craniocervical dystonia. Recently, the THAP1 gene was identified as the cause of DYT6, where a total of 13 mutations have been identified in Amish-Mennonite and European families. Methods: We sequenced the THAP1 gene in a series of 362 British, genetically undetermined, primary dystonia patients (78 with focal, 186 with segmental, and 98 with Generalized dystonia) and in 28 dystonia-manifesting DYT1 patients and 176 normal control individuals. Results: Nine coding mutations were identified in the THAP1 gene. Two were small deletions, 2 were nonsense, and 5 were missense. Eight mutations were heterozygous, and 1 was homozygous. The main clinical presentation of cases with THAP1 mutations was early-onset ( THAP1 cases developed Generalized dystonia. Conclusions: The number of THAP1 mutations has been significantly expanded, indicating an uncommon but important cause of dystonia. Coding mutations account for 9 of 362 dystonia cases, indicating a mutation frequency of 2.5% of dystonia cases in the population that we have screened. The majority of cases reported here with THAP1 mutations had craniocervical- or limb-onset segmental dystonia, but we also identified 1 homozygous THAP1 mutation, associated initially with writer9s dystonia and then developing segmental dystonia. Three of our patients had a nonsense or frameshift THAP1 mutation and the clinical features of laryngeal or oromandibular dystonia. These data suggest that early-onset dystonia that includes the involvement of the larynx or face is frequently associated with THAP1 mutations.
Andres M Lozano - One of the best experts on this subject based on the ideXlab platform.
-
location of active contacts in patients with primary dystonia treated with globus pallidus deep brain stimulation
Neurosurgery, 2008Co-Authors: Clement Hamani, Elena Moro, Cindy Zadikoff, Yuyan Poon, Andres M LozanoAbstract:Objective Deep brain stimulation of the globus pallidus internus has been used for the treatment of various forms of dystonia, but the factors influencing postoperative outcomes remain unknown. We compared the location of the contacts being used for stimulation (active contacts) in patients with cervical dystonia, Generalized dystonia, and Parkinson's disease and correlated the results with clinical outcome. Methods Postoperative magnetic resonance scans of 13 patients with cervical dystonia, six patients with Generalized dystonia, and five patients with Parkinson's disease who underwent globus pallidus internus deep brain stimulation were analyzed. We assessed the location of the active contacts relative to the midcommisural point and in relation to the anteroposterior and mediolateral boundaries of the pallidum. Postoperative outcome was measured with the Toronto Western Spasmodic Torticollis Rating Scale (for cervical dystonia) and the Burke-Fahn-Marsden dystonia Rating Scale (for Generalized dystonia) during the last follow-up. Results We found that the location of the active contacts relative to the midcommisural point and the internal boundaries of the pallidum was similar across the groups. In our series, the contacts used for stimulation were clustered in the posterolateral region of the pallidum. Within that region, we found no correlation between the location of the contacts and postoperative outcome. Conclusion The location of the active contacts used for globus pallidus internus deep brain stimulation was similar in patients with cervical dystonia, Generalized dystonia, and Parkinson's disease.
-
Globus pallidus deep brain stimulation for Generalized dystonia: Clinical and PET investigation
Neurology, 1999Co-Authors: Rajeev Kumar, Alain Dagher, William D. Hutchison, Anthony E Lang, Andres M LozanoAbstract:Article abstract Bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) in a patient with severe idiopathic Generalized dystonia resulted in immediate improvement of all aspects of dystonia. During joystick movement, GPi DBS reduced PET activation bilaterally in the primary motor, lateral premotor, supplementary motor, anterior cingulate, and prefrontal areas and ipsilaterally in the lentiform nucleus. Altering basal ganglia function with GPi DBS reverses the overactivity of certain motor cortical areas present in dystonia.
-
Globus pallidus internus pallidotomy for Generalized dystonia.
Movement disorders : official journal of the Movement Disorder Society, 1997Co-Authors: Andres M Lozano, Rajeev Kumar, Robert E. Gross, W D Hutchison, Nir Giladi, Jonathan O. Dostrovsky, Anthony E LangAbstract:The authors present a young boy with severe Generalized dystonia treated with bilateral simultaneous pallidotomy. Microelectrode recordings with the patient under propofol anesthesia showed that the mean discharge rate of globus pallidus internus (GPi) neurons was between 21 and 31 Hz. This contrasts sharply with the mean GPi neuronal firing rates of approximately 80 Hz that are characteristic of Parkinson's disease. The patient had no immediate benefit from surgery, but a progressive improvement in both axial and limb dystonia began within 3 days. The Burke-Fahn-Marsden scores were 75 (maximum possible = 120) at baseline, 52 at 5 days, and 16 at 3 months after surgery. The mechanism of action of pallidotomy for dystonia and the reasons for the delayed and progressive improvement are unknown. Nevertheless, the magnitude of the improvement and the safety of the procedure in this one patient warrant a careful evaluation of pallidotomy for dystonia.
Philippe Coubes - One of the best experts on this subject based on the ideXlab platform.
-
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration
Annals of Neurology, 2005Co-Authors: Pierre Castelnau, Laura Cif, Nathalie Vayssiere, Simone Hemm, Amandine Gannau, Annalisa Digiorgio, E.m. Valente, Philippe CoubesAbstract:Pantothenate kinase-associated neurodegeneration (PKAN) causes a progressive Generalized dystonia which remains pharmacologically intractable. We performed bilateral internal globus pallidus stimulation in six patients with genetically confirmed PKAN who obtained a major and long-lasting improvement of their painful spasms, dystonia, and functional autonomy. This study shows the benefits of pallidal DBS for the dystonia of PKAN patients.
-
electrical stimulation of the globus pallidus internus in patients with primary Generalized dystonia long term results
Journal of Neurosurgery, 2004Co-Authors: Philippe Coubes, Nathalie Vayssiere, Simone Hemm, Sylvie Tuffery, B Echenne, Mireille Claustres, Hassan El Fertit, Stephanie Serrat, M C Picot, Philippe FrerebeauAbstract:Object. Primary Generalized dystonia (PGD) is a medically refractory disease of the brain causing twisting or spasmodic movements and abnormal postures. In more than 30% of cases it is associated with the autosomal DYT1 mutation. Continuous electrical stimulation of the globus pallidus internus (GPi) has been used successfully in the treatment of PGD. The aim of this study was to examine the long-term efficacy and safety of deep brain stimulation (DBS) in the treatment of PGD in children and adults with and without the DYT1 mutation. Methods. Thirty-one patients with PGD were selected for surgery. Electrodes were bilaterally implanted under stereotactic guidance and connected to neurostimulators that were inserted subcutaneously. Efficacy was evaluated by comparing scores on the clinical and functional Burke-Fahn-Marsden dystonia Rating Scale (BFMDRS) before and after implantation. The efficacy of stimulation improved with time. After 2 years, compared with preoperative values, the mean (� standard deviation) clinical and functional BFMDRS scores had improved by 79 � 19% and 65 � 33%, respectively. At the 2-year follow-up examination the improvement was comparable in patients with and without the DYT1 mutation in both the functional (p = 0.12) and clinical (p = 0.33) scores. Children displayed greater improvements in the clinical score than adult patients (p = 0.04) at 2 years of follow up. In contrast, there was no significant difference in functional scores between children and adults (p = 0.95). Conclusions. Electrical stimulation of the GPi is an effective, reversible, and adaptable treatment for PGD and should be considered for conditions refractory to pharmaceutical therapies.
-
treatment of dystonic syndromes by chronic electrical stimulation of the internal globus pallidus
Journal of Neurosurgical Sciences, 2003Co-Authors: Laura Cif, Nathalie Vayssiere, Simone Hemm, Amandine Gannau, El H Fertit, E Hardouin, Sylvie Tuffery, Philippe CoubesAbstract:Aim dystonia is a medically intractable condition causing twisting or myoclonic movements and abnormal postures. There is an important heterogeneity among etiologies of dystonia. The electrical stimulation of the globus pallidus has been used successfully in primary Generalized dystonia. The aim of this study was to examine the long-term efficacy and safety of deep brain stimulation (DBS) in the treatment of primary and secondary Generalized dystonia in children and adults. Methods Fifty-three patients were included. Electrodes were bilaterally implanted under stereotactic guidance and connected to neurostimulators, subcutaneously inserted. Efficacy was evaluated by comparing scores on the clinical and functional Burke-Marsden-Fahn dystonia rating scales (BMFDRS) before and after implantation. Patients were divided into 3 groups: group 1 comprised 15 patients with DYT1 dystonia; group 2, 17 patients with dystonia of unknown etiology and group 3, 21 patients with secondary dystonia. The mean follow-up was 26.6+/-12.3 months for primary dystonia and 23.1+/-11.8 for secondary dystonia. Results After 1 year, the improvement of the clinical score is 71% in group 1, 74% in group 2 and 31% in group 3. The functional score was improved by 63% in group 1, 49% in group 2 and 7% in group 3. We did not find any significant difference between children and adults. In secondary dystonia, efficacy of the stimulation is more limited. The efficacy of the stimulation improved with time for the 3 groups. COMCLUSION: Electrical stimulation of the internal globus pallidus proved to be an effective treatment for Generalized dystonia and should be considered as first-line therapy.
-
treatment of early onset Generalized dystonia by chronic bilateral stimulation of the internal globus pallidus apropos of a case
Neurochirurgie, 1999Co-Authors: Philippe Coubes, Nathalie Vayssiere, Sylvie Tuffery, B Echenne, Agathe Roubertie, Gilles Cambonie, Mireille Claustres, Philippe FrerebeauAbstract:dystonia musculorum deformans is an inherited severe disease, with a wide clinical polymorphism. The most severe clinical forms with early onset carry a high risk of life-threatening complications. In the absence of any efficient medical treatment, bilateral pallidotomy has previously been reported to be of value in the management of this disease. We report the first clinical case of a severe early-onset Generalized dystonia dramatically improved by a bilateral stimulation of the internal globus pallidus. In November 1996, we proposed this neurosurgical procedure for a 8-year-old girl, who had suffered since the age of 3 from severe Generalized dystonia, and who progressively became totally dependent and bedridden. She had been under sedation and permanent controlled respiratory assistance for the last two months. The etiology of the disease remained unknown (the DYT1 mutation was absent). Under general anesthesia, we bilaterally implanted a four-contacts electrode in the internal globus pallidus, using the Leksell's stereotactic frame and a 1.5 tesla MRI control. A dramatic improvement was noted 6 weeks later and led us to connect the two electrodes to neurostimulators inserted under the abdominal skin.
Pierre Krystkowiak - One of the best experts on this subject based on the ideXlab platform.
-
screening of the thap1 gene in patients with early onset dystonia myoclonic jerks are part of the dystonia 6 phenotype
Neurogenetics, 2011Co-Authors: Fabienne Clot, Pierre Krystkowiak, David Grabli, Pierre Burbaud, Magali Aya, Pascal Derkinderen, Luc Defebvre, Philippe Damier, Pierre Pollak, Eric LeguernAbstract:Mutations in the THAP1 gene are responsible for an autosomal dominant form of primary torsion dystonia 6 (DYT6) [1]. Patients with DYT6 are characterized usually by childhoodor early-adulthood-onset dystonia, affecting brachial, cervical, or cranial muscles with possible progression towards Generalized dystonia [2–5]. We analyzed the three exons of the THAP1 gene by direct sequencing in 113 primary dystonia cases from France, European countries, and North Africa. Familial or isolated cases with primary dystonias with early-onset ( C/p.Ser6Pro and c.215T>G/p.Leu72Arg) which affect residues that are highly conserved across
-
Acute deep-brain stimulation of the internal and external globus pallidus in primary dystonia: functional mapping of the pallidum.
JAMA Neurology, 2007Co-Authors: Jean-luc Houeto, Eric Bardinet, Laurent Vercueil, Christelle Lagrange, Valerie Mesnage, Didier Dormont, Jérôme Yelnik, Pierre Krystkowiak, Jean-pierre PruvoAbstract:BACKGROUND: dystonia is a syndrome characterized by prolonged muscle contractions that cause sustained twisting movements and abnormal posturing of body parts. Patients with the severe and Generalized forms can benefit from bilateral high-frequency pallidal stimulation. OBJECTIVE: To investigate the functional map of the globus pallidus (GP) in patients with primary Generalized dystonia. DESIGN: Prospective multicenter, double-blind, video-controlled study in patients treated at a university hospital. SETTING: University secondary care centers. PATIENTS: Twenty-two patients with primary Generalized dystonia. INTERVENTIONS: Acute internal and external pallidal deep-brain stimulation or pallidal deep-brain stimulation. MAIN OUTCOME MEASURES: The clinical effects of acute bilateral high-frequency ventral vs acute dorsal pallidal stimulation were assessed with the Movement subscale of the Burke-Fahn-Marsden dystonia Rating Scale. Intrapallidal localization of the contacts of the quadripolar electrodes was performed using a 3-dimensional atlas-magnetic resonance imaging coregistration method by investigators blinded to the clinical outcome. RESULTS: Bilateral acute ventral stimulation of the GP significantly improved the Burke-Fahn-Marsden dystonia Rating Scale score by 42% and resulted in stimulation of contacts located in the internal GP or medullary lamina in 18 of 21 patients. Bilateral acute dorsal pallidal stimulation, primarily localized within the external GP, had variable effects across patients, with half demonstrating slight or no improvement or even aggravation of dystonia compared with baseline. CONCLUSIONS: Ventral pallidal stimulation, primarily of the internal GP or medullary lamina or both, is the optimal method for the treatment of dystonia. The varying effects across patients of bilateral acute dorsal pallidal stimulation, primarily of the external GP, suggest that unknown factors associated with dystonia could have a role in and contribute to the effects of the electrical stimulation.
-
bilateral deep brain stimulation of the globus pallidus in primary Generalized dystonia
The New England Journal of Medicine, 2005Co-Authors: Marie Vidailhet, Philippe Cornu, Jean-luc Houeto, Laurent Vercueil, Christelle Lagrange, Didier Dormont, Pierre Krystkowiak, Alimlouis Benabid, Sophie Tezenas Du Montcel, S GrandAbstract:BACKGROUND: Severe forms of dystonia respond poorly to medical treatment. Deep-brain stimulation is a reversible neurosurgical procedure that has been used for the treatment of dystonia, but assessment of its efficacy has been limited to open studies. METHODS: We performed a prospective, controlled, multicenter study assessing the efficacy and safety of bilateral pallidal stimulation in 22 patients with primary Generalized dystonia. The severity of dystonia was evaluated before surgery and 3, 6, and 12 months postoperatively during neurostimulation, with the use of the movement and disability subscores of the Burke-Fahn-Marsden dystonia Scale (range, 0 to 120 and 0 to 30, respectively, with higher scores indicating greater impairment). Movement scores were assessed by a review of videotaped sessions performed by an observer who was unaware of treatment status. At three months, patients underwent a double-blind evaluation in the presence and absence of neurostimulation. We also assessed the patients' quality of life, cognition, and mood at baseline and 12 months. RESULTS: The dystonia movement score improved from a mean (+/-SD) of 46.3+/-21.3 before surgery to 21.0+/-14.1 at 12 months (P<0.001). The disability score improved from 11.6+/-5.5 before surgery to 6.5+/-4.9 at 12 months (P<0.001). General health and physical functioning were significantly improved at month 12; there were no significant changes in measures of mood and cognition. At the three-month evaluation, dystonia movement scores were significantly better with neurostimulation than without neurostimulation (24.6+/-17.7 vs. 34.6+/-12.3, P<0.001). There were five adverse events (in three patients); all resolved without permanent sequelae. CONCLUSIONS: These findings support the efficacy and safety of the use of bilateral stimulation of the internal globus pallidus in selected patients with primary Generalized dystonia.
-
bilateral deep brain stimulation of the globus pallidus in primary Generalized dystonia
The New England Journal of Medicine, 2005Co-Authors: Marie Vidailhet, Philippe Cornu, Jean-luc Houeto, Laurent Vercueil, Christelle Lagrange, Didier Dormont, Pierre Krystkowiak, Alimlouis Benabid, Sophie Tezenas Du Montcel, S GrandAbstract:Background Severe forms of dystonia respond poorly to medical treatment. Deep-brain stimulation is a reversible neurosurgical procedure that has been used for the treatment of dystonia, but assessment of its efficacy has been limited to open studies. Methods We performed a prospective, controlled, multicenter study assessing the efficacy and safety of bilateral pallidal stimulation in 22 patients with primary Generalized dystonia. The severity of dystonia was evaluated before surgery and 3, 6, and 12 months postoperatively during neurostimulation, with the use of the movement and disability subscores of the Burke–Fahn–Marsden dystonia Scale (range, 0 to 120 and 0 to 30, respectively, with higher scores indicating greater impairment). Movement scores were assessed by a review of videotaped sessions performed by an observer who was unaware of treatment status. At three months, patients underwent a double-blind evaluation in the presence and absence of neurostimulation. We also assessed the patients' quality...