Showing papers by "Marie Vidailhet published in 2005"
TL;DR: 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.
Abstract: 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.
1,008 citations
TL;DR: REM sleep without atonia and RBD were as frequent in Patients with progressive supranuclear palsy as in patients with Parkinson disease, suggesting that the downstream cause of parkinsonism, rather than its primary neuropathology (synucleinopathy vs tauopathy), is a key factor for REM sleep behavior disorder.
Abstract: STUDY OBJECTIVE To compare sleep characteristics, rapid eye movement (REM) sleep without atonia, and REM sleep behavior disorder (RBD) in patients with progressive supranuclear palsy (tauopathy), patients with Parkinson's disease (a synucleinopathy), and control subjects. DESIGN Sleep interview, overnight polysomnography, and Multiple Sleep Latency Tests. PATIENTS Forty-five age- and sex-matched patients with probable progressive supranuclear palsy, (n=15, aged 68 +/- 8 years, 7 men), patients with Parkinson disease (n=15), and control subjects (n=15). SETTINGS Tertiary-care academic hospital. INTERVENTION N/A. RESULTS Compared to the 2 other groups, patients with progressive supranuclear palsy had a longer duration of wakefulness after sleep onset and twice as much sleep fragmentation and percentage of stage 1 sleep but had similar apnea-hypopnea indexes, periodic leg movements indexes, and mean daytime sleep latencies. REM sleep percentage was as low in patients with progressive supranuclear palsy (8% +/- 6% of total sleep time) as in patients with Parkinson disease (10% +/- 4%), versus 20% +/- 6% in controls (analysis of variance, P < .0001). Interestingly, patients with progressive supranuclear palsy had percentages of REM sleep without atonia (chin muscle activity: 33% +/- 36% of REM sleep) similar to those of patients with Parkinson disease (28% +/- 35%) and dramatically higher than those of controls (0.5% +/- 1%, analysis of variance, P = .008). Four (27%) patients with progressive supranuclear palsy had more than 50% REM sleep without atonia (as did a similar number of patients with Parkinson disease), and 2 of them (13%, vs 20% of patients with Parkinson disease) had clinical RBD. The four patients with progressive supranuclear palsy with excessive daytime sleepiness slept longer at night than the 11 patients with progressive supranuclear palsy who were alert (442 +/- 14 minutes vs 312 +/- 74 minutes, student t tests, P = .004), suggesting a primary nonnarcoleptic hypersomnia. CONCLUSION REM sleep without atonia and RBD were as frequent in patients with progressive supranuclear palsy as in patients with Parkinson disease. It suggests that the downstream cause of parkinsonism, rather than its primary neuropathology (synucleinopathy vs tauopathy), is a key factor for REM sleep behavior disorder.
185 citations
TL;DR: Generalized dystonia remained the predominant feature throughout the disease course and was often associated with akinetic–rigid parkinsonism, particularly in patients with short stature and skeletal dysplasia.
Abstract: GM1 gangliosidosis is due to beta-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.
89 citations
TL;DR: The findings suggest that the administration of dopamine did not entirely remove the memory deficits in PD patients, and DA treatment would have abnormally accelerated the rate of the internal clock leading to shorter duration productions inPD patients.
72 citations
TL;DR: The beneficial effect of bilateral stimulation of the posteroventral part of the internal globus pallidus (GPi) in six patients with genetically proven diagnosis of PKAN, who developed pharmacologically intractable early-onset, progressive, severe generalized dystonia, is reported.
Abstract: Generalized dystonia characterized by abnormal movements and tonic postures with involvement of the limbs, trunk, and orofacial region is a severe motor disorder with major limitations in daily living activities. Pharmacological treatments have limited efficacy, and pallidal deep brain stimulation (DBS) has been recommended for patients with severe dystonia. To date, a sustained improvement in motor symptoms and disability have been demonstrated in a prospective controlled study of bilateral DBS in primary generalized dystonia, in heterogeneous small studies, and in an uncontrolled, larger 2-year follow-up series with positive results in DYT1 and non-DYT1 children and adult patients. In contrast, patients with secondary dystonia showed less and more variable benefit. Because of the wide variability of causes and the lack of specific studies for each cause, no general conclusions or recommendations on the effects of surgery can be drawn. In this issue of the Annals, Castelnau and colleagues report the beneficial effect of bilateral stimulation of the posteroventral part of the internal globus pallidus (GPi) in six patients with genetically proven diagnosis of PKAN, who developed pharmacologically intractable early-onset, progressive, severe generalized dystonia. The 74% mean global motor improvement and the 53% disability improvement on the Burke-FahnMarsden dystonia scales were similar to those observed in primary dystonia. Benefit was obtained from month 3 and was stable thereafter with a 20-month follow-up. Several remarks can be drawn from this report, which may be extended to other types of dystonia. (1) Good and long-lasting improvement of dystonia can be obtained with bilateral DBS by targeting the posteroventral GPi, assumed to be the sensorimotor part, in not only primary dystonia but also selected forms of secondary or heredodegenerative dystonia. (2) Improvement is still possible in patients who have suffered from dystonia for decades, because those PKAN patients were operated on up to 22 years after disease onset. (3) In PKAN patients, painful muscle spasms disappeared and dystonic postures decreased. This may support the observation, already mentioned by other groups, that phasic forms of dystonia (with spasms and abnormal movements) may have a better improvement with DBS than tonic forms (fixed abnormal postures). (4) Although limb and trunk dystonia is improved by DBS, the benefit on speech intelligibility is more critical. This differential effect of DBS should be considered in patient’s selection for surgery. (5) Castelnau and colleagues used a 450 spulse width, 130Hz frequency setting, but other groups used shorter pulse widths (60 –210 s) with similar results. To date, the optimal parameters are still to be determined. (6) The most intriguing part is that, despite iron accumulation, neuronal degeneration, and gliosis, the GPi may not be totally damaged, because stimulation of its posterolateral portion is still effective. Therefore, one may hypothesize that in PKAN patients studied by Castelnau and colleagues, dystonia is associated with a residual, although abnormal, activity of the pallidal neurons, which is altered by high-frequency stimulation. In contrast, despite little visible lesions in the pallidum, DBS is less effective in generalized dystonia secondary to birth injury, suggesting that a widespread dysfunction of the sensorimotor pathways may be present and cannot be restored to a more physiological pattern by pallidal DBS. However, we should keep in mind that two in the six patients reported in Castelnau and colleagues’ study have an atypical PKAN with onset at teenage years and a more slowly progressive course. Besides, this is an open study and partial placebo effects cannot be ruled out. In more severe PKAN patients, the necrotic lesion may be larger and include the posterolateral GPi preventing so the effects of stimulating the same target area. Despite improvement at 2-year follow-up, there are still issues on the long-term benefit, because PKAN has a relentless progressive course and may include several features apart from dystonia, such as corticospinal symptoms, pigmentary retinopathy, and cognitive and psychiatric impairment. Only selected PKAN patients may experience great functional benefit from GPi DBS. As a conclusion, the analysis of open-labeled studies, in heterogeneous groups of patients with secondary dystonia, may be misleading: reputed intractable types of dystonia can be markedly improved by DBS as illustrated by the results in PKAN patients. Controlled studies, in homogeneous groups of either primary or secondary dystonia are essential to determine EDITORIAL
23 citations
01 Jan 2005
TL;DR: The current chapter was prepared to help clinicians examine patients with parkinsonian syndromes and to detect clinical signs and clues that should alert to the appropriate diagnosis.
Abstract: The current chapter was prepared to help clinicians examine patients with parkinsonian syndromes and to detect clinical signs and clues that should alert to the appropriate diagnosis. For the main clinical diagnosis criteria of various parkinsonian syndromes (Parkinson’s disease [PD], multiple system atrophy [MSA], progressive supranuclear palsy [PSP], corticobasal degeneration [CBD], and dementia with Lewy bodies [DLB],), the semiology will be detailed. The validity and reliability of these criteria will not be touched upon, as they were extensively reviewed recently in a reference paper by Litvan and colleagues (1).