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Targets for treatment of dystonia caused by several etiologies. Meta analysis.

Introduction

The last two decades have witnessed a renaissance of functional stereotactic neurosurgery in the treatment of diseases in the movement, such Parkinson's disease, essential tremor, pure dystonia and dystonic and dyskinetic syndromes (DDS). Ablative surgery (the thalamotomies and pallidotomies) were gradually and largely replaced by chronic deep brain stimulation (DBS) applied to different target structures that are part of the basal ganglia (internal globus pallidus, subthalamic nucleus) and thalamus. The reason for this transition is the least invasive, most adaptable and possibly reversible. Since the purpose of functional neurosurgery is to relieve the symptoms of these chronic diseases (sometimes progressive) and improve the quality of life of patients, it is imperative to propose surgical procedures that do not cause complications and expect therapeutic on the disease symptoms.

When the DBS is indicated for the treatment of various dystonic syndromes, the globus pallidus internus (GPi) is most often used as a therapeutic target. His part posteroventral sensorimotor, target of Leksell and Laitinen, was recognized as the optimal target lesion surgery (pallidotomy) in the treatment of Parkinson's disease and dystonia syndromes. The volume of the sensorimotor part of the GPi is more important than other targets such as STN.

Pallidal neurons represent two subneuronal populations which differ by the presence or absence of dendritic spines (Figure 1). Neurons which presents thorns have a relatively large soma from which emerge 3-5 dendrites emitting segments secondary, tertiary or even with some veins in dendritic level (Figure 2). Neurons with thorns have a cell body smaller, however, the size and distribution of the dendritic field appears similar regardless of the type of cell. The pallidal neurons vary widely in size from 80 to 350 .mu.m and use as a neurotransmitter GABA, associated with the parvalbumin in more than 60% of the neurons. The existence of a small population of cholinergic neurons has also been described. The pallidal neurons are much less numerous than the striatal neurons, suggesting a significant convergence striato cogwheellike mapping tridimensionnellepar reveals the significant volume reduction of a nucleus to another: the volume of the ST is estimated at 9941 [mm.sup.3], including NC: 4316 [mm.sup.3] and P: 5625 [mm.sup.3] GPe 808 [mm.sup.3] (ST / 12), the GPi 478 [mm.sup.3] (ST / 21), the SN: 412 [mm.sup.3] (ST / 25) and the STN 158 [mm.sup.3] (ST / 63) (Figure 3).

In the literature that are not many reports of these surgeries, however, the majority are single case reports and small series (1-53). The etiologies of dystonia treated were quite varied, as were the surgical methods employed.

From these reports, it is clear that DBS can produce dramatic improvement in many, but not all, patients. From these reports, DYT1 (Table 1) patients responded better than secondary dystonias (54-58). There is, however, significant variability within any category of the disorder, making it difficult to prognosticate for an individual patient.

The proposed of a meta-analysis besides the integration of findings to determine which factors significant influence outcome related to the target of the individual study. While often used to integrate the findings of randomized controlled trials, meta-analysis also can be applied to integrate the findings of small case series in order to create a synthesis of the literature and to answer questions that cannot be answered studies individually. This type of analysis necessitates certain prerequisites: 1) formulation of a purpose and specification of an outcome; 2) identification of relevant studies; 3) data analysis, and 4) dissemination of the results and conclusions (59).

Material and Methods

The study was done with statistical analysis by intention to treat. Statistical analysis was made with a significant p- value of 0.05. For the comparison of pre- and postoperative scores, a test Wilcoxon signed was used.

Computerized MEDLINE searches on English literature were conducted using combination of text words: dystonic diskinetic syndrome, dystonia, stereotactic and functional neurosurgery, electric stimulation, movements disorders. All articles describing the surgical treatment of dystonia, age at surgery, gender, distribution of the dystonia, etiology of dystonia, presence of associated features (such as tremor or myoclonus), abnormality of preoperative imaging, prior stereotactic surgeries.

Results

We reviewed 127 patients in 24 studies had individual BFM scores. The mean BFM score percentage change, or improvement in postoperative score from baseline, was 46.3% with a range of 34% to 100%. The percentage change in BFM score and ranged for each etiology.

The surgery target the globus pallidum internus (GPi) in 118 Cases, the posterior portion of the ventral lateral (VLp) nucleus of the thalamus in 9 cases, and a combination of GPi and VLp in one case.

Etiology of dystonia, duration of dystonia, and nucleus stimulated were significantly correlated with percentage change in the BFM score while the following factors we assumed did not influence outcome: age on onset of dystonia, age at surgery, gender, distribution of the dystonia, presence of associated features (such as tremor or myoclonus), abnormal preoperative MRI, prior stereotactic surgeries, type of anesthesia used.

Stimulation of GPi was associated with better outcomes compared to stimulation of VLp (p < 0.05). The 118 subjects with GPi DBS had an average improvement in BFM scores of 67.8 [+ or -] 11.7 and the Nine patients with VLp DBS had an average improvement of 17% [+ or -] 11.7%. This between-group difference was statistically Significant (p < 0.05).

The etiology of the dystonia had a significant effect on outcome. Person with PKAN (p < 0.05) tardive dyskinesia (p < 0.05), or DYT1 (p < 0.05) had significantly better outcomes than inidviduals with cerebral palsy. Encephalitis was associated with significantly worse outcome than DYT1 dystonia (p < 0.05). There were no significant differences between inidivduals with DYT1, PKAN, idiopathic dystonia, tardive dyskinesia, or posttraumatic dystonia. Table 2.

Discussion

From a historical point of view, it should be noted that the influence of electrical stimulation of the GPi and thalamus in treating dystonia, essential tremor and Parkinson's disease had already been reported by the end Hassler 50s. Indeed, he was using electrical stimulation of target structures before lesional procedure as a measure of physiological target validation.

There have been several excellent literature reviews on the topic of DBS for dystonia (54-58); however, one of these reviews is based on the statistical analyses of the patient data across different series.

The incorporation of individual patient characteristics and outcomes into an SPSS database has allowed us to perform stastistical analyses of patients across centers. Due to the relative rarify of these patients, several papers have noted the difficulty in any one center being able to individually incorporate enough patient in all etiologic categories.

This meta-analysis of existing patient data represents a means of obtaining an understanding of the effect of a complex treatment (DBS) on a rare and complex syndrome(dystonia). Using this approach, we were associated with outcomes of DBS for dystonia and etiology.

Deep brain stmulation was less effective in the birth injury group as compared to the three most favorable groups: DYT1, PKAN, and tardive dystonia. There were no significant diference between-group differences fro DYT1, PKAN, idiophatic dystonia, tardive dyskinesia, or postraumatic dystonias.

Secondary dystonia had been previously considered a single entity; however, these results revealed significant differences in outcomes within this category. Patients with tardive dyskinesia demonstrated significantly better outcomes than patients with birth injury. Importantly there were poor outcomes in all groups.

Conclusion

Globus pallidus internus stimulation resulted in significant improvement in BFM outcome scores for patients with DYT1 negative or positive dystonia, PKAN, idiophatic dystonia, tardive dystonia, posttraumatic dystonias, and cerebral palsy. The degree of improvement in cerebral palsy was significantly less than the others etiologies, as the primary dystonias. For these etiologies, GPi was a better target than VLp. Because of the negative effect of prolonged duration of symptomatology on outcome, subjects should be considered for DBS as soon as surgery is medically appropriate, meaning refractory for medications and non-invasive procedures.

In view of the heterogeneous data, a prospective study with a large cohort of patients in a standardized setting with a multidisciplinary approach would be helpful in further evaluating the role of GPI deep brain stimulation (Figure 4) in primary and secondary dystonia and a long time follow up.

Recibido: 17 de septiembre de 2016

Aceptado: 20 de octubre de 2016

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Corresponding author:

Paulo Henrique Pires de Aguiar

Adress: Rua David Ben Gurion, 1077, apto 11, Morumbi, Sao Paulo, CEP 05634-001, Sao Paulo--Brazil.

Phone: +55 (11) 3259-1269 | +55 (11) 32591269

phpaneurocir@gmail.com

Ana Maria Ribeiro de Moura [1,4], Paulo Henrique Pires de Aguiar [1,2,3,4], Luana Ajala Christiano [2], Camila Pereira Barretto [2], Giovanna Matricardi [2], Debora Sacoman [2], Camila Amaral [2], Joao Augusto Silva de Aquino [1], Fabio Nakasone [4], Renata Simm [4], Samuel Simis [2]

[1] Regional Hospital of Sorocaba--Pontifical Catholic University of Sorocaba, Sao Paulo.

[2] Department of Medicine, Division of Neurology, Pontifical Catholic University of Sorocaba, Sao Paulo.

[3] Department of Surgery, Federal University of Rio Grande do Sul, Brazil.

[4] Division of Neurology and Neurosurgery of Santa Paula Hospital, Sao Paulo, Brazil.

Caption: Figure 1. The dendrites of pallidal neurons (Yelnik, Francois et al. 1991).

Caption: Figure 2. Neural pallidal. GP = Globus Pallidus, CPu = Caude--putamen (Solbu, Bjorkmo et al. 2010).

Caption: Figure 3. Rear view of NGC humans (mediolateral horizontal axis, vertical axis, dorsoventral, CD (caudate, blue ring), PU (putamen, light blue), GPe (dark green), GPi (light green), NST (red), SNr (yellow) (after Yelnik et al., 2007).

Caption: Figure 4. Ideal placement of electrode in GPI for Dystonia (from Meditronic).
Table 1.
Monogenic forms of dystonia. According to Schmidt et al., 2010
(Schmidt and Klein 2010)

Designation   Dystonia type

DYT1          Early-onset generalized torsion dystonia (TD)
DYT2          Autosomal recessive TD
DYT3          X-Iinkeed dystonia parkisonism; 'lubag'
DYT4          'Non-DYTI' TD: whispering dysphonia
DYT5a         Dopa-responsive dystonia. Segawa
DYT14         syndrome
DYT5b
DYT6          Adolescent-onset TD of mixed type
DYT7          Adult-onset focal TD
DYT8          Paroxysmal non-kinesigenic dyskinesia
DYT9          Paroxysmal choreoathetosis with episodic ataxia
                and spasticity
DYT10         Paroxysmal kinesigenic choreoathetosis
DYT11         Myoclonus-dystoma
DYT12         Rapid-onset dystonia parkinsonism
DYT13         Multifocal/segmental dysionia
DYT14         Dopa-responsive dystonia
DYT5
DYT15         Myoclonus-dystonia
DYT16         Young-onset dystonia-(parkinsonism)
DYT17         Autosomal recessive primary TD
DYT18         Paroxysmal exertion-induced dyskinesia 2
DYT19         Episodie kinesigenic dyskinesia 2
DYT20         Paroxysmal non-kinesigenic dyskinesia 2

Designation   Mode of inheritance       Gene
                                        locus

DYT1          Autosomal dominant        9q
DYT2          Autosomal recessive       Unknown
DYT3          X-chromosomal recessive   Xq
DYT4          Autosomal dominant        Unknown
DYT5a         Autosomal dominant        14q
DYT14         Autosomal recessive       11p
DYT5b
DYT6          Autosomal dominant        8p
DYT7          Autosomal dominant        18p
DYT8          Autosomal dominant        2q
DYT9          Autosomal dominant        1p
DYT10         Autosomal dominant        16p-q
DYT11         Autosomal dominant        7q
DYT12         Autosomal dominant        19q
DYT13         Autosomal dominant        1p
DYT14         Autosomal dominant        14q
DYT5
DYT15         Autosomal dominant        18p
DYT16         Autosomal recessive       2p
DYT17         Autosomal recessive       20pq
DYT18         Autosomal dominant        1p
DYT19         Autosomal dominant        16q
DYT20         Autosomal dominant        2q

Designation   Gene                             OMIM
                                               number

DYT1          GAG deletion in DYT1, Torsin A   128100
DYT2          Unknown                          224500
DYT3          Gene transcription factor TAF1   314250
DYT4          Unknown                          128101
DYT5a         GTP-cyclohydro-lase              128230
DYT14         Tyrosine hydroxylase
DYT5b
DYT6          THAPI                            602629
DYT7          Unknown                          602124
DYT8          Myofibrillogenesis regutator 1   118800
DYT9          Unknown                          601042

DYT10         Unknown                          128200
DYT11         Epsilon-sarcogly-can             159900
DYT12         Na/K AT Pase alpha 3             128235
DYT13         Unknown                          607671
DYT14         GTP-cyclohydro-lase              607195
DYT5
DYT15         Unknown                          607488
DYT16         Stress-response protein PRKRA    603424
DYT17         Unknown                          612406
DYT18         Glucose transporter SLC2A1       612126
DYT19         Unknown                          611031
DYT20         Unknown                          607488

Table 2.
Comparison of Preoperative and Postoperative BFM Scores

Etiology            n     Preop   Postop   Change (%)   p value

DYT1                34    61.1     20.4       67.8      p < 0.05
Primary unspec      40    49.6     27.9       44.5      p < 0.05
Idiophatic          18    38.3     17.6        48       p < 0.05
Neonatal anoxic      8    71.7     54.5        17       p < 0.05
Tardive dystonia    11    39.4     16.5       64.7      p < 0.05
Posttraumatic        4     38       17         47       p < 0.05
PKAN                 9    74.1     18.6       70.4      p < 0.05
Encephalitis         3     49      41.3       11.7      p < 0.10
Overall            127    52.6     26.7       46.3      p < 0.05
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Author:Ribeiro de Moura, Ana Maria; Pires de Aguiar, Paulo Henrique; Ajala Christiano, Luana; Pereira Barre
Publication:Revista Chilena de Neurocirugia
Date:Jan 1, 2017
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