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1.
J Bodyw Mov Ther ; 37: 278-282, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-38432818

RESUMO

INTRODUCTION: Acute interscapular pain is a frequent postoperative complication observed in patients who have undergone median sternotomy. This study aimed to assess a novel approach to manual therapy utilizing the Regional Interdependence (RI) concept for managing interscapular pain in post-sternotomy patients. MATERIALS AND METHODS: In an observational study, a cohort of 60 consecutively admitted patients undergoing median sternotomy was enrolled. Data collection involved standardized clinical evaluations conducted at specific time points: prior to manual treatment (T0), following five manual treatments (T5), and at post-treatment days 10 (T10) and 30 (T30). The Experimental Group (EG) received manual treatment based on the RI concept, performed in a seated position to accommodate individual clinical conditions and surgical wound considerations. The Control Group (CG) received simulated treatment involving identical exercises to the EG but lacking the physiological or biomechanical stimulation. RESULTS: Among the initial 60 patients, 36 met the inclusion criteria, while 24 were excluded due to one or more exclusion criteria. Treatment outcomes revealed a statistically significant improvement in the EG compared to the CG, not only in terms of pain reduction but also in functional recovery and consequent disability reduction. DISCUSSION: The RI concept emerges as a potentially valuable therapeutic approach for addressing interscapular dysfunction, particularly in highly complex post-sternotomy patients. This study highlights the clinical relevance of the RI concept in the management of interscapular pain and highlights its potential utility in improving patient outcomes in the challenging context of sternotomy surgery.


Assuntos
Dor Aguda , Procedimentos Cirúrgicos Cardíacos , Manipulações Musculoesqueléticas , Humanos , Esternotomia/efeitos adversos , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Manejo da Dor
2.
Artigo em Inglês | MEDLINE | ID: mdl-38258887

RESUMO

STUDY DESIGN: Retrospective, observational study. OBJECTIVE: To determine the relationship between the Goutallier Classification System (GS) and anthropometric, clinical, and radiological features in 168 patients with lumbar spinal stenosis (LSS). BACKGROUND: There is no agreement on a classification system that is both reliable and easy to use for describing the severity of fatty degeneration in the paravertebral muscles of the lower back in patients with symptomatic lumbar spinal stenosis. This study aimed to determine the statistical relationship between the GS and anthropometric, clinical, and radiological factors in 168 patients with LSS. METHODS: This study was conducted on 168 patients with LSS scheduled for elective decompressive surgery. A control group of 110 healthy individuals was enrolled. The study assessed paralumbar musculature fatty infiltration using GS on preoperative Magnetic Resonance Imagin (MRI). We evaluated the statistical association between patient age, Body Mass Index (BMI), preoperative Oswestry Disability Index (ODI) questionnaire, and cross-sectional areas (CSAs) of the dural sac and lumbar paraspinal muscles. Multivariate analysis was performed to adjust for confounding. RESULTS: This study enrolled 168 patients with symptomatic LSS (95 men, 73 women; mean±standard deviation; range); age: 67,81±9,38; (32,78 - 92,34) years; BMI: 28,29±3,36; (19,95 - 38,10) kg/m2. The control group was comprised of 110 healthy patients (61 men and 49 women). Age, sex, BMI, and ES-CSA were not significantly different between the two groups. We found a direct relationship between GS grade and age, and an inverse relationship between GS grade and DS-, LM-, ES-, and PM-CSAs. (Table 2 and Fig. 5). Univariate analyses showed the variables statistically related to a higher GS grade included patient age, (P<0.001), ODI (P=0.136), DS-CSA (P=0.011), LM-CSA (P< 0.001), ES-CSA (P<0.001), and PM-CSA (P<0.001). Multivariate least squares analysis showed the GS grade to be influenced by patient age (P=0.01), LM-CSA (P=0.002), ES-CSA (P=0.002), and PM-CSA (P=0.003). CONCLUSIONS: GS shows great potential as a tool for evaluating fat infiltration in the paralumbar muscles. This measure does not correlate with the ODI and BMI, but is related to all radiological parameters and patient age. Further prospective studies are required to establish a link between preoperative and postoperative outcomes in the setting of paraspinal fat infiltration.

3.
J Neurosurg Spine ; 40(2): 125-131, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-37890188

RESUMO

OBJECTIVE: Lumbar spinal stenosis (LSS) is a disabling degenerative process of the spine, mainly affecting older patients. LSS manifests with low-back and leg pain and neurogenic claudication. Disability and impairment in activities of daily living are consequences of the progressive narrowing of the lumbar spinal canal. Surgical decompression has been shown to be superior to conservative management. Nonetheless, intraoperative and postoperative blood loss in elderly patients taking antiplatelet or anticoagulant drugs owing to cardiovascular comorbidities may be a special issue. This study describes and compares early outcomes after surgical procedures in different groups of patients receiving antithrombotic drugs. METHODS: The authors' study retrospectively recruited 289 consecutive patients aged ≥ 65 years who received lumbar decompression for spinal stenosis between January 2021 and May 2022. First, 183 patients taking antiplatelet therapy were divided into two groups according to the rationale for use: primary versus secondary prophylaxis of cardiovascular events (group 1 vs group 2). Primary prevention was stopped preoperatively, or secondary prevention was not discontinued during the perioperative period. Secondly, 106 patients who were not taking antiplatelet mediation were divided into two groups, depending on whether preoperative low-molecular-weight heparin had not been administered or had been (group A vs group B). Intraoperative blood loss, surgical time, and postoperative hospitalization were analyzed. RESULTS: No significant statistical differences were observed between groups 1 and 2 in terms of intraoperative blood loss and time of surgery, or between groups A and B in terms of all analyzed variables. No early or delayed complications were observed, perioperatively or during the postoperative 3-month follow-up period. CONCLUSIONS: The results of this study suggest that the use of anticoagulant and antiplatelet therapies in elective decompressive surgery could be devoid of early complications and could be safely continued perioperatively.


Assuntos
Estenose Espinal , Idoso , Humanos , Estenose Espinal/complicações , Constrição Patológica/cirurgia , Fibrinolíticos/uso terapêutico , Estudos Retrospectivos , Perda Sanguínea Cirúrgica , Atividades Cotidianas , Descompressão Cirúrgica/métodos , Vértebras Lombares/cirurgia , Resultado do Tratamento
4.
Acta Neurochir (Wien) ; 165(12): 3947-3957, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37932635

RESUMO

BACKGROUND: The weakening of paraspinal muscles in the paravertebral area may play a role in developing central lumbar spinal stenosis, resulting in lower back discomfort. OBJECTIVE: The study thoroughly examined the correlation between the Oswestry Disability Index, Dural Sac cross-sectional area, Schizas grading Scale, Body Mass Index, and the cross-sectional areas of Erector Spinae, Multifidus, and Psoas muscles. The findings were also compared between patients with central Lumbar Spinal Stenosis and healthy individuals. STUDY DESIGN: Retrospective monocentric observational study. METHODS: The study recruited 168 consecutive patients aged 60 or older diagnosed with central Lumbar Spinal Stenosis between January 2020 and July 2022. The patients' condition was evaluated by administering a preoperative Oswestry Disability Index questionnaire, measuring their Body Mass Index, and performing preoperative Magnetic Resonance Imaging. The analyzed parameters were the cross-sectional area of paraspinal muscles at the L4-L5 level, dural sac cross-sectional area, and Schizas grading Scale at the most stenotic level, using multiple linear univariate analyses. Two groups of healthy individuals were recruited: Group A (under 60 years old) and Group B (over 60 years old). The same data extrapolated from these groups were compared with those of patients with central lumbar stenosis using a two-tailed Mann-Whitney test. RESULTS: As the Erector Spinae degenerates, the Oswestry Disability Index tends to increase. Similarly, an increase in Body Mass Index is often accompanied by a decrease in the cross-sectional area of the Erector Spinae. Low dural sac cross-sectional area is statistically linked to a reduced Multifidus cross-sectional area. Interestingly, the Schizas grading scale does not appear to correlate with changes in the cross-sectional area of the paraspinal muscles. Additionally, there is no significant difference in the cross-sectional area of the Psoas muscle between individuals with central lumbar spinal stenosis and healthy individuals. CONCLUSIONS: Our study found that degeneration of the Erector Spinae plays a crucial role in the progression of perceived disability in Lumbar Spinal Stenosis. Prospective studies should investigate the long-term evolution of paraspinal muscles in decompressed patients.


Assuntos
Estenose Espinal , Humanos , Pessoa de Meia-Idade , Estenose Espinal/diagnóstico por imagem , Estenose Espinal/cirurgia , Estudos Retrospectivos , Músculos Paraespinais/diagnóstico por imagem , Músculos Paraespinais/patologia , Estudos Prospectivos , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/cirurgia , Vértebras Lombares/patologia , Imageamento por Ressonância Magnética
5.
Brain Sci ; 13(9)2023 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-37759844

RESUMO

Postural instability (PI) in Parkinson's disease (PD) exposes patients to an increased risk of falls (RF). While dopaminergic therapy and deep brain stimulation (DBS) improve motor performance in advanced PD patients, their effects on PI and RF remain elusive. PI and RF were assessed using a stabilometric platform in six advanced PD patients. Patients were evaluated in OFF and ON dopaminergic medication and under four DBS settings: with DBS off, DBS bilateral, and unilateral DBS of the more- or less-affected side. Our findings indicate that dopaminergic medication by itself exacerbated PI and RF, and DBS alone led to a decline in RF. No combination of medication and DBS yielded a superior improvement in postural control compared to the baseline combination of OFF medication and the DBS-off condition. Yet, for ON medication, DBS significantly improved both PI and RF. Among DBS conditions, DBS bilateral provided the most favorable outcomes, improving PI and RF in the ON medication state and presenting the smallest setbacks in the OFF state. Conversely, the more-affected side DBS was less beneficial. These preliminary results could inform therapeutic strategies for advanced PD patients experiencing postural disorders.

6.
Am J Phys Med Rehabil ; 102(3): 270-274, 2023 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-35880770

RESUMO

INTRODUCTION: Postural instability is one of the latest clinical manifestations of Parkinson disease. Because of the limited therapeutic effect of pharmacological therapies, a favorable consideration has now become toward rehabilitation interventions. Thus, this study aimed to synthesize literature evidence to summarize the effects of rehabilitation interventions for improving balance in Parkinson disease. MATERIALS AND METHODS: We conducted a narrative review of randomized-controlled clinical trials comparing the effects of interventions, control interventions, and no interventions on balance-related outcomes. A comprehensive search using the MEDLINE database was conducted from January 2000 to September 2021. This review included the following causes of balance-related impairments: inability to control body weight in the base of support, impaired attention and focus on balance, postural deformities, proprioceptive deficiency, sensory-motor integration, and coordination disorders, including visual and auditory-motor coordination. RESULTS: Twenty randomized-controlled clinical trials were included in the review. Various balance-related outcomes were included. The included studies focused on the effectiveness of different rehabilitation interventions, including physical therapy, virtual reality and telerehabilitation, treadmill training, hydrotherapy, action observation training, balance and cues training interventions, and cognitive rehabilitation. CONCLUSIONS: The results suggest that most of the included rehabilitation interventions have promising therapeutic effects in improving balance in Parkinson disease.


Assuntos
Doença de Parkinson , Telerreabilitação , Humanos , Doença de Parkinson/reabilitação , Equilíbrio Postural , Modalidades de Fisioterapia , Telerreabilitação/métodos , Propriocepção
7.
Neurol Sci ; 43(1): 691-696, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34462809

RESUMO

INTRODUCTION AND SCOPE: Language is one of the main tools with whom people describe their pain. The semantic value of words plays a fundamental role in the pain perception, intended as a complex process of modulation and processing in the brain. The priming effect is a cognitive process in which a certain stimulus can influence subsequent stimuli. It is therefore plausible that this effect plays a key role in the modulation and perception of pain. This study aimed to investigate the potential relationship between the semantic aspects of language, the priming effect, and the perception of pain. METHODS AND RESULTS: A narrative review of the literature was conducted. Sixteen studies were included and categorized in four groups based on the effect of the verbal suggestion on the experimental acute pain and chronic pain and on the effect of pain-related words in free pain and post-surgical subjects. CONCLUSIONS: There may be a link between language and pain, both at the behavioral and neural level. The processing of semantic information associated with pain influences the pain perception.


Assuntos
Percepção da Dor , Semântica , Encéfalo , Mapeamento Encefálico , Humanos , Dor
8.
Innov Clin Neurosci ; 18(1-3): 39-42, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34150363

RESUMO

OBJECTIVE: In Parkinson's disease (PD), postural abnormalities such as lateral axial dystonia (LAD) are relatively common. Evidence suggests that both peripheral and central mechanisms contribute to these postural abnormalities. We previously reported an improvement in LAD following the use of prisms in two PD patients. Here, we further investigate the effects of prismatic lenses in a case series of nine patients with PD and LAD. METHODS: Nine patients underwent an orthoptic evaluation and were provided with prismatic lenses. Patients were evaluated at baseline and after one and three months of permanent prismatic lens use and again re-evaluated one month after the discontinuation of prismatic lens use. RESULTS: We found a linear relationship between disease duration and LAD severity. Compared to basal measurements, we observed a slight improvement in LAD. Furthermore, we found a significant reduction in self-perceived back pain due to the use of prismatic lenses. There was no significant association between the individual effects of prismatic lenses in patients with PD and their baseline LAD or other clinical and demographic features (all P>0.05). CONCLUSION: The present pilot study provides novel data on the possible effectiveness of prismatic lenses for LAD treatment in PD patients.

9.
J Neurol Sci ; 405: 116411, 2019 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-31476620

RESUMO

BACKGROUND: The impact of deep brain stimulation (DBS) on cognitive and urinary disorders, falls, and eventually hospitalizations and mortality in Parkinson's disease (PD) is still debated. OBJECTIVE: We compared the rates of dementia, mild cognitive impairment (MCI), urinary incontinence, nocturia, falls, hospitalizations, and mortality in a cohort of PD patients undergoing DBS with a cohort of medically-treated patients chosen as controls. METHODS: We conducted a retrospective pilot study in six Italian DBS centers. 91 PD patients receiving DBS and 91 age- and gender-matched controls receiving the best medical treatment alone with a minimum follow-up of one year were enrolled. Clinical data were collected from baseline to the last follow-up visit using an ad-hoc developed web-based system. RESULTS: The risk of dementia was similar in the two groups while patients in the surgical cohort had lower rates of MCI, urinary incontinence, nocturia, and falls. In contrast, the risk of hospital admissions related to PD was higher in the surgical cohort. However, when excluding hospitalizations related to DBS surgery, the difference between the two cohorts was not significant. The surgical cohort had a lower number of hospitalizations not related to PD. The risk of death was similar in the two groups. CONCLUSION: Despite a higher risk of hospitalization, patients receiving DBS had a lower rate of MCI, urinary incontinence, nocturia and falls, without evidence of an increased risk of dementia and mortality. Although these findings need to be confirmed in prospective studies, they seem to suggest that DBS may play a significant role in the management of non-motor symptoms and common complications of advanced PD.


Assuntos
Estimulação Encefálica Profunda/estatística & dados numéricos , Doença de Parkinson/terapia , Idoso , Estudos de Casos e Controles , Feminino , Hospitalização/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/diagnóstico , Doença de Parkinson/mortalidade , Projetos Piloto , Estudos Retrospectivos
10.
Neurol Sci ; 40(9): 1925-1926, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31257551

RESUMO

The published version of this article unfortunately contained a mistake in Table 2. CGI-S and CGI-I values has been interchanged. The Table is corrected here.

11.
Neurol Sci ; 40(9): 1917-1923, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31111272

RESUMO

Continuous subcutaneous apomorphine infusion (CSAI) is a well-recognized therapeutic option for the management of motor fluctuations in Parkinson's disease (PD), although clinical experience suggests that most patients discontinue CSAI after a variable amount of time due to several causes and circumstances. The objective of the present study was to evaluate the reasons of CSAI discontinuation and to investigate which treatment was adopted afterwards. Two independent raters retrospectively reviewed the electronic medical record of 114 patients treated with CSAI for at least 6 months. The records were reviewed regarding efficacy, safety, and evolution of CSAI treatment. Most of PD patients on CSAI had a significant improvement in their clinical condition. Lack of improvement of dyskinesia was the most frequent causes of treatment discontinuation. The second reason for CSAI discontinuation was cognitive deterioration. At CSAI discontinuation, younger patients were more likely to undergo deep brain stimulation (DBS), while older patients and patients with cognitive impairment were more likely switched to oral therapy alone (OTA). CSAI is an effective treatment that unfortunately must be discontinued in a great number of patients with advanced PD. As older age is the main limiting factor for accessing second-level therapies at CSAI discontinuation, CSAI treatment should not be postponed to older age. CSAI might be considered a good first-line and fast strategy in patients undergoing rapid deterioration of their quality of life while waiting for DBS or levodopa/carbidopa intestinal gel therapy.


Assuntos
Apomorfina/farmacologia , Agonistas de Dopamina/farmacologia , Infusões Subcutâneas , Adesão à Medicação , Doença de Parkinson/terapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Apomorfina/administração & dosagem , Apomorfina/efeitos adversos , Carbidopa/administração & dosagem , Disfunção Cognitiva , Estimulação Encefálica Profunda , Agonistas de Dopamina/administração & dosagem , Agonistas de Dopamina/efeitos adversos , Combinação de Medicamentos , Substituição de Medicamentos , Registros Eletrônicos de Saúde , Feminino , Humanos , Levodopa/administração & dosagem , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/tratamento farmacológico , Doença de Parkinson/fisiopatologia , Estudos Retrospectivos
12.
Front Neurol ; 9: 1149, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30666229

RESUMO

Despite the relevance of inhibitory control in shaping our behavior its neural substrates are still hotly debated. In this regard, it has been suggested that inhibitory control relies upon a right-lateralized network which involves the right subthalamic nucleus (STN). To assess the role of STN, we took advantage of a relatively rare model, i.e., advanced Parkinson's patients who received unilateral deep-brain stimulation (DBS) of the STN either of the left (n = 10) or of the right (n = 10) hemisphere. We gave them a stop-signal reaching task, and we compared patients' performance in two experimental conditions, DBS-ON and DBS-OFF. In addition, we also tested 22 age-matched healthy participants. As expected, we found that inhibitory control is impaired in Parkinson's patients with respect to healthy participants. However, neither reactive nor proactive inhibition is improved when either the right or the left DBS is active. We interpreted these findings in light of the fact that previous studies, exploiting exactly the same task, have shown that only bilateral STN DBS restores a near-normal inhibitory control. Thus, although null results have to be interpreted with caution, our current findings confirm that the right STN does not play a key role in suppressing pending actions. However, on the ground of previous studies, it is very likely that this subcortical structure is part of the brain network subserving inhibition but to implement this executive function both subthalamic nuclei must be simultaneously active. Our findings are of significance to other researchers studying the effects of STN DBS on key executive functions, such as impulsivity and inhibition and they are also of clinical relevance for determining the therapeutic benefits of STN DBS as they suggest that, at least as far as inhibitory control is concerned, it is better to implant DBS bilaterally than unilaterally.

13.
NeuroRehabilitation ; 41(2): 423-428, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28946570

RESUMO

BACKGROUND: Pisa syndrome (PS) or lateral axial dystonia is often seen in patients with Parkinson's disease (PD). It is characterized by a marked and reversible lateral flexion of the trunk (LFT) more than 10°. OBJECTIVE: To assess the effectiveness of a program of postural exercises and assess the effectiveness in term of pattern of muscular hyperactivity. METHODS: A total of 6 patients with PD and PS enrolled in the program of 10 sessions of postural exercise (90 min/session). EMG of thoraco-lumbar paraspinal muscles was performed to detect the pattern of muscular hyperactivity. Outcomes were examined using the Unified Parkinson's Disease Rating Scale part II and part III, degree of LFT and Visual Analogues Scale for back pain. RESULTS: EMG showed two patterns of muscular hyperactivity; ipsilateral to the bending side and contralateral to the bending side. The exercise improved the outcomes in both groups. Patients with muscular hyperactivity ipsilateral to the bending side gained more improvements. CONCLUSION: Our results show that the exercise may be considered as a possible treatment for patients with PD and PS irrespective of the pattern of muscular activation. The effectiveness of exercise differed according to the pattern of muscular activation.


Assuntos
Terapia por Exercício , Doença de Parkinson/terapia , Eletromiografia , Humanos , Músculo Esquelético/fisiopatologia , Projetos Piloto
14.
World Neurosurg ; 89: 320-8, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26805677

RESUMO

OBJECTIVE: The α2 agonist dexmedetomidine (DEX) is an anesthetic agent that can provide sedation and analgesia without respiratory depression or changes in neuronal activity during microrecordings. The aim of our study was to confirm the efficacy and safety of anesthesia with DEX for unilateral deep brain stimulation of the subthalamic nucleus (STN) in patients with Parkinson disease. METHODS: In 2013 and 2014, a series of 11 consecutive patients received continuous low-dose DEX infusion during unilateral deep brain stimulation of the STN. Intraoperative microrecordings, stimulation results, and patient reaction times in executing verbal and motor tasks were retrospectively analyzed. Functional outcomes were evaluated by comparing preoperative and 1-year postoperative Unified Parkinson's Disease Rating Scale Part III scores. RESULTS: Typical activity of the STN was recorded in all patients, and the delay in the execution of both motor and verbal tasks was ≤2 seconds. No hemorrhagic complications occurred, and no postoperative side effects were observed. The mean percentage of Unified Parkinson's Disease Rating Scale Part III improvement at last follow-up was 39.01% (range, 23.70%-55.60%). The mean percentage of levodopa equivalent dose reduction was 45.86% (range, 21.50%-65.70%). CONCLUSIONS: The results of our study confirm that the use of DEX in managing patients with Parkinson disease during unilateral deep brain stimulation of the STN is safe and effective and can be considered a promising option for sedation during this type of procedure.


Assuntos
Estimulação Encefálica Profunda/métodos , Dexmedetomidina/uso terapêutico , Hipnóticos e Sedativos/uso terapêutico , Doença de Parkinson/terapia , Núcleo Subtalâmico/efeitos dos fármacos , Núcleo Subtalâmico/fisiopatologia , Agonistas de Receptores Adrenérgicos alfa 2/uso terapêutico , Idoso , Antiparkinsonianos/uso terapêutico , Feminino , Seguimentos , Humanos , Monitorização Neurofisiológica Intraoperatória , Masculino , Pessoa de Meia-Idade , Atividade Motora/efeitos dos fármacos , Atividade Motora/fisiologia , Testes Neuropsicológicos , Doença de Parkinson/fisiopatologia , Tempo de Reação , Estudos Retrospectivos , Índice de Gravidade de Doença , Fala/efeitos dos fármacos , Fala/fisiologia , Resultado do Tratamento
16.
Parkinsons Dis ; 2015: 546462, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26635992

RESUMO

Background. Parkinson's disease (PD) is mostly characterized by alpha-synuclein (SNCA) aggregation and loss of nigrostriatal dopamine-containing neurons. In this study a novel SNCA multiplication is described in two siblings affected by severe parkinsonism featuring early onset dyskinesia, psychiatric symptoms, and cognitive deterioration. Methods. SNCA dosage was performed using High-Density Comparative Genomic Hybridization Array (CGH-Array), Multiple Ligation Dependent Probe Amplification (MLPA), and Quantitative PCR (qPCR). Genetic analysis was associated with clinical evaluation. Results. Genetic analysis of siblings showed for the first time a 351 Kb triplication containing SNCA gene along with 6 exons of MMRN1 gene in 4q22.1 and a duplication of 1,29 Mb of a genomic region flanking the triplication. Conclusions. The identification of this family indicates a novel mechanism of SNCA gene multiplication, which confirms the genomic instability in this region and provides data on the genotype-phenotype correlation in PD patients.

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