RESUMO
Benign hereditary chorea (BHC) is an inherited neurological disorder consisting of childhood-onset, nonprogressive chorea, generally without any other manifestations. In most reported cases, the inheritance of BHC is autosomal dominant but both incomplete penetrance and variable expressivity are observed and can be caused by NKX2-1 mutations. The spectrum contains choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress syndrome. The neurological symptoms can be misdiagnosed as Huntington's disease (HD). The two Polish families were diagnosed with NKX2-1 gene mutations and a literature review concerning the NKX2-1-related disorders was conducted. All family members were examined by experienced movement disorders specialists. PubMed database was searched to obtain previously described NKX2-1 cases. Whole exome sequencing (WES) was performed in one proband (Family A) and direct NKX2-1 sequencing in the second (Family B). Two Polish families were diagnosed with NKX2-1 gene mutations (p.Trp208Leu and p.Cys117Alafs*8). In one family, the co-occurrence of HD was reported. Forty-nine publications were included in the literature review and symptoms of 195 patients with confirmed NKX2-1 mutation were analyzed. The most common symptoms were chorea and choreiform movements, and delayed motor milestones. The NKX2-1 mutation should always be considered as a potential diagnosis in families with chorea, even with a family history of HD. Lack of chorea does not exclude the NKX2-1-related disorders.
RESUMO
Spinocerebellar ataxia type 3 (SCA3) is the most common type of disease related to poly-glutamine (polyQ) repeats. Its hallmark pathology is related to the abnormal accumulation of ataxin 3 with a longer polyQ tract (polyQ-ATXN3). However, there are other mechanisms related to SCA3 progression that require identifying trait and state biomarkers for a more accurate diagnosis and prognosis. Moreover, the identification of potential pharmacodynamic targets and assessment of therapeutic efficacy necessitates valid biomarker profiles. The aim of this review was to identify potential trait and state biomarkers and their potential value in clinical trials. Our results show that, in SCA3, there are different fluid biomarkers involved in neurodegeneration, oxidative stress, metabolism, miRNA and novel genes. However, neurofilament light chain NfL and polyQ-ATXN3 stand out as the most prevalent in body fluids and SCA3 stages. A heterogeneity analysis of NfL revealed that it may be a valuable state biomarker, particularly when measured in plasma. Nonetheless, since it could be a more beneficial approach to tracking SCA3 progression and clinical trial efficacy, it is more convenient to perform a biomarker profile evaluation than to rely on only one.
Assuntos
Biomarcadores , Doença de Machado-Joseph , Humanos , Doença de Machado-Joseph/genética , Doença de Machado-Joseph/metabolismo , Doença de Machado-Joseph/patologia , Ataxina-3/genética , Ataxina-3/metabolismo , Proteínas de Neurofilamentos/metabolismo , Peptídeos/metabolismo , Progressão da Doença , Estresse OxidativoRESUMO
INTRODUCTION: Advances in sequencing technologies have enabled extensive genetic testing on an individual basis. Genome-wide association studies (GWAS) have provided insight into the pathophysiology of PD. Additionally, direct-to-consumer genetic testing has enabled the identification of genetic diseases and risk factors without genetic counselling. As genetics increasingly permeates clinical practice, this paper aims to summarise the most important information on genetics in PD forclinical practitioners. STATE-OF-THE-ART: LRRK2 mutations may be found in c.1% of all PD patients with an indistinguishable phenotype from sporadic PD. LRRK2-PD is more prevalent in patients with a positive family history (5-6%) and among certain populations (e.g. up to 41% in North Africans and Ashkenazi Jews). Other familial forms include PRKN (patients with early onset, EOPD), VPS35 (Western European ancestry), PINK1 (EOPD), DJ-1 (EOPD), and SNCA. GBA mutations are found in a large number of PD patients and are associated with faster progression and a poorer prognosis. GWAS have identified 90 genetic risk variants for developing PD and several genetic modifiers for the age at onset, disease progression, and response to treatment. CLINICAL IMPLICATIONS: Multigene panels using next-generation sequencing (NGS) are the first choice for genetic testing in clinical settings. Whole exome sequencing is increasingly being used, particularly as the second-tier testing in patients with negative results of multigene panels. NGS may not detect accurately copy number variants (CNV), meaning that additional analysis is warranted. In a case of a variant of unknown significance (VUS), we suggest firstly searching the up-to-date literature. Segregation studies and in silico predictions may shed more light on the character of the VUS; however, functional studies remain the gold standard. Several interventional clinical trials are active for carriers of LRRK2 and/or GBA mutations. FUTURE DIRECTIONS: Application of artificial intelligence and machine learning will enable high-throughput analysis of large sets of multimodal data. We speculate that, in the future, the treatment landscape for PD will be similar to that in oncological conditions, in which the presence of certain gene mutations or gene overexpression determines the prognosis and treatment decision-making.
Assuntos
Doença de Parkinson , Humanos , Doença de Parkinson/genética , Doença de Parkinson/diagnóstico , Estudo de Associação Genômica Ampla , Inteligência Artificial , Testes Genéticos , Mutação/genética , Predisposição Genética para Doença/genéticaRESUMO
Mutations leading to colony-stimulating factor-1 receptor (CSF-1R) loss-of-function or haploinsufficiency cause CSF1R-related leukoencephalopathy (CRL), an adult-onset disease characterized by loss of myelin and neurodegeneration, for which there is no effective therapy. Symptom onset usually occurs in the fourth decade of life and the penetrance of disease in carriers is high. However, familial studies have identified a few carriers of pathogenic CSF1R mutations that remain asymptomatic even in their seventh decade of life, raising the possibility that the development and severity of disease might be influenced by environmental factors. Here we report new cases in which long-term glucocorticoid treatment is associated with asymptomatic status in elder carriers of pathogenic CSF-1R mutations. The main objective of the present study was to investigate the link between chronic immunosuppression initiated pre-symptomatically and resistance to the development of symptomatic CRL, in the Csf1r+/- mouse model. We show that chronic prednisone administration prevents the development of memory, motor coordination and social interaction deficits, as well as the demyelination, neurodegeneration and microgliosis associated with these deficits. These findings are in agreement with the preliminary clinical observations and support the concept that pre-symptomatic immunosuppression is protective in patients carrying pathogenic CSF1R variants associated with CRL. Proteomic analysis of microglia and oligodendrocytes indicates that prednisone suppresses processes involved in microglial activation and alleviates senescence and improves fitness of oligodendrocytes. This analysis also identifies new potential targets for therapeutic intervention.
Assuntos
Leucoencefalopatias , Receptor de Fator Estimulador de Colônias de Macrófagos , Camundongos , Animais , Prednisona/farmacologia , Proteômica , Receptores de Fator Estimulador das Colônias de Granulócitos e Macrófagos/genética , Leucoencefalopatias/genética , Leucoencefalopatias/prevenção & controle , Microglia , Receptores Proteína Tirosina Quinases , Terapia de ImunossupressãoRESUMO
BACKGROUND: There is an unmet need for the treatment of colony-stimulating factor-1 receptor (CSF1R)-related leukoencephalopathy. OBJECTIVES: To evaluate the association of glucocorticoids (GCs) with disease onset and progression in CSF1R variant carriers. METHODS: Retrospective cohort study on CSF1R variants carriers (n = 41) whose medical records were collected at Mayo Clinic Florida from 2003 to 2023. We retrieved information on sex, ethnicity, family history, medications, disease onset, course and duration, neuroimaging features, and activities of daily living (ADL). RESULTS: Risk of developing symptoms was significantly lower for individuals who used GCs (n = 8) compared to individuals who did not (n = 33) (12.5% vs. 81.8%, hazard ratio [HR] = 0.10, P = 0.036). The risk of becoming dependent in ADL was markedly lower for the GCs group (0.0% vs. 43.8%, P = 0.006). White matter lesions and corpus callosum involvement were less common in the GCs group (62.5% vs. 96.6%, P = 0.026; 37.5% vs. 84.6%, P = 0.017; respectively). CONCLUSIONS: We found a protective association of GCs in CSF1R variant carriers against developing CSF1R-related leukoencephalopathy. We call for further studies to validate our findings and investigate the potential application of GCs in CSF1R-related leukoencephalopathy. © 2023 International Parkinson and Movement Disorder Society.
Assuntos
Glucocorticoides , Leucoencefalopatias , Humanos , Glucocorticoides/uso terapêutico , Estudos Retrospectivos , Atividades Cotidianas , Mutação , Leucoencefalopatias/complicaçõesRESUMO
BACKGROUND: Coronavirus disease 2019 (COVID-19) is an infectious disease mainly affecting the respiratory system; however, a significant prevalence of neurological symptoms has been noted. OBJECTIVES: To investigate the incidence and characteristics of post-COVID-19 parkinsonism and to study dyskinesia related to COVID-19 vaccines. MATERIAL AND METHODS: The MEDLINE, PubMed, Scopus, and Web of Science databases were searched for all manuscripts relevant to post-COVID-19 parkinsonism and dyskinesia related to COVID-19 vaccines. Subsequently, we extracted and analysed data from the manuscripts in a structured manner. RESULTS: We found 24 patients with post-COVID-19 parkinsonism, with a mean onset age of 58 years after a mean of 30 days from the COVID-19 onset. Akinetic-rigid (n = 11) and mixed (n = 6) subtypes were the most common. Asymmetry was present in 13/15 patients. Brain MRI was unremarkable in 11/19, whereas dopaminergic system imaging was abnormal in 8/8 patients. Responsiveness to dopaminergic treatment was observed in 12/15 patients. Four patients improved after immunomodulatory therapy. Comorbidities were present in 9/24, encephalopathy symptoms in 11/24, and loss of smell in 9/13 patients. Most patients (n = 14) suffered serious COVID-19- related complications and three were treated with haloperidol. Parkinsonism improved (n = 5) or resolved (n = 4) during the follow-up. Five patients, with a mean age of 52, developed dyskinesia at a mean of 25 hours after receiving the COVID-19 mRNA vaccines. One patient had a history of neuropsychiatric symptoms and developed functional dyskinesia of the tongue. Four patients had a previous history of Parkinson's Disease (PD) with a mean duration of 10 years and developed dyskinesia and dystonia, which resolved (n = 2) or improved (n = 2) during the follow-up. CONCLUSIONS: Post-COVID-19 parkinsonism is a very rare complication, and it is likely that this is an umbrella syndrome that includes many different etiologies. Dyskinesia due to COVID-19 vaccines is exceedingly rare and probably has the same pathophysiological basis as in other conditions with exacerbation of PD symptoms.
Assuntos
Vacinas contra COVID-19 , COVID-19 , Discinesia Induzida por Medicamentos , Transtornos Parkinsonianos , Humanos , Pessoa de Meia-Idade , COVID-19/complicações , Vacinas contra COVID-19/efeitos adversos , Dopamina , Discinesia Induzida por Medicamentos/diagnóstico , Discinesia Induzida por Medicamentos/etiologia , Incidência , Transtornos Parkinsonianos/etiologiaRESUMO
Polyneuropathy (PNP) is a known complication of levodopa-carbidopa intestinal gel (LCIG) therapy of advanced Parkinson's Disease (PD). The overall prevalence of PNP in PD is estimated to be 42.1% (as shown in a review by Romagnolo et al. 2018), and the most common type is chronic axonal polyneuropathy. There is a group of acute/subacute onset demyelinating polyneuropathies, which is far less common, although it seems to be an important factor leading to the rapid discontinuation of LCIG treatment. In this systematic review, we present data on demyelinating polyneuropathy with acute/subacute onset; we identified nine papers including prospective assessments and case reports, with detailed information on 15 patients. In all patients, despite treatment with corticosteroids, intravenous immunoglobulins (IVIG) or plasma exchange (PE), the LCIG therapy was terminated. We also present a case of subacute demyelinating polyneuropathy with effective treatment and continuation of LCIG therapy.
Assuntos
Doença de Parkinson , Polineuropatias , Humanos , Carbidopa/efeitos adversos , Levodopa/efeitos adversos , Doença de Parkinson/tratamento farmacológico , Doença de Parkinson/complicações , Antiparkinsonianos/efeitos adversos , Estudos Prospectivos , Polineuropatias/induzido quimicamente , Combinação de Medicamentos , GéisRESUMO
We recently found that glucocorticosteroids (GCs) have protective effects in CSF1R mutation carriers against developing symptomatic CSF1R-related leukoencephalopathy. Our findings were subsequently confirmed in a mouse model study. We have received many questions from patients, their families, patient organisations, and healthcare practitioners about the optimal type of GCs, the dose, the route of administration, and application timing. This paper attempts to answer the most urgent of these questions based on our previous studies and personal observations. Despite the promising observations, more research on larger patient groups is needed to elucidate the beneficial actions of GCs in CSF1R mutation carriers.
Assuntos
Leucoencefalopatias , Animais , Humanos , Camundongos , Leucoencefalopatias/genética , MutaçãoRESUMO
INTRODUCTION: We present the first two Polish families diagnosed with spinocerebellar ataxia type 7 (SCA7) and draw attention to cardiac involvement as a new potential manifestation of this disease. MATERIAL AND METHODS: Two well-documented kindreds are presented. RESULTS: The proband from Family 1 presented aged 54 years with vision worsening followed by progressive imbalance. Brain MRI demonstrated cerebellar atrophy. Genetic testing confirmed CAG repeat expansion (42/10) in ATXN7 gene. The proband from Family 2 developed imbalance at age 20, followed by progressive deterioration of vision. Brain MRI revealed cerebellar atrophy. Additionally, she developed chronic congestive heart failure and, at age 38, had cardiomyopathy with an ejection fraction of 20% and significant mitral and tricuspid regurgitation. Genetic analysis found abnormal CAG expansion in the ATXN7 (46/10). CONCLUSIONS AND CLINICAL IMPLICATIONS: Vision loss due to pigmentary retinal degeneration is the distinguishing feature of SCA7 and often the initial manifestation. Although SCA7 is one of the most common SCAs in Sweden, it has never been reported in neighbouring Poland. Until now, cardiac abnormalities have only been described in infantile-onset SCA7 with large CAG repeats. The observed cardiac involvement in Family 2 may be coincidental, albeit a new possible manifestation of SCA7 cannot be excluded.
Assuntos
Ataxias Espinocerebelares , Feminino , Humanos , Adulto Jovem , Adulto , Polônia , Ataxina-7/genética , Ataxias Espinocerebelares/diagnóstico por imagem , Ataxias Espinocerebelares/genética , Testes Genéticos , AtrofiaRESUMO
INTRODUCTION: The study aimed at evaluating the effect of subthalamic deep brain stimulation (DBS-STN) on restless legs syndrome (RLS) in Parkinson's disease (PD) patients. MATERIALS AND METHODS: We assessed the presence of RLS before and 6 and 12 months after surgery in 36 patients. Differences between patients with RLS, without RLS, and with remission of RLS in terms of sleep measures (interview and validated questionnaires) and nonmotor symptoms (NMS). Polysomnography (PSG) was performed in 24 patients. Simple and multiple regression models were used to identify potential predictors of RLS outcome after DBS-STN. RESULTS: Before DBS-STN 14 of the 36 patients (39%) were diagnosed with RLS. DBS-STN resulted in the resolution of RLS in 43% (n = 6) and the emergence of RLS in 2 (9%) patients. During the study, 20 patients remained without RLS and the patients with unremitting RLS (n = 8) experienced alleviation of symptoms. At baseline patients with RLS had higher Non-Motor Symptoms Scale (NMSS) total and sleep domain, Unified Parkinson's Disease Rating Scale (UPDRS) part IV and lower Parkinson's Disease Sleep Scale (PDSS) scores. There were no differences between the groups without and with RLS in terms of PSG recordings. CONCLUSION: DBS-STN provided relief of symptoms in most of the patients with PD and RLS. We found that RLS was associated with worse subjective sleep quality, more severe NMS, and complications of levodopa therapy. DBS-STN may have direct impact on RLS rather than related indirectly through post-surgery change in medications.
Assuntos
Estimulação Encefálica Profunda , Doença de Parkinson , Síndrome das Pernas Inquietas , Núcleo Subtalâmico , Estimulação Encefálica Profunda/métodos , Humanos , Levodopa/uso terapêutico , Doença de Parkinson/tratamento farmacológico , Doença de Parkinson/terapia , Síndrome das Pernas Inquietas/complicações , Síndrome das Pernas Inquietas/terapia , Núcleo Subtalâmico/fisiologia , Resultado do TratamentoRESUMO
Parkinson's disease (PD) is generally considered a sporadic disorder, but a strong genetic background is often found. The aim of this study was to identify the underlying genetic cause of PD in two affected siblings and to subsequently assess the role of mutations in Cathepsin B (CTSB) in susceptibility to PD. A typical PD family was identified and whole-exome sequencing was performed in two affected siblings. Variants of interest were validated using Sanger sequencing. CTSB p.Gly284Val was genotyped in 2077 PD patients and 615 unrelated healthy controls from the Czech Republic, Ireland, Poland, Ukraine, and the USA. The gene burden analysis was conducted for the CTSB gene in an additional 769 PD probands from Mayo Clinic Florida familial PD cohort. CTSB expression and activity in patient-derived fibroblasts and controls were evaluated by qRT-PCR, western blot, immunocytochemistry, and enzymatic assay. The CTSB p.Gly284Val candidate variant was only identified in affected family members. Functional analysis of CTSB patient-derived fibroblasts under basal conditions did not reveal overt changes in endogenous expression, subcellular localization, or enzymatic activity in the heterozygous carrier of the CTSB variant. The identification of the CTSB p.Gly284Val may support the hypothesis that the CTSB locus harbors variants with differing penetrance that can determine the disease risk.
Assuntos
Catepsina B/metabolismo , Doença de Parkinson , Catepsina B/genética , Genótipo , Heterozigoto , Humanos , Doença de Parkinson/genética , PenetrânciaRESUMO
BACKGROUND: Establishing the diagnosis of Huntington's disease (HD) involves molecular genetic testing and estimation of the number of CAG repeats. MATERIAL AND METHODS: We report a 42-year-old patient with clinical phenotype suggestive of HD, who was repeatedly negative on genetic testing for HD at a reference laboratory. He had positive history of similar symptoms in his father, but not in other family members. During a 2-year follow-up his symptoms slowly deteriorated (videos attached). The family history was misleading, as we discovered that patient's father was adopted as infant. Having excluded HD-like disorders and other causes of the symptoms we hypothesized that the primer could not bind to the mutated allele. RESULTS: The PCR reaction with primers HD1 and Hu3 revealed homozygosity of the other adjacent microsatellite tract consisting of the CCG repeats. The newly designed set of primers, located outside of the CAG tract (HD6extF, HD7extR) was used and enabled amplification of the mutant allele and detection of the abnormal range of CAG repeats. CONCLUSIONS: As application of the novel primers led to the diagnosis of HD in other 5 patients previously tested negative, we propose their incorporation into routine genetic testing in patients suspected of HD displaying homoallelism in the standard protocol.
Assuntos
Doença de Huntington , Adulto , Alelos , Testes Genéticos , Humanos , Doença de Huntington/diagnóstico , Doença de Huntington/genética , Masculino , Reação em Cadeia da Polimerase , Repetições de TrinucleotídeosRESUMO
BACKGROUND AND PURPOSE: Perry disease (or Perry syndrome) is an autosomal dominant neurodegenerative disorder characterized by parkinsonism, neuropsychiatric symptoms, central hypoventilation, weight loss and distinct TDP-43 pathology. It is caused by mutations of the DCTN1 gene encoding an essential component of axonal transport. The objectives were to provide the current state of knowledge on clinical, pathological and genetic aspects of Perry disease, as well as practical suggestions for the management of the disease. METHODS: Data on new patients from New Zealand, Poland and Colombia were collected, including autopsy report. Also all of the published papers since the original work by Perry in 1975 were gathered and analyzed. RESULTS: Parkinsonism was symmetrical, progressed rapidly and was poorly responsive to L-Dopa; nonetheless, a trial with high doses of L-Dopa is warranted. Depression was severe, associated with suicidal ideations, and benefited from antidepressants and L-Dopa. Respiratory symptoms were the leading cause of death, and artificial ventilation or a diaphragm pacemaker prolonged survival. Weight loss occurred in most patients and was of multifactorial etiology. Autonomic dysfunction was frequent but underdiagnosed. There was a clinical overlap with other neurodegenerative disorders. An autopsy showed distinctive pallidonigral degeneration with TDP-43 pathology. Genetic testing provided evidence of a common founder for two families. There was striking phenotypic variability in DCTN1-related disorders. It is hypothesized that oligogenic or polygenic inheritance is at play. CONCLUSIONS: Perry disease and other DCTN1-related diseases are increasingly diagnosed worldwide. Relatively effective symptomatic treatments are available. Further studies are needed to pave the way toward curative/gene therapy.
Assuntos
Hipoventilação , Transtornos Parkinsonianos , Depressão/complicações , Complexo Dinactina/genética , Humanos , Hipoventilação/complicações , Hipoventilação/genética , Hipoventilação/terapia , Mutação , Transtornos Parkinsonianos/diagnósticoRESUMO
INTRODUCTION: Deep brain stimulation (DBS) therapy for Parkinson's Disease (PD) and dystonia is associated with the possibility of both minor and major complications. One possible side effect is the depletion of implantable pulse generator (IPG) battery and the associated sudden recurrence of PD or dystonia symptoms, which can be potentially life-threatening. Delayed or postponed outpatient visits due to COVID -19 may be a risk factor of battery end-of-life consequences. OBJECTIVE: To analyse the clinical outcomes in reported PD and dystonia patients treated with DBS, who, as a result of the sudden depletion of the neurostimulator battery, developed life-threatening symptoms. MATERIALS AND METHODS: The databases of PubMed, Scopus, EMBASE and Google Scholar were searched using pre-established criteria. RESULTS: A total of 244 articles was found, of which 12 met the adopted criteria. Selected papers presented a total of 17 case reports of DBS-treated patients - 11 with PD, and six with dystonia - who had depleted IPG batteries and due to rapid worsening of PD/dystonia symptoms required urgent hospital admission. IPG battery replacement was the only effective treatment in the majority of cases. CONCLUSIONS: IPG battery depletion can result in fatal outcomes. Sudden recurrence of PD or dystonia symptoms in patients treated by DBS can be potentially life-threatening, so scheduling the replacement of a discharged IPG battery should not be postponed. The COVID-19 pandemic should alert staff at emergency, neurology and movement disorders wards not to postpone the visits of patients with an implanted DBS system.
Assuntos
COVID-19 , Estimulação Encefálica Profunda , Distonia , Doença de Parkinson , Distonia/terapia , Eletrodos Implantados , Humanos , Pandemias , Doença de Parkinson/terapia , SARS-CoV-2RESUMO
Dementia in advanced Parkinson's Disease (PD) is a fatal milestone resulting in reduced life expectancy and nursing home placement. Cognitive impairment and cardiovascular dysautonomia are common and debilitating non-motor symptoms that frequently coexist in PD since the early stages and progress in subsequent years. In particular, blood pressure (BP) abnormalities, including orthostatic hypotension (OH), supine hypertension (SH) and the loss of nocturnal BP fall (non-dipping) in PD have been associated with cognitive deterioration. They usually have multifactorial aetiology, including neuronal (central and peripheral) mechanisms and concomitant intake of medications. BP abnormalities can influence cognition in many ways, including repeated cerebral hypoperfusion leading to cerebral ischaemic lesions, higher burden of white matter hyperintensities, and possible impact on neurodegenerative process in PD. They are often asymptomatic and remain unrecognised, hence 24-hour ambulatory BP monitoring is recommended in patients with clinical symptoms of dysautonomia. Management is challenging and should address the multifactorial nature of BP disturbances. The aim of this review was to present the state of current knowledge regarding the possible relationship between cardiovascular dysautonomia and cognition in PD, its diagnosis and treatment.
Assuntos
Hipotensão Ortostática , Doença de Parkinson , Disautonomias Primárias , Pressão Sanguínea , Monitorização Ambulatorial da Pressão Arterial , Cognição , Humanos , Doença de Parkinson/complicações , Disautonomias Primárias/etiologiaRESUMO
BACKGROUND: In 2008, the Movement Disorders Society published the Unified Dyskinesia Rating Scale (UDysRS). This has become the established tool for assessing the severity and disability associated with dyskinesia in patients with Parkinson's Disease (PD). We translated and validated the Polish version of the UDysRS, explored its dimensionality, and compared it to the Spanish version, which is the Reference Standard for UDysRS translations. MATERIAL AND METHODS: The UDysRS was translated into Polish by a team led by JS and GO. The back-translation, completed by colleagues fluent in both Polish and English who were not involved in the original translation, was reviewed and approved by the Executive Committee of the MDS Rating Scales Programme. Then the translated version of the UDysRS underwent cognitive pretesting, and the translation was modified based on the results. The approved version was considered to be the Official Working Document of the Polish UDysRS and was tested on 250 Polish PD patients recruited at movement disorder centres. Data was compared to the Reference Standard used for validating UDysRS translations. RESULTS: The overall factor structure of the Polish version was consistent with that of the Reference Standard version, as evidenced by the high Confirmatory Fit Index score (CFI = 0.98). The Polish UDysRS was thus confirmed to share a common factor structure with the Reference Standard. CONCLUSIONS: The Official Polish UDysRS translation is recommended for use in clinical and research settings. Worldwide use of uniform rating measures offers a common ground to study similarities and differences in disease manifestations and progression across cultures.
Assuntos
Discinesias , Doença de Parkinson , Discinesias/diagnóstico , Humanos , Doença de Parkinson/diagnóstico , Polônia , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , TraduçõesRESUMO
BACKGROUND: As deep brain stimulation (DBS) and radiation therapy (RT) have become established treatments for movement disorders and malignancies respectively, patients being treated with both simultaneously are becoming more frequent. OBJECTIVES: Literature regarding the safety of RT in patients with implanted DBS is scarce, and there are no clear guidelines on how to manage them. METHODS: We present a follow-up of two Parkinson's Disease (PD) patients with DBS undergoing RT in the context of previous literature. RESULTS: No adverse events nor malfunctioning of the DBS system were observed. This was in line with previous reports. CONCLUSIONS: Since there are no clear safety guidelines for RT in DBS patients, it is important to document experience in this field. A combined approach involving multidisciplinary discussions between neurosurgeons, radiotherapists, clinical oncologists and neurologists is recommended.
Assuntos
Estimulação Encefálica Profunda , Eletrodos Implantados , Humanos , Doença de ParkinsonRESUMO
BACKGROUND: In 2008, the Movement Disorders Society (MDS) published a new Unified Parkinson's Disease Rating Scale (MDS-UPDRS) as the official benchmark scale for Parkinson's Disease (PD). We have translated and validated the Polish version of the MDS-UPDRS, explored its dimensionality, and compared it to the original English one. METHODS: The MDS-UPDRS was translated into Polish by a team of Polish investigators led by JS and GO. The back-translation was completed by colleagues fluent in both languages (Polish and English) who were not involved in the original translation, and was reviewed by members of the MDS Rating Scales Programme. Then the translated version of the MDS-UPDRS underwent cognitive pretesting, and the translation was modified based on the results. The final translation was approved as the Official Working Document of the MDS-UPDRS Polish version, and was tested on 355 Polish PD patients recruited at movement disorders centres all over Poland (at Katowice, Gdansk, Lódz, Warsaw, Wroclaw, and Kraków). Confirmatory and explanatory factor analyses were applied to determine whether the factor structure of the English version could be confirmed in the Polish version. RESULTS: The Polish version of the MDS-UPDRS showed satisfactory clinimetric properties. The internal consistency of the Polish version was satisfactory. In the confirmatory factor analysis, all four parts had greater than 0.90 comparative fit index (CFI) compared to the original English MDS-UPDRS. Explanatory factor analysis suggested that the Polish version differed from the English version only within an acceptable range. CONCLUSIONS AND CLINICAL IMPLICATIONS: The Polish version of the MDS-UPDRS meets the requirements to be designated as the Official Polish Version of the MDS-UPDRS, and is available on the MDS web page. We strongly recommend using the MDS-UPDRS instead of the UPDRS for research purposes and in everyday clinical practice.