High prevalence of self-reported non-motor symptoms and lack of correlation with motor severity in adult patients with idiopathic isolated dystonia.

BACKGROUND: Although abnormal movements and postures are the hallmark of dystonia, non-motor symptoms (NMS) are common and negatively affect quality of life. OBJECTIVES: The aim of this study was to screen dystonia patients for NMS and analyze their association with clinical parameters, including motor disability. METHODS: Adult patients with idiopathic isolated dystonia were interviewed and examined. Dystonia severity was evaluated with the Fahn-Marsden Dystonia Rating Scale and the presence of NMS was assessed using a list of 29 complaints. RESULTS: A hundred and two patients (63.7% female) were enrolled. Dystonia began after 20 years of age in 61.8% and was focal or segmental in 82.8% of patients. Only eight patients (7.8%) had no NMS and 59.8% reported more than five. The most prevalent NMS were pain (72.5%) and anxiety (63.7%), followed by difficulty recalling information (44.1%), sadness/anhedonia (41.2%), and difficulty falling asleep (38.2%). No correlation was found between the total number of NMS and dystonia severity (p = 0.18) or regular botulinum toxin use (p = 0.66). The majority of NMS domains correlated with each other. CONCLUSIONS: Our results confirm a high prevalence of NMS among dystonia patients, even in those with mild motor disability. The pathophysiology of NMS in dystonia remains to be completely understood.

Spectral characteristics of subthalamic nucleus local field potentials in Parkinson's disease: Phenotype and movement matter.

Parkinson's disease (PD) is clinically heterogeneous across patients and may be classified in three motor phenotypes: tremor dominant (TD), postural instability and gait disorder (PIGD), and undetermined. Despite the significant clinical characterization of motor phenotypes, little is known about how electrophysiological data, particularly subthalamic nucleus local field potentials (STN-LFP), differ between TD and PIGD patients. This is relevant since increased STN-LFP bandpower at α-ß range (8-35 Hz) is considered a potential PD biomarker and, therefore, a critical setpoint to drive adaptive deep brain stimulation. Acknowledging STN-LFP differences between phenotypes, mainly in rest and movement states, would better fit DBS to clinical and motor demands. We studied this issue through spectral analyses on 35 STN-LFP in TD and PIGD patients during rest and movement. We demonstrated that higher ß2 activity (22-35 Hz) was observed in PIGD only during rest. Additionally, bandpower differences between rest and movement occurred at the α-ß range, but with different patterns as per phenotypes: movement-induced desynchronization concerned lower frequencies in TD (10-20 Hz) and higher frequencies in PIGD patients (21-28 Hz). Finally, when supervised learning algorithms were employed aiming to discriminate PD phenotypes based on STN-LFP bandpower features, movement information had improved the classification accuracy, achieving peak performances when TD and PIGD movement-induced desynchronization ranges were considered. These results suggest that STN-LFP ß-band encodes phenotype-movement dependent information in PD patients.

Subthalamic Nucleus Deep Brain Stimulation Lessens Acquired Dystonia: Report of Two Patients and Systematic Review of Published Cases.

INTRODUCTION: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) is an efficient treatment of primary dystonia. Few studies have reported the effect of STN-DBS on secondary or acquired dystonia. METHODS: We reported 2 patients with acquired dystonia treated by subthalamic DBS and followed up for 24 months, besides providing a systematic review and meta-analysis of published series. RESULTS/CONCLUSIONS: Both patients had thalamic vascular or autoimmune lesions within the ventral and the pulvinar nuclei. A reduction of 67.2% on the Burke-Fahn-Marsden Dystonia Rating Scale and 90% improvement in disability scores were shown in the first patient, while the second patient showed a lower reduction in both dystonia symptoms (28.6%) and disability scores (44%). Both patients had a significant mean improvement in the quality of life (62.5% in the first and 57.9% in the second) and were free of drugs postoperatively. A systematic review showed a mean follow-up of 13 months in 19 patients, including our 2 patients. The review showed a significant Burke-Fahn-Marsden Dystonia Scale (BFMDRS) score median reduction of 19 points (52.4%; confidence interval [CI]: 11.0-25.0) and a significant median reduction of 6 points in disability scores (44.5%; 95% CI: 4.0-14.0), thereby improving quality of life. Age at surgery was inversely correlated with postoperative improvement (r = 0.63; p = 0.039). Hemidystonia had a nonsignificant better improvement than generalized dystonia (55.3 vs. 43.5%; p = 0.4433). No association between etiology and postoperative improvement and no serious complications were found. Although few data reported so far, subthalamic DBS is likely efficient for acquired dystonia.

Validation of the National Institute of Neurological Disorders and Stroke Criteria for Psychosis in Parkinson Disease.

OBJECTIVES: Parkinson disease (PD) psychosis is a condition associated with several negative outcomes. Despite its impact, there is a lack of validated diagnostic tools for this condition. In this study, we aim to verify the validity of the proposed NINDS criteria for PD psychosis and explore its possible applications in clinical practice. DESIGN, SETTINGS, PARTICIPANTS: We prospectively selected 104 subjects with idiopathic PD referred to a movement disorder clinic for a cross-sectional evaluation. MEASUREMENTS: A neurological evaluation confirmed idiopathic PD and classified PD psychosis according to the NINDS criteria. A psychiatrist then classified the subject according to DSM-IV-TR criteria for psychosis, considered the reference standard. We used Cohen's kappa (κ) to quantify reliability between methods. Finally, we designed models assigning a weighted score to each characteristic psychotic symptom from the NINDS criteria (criterion A), and plotted receiver operating curves for each model. RESULTS: Of the total sample, 52 (50%) met proposed criteria for NINDS PD psychosis and 16 (15.6%) met reference standard criteria. Inter-rater reliability showed only a fair agreement (κ = 0.30). By using a scoring approach for each NINDS criteria item and a cutoff total score for the diagnosis of PD psychosis, we significantly increased the agreement for diagnosis reliability (κ = 0.72), with sensitivity of 94% and specificity of 91%. CONCLUSIONS: Although the NINDS criteria had limited reliability for diagnosing PD psychosis, a scoring approach for symptoms showed good reliability, with sensitivity and specificity above 90%. This scoring approach may be an accurate tool for identifying patients with PD psychosis.

Clinical Implications of the National Institute of Neurological Disorders and Stroke Criteria for Diagnosing Psychosis in Parkinson's Disease.

The effect of psychotic symptoms in Parkinson's disease (PD) is variable among patients, and different methods to assess psychosis may yield conflicting results. A sample of 102 patients with a diagnosis of idiopathic PD underwent neurological, psychiatric, and neuropsychological assessment. Participants were divided into three groups: those who met DSM criteria for psychotic disorder, those who had psychotic symptoms but did not meet DSM criteria, and those without any psychotic symptoms. The first group had significantly worse sleep and worse cognitive and psychopathological symptoms compared with the other two groups. Results suggested that patients meeting DSM criteria for psychotic disorder comprise a separate clinical category.

Folate use in women with epilepsy: predictors of adherence in a specialized tertiary outclinic.

PURPOSE OF THE STUDY: The aims of this study were to determine the percentage of women with epilepsy (WWE) taking folic acid (FA) in an outpatient epilepsy tertiary hospital at São Paulo, Brazil, and to identify the possible predictors of adherence. METHOD: Five hundred seventy-six medical records of patients followed in our service were reviewed. Sixty-six WWE using antiepileptic drugs with age between 16 and 52, sexually active but not in menopausal period, not pregnant, and not sterilized or with vasectomized partners underwent direct interviews with a prestructured questionnaire. Logistic regression with clinical and demographic variables using a stepwise method was performed to identify predictable variables of folate use. RESULTS: We found 42.40% of FA intake. Hormonal contraceptive method use was an independent variable negatively associated with adherence to folate. Additionally, educational level was an independent variable positively associated with adherence to folate in WWE above 35years of age. CONCLUSION: We found low folate adherence. Improved planning pre-conception for WWE should improve rates of effective folate supplementation.

Subthalamic low beta bursts differ in Parkinson's disease phenotypes.

OBJECTIVE: Parkinson's disease (PD) patients may be categorized into tremor-dominant (TD) and postural-instability and gait disorder (PIGD) motor phenotypes, but the dynamical aspects of subthalamic nucleus local field potentials (STN-LFP) and the neural correlates of this phenotypical classification remain unclear. METHODS: 35 STN-LFP (20 PIGD and 15 TD) were investigated through continuous wavelet transform and machine-learning-based methods. The beta oscillation - the main band associated with motor impairment in PD - dynamics was characterized through beta burst parameters across phenotypes and burst intervals under specific proposed criteria for optimal burst threshold definition. RESULTS: Low-frequency (13-22 Hz) beta burst probability was the best predictor for PD phenotypes (75% accuracy). PIGD patients presented higher average burst duration (p = 0.018), while TD patients exhibited higher burst probability (p = 0.014). Categorization into shorter and longer than 400 ms bursts led to significant interaction between burst length categories and the phenotypes (p < 0.050) as revealed by mixed-effects models. Long burst durations and short bursts probability positively correlated, respectively, with rigidity-bradykinesia (p = 0.029) and tremor (p = 0.038) scores. CONCLUSIONS: Subthalamic low-frequency beta bursts differed between TD and PIGD phenotypes and correlated with motor symptoms. SIGNIFICANCE: These findings improve the PD phenotypes' electrophysiological characterization and may define new criteria for adaptive deep brain stimulation.

Unusual Presentation in Infratentorial Superficial Siderosis: Acute Intracranial Hypertension.

Superficial siderosis (SS) of the nervous system is a rare acquired condition related to hemosiderin deposits in subpial layers of the brain, brainstem, cerebellum, cranial nerves, and spinal cord, leading to brain iron-mediated neurodegeneration. The cardinal neurological features are slowly progressive hearing loss, ataxia, and pyramidal signs. Here we describe an atypical case of infratentorial SS evolving with acute intracranial hypertension in the absence of typical chronic signs.

Electroencephalographic findings among inpatients with COVID-19 in a tertiary hospital from a middle-income country.

BACKGROUND: In 2019, the world witnessed the emergence of a new type of coronavirus - the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The spectrum of coronavirus disease 2019 (COVID-19) is variable, and amongst its manifestations are neurological implications. OBJECTIVE: This report aimed to describe electroencephalographic findings in COVID-19 patients from a general tertiary hospital in São Paulo, Brazil. METHODS: It was a retrospective, observational, and non-interventional study. Data were collected anonymously, comprising inpatients from Mar 1 to Jun 30, 2020, either confirmed (positive RT-PCR) or probable cases (CO-RADS 4/5) who had performed EEG during hospitalization. RESULTS: Twenty-eight patients were enrolled, 17 (60.7%) women and 11 men, with a median age of 58 (minimum and maximum: 18-86; IQR 23.5). COVID-19 diagnosis was confirmed in 22 (78.5%). Twenty-one patients (75%) had severe disease, requiring mechanical ventilation due to acute respiratory distress syndrome (ARDS); 16 (57.1%) patients developed adjunct sepsis throughout hospitalization. There was no specific pattern found for COVID-19 in EEG. No patients presented with status epilepticus or electrographic events; most patients developed an encephalopathic pattern, as seen in most studies, with a high prevalence of altered mental status as an indication for EEG. Adjunct sepsis was associated with higher mortality. CONCLUSIONS: EEG presents as a useful tool in the context of COVID-19, as in other conditions, to differentiate nonconvulsive status epilepticus (NCSE) from encephalopathy and other causes of mental status alterations. Further studies are required to analyze whether there might be a specific EEG pattern to the disease.

Fields of Forel Brain Stimulation Improves Levodopa-Unresponsive Gait and Balance Disorders in Parkinson's Disease.

BACKGROUND: Gait and balance disturbance are challenging symptoms in advanced Parkinson's disease (PD). Anatomic and clinical data suggest that the fields of Forel may be a potential surgical target to treat these symptoms. OBJECTIVE: To test whether bilateral stimulation centered at the fields of Forel improves levodopa unresponsive freezing of gait (FOG), balance problems, postural instability, and falls in PD. METHODS: A total of 13 patients with levodopa-unresponsive gait disturbance (Hoehn and Yahr stage ≥3) were included. Patients were evaluated before (on-medication condition) and 1 yr after surgery (on-medication-on-stimulation condition). Motor symptoms and quality of life were assessed with the Unified Parkinson's Disease Rating scale (UPDRS III) and Quality of Life scale (PDQ-39). Clinical and instrumented analyses assessed gait, balance, postural instability, and falls. RESULTS: Surgery improved balance by 43% (95% confidence interval [CI]: 21.2-36.4 to 35.2-47.1; P = .0012), reduced FOG by 35% (95% CI: 15.1-20.3 to 8.1-15.3; P = .0021), and the monthly number of falls by 82.2% (95% CI: 2.2-6.9 to -0.2-1.7; P = .0039). Anticipatory postural adjustments, velocity to turn, and postural sway measurements also improved 1 yr after deep brain stimulation (DBS). UPDRS III motor scores were reduced by 27.2% postoperatively (95% CI: 42.6-54.3 to 30.2-40.5; P < .0001). Quality of life improved 27.5% (95% CI: 34.6-48.8 to 22.4-37.9; P = .0100). CONCLUSION: Our results suggest that DBS of the fields of Forel improved motor symptoms in PD, as well as the FOG, falls, balance, postural instability, and quality of life.

Use of non-invasive stimulation in movement disorders: a critical review.

BACKGROUND: Noninvasive stimulation has been widely used in the past 30 years to study and treat a large number of neurological diseases, including movement disorders. OBJECTIVE: In this critical review, we illustrate the rationale for use of these techniques in movement disorders and summarize the best medical evidence based on the main clinical trials performed to date. METHODS: A nationally representative group of experts performed a comprehensive review of the literature in order to analyze the key clinical decision-making factors driving transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS) in movement disorders. Classes of evidence and recommendations were described for each disease. RESULTS: Despite unavoidable heterogeneities and low effect size, TMS is likely to be effective for treating motor symptoms and depression in Parkinson's disease (PD). The efficacy in other movement disorders is unclear. TMS is possibly effective for focal hand dystonia, essential tremor and cerebellar ataxia. Additionally, it is likely to be ineffective in reducing tics in Tourette syndrome. Lastly, tDCS is likely to be effective in improving gait in PD. CONCLUSIONS: There is encouraging evidence for the use of noninvasive stimulation on a subset of symptoms in selected movement disorders, although the means to optimize protocols for improving positive outcomes in routine clinical practice remain undetermined. Similarly, the best stimulation paradigms and responder profile need to be investigated in large clinical trials with established therapeutic and assessment paradigms that could also allow genuine long-term benefits to be determined.

Rasmussen encephalitis: an older adult presentation?

Rasmussen encephalitis (RE) is a classic disorder in the child age group, and only 10% of cases are described in adults. We bring two proven cases of RE in older adults aged over 55 years. OBJECTIVE: To describe the clinical characteristics, progression, diagnostic assessment, neuropathological findings, and treatment of RE in two clinical cases of patients over 55 years of age. Furthermore, we address progressive cognitive decline as an important feature of the RE presentation in older adults in association with focal epilepsy. METHODS: This is a case series from two tertiary hospitals from São Paulo - Brazil. Retrospective data were collected from one case. Results: Two male individuals aged >55 years with clinical presentation of focal epilepsy along with progressive cognitive deterioration. CONCLUSIONS: RE could be considered the cause of progressive cognitive decline in older adults, especially if focal epilepsy is described together with asymmetrical neuroimaging findings.

A encefalite de Rasmussen (ER) é um distúrbio clássico da faixa etária infantil e apenas 10% dos casos são descritos em adultos. Trazemos dois casos comprovados de ER em idosos, com idade acima de 55 anos de idade. OBJETIVO: Descrever as características clínicas, evolução, avaliação diagnóstica, achados neuropatológicos e tratamento da ER em dois casos clínicos com mais de 55 anos de idade. Além disso, atentar para o declínio cognitivo progressivo como uma característica importante na apresentação ER idosos em associação à epilepsia focal. MÉTODOS: Série de casos de dois Hospitais Terciários em São Paulo, Brasil. Dados retrospectivos foram coletados de um caso. RESULTADOS: Dois indivíduos do sexo masculino com idade >55 anos e apresentação clínica de epilepsia focal associada a deterioração cognitiva progressiva. CONCLUSÃO: A ER pode ser considerada a causa do declínio cognitivo progressivo em idosos, especialmente se for descrita epilepsia focal associada a achados assimétricos em neuroimagem.

Myasthenia Gravis Related to Thymic Carcinoma: A Case Study.

Myasthenia gravis and thymoma are often presented in association with ∼10% of myasthenic cases having concomitant thymoma. Thymic carcinoma is one of the rarest/aggressive human epithelial tumors and has no correlation with myasthenia gravis hitherto. Here is provided a clinical case and review of literature on a very rare association of thymic carcinoma (with no sign of thymoma) and myasthenia gravis (antiacetylcholine receptor antibody positive). Two years after thymectomy, clinical evolution was satisfactory. This clinical case elicits hypothesis that thymic carcinoma may be related with myasthenia gravis, what may have good prognostic from oncologic and neurologic perspectives.

Acute Disseminated Encephalomyelitis in COVID-19: presentation of two cases and review of the literature.

BACKGROUND: Neurological manifestations of COVID-19 are still incompletely understood. Neurological manifestations may be due to direct viral effect on neurons and glial cells, to an immune-mediated response to the virus, or to a hypercoagulable state and associated endothelial damage, as well as to severe systemic disease with prolonged intensive care unit stay. OBJECTIVE: To describe two patients with severe SARS-CoV-2 infection and delayed recovery of consciousness after sedation withdrawal, in whom MRI disclosed multifocal white matter brain lesions, compatible with the diagnosis of acute disseminated encephalomyelitis. METHODS: Observational report of two cases of severe COVID-19 infection in patients from two tertiary hospitals in São Paulo, Brazil. RESULTS: These patients underwent neurologic and systemic evaluation for delayed awakening after sedation withdrawal. MRI displayed multifocal centrum semiovale lesions, suggestive of demyelinating inflammation. Cerebrospinal fluid (CSF) polymerase chain reaction (PCR) for SARS-CoV-2 was negative in both cases. CONCLUSION: A recurrent pattern of multifocal white matter lesions can occur in COVID-19 patients, possibly associated with delayed awakening. Additional studies are necessary to elucidate the role of the viral infection and of inflammatory and immune-mediated associated changes in neurological manifestations of COVID-19.

Acute treatment costs of stroke in Brazil.

BACKGROUND AND PURPOSE: Although stroke is the leading cause of death in Brazil, little information exist on the acute treatment provided for stroke and its associated costs. This study addresses this gap by both clinically and economically characterizing the acute treatment of first-ever intracerebral hemorrhage (ICH) and ischemic stroke (IS) in Brazil. METHODS: Retrospective medical chart review using data from two high-volume stroke centers in São Paulo, Brazil. Clinical and resource utilization data for all patients admitted to the stroke centers with a first-ever stroke between January 1, 2006 and May 31, 2007 were collected and the mean acute treatment costs per person were calculated by assigning appropriate unit cost data to all resource use. Cost estimates in Brazilian reals (BRL) were converted to US dollars (USD) using the 2005 purchasing power parity index. National costs of acute treatment for incident strokes were estimated by extrapolation of mean cost estimate per person to national incidence data for the two types of stroke. The mean costs of acute treatment on a national scale were examined in sensitivity analysis. RESULTS: A total of 316 stroke patients were identified and their demographic and clinical characteristics, patterns of care, and outcomes were examined. Mean length of hospital stay was 12.0 +/- 8.8 days for ICH and 13.3 +/-23.4 days for IS. Ninety-one percent of the ICH patients and 68% of the IS patients were admitted to an intensive care unit (ICU). Mean total costs of initial hospitalization were USD 4,101 (SD +/-4,254) for ICH and USD 1,902 (SD +/-1,426) for IS. In multivariate analysis, hemorrhagic stroke, development of pneumonia, neurosurgical intervention, stay in ICU, and physical therapy were all significant independent predictors of acute treatment costs. Aggregate national health care expenditures for acute treatment of incident ICH were USD 122.4 million (range 30.8-274.2) and USD 326.9 million for IS (range 82.4-732.2). CONCLUSION: Acute treatment costs of incident ICH and IS in Brazil are substantial and primarily driven by the intensity of hospital treatment and in-hospital complications. With the expected increase in the incidence of stroke in Brazil over the coming decades, these results emphasize the need for effective preventive and acute medical care.

Stereotactic Lesion in the Forel's Field H: A 2-Years Prospective Open-Label Study on Motor and Nonmotor Symptoms, Neuropsychological Functions, and Quality of Life in Parkinson Disease.

BACKGROUND: Stereotactic lesion in the Forel's field H (campotomy) was proposed in 1963 to treat Parkinson disease (PD) symptoms. Despite its rationale, very few data on this approach have emerged. Additionally, no study has assessed its effects on nonmotor symptoms, neuropsychological functions and quality of life. OBJECTIVE: To provide a prospective 2-yr assessment of motor, nonmotor, neuropsychological and quality of life variables after unilateral campotomy. METHODS: Twelve PD patients were prospectively evaluated using the Unified Parkinson's Disease Rating Scale (UPDRS), the Dyskinesia Rating Scale and the Parkinson's disease quality of life questionnaire (PDQ39) before campotomy, and after 6 and 24 mo. Nonmotor, neuropsychiatric, neuropsychological and quality of life variables were assessed. The impact of PD on global health was also rated. RESULTS: A significant reduction in contralateral rest tremor (65.7%, P < .001), rigidity (87.8%, P < .001), bradykinesia (68%, P < .001) and axial symptoms (24.2%, P < .05) in offmedication condition led to a 43.9% reduction in UPSDRS III scores 2 yr after campotomy (P < .001). Gait improved by 31.9% (P < .05) and walking time to cover 7 m was reduced by 43.2% (P < .05). Pain decreased by 33.4% (P < .01), while neuropsychiatric and neuropsychological functions did not change. Quality of life improved by 37.8% (P < .05), in line with a 46.7% reduction of disease impact on global health (P < .001). CONCLUSION: A significant 2-yr improvement of motor symptoms, gait performance and pain was obtained after unilateral campotomy without significant changes to cognition. Quality of life markedly improved in parallel with a significant reduction of PD burden on global health.

Clinical features associated with early hospital arrival after acute intracerebral hemorrhage: challenges for new trials.

BACKGROUND: Early hospital admission followed by correct diagnosis with minimum delay is a prerequisite for successful new interventions in acute intracerebral hemorrhage (ICH). The aim of this study was to evaluate clinical features associated with early hospital arrival in ICH patients and their influence on the outcome. METHODS: Data from all patients arriving within 24 h of the ICH onset were prospectively collected at 2 stroke centers in São Paulo, Brazil. The cutoff of 3 h was chosen to select 2 groups: 0-3 h (early) and >3-24 h (late). RESULTS: We identified 91 ICH patients (mean age 57.9 years, 62% men, 63% white) admitted within the first 24 h of symptom onset between March 2004 and April 2005. Systolic blood pressure, mean arterial pressure and pulse pressure were significantly higher in patients arriving within 3 h. Patients that arrived early also had a higher NIHSS score (p = 0.003), a lower Glasgow Coma Score (p = 0.001) and presence of intraventricular hemorrhage (p = 0.02). Lower ICH scores were more frequent in those that arrived late. Fourteen patients showed hematoma enlargement and the majority of them (n = 13) were admitted within the first 3 h from symptom onset (p = 0.01). Patients who arrived within the 3-hour window had a higher 30-day mortality (p = 0.0008) and a worse Rankin score after 6 months (p = 0.001). CONCLUSIONS: Treatment decisions in acute ICH may need to establish new combined approaches to maximize the number of eligible patients for early therapy considering the interactions between independent outcome predictors presented at early onset.

The prevalence of PRKRA mutations in idiopathic dystonia.

INTRODUCTION: DYT-PRKRA (DYT16) is considered a rare cause of dystonia-parkinsonism. The significance of this gene as a cause of dystonia and its phenotypical characterization must be determined in larger cohorts. We aimed to investigate the role of PRKRA in patients with dystonia. METHODS: We sequenced PRKRA in 153 unrelated Brazilian patients with idiopathic dystonia. The frequency of novel missense variants was investigated in healthy Brazilian controls and in public databases. Homozygosity in the PRKRA region was assessed through polymorphic markers. RESULTS: PRKRA variants were identified in seven probands with isolated dystonia, including a novel c.C795A variant in compound heterozygosity with the previously described c.C665T variant. Heterozygosity in the gene region was observed in two probands who were homozygous for c.C665T, indicating that this mutation originated from independent events, suggesting a hotspot. CONCLUSION: PRKRA is not an unusual cause of idiopathic dystonia. In this cohort, it was responsible for 4.5% of the total of cases (4.9% of the isolated dystonia cases). The most common phenotype was early-onset isolated focal dystonia followed by generalization, parkinsonism was not observed. This is first report of PRKRA causing adulthood-onset dystonia. Screenings of large cohorts are recommended to investigate the role of this gene in isolated dystonia, as well as in dystonia-parkinsonism cases worldwide.