420 results on '"José Luiz, Pedroso"'
Search Results
2. The clinical diagnosis of Parkinson's disease
- Author
-
Renato P. Munhoz, Vitor Tumas, José Luiz Pedroso, and Laura Silveira-Moriyama
- Subjects
Parkinson Disease ,Supranuclear Palsy, Progressive ,Multiple System Atrophy ,Atherosclerotic Parkinsonism ,Secondary Parkinsonism ,Doença de Parkinson ,Paralisia Supranuclear Progressiva ,Atrofia de Múltiplos Sistemas ,Parkinsonismo Secundário ,Parkinsonismo Aterosclerótico ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
After more than 200 years since its initial description, the clinical diagnosis of Parkinson's disease (PD) remains an often-challenging endeavor, with broad implications that are fundamental for clinical management. Despite major developments in understanding it's pathogenesis, pathological landmarks, non-motor features and potential paraclinical clues, the most accepted diagnostic criteria remain solidly based on a combination of clinical signs. Here, we review this process, discussing its history, clinical criteria, differential diagnoses, ancillary diagnostic testing, and the role of non-motor and pre-motor signs and symptoms.
- Published
- 2024
- Full Text
- View/download PDF
3. Complex movement disorders in early onset hypoparathyroidism
- Author
-
Filipe Sarmento, João Vitor Gerdulli Tamanini, Sofia Mônaco Gama, Leonardo Furtado Freitas, Orlando Graziani Povoas Barsottini, and José Luiz Pedroso
- Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Published
- 2024
- Full Text
- View/download PDF
4. Multiple cerebral cavernomas in linear scleroderma: an unusual association
- Author
-
Gabriela Rodrigues Tomaz, Maria Eduarda Slhessarenko Fraife Barreto, Rafael Tuzino Leite Neves Maffei, Renato Barradas Rodrigues, Sebastião Boanerges de Araujo Neto, Marianna Pinheiro Moraes de Moraes, José Luiz Pedroso, and Orlando Graziani Povoas Barsottini
- Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Published
- 2024
- Full Text
- View/download PDF
5. History and national survey on reflex hammers: which is the chosen one of Brazilian neurologists?
- Author
-
Caio César Diniz Disserol, Alex Tiburtino Meira, Carla Caroline Schramm, Gustavo Koiti Kondo, Gustavo Leite Franklin, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, and Hélio Afonso Ghizoni Teive
- Subjects
neurological examination ,percussion ,neurology ,history ,reflex, stretch ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
Background Percussion is an important part of the neurological examination and reflex hammers are necessary to obtain it properly. Objective We aimed to review the historical aspects of the main reflex hammers and to define the favorite one of Brazilian neurologists. Methods We searched original and review articles about historical aspects of the reflex hammers in Scielo and Pubmed and conducted an online survey to investigate the favorite reflex hammer of Brazilian neurologists. Results In the first part, we describe the major milestones in the creation of the reflex hammers. Following, we exhibit the results of the online survey: Babinski-Rabiner was the most voted. Conclusions The origins of the reflex hammers goes back long before their creation, from a basic clinical examination method: percussion. Since the description of deep tendon reflexes and the creation of percussion hammers, much has been improved in this technique. Among all the hammers surveyed, the Babinski-Rabiner was the chosen one by a significant portion of Brazilian neurologists.
- Published
- 2023
- Full Text
- View/download PDF
6. Diffuse leptomeningeal enhancement in neurosarcoidosis-related longitudinally extensive myelitis
- Author
-
Fabiano Ferreira de Abrantes, Marianna Pinheiro Moraes de Moraes, José Luiz Pedroso, and Orlando G. Barsottini
- Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Published
- 2023
- Full Text
- View/download PDF
7. Effect of speech therapy on quality of life in patients with spinocerebelar ataxia type 3
- Author
-
Giovana Diaféria, Silvana Bommarito, Pedro Braga Neto, Sung Woo Park, Marina Padovani, Fernanda Haddad, Leonardo Haddad, Mariana Callil Voos, Hsin Fen Chien, José Luiz Pedroso, and Orlando Barsottini
- Subjects
machado-joseph disease ,speech therapy ,deglutition disorders ,dysarthria ,quality of life ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
Background Individuals with spinocerebellar ataxia type 3 (SCA3) present communication and swallowing disorders, and consequent deterioration in quality of life (QOL). Objective To evaluate the impact of a speech therapy rehabilitation program on the QOL of patients with SCA3. Methods All participants were randomly assigned to two groups, an intervention group receiving speech therapy (STG) and a control group (CG). The International Cooperative Ataxia Rating Scale scores were 32.4 ± 20.2, and the Scale for the Assessment and Rating of Ataxia scores were 11.8 ± 8.0. The intervention consisted of a 12-session speech therapy rehabilitation program with oral, pharyngeal, and laryngeal strengthening exercises—the so-called ATAXIA–Myofunctional Orofacial and Vocal Therapy (A-MOVT). They all were submitted to pre- and postintervention evaluations using the World Health Organization's Quality of Life (WHOQOL-BREF) assessment, as well as the Living with Dysarthria (LwD), Quality of Life in Swallowing Disorders (SWAL-QOL), and Food Assessment Tool (EAT-10). Results The study sample consisted of 48 patients with SCA3 (STG = 25; CG = 23), mean age was 47.1 ± 11.4 years; mean age at symptom onset was 36.9 ± 11.3 years; disease duration was 11.9 ± 13.3 years. After the 3-month intervention, there were significant changes in the QOL in the STG compared with the CG, when assessed by the LwD (179.12 ± 62.55 vs. 129.88 ± 51.42, p
- Published
- 2022
- Full Text
- View/download PDF
8. Diagnostic reasoning in neurogenetics: a general approach
- Author
-
Helena Fussiger, José Luiz Pedroso, and Jonas Alex Morales Saute
- Subjects
Neurology ,Genetics, Medical ,Diagnosis ,Neurologia ,Genética Médica ,Diagnóstico ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
Establishing the definitive diagnosis of a neurogenetic disease is usually a complex task. However, like any type of clinical diagnostic reasoning, an organized process of development and consideration of diagnostic hypotheses may guide neurologists and medical geneticists to solve this difficult task. The aim of the present review is to propose a general method for diagnostic reasoning in neurogenetics, with the definition of the main neurological syndrome and its associated topographical diagnosis, followed by the identification of major and secondary neurological syndromes, extraneurological findings, and inheritance pattern. We also discuss general rules and knowledge requirements of the ordering physician to request genetic testing and information on how to interpret genetic variants in a genetic report. By guiding the requests for genetic testing according to an organized model of diagnostic reasoning and with the availability of specific treatments, clinicians may find greater resoluteness and efficacy in the diagnostic investigation, shortening the struggle of patients for a definitive diagnosis.
- Published
- 2022
- Full Text
- View/download PDF
9. Downbeat nystagmus and progressive ataxia in adults: consider Chiari malformation type 1
- Author
-
Breno Kazuo Massuyama, Thiago Cardoso Vale, Flávio Moura Rezende Filho, Orlando Graziani Povoas Barsottini, and José Luiz Pedroso
- Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Published
- 2023
- Full Text
- View/download PDF
10. What General Neurologists Should Know about Autoinflammatory Syndromes?
- Author
-
Marianna Pinheiro Moraes de Moraes, Renan Rodrigues Neves Ribeiro do Nascimento, Fabiano Ferreira Abrantes, José Luiz Pedroso, Sandro Félix Perazzio, and Orlando Graziani Povoas Barsottini
- Subjects
autoinflammatory disease ,hereditary periodic fever syndromes ,hereditary recurrent fever ,hereditary autoinflammatory disease ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
Autoinflammatory disorders encompass a wide range of conditions with systemic and neurological symptoms, which can be acquired or inherited. These diseases are characterized by an abnormal response of the innate immune system, leading to an excessive inflammatory reaction. On the other hand, autoimmune diseases result from dysregulation of the adaptive immune response. Disease flares are characterized by systemic inflammation affecting the skin, muscles, joints, serosa, and eyes, accompanied by unexplained fever and elevated acute phase reactants. Autoinflammatory syndromes can present with various neurological manifestations, such as aseptic meningitis, meningoencephalitis, sensorineural hearing loss, and others. Early recognition of these manifestations by general neurologists can have a significant impact on the prognosis of patients. Timely and targeted therapy can prevent long-term disability by reducing chronic inflammation. This review provides an overview of recently reported neuroinflammatory phenotypes, with a specific focus on genetic factors, clinical manifestations, and treatment options. General neurologists should have a good understanding of these important diseases.
- Published
- 2023
- Full Text
- View/download PDF
11. Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias
- Author
-
Gabriela Marchisio Giordani, Fabrício Diniz, Helena Fussiger, Carelis Gonzalez-Salazar, Karina Carvalho Donis, Fernando Freua, Roberta Paiva Magalhães Ortega, Julian Letícia de Freitas, Orlando Graziani Povoas Barsottini, Sergio Rosemberg, Fernando Kok, José Luiz Pedroso, Marcondes Cavalcante França, and Jonas Alex Morales Saute
- Subjects
Medicine ,Science - Abstract
Abstract The present study aimed to characterize clinical and molecular data of a large cohort of subjects with childhood-onset hereditary spastic paraplegias (HSPs). A multicenter historical cohort was performed at five centers in Brazil, in which probands and affected relatives' data from consecutive families with childhood-onset HSP (onset
- Published
- 2021
- Full Text
- View/download PDF
12. Immunosuppressors and immunomodulators in Neurology - Part I: a guide for management of patients underimmunotherapy
- Author
-
Fabiano Ferreira Abrantes, Marianna Pinheiro Moraes de Moraes, José Marcos Vieira de Albuquerque Filho, Jéssica Monique Dias Alencar, Alexandre Bussinger Lopes, Wladimir Bocca Vieira de Rezende Pinto, Paulo Victor Sgobbi de Souza, Enedina Maria Lobato de Oliveira, Acary de Souza Bulle de Oliveira, José Luiz Pedroso, and Orlando Graziani Povoas Barsottini
- Subjects
Immunosuppressive Agents ,Immunologic Factors ,Adrenal Cortex Hormones ,Multiple Sclerosis ,Autoimmune Diseases ,Neurology ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
ABSTRACT For patients with autoimmune diseases, the risks and benefits of immunosuppressive or immunomodulatory treatment are a matter of continual concern. Knowledge of the follow-up routine for each drug is crucial, in order to attain better outcomes and avoid new disease activity or occurrence of adverse effects. To achieve control of autoimmune diseases, immunosuppressive and immunomodulatory drugs act on different pathways of the immune response. Knowledge of the mechanisms of action of these drugs and their recommended doses, adverse reactions and risks of infection and malignancy is essential for safe treatment. Each drug has a specific safety profile, and management should be adapted for different circumstances during the treatment. Primary prophylaxis for opportunistic infections and vaccination are indispensable steps during the treatment plan, given that these prevent potential severe infectious complications. General neurologists frequently prescribe immunosuppressive and immunomodulatory drugs, and awareness of the characteristics of each drug is crucial for treatment success. Implementation of a routine before, during and after use of these drugs avoids treatment-related complications and enables superior disease control.
- Published
- 2021
- Full Text
- View/download PDF
13. A journey through the history of Neurogenetics
- Author
-
Thiago Yoshinaga Tonholo SILVA, José Luiz PEDROSO, Marcondes Cavalcante FRANÇA JUNIOR, and Orlando Graziani Povoas BARSOTTINI
- Subjects
Genetic Diseases, Inborn ,History ,Neurology ,Genetics ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
ABSTRACT Since the late 19th century, when several inherited neurological disorders were described, the close relationship between Neurology and heredity were well documented by several authors in a pre-genetic era. The term Neurogenetics came to integrate two large sciences and clinical practices: Neurology and Genetics. Neurogenetics is the emerging field that studies the correlation between genetic code and the development and function of the nervous system, including behavioral traits, personality and neurological diseases. In this historical note, a timeline shows the main events and contributors since the first reports of neurogenetic diseases until the current days. In the recent years, neurologists are experiencing much broader use of new genetic diagnosis techniques in clinical practice. Thus, new challenges are arising in diagnostic approach, ethical considerations, and therapeutic options. This article aims to summarize the main historical hallmarks of Neurogenetics, from the pre-DNA era to the present, and the future directions of the field.
- Published
- 2021
- Full Text
- View/download PDF
14. Surgical mask-induced dyskinesia: a rare COVID-19 pandemics complication
- Author
-
Thiago Yoshinaga Tonholo Silva, Lucas de Oliveira Cantaruti Guida, José Luiz Pedroso, and Orlando Graziani Povoas Barsottini
- Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Published
- 2023
- Full Text
- View/download PDF
15. Nystagmus may be the first neurological sign in early stages of spinocerebellar ataxia type 3
- Author
-
Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Thiago Junqueira Ribeiro Rezende, Pedro Braga Neto, Marcondes Cavalcante França Junior, José Luiz Pedroso, and Orlando Graziani Povoas Barsottini
- Subjects
Machado-Joseph Disease ,Ataxin-3 ,Neurodegenerative Diseases ,Cerebellar Ataxia ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
Abstract Background: Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant spinocerebellar ataxia worldwide. Almost all patients with SCA3 exhibit nystagmus and/or saccades impairment. Objective: To investigate the presence of nystagmus as an early neurological manifestation, before ataxia, in some patients with SCA3 in the first six months of the disease. Methods: We evaluated a series of 155 patients with clinically and molecularly proven SCA3 between 2013 and 2020. Data regarding sex, age, age at onset, disease duration, CAG repeat expansion length, first symptom, presence of ataxia, scores on SARA and ICARS scales, and presence and characteristics of nystagmus were collected. Results: We identified seven patients with symptomatic SCA3 who presented with isolated nystagmus. In these seven individuals the age at onset ranged from 24 to 57 years, and disease duration from four to six months. Conclusions: Our study showed that nystagmus may be the first neurological sign in SCA3. This clinical observation reinforces the idea that the neurodegenerative process in SCA3 patients may start in vestibular system connections or in flocculonodular lobe. This study adds relevant information about pre-symptomatic features in SCA3 that may work as basis for a better understanding of brain degeneration and for future therapeutic clinical trials.
- Published
- 2021
- Full Text
- View/download PDF
16. A clinical approach to hypertrophic pachymeningitis
- Author
-
Fabiano Ferreira Abrantes, Marianna Pinheiro Moraes de Moraes, Flávio Moura Rezende Filho, José Luiz Pedroso, and Orlando Graziani Povoas Barsottini
- Subjects
Pachymeningitis ,Granulomatosis with Polyangiitis ,Immunoglobulin G4-Related Disease ,Sarcoidosis ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
ABSTRACT Importance: Hypertrophic pachymeningitis (HP) is a non-usual manifestation of rheumatologic, infectious, and neoplastic diseases. Etiological diagnosis is a challenge, but when made promptly it creates a window of opportunity for treatment, with the possibility of a total reversal of symptoms. Observations: HP is an inflammatory process of the dura mater that can occur as a manifestation of sarcoidosis, granulomatosis with polyangiitis, and IgG4-related disease. The HP case evaluation is extensive and includes central nervous system imaging, cerebrospinal fluid analysis, serology, rheumatologic tests, and systemic survey for other manifestations sites. After systemic investigation, meningeal biopsy might be necessary. Etiology guides HP treatment, and autoimmune disorders are treated with corticosteroids alone or associated with an immunosuppressor. Conclusion: HP is a manifestation of several diseases, and a precise etiological diagnosis is crucial because of the difference among treatments. An extensive investigation of patients with HP helps early diagnosis and correct treatment.
- Published
- 2020
- Full Text
- View/download PDF
17. Conus medullaris syndrome in Vogt-Koyanagi-Harada disease: an unusual presentation
- Author
-
Fabiano Ferreira de Abrantes, Marianna Pinheiro Moraes de Moraes, Wardislau Ferreira, Flávio Moura Rezende Filho, José Luiz Pedroso, and Orlando Graziani Povoas Barsottini
- Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Published
- 2022
- Full Text
- View/download PDF
18. Acute Parkinsonism and basal ganglia lesions after wasp sting
- Author
-
Thiago Frederico de Andrade van Agt, Karina Lúcia Soares de Oliveira, Marcos Eugênio Ramalho Bezerra, José Luiz Pedroso, Clélia Maria Ribeiro Franco, and Eduardo Sousa de Melo
- Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Published
- 2022
- Full Text
- View/download PDF
19. Simultaneous mixed phenotype and neuroimaging of progressive supranuclear palsy, progressive ataxia and palatal tremor: two different faces of tauopathies
- Author
-
Leonardo Furtado Freitas, Victor Moreira de Carvalho, José Luiz Pedroso, Márcio Luís Duarte, and Rodrigo Meirelles Massaud
- Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Published
- 2022
- Full Text
- View/download PDF
20. Rehabilitation in patients with cerebellar ataxias
- Author
-
Hsin Fen Chien, Marise Bueno Zonta, Janini Chen, Giovana Diaferia, Celiana Figueiredo Viana, Hélio Afonso Ghizoni Teive, José Luiz Pedroso, and Orlando Graziani Povoas Barsottini
- Subjects
Cerebellar Ataxia ,Rehabilitation ,Physical Therapy Specialty ,Speech Therapy ,Occupational Therapy ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
ABSTRACT Cerebellar ataxias comprise a heterogeneous group of diseases characterized by motor and non-motor symptoms, which can be acquired, degenerative, or have a genetic cause, such as spinocerebellar ataxias (SCA). Usually, the genetic and neurodegenerative forms of cerebellar ataxias present a progressive and inevitable worsening of the clinical picture so that rehabilitation treatment is fundamental. Rehabilitation treatment includes physical therapy, respiratory therapy, speech, voice and swallowing therapy, occupational therapy, and new technologies, such as the use of exergames. The current treatment of patients with cerebellar ataxias, especially neurodegenerative forms, genetic or not, should include these different forms of rehabilitation, with the main objective of improving the quality of life of patients.
- Published
- 2022
- Full Text
- View/download PDF
21. Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease
- Author
-
Raphael Machado CASTILHOS, Marina Coutinho AUGUSTIN, José Augusto dos SANTOS, José Luiz PEDROSO, Orlando BARSOTTINI, Roberta SABA, Henrique Ballalai FERRAZ, Fernando Regla VARGAS, Gabriel Vasata FURTADO, Marcia Polese-BONATTO, Luiza Paulsen RODRIGUES, Lucas Schenatto SENA, Carmen Regla VARGAS, Maria Luiza SARAIVA-PEREIRA, Laura Bannach JARDIM, and Rede NEUROGENÉTICA
- Subjects
Biomarkers ,Amino Acids, Branched-Chain ,Carnitine ,Huntington Disease ,Weight Loss ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
ABSTRACT Background: Huntington’s disease (HD), caused by an expanded CAG repeat at HTT, has no treatment, and biomarkers are needed for future clinical trials. Objective: The objective of this study was to verify if free carnitine and branched chain amino acids levels behave as potential biomarkers in HD. Methods: Symptomatic and asymptomatic HD carriers and controls were recruited. Age, sex, body mass index (BMI), age of onset, disease duration, UHDRS scores, and expanded CAG tract were obtained; valine, leucine, isoleucine, and free carnitine were measured. Baseline and longitudinal analysis were performed. Results: Seventy-four symptomatic carriers, 20 asymptomatic carriers, and 22 non-carriers were included. At baseline, valine levels were reduced in symptomatic and asymptomatic HD carriers when compared to non-carriers. No difference in free carnitine or isoleucine+leucine levels were observed between groups. BMI of symptomatic individuals was lower than those of non-carriers. Valine levels correlated with BMI. Follow-up evaluation was performed in 43 symptomatic individuals. UHDRS total motor score increased 4.8 points/year on average. No significant reductions in BMI or valine were observed, whereas free carnitine and isoleucine+leucine levels increased. Conclusions: Although valine levels were lower in HD carriers and were related to BMI losses observed in pre-symptomatic individuals, none of these metabolites seem to be biomarkers for HD.
- Published
- 2020
- Full Text
- View/download PDF
22. Rett syndrome: the Brazilian contribution to the gene discovery
- Author
-
José Luiz Pinto Pereira, José Luiz Pedroso, Orlando G. P. Barsottini, Alex Tiburtino Meira, and Hélio A. G. Teive
- Subjects
Rett syndrome ,brain diseases ,genes ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
ABSTRACT A brief history of the syndrome discovered by Andreas Rett is reported in this paper. Although having been described in 1966, the syndrome was only recognized by the international community after a report by Hagberg et al. in 1983. Soon, its importance was evident as a relatively frequent cause of severe encephalopathy among girls. From the beginning it was difficult to explain the absence of male patients and the almost total predominance of sporadic cases (99%), with very few familial cases. For these reasons, it was particularly difficult to investigate this condition until 1997, when a particular Brazilian family greatly helped in the final discovery of the gene, and in the clarification of its genetic mechanism. Brief references are made to the importance of the MECP2 gene, 18 years later, as well as to its role in synaptogenesis and future prospects.
- Published
- 2020
- Full Text
- View/download PDF
23. Movement Disorders in Prionopathies: A Systematic Review
- Author
-
Federico Rodriguez-Porcel, Vinícius Boaratti Ciarlariello, Alok K. Dwivedi, Lilia Lovera, Gustavo Da Prat, Ricardo Lopez-Castellanos, Ritika Suri, Holly Laub, Ruth H. Walker, Orlando Barsottini, José Luiz Pedroso, and Alberto J. Espay
- Subjects
prion ,creutzfeldt–jakob ,gerstmann–sträussler–scheinker ,fatal familial insomnia ,movement disorders ,ataxia ,myoclonus ,Diseases of the musculoskeletal system ,RC925-935 ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Background: Movement disorders are frequent features of prionopathies. However, their prevalence and onset remain poorly described. Methods: We performed a systematic review of case reports and case series of pathologically- and genetically confirmed prionopathies. Timing of symptom and movement disorder onset were documented. Continuous variables were compared between two groups using the Wilcoxon rank sum test and between multiple groups using Kruskal–Wallis test. Categorical variables were compared using Fisher’s exact test. Results: A total of 324 cases were included in this analysis. Movement disorders were a common feature at the onset of symptoms in most prionopathies. Gait ataxia was present in more than half of cases in all types of prionopathies. The prevalence of limb ataxia (20%) and myoclonus (24%) was lower in Gerstmann–Sträussler–Scheinker disease compared to other prionopathies (p ≤ 0.004). Myoclonus was common but often a later feature in sporadic Creutzfeldt–Jakob disease (2 months before death). Chorea was uncommon but disproportionately prevalent in variant Creutzfeldt–Jakob disease (30% of cases; p < 0.001). In genetic Creutzfeldt–Jakob disease, E200K PRNP carriers exhibited gait and limb ataxia more often when compared to other mutation carriers. Discussion: Movement disorders are differentially present in the course of the various prionopathies. The movement phenomenology and appearance are associated with the type of prion disease and the PRNP genotype and likely reflect the underlying pattern of neurodegeneration. Reliance on myoclonus as a diagnostic feature of sporadic Creutzfeldt–Jakob disease may delay its recognition given its relatively late appearance in the disease course.
- Published
- 2019
- Full Text
- View/download PDF
24. Is Ataxia an Underestimated Symptom of Huntington's Disease?
- Author
-
Gustavo L. Franklin, Carlos Henrique F. Camargo, Alex T. Meira, Giovana M. Pavanelli, Sibele S. Milano, Francisco B. Germiniani, Nayra S. C. Lima, Salmo Raskin, Orlando Graziani Povoas Barsottini, José Luiz Pedroso, Fernanda Aparecida Maggi, Vitor Tumas, Pedro Manzke de Carvalho, Ana Carolina de Oliveira, Bárbara Braga, Laura Cristina Souza, Rachel Paes Guimarães, Luiza Gonzaga Piovesana, Íscia Teresinha Lopes-Cendes, Paula Christina de Azevedo, Marcondes Cavalcante França, Alberto Rolim Muro Martinez, and Hélio A. G. Teive
- Subjects
Huntington (disease) ,ataxia ,cerebellum ,chorea ,polyglutamine (polyQ) diseases ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Background: Huntington's disease (HD) is a progressive disorder characterized by motor, cognitive and psychiatric features. Cerebellar ataxia is classically considered as uncommon in HD clinical spectrum.Objective: To determine the prevalence of cerebellar ataxia in patients with HD, both in the early and in the late stages of HD.Methods: Seventy-two individuals considered eligible were assessed by two trained doctors, applying the Scale for Assessment and Rating of Ataxia (SARA) and Brief Ataxia Rating Scale (BARS) for ataxia, the Unified Huntington's Disease Rating Scale (UHDRS) and also, Barthel Index (BI), in order to evaluate functional capacity.Results: Fifty-one patients (70.8%) presented with clinical ataxia at the time of examination (mean time of disease was 9.1 years). Six (8.33%) patients presented with cerebellar ataxia as first symptom. When stratified according to time of disease, a decline in the presence of chorea (p = 0.032) and an increase in cognitive deficit (p = 0.023) were observed in the patients as the disease progressed. The presence of ataxia was associated with longer duration of illness and severity of illness (UHDRS) (p < 0.0001), and shorter Barthel (less functionality) (p = 0.001).Conclusions: Cerebellar involvement may play an important role in natural history of brain degeneration in HD. The presence of cerebellar ataxia in HD is relevant and it may occur even in early stages, and should be included as part of the motor features of the disease.
- Published
- 2020
- Full Text
- View/download PDF
25. X-linked adrenoleukodystrophy presenting as progressive ataxia and pure cerebellar involvement
- Author
-
Marianna Pinheiro Moraes de Moraes, Augusto Bragança Reis Rosa, Cristina Saade Jaques, Victor Hugo Rocha Marussi, José Luiz Pedroso, and Orlando Graziani Barsottini
- Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Published
- 2021
- Full Text
- View/download PDF
26. Neuroimaging features in diethylene glycol poisoning
- Author
-
Cilmário Leite da Silva Júnior, Leonardo Furtado Freitas, Mariana Leite Pereira, Juliana Souza Silva Elias, José Luiz Pedroso, and Victor Hugo Rocha Marussi
- Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Published
- 2021
- Full Text
- View/download PDF
27. Spinocerebellar ataxia type 3 presenting simultaneously with motor neuron disease and cerebellar ataxia
- Author
-
Cristina Saade Jaques, José Luiz Pedroso, Antônio José da Rocha, Wladimir Bocca Vieira de Resende Pinto, Acary Souza Bulle Oliveira, and Orlando G. P. Barsottini
- Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Published
- 2021
- Full Text
- View/download PDF
28. Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations
- Author
-
Fulya Akçimen, Jay P. Ross, Cynthia V. Bourassa, Calwing Liao, Daniel Rochefort, Maria Thereza Drumond Gama, Marie-Josée Dicaire, Orlando G. Barsottini, Bernard Brais, José Luiz Pedroso, Patrick A. Dion, and Guy A. Rouleau
- Subjects
ataxia ,RFC1 ,repeat-primed polymerase chain reaction ,repeat expansion disease ,canvas ,Genetics ,QH426-470 - Abstract
A biallelic pentanucleotide expansion in the RFC1 gene has been reported to be a common cause of late-onset ataxia. In the general population, four different repeat conformations are observed: wild type sequence AAAAG (11 repeats) and longer expansions of either AAAAG, AAAGG or AAGGG sequences. However only the biallelic AAGGG expansions were reported to cause late-onset ataxia. In this study, we aimed to assess the prevalence and nature of RFC1 repeat expansions in three cohorts of adult-onset ataxia cases: Brazilian (n = 23) and Canadian (n = 26) cases that are negative for the presence of variants in other known ataxia-associated genes, as well as a cohort of randomly selected Canadian cases (n = 128) without regard to a genetic diagnosis. We identified the biallelic AAGGG expansion in only one Brazilian family which presented two affected siblings, and in one Canadian case. We also observed two new repeat conformations, AAGAG and AGAGG, which suggests the pentanucleotide expansion sequence has a dynamic nature. To assess the frequency of these new repeat conformations in the general population, we screened 163 healthy individuals and observed the AAGAG expansion to be more frequent in cases than in control individuals. While additional studies will be necessary to asses the pathogenic impact of biallelic genotypes that include the novel expanded conformations, their occurrence should nonetheless be examined in future studies.
- Published
- 2019
- Full Text
- View/download PDF
29. The progression rate of spinocerebellar ataxia type 2 changes with stage of disease
- Author
-
Thais Lampert Monte, Estela da Rosa Reckziegel, Marina Coutinho Augustin, Lucas D. Locks-Coelho, Amanda Senna P. Santos, Gabriel Vasata Furtado, Eduardo Preusser de Mattos, José Luiz Pedroso, Orlando Póvoas Barsottini, Fernando Regla Vargas, Maria-Luiza Saraiva-Pereira, Suzi Alves Camey, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, and on behalf of Rede Neurogenética
- Subjects
Natural history ,NESSCA ,Progression rate ,SARA ,SCAFI ,Spinocerebellar ataxia type 2 ,Medicine - Abstract
Abstract Background Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. However, only the natural history of ataxia is well known, as measured during the study duration. We aimed to describe the progression rate of ataxia, by the Scale for the Assessment and Rating of Ataxia (SARA), as well as the progression rate of the overall neurological picture, by the Neurological Examination Score for Spinocerebellar Ataxias (NESSCA), and not only during the study duration but also in a disease duration model. Comparisons between these models might allow us to explore whether progression is linear during the disease duration in SCA2; and to look for potential modifiers. Results Eighty–eight evaluations were prospectively done on 49 symptomatic subjects; on average (SD), study duration and disease duration models covered 13 (2.16) months and 14 (6.66) years of individuals’ life, respectively. SARA progressed 1.75 (CI 95%: 0.92–2.57) versus 0.79 (95% CI 0.45 to 1.14) points/year in the study duration and disease duration models. NESSCA progressed 1.45 (CI 95%: 0.74–2.16) versus 0.41 (95% CI 0.24 to 0.59) points/year in the same models. In order to explain these discrepancies, the progression rates of the study duration model were plotted against disease duration. Then an acceleration was detected after 10 years of disease duration: SARA scores progressed 0.35 before and 2.45 points/year after this deadline (p = 0.013). Age at onset, mutation severity, and presence of amyotrophy, parkinsonism, dystonic manifestations and cognitive decline at baseline did not influence the rate of disease progression. Conclusions NESSCA and SARA progression rates were not constant during disease duration in SCA2: early phases of disease were associated with slower progressions. Modelling of future clinical trials on SCA2 should take this phenomenon into account, since disease duration might impact on inclusion criteria, sample size, and study duration. Our database is available online and accessible to future studies aimed to compare the present data with other cohorts.
- Published
- 2018
- Full Text
- View/download PDF
30. Ischaemic lumbosacral plexopathy following aortic dissection
- Author
-
Bruna Gutierres Gambirasio, Rodrigo Matos Amaral, Thiago Yoshinaga Tonholo Silva, Danilo Manuel Cerqueira Costa, Flavio Moura Rezende Filho, Pedro Henrique Reis Caldeira Brant, Marcio Luiz Escorcio-Bezerra, Orlando G P Barsottini, and José Luiz Pedroso
- Subjects
Neurology (clinical) ,General Medicine - Abstract
A 57-year-old man was diagnosed with acute myocardial infarction and Stanford type A aortic dissection that had spread to the common iliac arteries. He underwent a Bentall procedure for vascular repair. Immediately after surgery, he developed numbness and severe weakness in his left leg. On examination, he had hypotonia, absent deep tendon reflexes, weakness in the left leg (Medical Research Council (MRC) scale for muscle strength - 0/5 distal, 3/5 proximal) and reduced sensation in the left leg. Electromyography confirmed subacute involvement of the left lumbar and lumbosacral plexus. MR scan of the lumbar plexus showed diffuse muscle oedema involving the left gluteus maximus. We diagnosed ischaemic lumbosacral plexopathy secondary to extensive aorta dissection and internal iliac artery occlusion. We discuss the clinical features of ischaemic plexopathy and the diagnostic approach and review the vascular anatomy of the lumbosacral plexus.
- Published
- 2022
31. História e questionário nacional sobre martelos de reflexo: qual é o escolhido dos neurologistas brasileiros?
- Author
-
Caio César Diniz Disserol, Alex Tiburtino Meira, Carla Caroline Schramm, Gustavo Koiti Kondo, Gustavo Leite Franklin, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, and Hélio Afonso Ghizoni Teive
- Subjects
Reflex, Stretch ,History ,Neurologia ,Neurology ,História ,Reflexo de Estiramento ,Exame Neurológico ,Neurology (clinical) ,Percussão ,Neurological Examination ,Percussion - Abstract
Background Percussion is an important part of the neurological examination and reflex hammers are necessary to obtain it properly. Objective We aimed to review the historical aspects of the main reflex hammers and to define the favorite one of Brazilian neurologists. Methods We searched original and review articles about historical aspects of the reflex hammers in Scielo and Pubmed and conducted an online survey to investigate the favorite reflex hammer of Brazilian neurologists. Results In the first part, we describe the major milestones in the creation of the reflex hammers. Following, we exhibit the results of the online survey: Babinski-Rabiner was the most voted. Conclusions The origins of the reflex hammers goes back long before their creation, from a basic clinical examination method: percussion. Since the description of deep tendon reflexes and the creation of percussion hammers, much has been improved in this technique. Among all the hammers surveyed, the Babinski-Rabiner was the chosen one by a significant portion of Brazilian neurologists. Resumo Antecedentes A percussão é uma parte importante do exame neurológico e os martelos de reflexo são necessários para obtê-la adequadamente. Objetivo Nós visamos revisar os aspectos históricos dos principais martelos de reflexo neurológico e definir qual é o preferido dos neurologistas brasileiros. Métodos Procuramos artigos originais e artigos de revisão sobre os aspectos históricos dos martelos de reflexo na Scielo e no Pubmed, e conduzimos um questionário online para investigar qual é o preferido dos neurologistas brasileiros. Resultados Na primeira parte, descrevemos os principais marcos na criação dos martelos de reflexo. Na sequência, expomos os resultados do questionário online: Babinski-Rabiner foi o martelo mais votado. Conclusões A origem dos martelos de reflexos vem muito antes de sua criação, a partir de um método de exame clínico básico: a percussão. Desde a descrição dos reflexos tendinosos profundos e da criação de martelos de percussão, muito se aperfeiçoou sobre essa técnica. Dentre todos os martelos pesquisados, o de Babinski-Rabiner foi o escolhido por uma parcela significativa dos neurologistas brasileiros.
- Published
- 2023
32. <scp>RFC1</scp> ‐Related Disorder: In Vivo Evaluation of Spinal Cord Damage
- Author
-
Thiago J.R. Rezende, Gabriel S. Schmitt, Fabricio D. de Lima, Mariana Rabelo de Brito, Paula Camila A.A.P. Matos, Luciana Cardoso Bonadia, Alberto R.M. Martinez, Fernando Cendes, José Luiz Pedroso, Orlando G.P. Barsottini, Wilson Marques, and Marcondes Cavalcante França
- Subjects
Diffusion Magnetic Resonance Imaging ,Neurology ,Pyramidal Tracts ,Humans ,Neurology (clinical) ,Gray Matter ,Magnetic Resonance Imaging ,White Matter - Abstract
RFC1-related disorder is a novel heredodegenerative condition with a broad phenotypic spectrum. Its neuropathological bases are not yet fully understood, particularly regarding the pattern, extent, and clinical relevance of spinal cord (SC) damage.The objectives were to determine the SC structural signature in RFC1-related disorder in vivo and to identify potential clinical correlates for these imaging abnormalities.We enrolled 17 subjects with biallelic RFC1 (AAGGG)n expansions and 11 age- and sex-matched healthy controls that underwent multimodal magnetic resonance imaging SC acquisitions in a 3T Philips Achieva scanner. Both global morphometry and tract-specific analyses were then performed across all cervical levels. Between-group comparisons were assessed using nonparametric tests.In the patient group, mean age and disease duration were 62.9 ± 9.3 and 9.3 ± 4.0, respectively. Compared to controls, patients had remarkable SC cross-sectional area reduction along all cervical levels but anteroposterior flattening only in the lower cervical levels. There was also prominent SC gray matter atrophy. Diffusivity abnormalities were identified in the dorsal columns but not in the lateral corticospinal tracts. Disease severity did not correlate with these imaging parameters.SC damage is a hallmark of RFC1-related disorder and characterized by gray as well as white matter involvement. In particular, dorsal columns are severely and diffusely affected. The clinical correlates of these imaging abnormalities still deserve additional investigations. © 2022 International Parkinson and Movement Disorder Society.
- Published
- 2022
33. Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives
- Author
-
Felipe Franco da Graça, Thiago Junqueira Ribeiro de Rezende, Luiz Felipe Rocha Vasconcellos, José Luiz Pedroso, Orlando Graziani P. Barsottini, and Marcondes C. França
- Subjects
MRI ,hereditary spastic paraplegia ,diagnosis ,DTI ,spinal cord ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Hereditary spastic paraplegias (HSP) are a large group of genetic diseases characterized by progressive degeneration of the long tracts of the spinal cord, namely the corticospinal tracts and dorsal columns. Genotypic and phenotypic heterogeneity is a hallmark of this group of diseases, which makes proper diagnosis and management often challenging. In this scenario, magnetic resonance imaging (MRI) emerges as a valuable tool to assist in the exclusion of mimicking disorders and in the detailed phenotypic characterization. Some neuroradiological signs have been reported in specific subtypes of HSP and are therefore helpful to guide genetic testing/interpretation. In addition, advanced MRI techniques enable detection of subtle structural abnormalities not visible on routine scans in the spinal cord and brain of subjects with HSP. In particular, quantitative spinal cord morphometry and diffusion tensor imaging look promising tools to uncover the pathophysiology and to track progression of these diseases. In the current review article, we discuss the current use and future perspectives of MRI in the context of HSP.
- Published
- 2019
- Full Text
- View/download PDF
34. Translation, Cross-Cultural Adaptation, and Validation to Brazilian Portuguese of the Cerebellar Cognitive Affective/Schmahmann Syndrome Scale
- Author
-
Stephanie Suzanne de Oliveira Scott, José Luiz Pedroso, Victor Vitalino Elias, Paulo Ribeiro Nóbrega, Emmanuelle Silva Tavares Sobreira, Marcela Patrícia de Almeida, Maria Thereza Drumond Gama, Breno Kazuo Massuyama, Orlando Graziani Povoas Barsottini, Norberto Anizio Ferreira Frota, and Pedro Braga-Neto
- Subjects
Neurology ,Neurology (clinical) - Abstract
Cerebellar cognitive affective syndrome (CCAS) is characterized by deficits in executive functions, language processing, spatial orientation, and affect regulation in patients with cerebellar disease. The symptoms can occur isolated or along with motor and coordination symptoms. The aim of our study was to translate and culturally adapt the CCAS scale to Brazilian Portuguese and validate the scale in our population. We performed a cross-sectional study with patients with primary and secondary ataxia. The study included 111 individuals, aged between 20 and 80 years, of both genders, 20 without cognitive and/or affective complaints who participated in the pre-test phase, 40 with cerebellar disease (hereditary/neurodegenerative ataxia or acquired/secondary cerebellar ataxia), and 51 healthy controls with no evidence of cognitive impairment and no affective symptoms matched for sex, age, and educational level. The scale was translated, culturally adapted, and validated. Statistical analysis of the data was performed, with association tests, mean comparison, and ROC curve analysis. Based on the analysis of the ROC curve, optimal cutoff values were found for each subitem of the scale. The translated and adapted scale has good internal consistency, is reproducible, has good reliability, and has the potential to be a reliable tool for screening cognitive symptoms in patients with cerebellar disease.
- Published
- 2022
35. A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
- Author
-
Rubens Paulo Araújo Salomão, José Luiz Pedroso, Maria Thereza Drumond Gama, Lívia Almeida Dutra, Ricardo Horta Maciel, Clécio Godeiro-Junior, Hsin Fen Chien, Hélio A. G. Teive, Francisco Cardoso, and Orlando G. P. Barsottini
- Subjects
Neurodegeneração com acúmulo cerebral de ferro ,NBIA ,sinais clínicos ,neuroimagem ,genética ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
ABSTRACT Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology.
- Published
- 2016
- Full Text
- View/download PDF
36. Current concepts in the treatment of hereditary ataxias
- Author
-
Pedro Braga Neto, José Luiz Pedroso, Sheng-Han Kuo, C. França Marcondes Junior, Hélio Afonso Ghizoni Teive, and Orlando Graziani Povoas Barsottini
- Subjects
ataxias hereditárias ,tratamento ,terapia de reabilitação ,terapia modificadora da doença ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
ABSTRACT Hereditary ataxias (HA) represents an extensive group of clinically and genetically heterogeneous neurodegenerative diseases, characterized by progressive ataxia combined with extra-cerebellar and multi-systemic involvements, including peripheral neuropathy, pyramidal signs, movement disorders, seizures, and cognitive dysfunction. There is no effective treatment for HA, and management remains supportive and symptomatic. In this review, we will focus on the symptomatic treatment of the main autosomal recessive ataxias, autosomal dominant ataxias, X-linked cerebellar ataxias and mitochondrial ataxias. We describe management for different clinical symptoms, mechanism-based approaches, rehabilitation therapy, disease modifying therapy, future clinical trials and perspectives, genetic counseling and preimplantation genetic diagnosis.
- Published
- 2016
- Full Text
- View/download PDF
37. Clinical and epidemiological profiles of non-traumatic myelopathies
- Author
-
Wladimir Bocca Vieira de Rezende Pinto, Paulo Victor Sgobbi de Souza, Marcus Vinícius Cristino de Albuquerque, Lívia Almeida Dutra, José Luiz Pedroso, and Orlando Graziani Povoas Barsottini
- Subjects
doenças medulares ,mielite ,paraparesia ,mielopatia ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
ABSTRACT Non-traumatic myelopathies represent a heterogeneous group of neurological conditions. Few studies report clinical and epidemiological profiles regarding the experience of referral services. Objective To describe clinical characteristics of a non-traumatic myelopathy cohort. Method Epidemiological, clinical, and radiological variables from 166 charts of patients assisted between 2001 and 2012 were compiled. Results The most prevalent diagnosis was subacute combined degeneration (11.4%), followed by cervical spondylotic myelopathy (9.6%), demyelinating disease (9%), tropical spastic paraparesis (8.4%) and hereditary spastic paraparesis (8.4%). Up to 20% of the patients presented non-traumatic myelopathy of undetermined etiology, despite the broad clinical, neuroimaging and laboratorial investigations. Conclusion Regardless an extensive evaluation, many patients with non-traumatic myelopathy of uncertain etiology. Compressive causes and nutritional deficiencies are important etiologies of non-traumatic myelopathies in our population.
- Published
- 2016
- Full Text
- View/download PDF
38. Diagnostic reasoning in neurogenetics: a general approach
- Author
-
Helena Fussiger, José Luiz Pedroso, and Jonas Alex Morales Saute
- Subjects
Neurologia ,Neurology ,Genetics, Medical ,Genética Médica ,Diagnóstico ,Diagnosis ,Humans ,Neurology (clinical) ,Neurologists ,Genetic Testing - Abstract
Establishing the definitive diagnosis of a neurogenetic disease is usually a complex task. However, like any type of clinical diagnostic reasoning, an organized process of development and consideration of diagnostic hypotheses may guide neurologists and medical geneticists to solve this difficult task. The aim of the present review is to propose a general method for diagnostic reasoning in neurogenetics, with the definition of the main neurological syndrome and its associated topographical diagnosis, followed by the identification of major and secondary neurological syndromes, extraneurological findings, and inheritance pattern. We also discuss general rules and knowledge requirements of the ordering physician to request genetic testing and information on how to interpret genetic variants in a genetic report. By guiding the requests for genetic testing according to an organized model of diagnostic reasoning and with the availability of specific treatments, clinicians may find greater resoluteness and efficacy in the diagnostic investigation, shortening the struggle of patients for a definitive diagnosis. Resumo Estabelecer o diagnóstico definitivo de uma condição neurogenética geralmente é uma tarefa complexa; entretanto, semelhante a qualquer raciocínio diagnóstico clínico, um processo organizado de formulação e ponderação de hipóteses diagnósticas pode ajudar neurologistas e médicos geneticistas a resolverem essa difícil tarefa. O objetivo desta revisão é propor um método geral de raciocínio diagnóstico em neurogenética, com a definição da síndrome neurológica principal e seu diagnóstico topográfico associado, seguidos da identificação das síndromes neurológicas principais e secundárias, dos achados extraneurológicos, e do padrão de herança. Também discutimos as regras gerais e os requisitos de conhecimento do médico solicitante para o pedido de teste genético e informações sobre como interpretar variantes genéticas quando recebemos um laudo. Ao orientar a solicitação de exames genéticos de acordo com um modelo organizado de raciocínio diagnóstico e com a disponibilidade de tratamentos específicos, o clínico poderá encontrar maior resolutividade e eficiência na investigação diagnóstica, o que encurtará a odisseia do paciente para um diagnóstico definitivo.
- Published
- 2023
39. Effect of speech therapy on quality of life in patients with spinocerebelar ataxia type 3
- Author
-
Giovana Diaféria, Silvana Bommarito, Pedro Braga Neto, Sung Woo Park, Marina Padovani, Fernanda Haddad, Leonardo Haddad, Mariana Callil Voos, Hsin Fen Chien, José Luiz Pedroso, and Orlando Barsottini
- Subjects
Adult ,Cerebellar Ataxia ,Transtornos de Deglutição ,Dysarthria ,Disartria ,Machado-Joseph Disease ,Middle Aged ,Speech Therapy ,Doença de Machado-Joseph ,Neurology ,Fonoterapia ,Quality of Life ,Humans ,Ataxia ,Neurology (clinical) ,Deglutition Disorders ,Qualidade de Vida - Abstract
Background Individuals with spinocerebellar ataxia type 3 (SCA3) present communication and swallowing disorders, and consequent deterioration in quality of life (QOL). Objective To evaluate the impact of a speech therapy rehabilitation program on the QOL of patients with SCA3. Methods All participants were randomly assigned to two groups, an intervention group receiving speech therapy (STG) and a control group (CG). The International Cooperative Ataxia Rating Scale scores were 32.4 ± 20.2, and the Scale for the Assessment and Rating of Ataxia scores were 11.8 ± 8.0. The intervention consisted of a 12-session speech therapy rehabilitation program with oral, pharyngeal, and laryngeal strengthening exercises—the so-called ATAXIA–Myofunctional Orofacial and Vocal Therapy (A-MOVT). They all were submitted to pre- and postintervention evaluations using the World Health Organization's Quality of Life (WHOQOL-BREF) assessment, as well as the Living with Dysarthria (LwD), Quality of Life in Swallowing Disorders (SWAL-QOL), and Food Assessment Tool (EAT-10). Results The study sample consisted of 48 patients with SCA3 (STG = 25; CG = 23), mean age was 47.1 ± 11.4 years; mean age at symptom onset was 36.9 ± 11.3 years; disease duration was 11.9 ± 13.3 years. After the 3-month intervention, there were significant changes in the QOL in the STG compared with the CG, when assessed by the LwD (179.12 ± 62.55 vs. 129.88 ± 51.42, p < 0.001), SWAL-QOL (869.43 ± 153.63 vs. 911.60 ± 130.90, p = 0.010), and EAT-10 (5.16 ± 7.55 vs. 2.08 ± 3.85, p = 0.018). Conclusions Patients with SCA3 should receive continuous speech therapy as part of the A-MOVT program, because therapy helps to improve difficulty swallowing and dysarthria. Resumo Antecedentes Indivíduos com ataxia espinocerebelar tipo 3 (AEC3) apresentam distúrbios da comunicação e deterioração da deglutição e, consequentemente, na qualidade de vida (QV). Objetivo Avaliar o impacto de um programa de reabilitação fonoaudiológica na QV em pacientes com AEC3. Métodos Todos os participantes foram alocados aleatoriamente em dois grupos, um grupo intervenção que recebeu terapia fonoaudiológica (GTF) e um grupo controle (GC). As pontuações das escalas: International Cooperative Ataxia Rating Scale (ICARS) foram 32,4 ± 20,2 e da Scale for the Assessment and Rating of Ataxia (SARA) foram 11,8 ± 8,0. A intervenção consistiu em um programa de reabilitação fonoaudiológica de 12 sessões composto por exercícios de fortalecimento oral, faríngeo e laríngeo - denominados ATAXIA - Terapia Miofuncional Orofacial e Vocal (A-TMOV). Todos foram submetidos a avaliações pré e pós-intervenção por meio dos protocolos World Health Organization's Quality of Life (WHOQOL-BREF), Vivendo com Disartria (VcD), Quality of Life in Swallowing Disorders (SWAL-QOL) e Food Assessment Tool (EAT-10). Resultados A amostra foi composta por 48 pacientes com AEC3 (25 no GTF e 23 no GC), média de idade 47,1 ± 11,4anos; média de idade de início dos sintomas 36,9 ± 11,3anos; duração da doença 11,9 ± 13,3anos. Após intervenção de três meses, houve mudanças significativas na QV no GTF em comparação com o GC quando avaliado pelo VcD (179,12 ± 62,55 versus129,88 ± 51,42, p < 0,001), SWAL-QOL (869,43 ± 153,63 versus 911,60 ± 130,90, p = 0,010), EAT-10 (5,16 ± 7,55 versus 2,08 ± 3,85, p = 0,018). Conclusões Pacientes com AEC3 devem receber terapia fonoaudiológica contínua como parte do programa A-TMOV, pois a terapia ajuda a melhorar a dificuldade de deglutição e a disartria.
- Published
- 2023
40. A Diagnostic Approach to Spastic ataxia Syndromes
- Author
-
José Luiz Pedroso, Marcelo Andrés Kauffman, Renato P. Munhoz, Hélio A.G. Teive, Thiago Cardoso Vale, Orlando Graziani Povoas Barsottini, and Marcondes Cavalcante França Junior
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Neurology ,Ataxia ,Hereditary spastic paraplegia ,Neuroimaging ,Intellectual Disability ,medicine ,Spastic ,Humans ,Spinocerebellar Ataxias ,Spasticity ,Cerebellar ataxia ,Spastic Paraplegia, Hereditary ,business.industry ,Syndrome ,medicine.disease ,nervous system diseases ,Optic Atrophy ,Muscle Spasticity ,Mutation ,Neurology (clinical) ,medicine.symptom ,Differential diagnosis ,business ,Neuroscience - Abstract
Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is the hallmark of some hereditary ataxias, but it can also occur in some spastic paraplegias and acquired conditions. It often presents with heterogenous clinical features with other neurologic and non-neurological symptoms, resulting in complex phenotypes. In this review, the differential diagnosis of spastic ataxias are discussed and classified in accordance with inheritance. Establishing an organized classification method based on mode inheritance is fundamental for the approach to patients with these syndromes. For each differential, the clinical features, neuroimaging and genetic aspects are reviewed. A diagnostic approach for spastic ataxias is then proposed.
- Published
- 2021
41. Imunossupressores e imunomoduladores em Neurologia - Parte I: um guia para o manejo de pacientes em imunoterapia
- Author
-
Orlando Graziani Povoas Barsottini, Acary Souza Bulle Oliveira, Enedina Maria Lobato de Oliveira, Fabiano Ferreira Abrantes, Jéssica Monique Dias Alencar, Wladimir Bocca Vieira de Rezende Pinto, José Luiz Pedroso, Marianna Pinheiro Moraes de Moraes, Alexandre Bussinger Lopes, Paulo Victor Sgobbi de Souza, and José Marcos Vieira de Albuquerque Filho
- Subjects
Drug ,medicine.medical_specialty ,Neurology ,Multiple Sclerosis ,media_common.quotation_subject ,Neurosciences. Biological psychiatry. Neuropsychiatry ,Malignancy ,Autoimmune Diseases ,Neurologia ,Immune system ,Fatores Imunológicos ,Treatment plan ,Adrenal Cortex Hormones ,medicine ,Humans ,Immunologic Factors ,Adverse effect ,Intensive care medicine ,media_common ,Imunossupressores ,business.industry ,Corticosteroides ,medicine.disease ,Vaccination ,Safety profile ,Doenças Autoimunes ,Esclerose Múltipla ,Neurology (clinical) ,business ,Immunosuppressive Agents ,RC321-571 - Abstract
For patients with autoimmune diseases, the risks and benefits of immunosuppressive or immunomodulatory treatment are a matter of continual concern. Knowledge of the follow-up routine for each drug is crucial, in order to attain better outcomes and avoid new disease activity or occurrence of adverse effects. To achieve control of autoimmune diseases, immunosuppressive and immunomodulatory drugs act on different pathways of the immune response. Knowledge of the mechanisms of action of these drugs and their recommended doses, adverse reactions and risks of infection and malignancy is essential for safe treatment. Each drug has a specific safety profile, and management should be adapted for different circumstances during the treatment. Primary prophylaxis for opportunistic infections and vaccination are indispensable steps during the treatment plan, given that these prevent potential severe infectious complications. General neurologists frequently prescribe immunosuppressive and immunomodulatory drugs, and awareness of the characteristics of each drug is crucial for treatment success. Implementation of a routine before, during and after use of these drugs avoids treatment-related complications and enables superior disease control. RESUMO Pacientes com doenças autoimunes exigem uma constante preocupação com os riscos e benefícios do tratamento imunossupressor ou imunomodulador. O conhecimento das rotinas no uso de cada uma dessas drogas é fundamental para o bom desfecho clínico, evitando a piora da doença ou efeitos colaterais. As drogas imunossupressoras e imunomoduladoras agem em diferentes pontos da resposta imunológica a fim de controlar a doença para qual são indicadas. O conhecimento do mecanismo de ação, principais posologias, efeitos adversos e os riscos de infecções e neoplasias relacionadas ao uso dessas medicações são fundamentais para um tratamento seguro. Cada uma delas apresenta um perfil específico de complicações e o manejo deve ser individualizado em diferentes cenários ao longo do seguimento do paciente. O uso de medicações para profilaxia primária de infecções e a vacinação são pontos essenciais no planejamento do tratamento, prevenindo potenciais complicações infecciosas ao longo do acompanhamento. O uso de imunossupressores e imunomoduladores é uma frequente realidade no dia-a-dia do neurologista, e o conhecimento das características de cada droga é crucial para o sucesso do tratamento. A realização de uma rotina antes, durante e depois do uso dessas medicações evita complicações relacionadas com o tratamento e alcança um melhor controle da doença.
- Published
- 2021
42. Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias
- Author
-
Fabrício Diniz, José Luiz Pedroso, Júlian Letícia de Freitas, Gabriela Marchisio Giordani, Fernando Kok, Karina Carvalho Donis, Helena Fussiger, Roberta Paiva Magalhães Ortega, Carelis González-Salazar, Fernando Freua, Sérgio Rosemberg, Orlando Graziani Povoas Barsottini, Jonas Alex Morales Saute, and Marcondes C. França
- Subjects
Proband ,Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Genetics of the nervous system ,Neurology ,Spastin ,Adolescent ,Genotype ,Science ,Article ,Cohort Studies ,Young Adult ,Spastic ,Genetics ,Medicine ,Missense mutation ,Humans ,Sequencing ,Genetic Predisposition to Disease ,Age of Onset ,Child ,Survival analysis ,Alleles ,Multidisciplinary ,business.industry ,Spastic Paraplegia, Hereditary ,Medical genetics ,Disease Management ,High-Throughput Nucleotide Sequencing ,Magnetic Resonance Imaging ,Phenotype ,Population Surveillance ,Diseases of the nervous system ,Female ,Disease Susceptibility ,Differential diagnosis ,Symptom Assessment ,business ,Historical Cohort ,Brazil ,Neurological disorders ,Neuroscience - Abstract
The present study aimed to characterize clinical and molecular data of a large cohort of subjects with childhood-onset hereditary spastic paraplegias (HSPs). A multicenter historical cohort was performed at five centers in Brazil, in which probands and affected relatives' data from consecutive families with childhood-onset HSP (onset . Missense pathogenic variants in SPAST were found in 54.5% of probands, favoring the association of this type of variant to childhood-onset SPG4. Survival curves to major handicap and cross-sectional Spastic Paraplegia Rating Scale progressions confirmed the slow neurological deterioration in SPG4 and SPG3A. Most common complicating features and twenty variants not previously described in HSP-related genes were reported. These results are fundamental to understand the molecular and clinical epidemiology of childhood-onset HSP, which might help on differential diagnosis, patient care and guiding future collaborative trials for these rare diseases.
- Published
- 2021
43. Dystonia, Chorea, and Ataxia: Three Challenging Cases
- Author
-
José Luiz Pedroso, Thiago Cardoso Vale, Alex Tiburtino Meira, Pedro Braga-Neto, Orlando G. P. Barsottini, and Alberto J. Espay
- Subjects
Neurology ,Neurology (clinical) - Abstract
Movement disorders comprise a heterogeneous and complex group of neurological disorders that increase (hyperkinetic) or decrease (hypokinetic) the speed or amplitude of movements, or disrupt their coordinated sequencing. In this article, we describe three instructive cases, exemplifying classic movement disorders, namely dystonia, chorea, and ataxia. We highlight the diagnostic approach based on clinical clues, syndromic reasoning, evaluation, and management recommendations. Each case ends with key messages for the clinicians.
- Published
- 2022
44. Aniridia as a clue for the diagnosis of Gillespie syndrome
- Author
-
Flávio Moura REZENDE FILHO, José Luiz PEDROSO, Júlian Letícia de FREITAS, Luis Fernando TEIXEIRA, and Orlando Graziani Povoas BARSOTTINI
- Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Published
- 2020
- Full Text
- View/download PDF
45. Septo-optic dysplasia with late-onset seizure: MRI and ophthalmological features
- Author
-
Julian Letícia Freitas, Flávio Moura Rezende Filho, Leandro Tavares Lucato, Juliana Maria Sallum, José Luiz Pedroso, and Orlando G. Barsottini
- Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Published
- 2019
- Full Text
- View/download PDF
46. ASYMPTOMATIC RETINAL NERVE FIBER LAYER THICKENING IN A PATIENT WITH ATAXIA
- Author
-
Orlando Graziani Póvoas Barsottini, Juliana Maria Ferraz Sallum, Eduardo Cunha de Souza, Flávio Moura Rezende Filho, Chandrakumar Balaratnasingam, Jose S. Pulido, Mauro Goldbaum, Luiz H. Lima, and José Luiz Pedroso
- Subjects
Pathology ,medicine.medical_specialty ,Ataxia ,business.industry ,Nerve fiber layer ,Retinal ,General Medicine ,Asymptomatic ,Retina ,Ophthalmology ,chemistry.chemical_compound ,Nerve Fibers ,Text mining ,medicine.anatomical_structure ,chemistry ,medicine ,Humans ,Thickening ,medicine.symptom ,business ,Tomography, Optical Coherence - Published
- 2021
47. Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias
- Author
-
Marcus Vinicius Cristino de Albuquerque, José Luiz Pedroso, Pedro Braga Neto, and Orlando Graziani Povoas Barsottini
- Subjects
ataxias espinocerebelares ,SCA ,ataxia espinocerebelar do tipo 7 ,antecipação genética ,ataxia de início precoce ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
The spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7) is caused by an abnormal CAG repeat expansion and includes cerebellar signs associated with visual loss and ophthalmoplegia. Marked anticipation and dynamic mutation is observed in SCA7. Moreover, phenotype variability and very early onset of symptoms may occur. In this article, a large series of Brazilian patients with different SCA subtypes was evaluated, and we compared the age of onset of SCA7 with other SCA. From the 26 patients with SCA7, 4 manifested their symptoms before 10-year-old. Also, occasionally the parents may have the onset of symptoms after their children. In conclusion, our study highlights the genetic anticipation phenomenon that occurs in SCA7 families. Patients with very early onset ataxia in the context of a remarkable family history, must be considered and tested for SCA7.
- Published
- 2015
- Full Text
- View/download PDF
48. Spinocerebellar Ataxia Type 5 (SCA5) Mimicking Cerebral Palsy: a Very Early Onset Autosomal Dominant Hereditary Ataxia
- Author
-
Luane Abdalla, Gouvêa, Ivana Rocha, Raslan, Augusto Bragança Reis, Rosa, Thiago Yoshinaga Tonholo, Silva, Rejane Macedo, Campos, Marcelo de Melo, Aragão, Orlando Graziani Povoas, Barsottini, and José Luiz, Pedroso
- Subjects
Neurology ,Neurology (clinical) - Published
- 2022
49. Post-transplant lymphoproliferative disorder myeloradiculopathy
- Author
-
Tácio Luis Cavalcante Coradine, Lucas de Oliveira Cantaruti Guida, Pedro Fraiman, Adrialdo José Santos, José Luiz Pedroso, and Orlando G P Barsottini
- Subjects
Neurology (clinical) ,General Medicine - Abstract
A 56-year-old woman developed progressive subacute lower limb weakness with sensory and autonomic abnormalities. She had received a living-donor kidney transplantation 21 years before for end-stage chronic kidney disease and took mycophenolate mofetil and prednisolone. MR scan of the spinal cord showed bilateral cauda equina gadolinium enhancement and MR scan of the brain showed enhancing nodular hyperintensities in the internal capsule and globus pallidus. Cerebrospinal fluid (CSF) showed a pleocytosis with extremely low glucose, and positive DNA-PCR for Epstein-Barr virus. Her condition worsened despite empirically guided antimicrobial treatment. CSF immunophenotyping later identified mature, clonal B lymphocytes of large size, expressing CD19, CD20, CD200 antigens, and kappa light chain immunoglobulin, with absent CD5 and CD10 expression. We diagnosed a myeloradiculopathy from a monomorphic post-transplant lymphoproliferative disorder. This condition occurs after kidney transplantation and falls on the lymphoma spectrum. We review its clinical features, diagnosis and management.
- Published
- 2023
50. Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective
- Author
-
Wilson Marques, Patrick A. Dion, Fabrício Diniz de Lima, Thiago Mazzo Peluzzo, Maria Thereza Drummond Gama, Marcondes C. França, Orlando Graziani Povoas Barsottini, Guy A. Rouleau, Fulya Akçimen, Luciana Cardoso Bonadia, Alberto R. M. Martinez, Felipe Franco da Graça, and José Luiz Pedroso
- Subjects
Pediatrics ,medicine.medical_specialty ,Neurology ,Ataxia ,business.industry ,Genetic counseling ,05 social sciences ,medicine.disease ,050105 experimental psychology ,03 medical and health sciences ,0302 clinical medicine ,Peripheral neuropathy ,Cohort ,Medicine ,Medical genetics ,0501 psychology and cognitive sciences ,Cerebellar atrophy ,Neurology (clinical) ,medicine.symptom ,business ,030217 neurology & neurosurgery ,Exome sequencing - Abstract
Previous studies using whole exome sequencing (WES) have shown that a significant proportion of adult patients with undiagnosed ataxia in European and North American cohorts have a known genetic cause. Little is known about the diagnostic yield of WES in non-Caucasian ataxic populations. Herein, we used WES to investigate a Brazilian cohort of 76 adult patients with idiopathic ataxia previously screened for trinucleotide expansions in known ataxia genes. We collected clinical and radiological data from each patient. WES was performed following standard procedures. Only variants labeled as pathogenic or likely pathogenic according to American college of medical genetics and genomics (ACMG) criteria were retrieved. We determined the diagnostic yield of WES for the whole cohort and also for subgroups defined according to presence or not of pyramidal signs, peripheral neuropathy, and cerebellar atrophy. There were 41 women and 35 men. Mean age at testing was 48 years. Pyramidal signs, peripheral neuropathy, tremor, and cerebellar atrophy were found in 38.1%, 13.1%, 10.5%, and 68.3% of all subjects, respectively. Diagnostic yield of WES was 35.5%. Thirty-six distinct mutations were found in 20 different genes, determining the diagnosis of 18 autosomal recessive and 9 autosomal dominant ataxias. SACS and SPG7 were the most frequently found underlying genes. WES performed better in the subgroup with vs the subgroup without spasticity (p = 0.005). WES was diagnostic in 35.5% of cases of the Brazilian cohort of ataxia cases. These results have implications for diagnosis, genetic counseling and eventually treatment.
- Published
- 2021
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.