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1.
Front Neuroanat ; 18: 1362165, 2024.
Article in English | MEDLINE | ID: mdl-39206076

ABSTRACT

Background: The Parkinson's Disease-Cognitive Rating Scale (PD-CRS) is a widely used tool for detecting mild cognitive impairment (MCI) in Parkinson's Disease (PD) patients, however, the neuroanatomical underpinnings of this test's outcomes require clarification. This study aims to: (a) investigate cortical volume (CVol) and cortical thickness (CTh) disparities between PD patients exhibiting mild cognitive impairment (PD-MCI) and those with preserved cognitive abilities (PD-IC); and (b) identify the structural correlates in magnetic resonance imaging (MRI) of overall PD-CRS performance, including its subtest scores, within a non-demented PD cohort. Materials and methods: This study involved 51 PD patients with Hoehn & Yahr stages I-II, categorized into two groups: PD-IC (n = 36) and PD-MCI (n = 15). Cognitive screening evaluations utilized the PD-CRS and the Montreal Cognitive Assessment (MoCA). PD-MCI classification adhered to the Movement Disorder Society Task Force criteria, incorporating extensive neuropsychological assessments. The interrelation between brain morphology and cognitive performance was determined using FreeSurfer. Results: Vertex-wise analysis of the entire brain demonstrated a notable reduction in CVol within a 2,934 mm2 cluster, encompassing parietal and temporal regions, in the PD-MCI group relative to the PD-IC group. Lower PD-CRS total scores correlated with decreased CVol in the middle frontal, superior temporal, inferior parietal, and cingulate cortices. The PD-CRS subtests for Sustained Attention and Clock Drawing were associated with cortical thinning in distinct regions: the Clock Drawing subtest correlated with changes in the parietal lobe, insula, and superior temporal cortex morphology; while the PD-CRS frontal-subcortical scores presented positive correlations with CTh in the transverse temporal, medial orbitofrontal, superior temporal, precuneus, fusiform, and supramarginal regions. Additionally, PD-CRS subtests for Semantic and Alternating verbal fluency were linked to CTh changes in orbitofrontal, temporal, fusiform, insula, and precentral regions. Conclusion: PD-CRS performance mirrors neuroanatomical changes across extensive fronto-temporo-parietal areas, covering both lateral and medial cortical surfaces, in PD patients without dementia. The observed changes in CVol and CTh associated with this cognitive screening tool suggest their potential as surrogate markers for cognitive decline in PD. These findings warrant further exploration and validation in multicenter studies involving independent patient cohorts.

2.
Arq Neuropsiquiatr ; 82(4): 1-9, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38653486

ABSTRACT

The field of neuromodulation has evolved significantly over the past decade. Developments include novel indications and innovations of hardware, software, and stimulation techniques leading to an expansion in scope and role of these techniques as powerful therapeutic interventions. In this review, which is the second part of an effort to document and integrate the basic fundamentals and recent successful developments in the field, we will focus on classic paradigms for electrode placement as well as new exploratory targets, mechanisms of neuromodulation using this technique and new developments, including focused ultrasound driven ablative procedures.


O campo da neuromodulação evoluiu significativamente na última década. Esse progresso inclui novas indicações e inovações de hardware, software e técnicas de estimulação, levando a uma expansão das áreas clínicas cobertas e no papel dessas técnicas como intervenções terapêuticas eficazes. Nesta revisão, que é a segunda parte de um esforço para documentar e integrar os fundamentos básicos e os desenvolvimentos recentes e bem-sucedidos no campo, vamos nos concentrar em paradigmas clássicos para colocação de eletrodos, bem como em novos alvos exploratórios, mecanismos de neuromodulação usados por esta técnica e novos desenvolvimentos, incluindo procedimentos ablativos orientados por ultrassom focalizado.


Subject(s)
Deep Brain Stimulation , Parkinson Disease , Deep Brain Stimulation/methods , Humans , Parkinson Disease/therapy , Electrodes, Implanted
3.
Arq Neuropsiquiatr ; 82(4): 1-9, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38653485

ABSTRACT

Deep brain stimulation (DBS) is recognized as an established therapy for Parkinson's disease (PD) and other movement disorders in the light of the developments seen over the past three decades. Long-term efficacy is established for PD with documented improvement in the cardinal motor symptoms of PD and levodopa-induced complications, such as motor fluctuations and dyskinesias. Timing of patient selection is crucial to obtain optimal benefits from DBS therapy, before PD complications become irreversible. The objective of this first part review is to examine the fundamental concepts of DBS for PD in clinical practice, discussing the historical aspects, patient selection, potential effects of DBS on motor and non-motor symptoms, and the practical management of patients after surgery.


Nas últimas três décadas, a estimulação cerebral profunda (ECP) se tornou um tratamento bem estabelecido para doença de Parkinson (DP) e outros transtornos do movimento. A eficácia a longo prazo na DP foi bem documentada para a melhora dos sintomas motores cardinais da DP e das complicações induzidas pelo uso do levodopa, como as flutuações motoras e as discinesias. O momento da seleção do paciente é crucial para se obter os benefícios ideais da ECP, antes que as complicações da DP se tornem irreversíveis. O objetivo desta primeira parte da revisão é examinar os conceitos fundamentais da ECP na prática clínica, discutindo os aspectos históricos, a seleção de pacientes, os potenciais efeitos da ECP nos sintomas motores e não motores da doença e o manejo prático dos pacientes após a cirurgia.


Subject(s)
Deep Brain Stimulation , Parkinson Disease , Humans , Deep Brain Stimulation/methods , Parkinson Disease/therapy , Patient Selection , Treatment Outcome
4.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;82(4): s00441786026, 2024.
Article in English | LILACS-Express | LILACS | ID: biblio-1557139

ABSTRACT

Abstract Deep brain stimulation (DBS) is recognized as an established therapy for Parkinson's disease (PD) and other movement disorders in the light of the developments seen over the past three decades. Long-term efficacy is established for PD with documented improvement in the cardinal motor symptoms of PD and levodopa-induced complications, such as motor fluctuations and dyskinesias. Timing of patient selection is crucial to obtain optimal benefits from DBS therapy, before PD complications become irreversible. The objective of this first part review is to examine the fundamental concepts of DBS for PD in clinical practice, discussing the historical aspects, patient selection, potential effects of DBS on motor and non-motor symptoms, and the practical management of patients after surgery.


Resumo Nas últimas três décadas, a estimulação cerebral profunda (ECP) se tornou um tratamento bem estabelecido para doença de Parkinson (DP) e outros transtornos do movimento. A eficácia a longo prazo na DP foi bem documentada para a melhora dos sintomas motores cardinais da DP e das complicações induzidas pelo uso do levodopa, como as flutuações motoras e as discinesias. O momento da seleção do paciente é crucial para se obter os benefícios ideais da ECP, antes que as complicações da DP se tornem irreversíveis. O objetivo desta primeira parte da revisão é examinar os conceitos fundamentais da ECP na prática clínica, discutindo os aspectos históricos, a seleção de pacientes, os potenciais efeitos da ECP nos sintomas motores e não motores da doença e o manejo prático dos pacientes após a cirurgia.

5.
Arq Neuropsiquiatr ; 80(7): 759-762, 2022 07.
Article in English | MEDLINE | ID: mdl-36254448

ABSTRACT

To celebrate the 400th anniversary of the birth of Thomas Willis, his main contributions to the development of neurosciences, in particular neurology, are presented. Willis coined the term neurology and contributed significantly to the field of neuroanatomy, with the description of the arterial circle-located at the base of the brain-, which bears his name. He also described the striatum and cranial nerves. Furthermore, as a clinical neurologist, Willis participated in the description of various diseases, including myasthenia gravis and restless legs syndrome.


Na comemoração dos 400 anos de nascimento de Thomas Willis, são apresentadas as suas principais contribuições para o desenvolvimento das neurociências, em particular a neurologia. Willis cunhou o termo neurologia, contribuiu significativamente na área de neuroanatomia, com a descrição do círculo arterial localizado na base do cérebro, que tem o seu nome, além da descrição do corpo estriado, e de nervos cranianos. Da mesma forma, como neurologista clínico, Willis participou da descrição de várias doenças como a miastenia gravis e da síndrome das pernas inquietas, entre outras doenças.


Subject(s)
Neurology , Neurosciences , Anniversaries and Special Events , Brain , Circle of Willis , History, 17th Century , Humans , Neuroanatomy/history , Neurology/history , Neurosciences/history
6.
Arq Neuropsiquiatr ; 80(5 Suppl 1): 105-115, 2022 05.
Article in English | MEDLINE | ID: mdl-35976323

ABSTRACT

For more than 30 years, Deep Brain Stimulation (DBS) has been a therapeutic option for Parkinson's disease (PD) treatment. However, this therapy is still underutilized mainly due to misinformation regarding risks and clinical outcomes. DBS can ameliorate several motor and non-motor symptoms, improving patients' quality of life. Furthermore, most of the improvement after DBS is long-lasting and present even in advanced PD. Adequate patient selection, precise electric leads placement, and correct DBS programming are paramount for good surgical outcomes. Nonetheless, DBS still has many limitations: axial symptoms and signs, such as speech, balance and gait, do not improve to the same extent as appendicular symptoms and can even be worsened as a direct or indirect consequence of surgery and stimulation. In addition, there are still unanswered questions regarding patient's selection, surgical planning and programming techniques, such as the role of surgicogenomics, more precise imaging-based lead placement, new brain targets, advanced programming strategies and hardware features. The net effect of these innovations should not only be to refine the beneficial effect we currently observe on selected symptoms and signs but also to improve treatment resistant facets of PD, such as axial and non-motor features. In this review, we discuss the current state of the art regarding DBS selection, implant, and programming, and explore new advances in the DBS field.


Subject(s)
Deep Brain Stimulation , Parkinson Disease , Deep Brain Stimulation/methods , Humans , Parkinson Disease/drug therapy , Quality of Life , Treatment Outcome
7.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;80(7): 759-762, July 2022. graf
Article in English | LILACS-Express | LILACS | ID: biblio-1403522

ABSTRACT

Abstract To celebrate the 400th anniversary of the birth of Thomas Willis, his main contributions to the development of neurosciences, in particular neurology, are presented. Willis coined the term neurology and contributed significantly to the field of neuroanatomy, with the description of the arterial circle—located at the base of the brain—, which bears his name. He also described the striatum and cranial nerves. Furthermore, as a clinical neurologist, Willis participated in the description of various diseases, including myasthenia gravis and restless legs syndrome.


Resumo Na comemoração dos 400 anos de nascimento de Thomas Willis, são apresentadas as suas principais contribuições para o desenvolvimento das neurociências, em particular a neurologia. Willis cunhou o termo neurologia, contribuiu significativamente na área de neuroanatomia, com a descrição do círculo arterial localizado na base do cérebro, que tem o seu nome, além da descrição do corpo estriado, e de nervos cranianos. Da mesma forma, como neurologista clínico, Willis participou da descrição de várias doenças como a miastenia gravis e da síndrome das pernas inquietas, entre outras doenças.

8.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;80(5,supl.1): 105-115, May 2022. graf
Article in English | LILACS-Express | LILACS | ID: biblio-1393940

ABSTRACT

ABSTRACT For more than 30 years, Deep Brain Stimulation (DBS) has been a therapeutic option for Parkinson's disease (PD) treatment. However, this therapy is still underutilized mainly due to misinformation regarding risks and clinical outcomes. DBS can ameliorate several motor and non-motor symptoms, improving patients' quality of life. Furthermore, most of the improvement after DBS is long-lasting and present even in advanced PD. Adequate patient selection, precise electric leads placement, and correct DBS programming are paramount for good surgical outcomes. Nonetheless, DBS still has many limitations: axial symptoms and signs, such as speech, balance and gait, do not improve to the same extent as appendicular symptoms and can even be worsened as a direct or indirect consequence of surgery and stimulation. In addition, there are still unanswered questions regarding patient's selection, surgical planning and programming techniques, such as the role of surgicogenomics, more precise imaging-based lead placement, new brain targets, advanced programming strategies and hardware features. The net effect of these innovations should not only be to refine the beneficial effect we currently observe on selected symptoms and signs but also to improve treatment resistant facets of PD, such as axial and non-motor features. In this review, we discuss the current state of the art regarding DBS selection, implant, and programming, and explore new advances in the DBS field.


RESUMO Há mais de 30 anos, a Estimulação Cerebral Profunda (ECP) é uma opção de tratamento para pessoas com doença de Parkinson (DP). Apesar disso, a ECP ainda é subutilizada, em grande parte por desinformação acerca dos riscos e dos benefícios desse tratamento. A ECP melhora os sintomas motores e não motores da DP, melhorando, assim, a qualidade de vida dos pacientes. Grande parte dos benefícios gerados pela ECP têm longa duração, estando presentes até mesmo em fases avançadas da doença. A seleção adequada dos pacientes, o preciso posicionamento dos eletrodos cerebrais, e a programação correta da ECP são fundamentais para que haja benefício após a cirurgia. Todavia, existem ainda muitas limitações em relação ao tratamento com ECP. Sintomas axiais, como fala e marcha, não melhoram tanto quanto os sintomas apendiculares, e podem até mesmo piorar após a cirurgia. Existem muitas dúvidas relacionadas à seleção de pacientes, especialmente nos aspectos de imagem e genética. Em relação à questão cirúrgica, novas técnicas de imagem podem auxiliar o posicionamento correto dos eletrodos cerebrais. Novas estratégias de programação e avanços de hardware podem melhorar desfechos que ainda são limitados. A fim de melhorar sintomas resistentes à ECP, como cognição e marcha, novos alvos cerebrais estão sendo explorados. Na presente revisão, discutimos o atual estado da arte relacionado à ECP, abordando seleção de pacientes, implante cirúrgico de eletrodos, e programação do dispositivo, além de explorarmos novos avanços em desenvolvimento.

9.
Arq Neuropsiquiatr ; 80(2): 137-144, 2022 02.
Article in English | MEDLINE | ID: mdl-35352753

ABSTRACT

BACKGROUND: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by deterioration of balance and functionality that tends to follow disease progression. There is no established link between formal clinical markers for severity and functional/balance scores that could guide rehabilitation teams. OBJECTIVE: To evaluate the relationship between functional scales and ataxia severity in order to identify cutoff landmarks for functional loss and estimate the mean SARA (Scale for Assessment and Rating of Ataxia) score for the risk ratings for falls on the BBS (Berg Balance Scale). METHODS: Consecutive patients with a molecular diagnosis of SCA (total 89: 31 with SCA2 and 58 with SCA3) were assessed for functionality FIM-ADL (Functional Independence Measure-activities of daily living and Lawton-IADL (instrumental activities of daily living), balance (BBS) and disease severity (SARA). RESULTS: The main disability cutoff landmarks were that the need for supervision for FIM-ADL starts with 12 points on SARA and the need for supervision for Lawton-IADL starts with 14 points on SARA. The first items to require assistance were "expression" and "shopping", respectively. At 20 points on SARA, patients were dependent on all FIM and Lawton items. The item with the greatest impact on distinguishing dependents from independents was "means of transport" in Lawton-IADL and the domain "locomotion" in FIM-ADL. The mean SARA score for patients classified as low risk in the BBS was 9.9 points, and it was 17.4 for medium risk and 25.2 for high risk. CONCLUSIONS: Analysis on the correlation between the severity of ataxia and functional scales can form an important guide for understanding the progression of functional dependence among individuals with SCAs.


Subject(s)
Activities of Daily Living , Spinocerebellar Ataxias , Humans , Severity of Illness Index
10.
Radiol Bras ; 55(1): 31-37, 2022.
Article in English | MEDLINE | ID: mdl-35210662

ABSTRACT

Moyamoya disease is a chronic occlusive cerebrovascular disease that is non-inflammatory and non-atherosclerotic. It is characterized by endothelial hyperplasia and fibrosis of the intracranial portion of the carotid artery and its proximal branches, leading to progressive stenosis and occlusion, often clinically manifesting as ischemic or hemorrhagic stroke with high rates of morbidity and mortality. On cerebral angiography, the formation of collateral vessels has the appearance of a puff of smoke (moyamoya in Japanese), which became more conspicuous with the refinement of modern imaging techniques. When there is associated disease, it is known as moyamoya syndrome. Treatments are currently limited, although surgical revascularization may prevent ischemic events and preserve quality of life. In this review, we summarize recent advances in moyamoya disease, covering aspects of epidemiology, etiology, presentation, imaging, and treatment strategies.


A doença de moyamoya, ou doença cerebrovascular oclusiva crônica, é uma afecção não inflamatória e não aterosclerótica, caracterizada por hiperplasia endotelial e fibrose dos segmentos intracranianos das artérias carótidas internas e da porção proximal de seus ramos. Isso provoca estenose progressiva e oclusão, frequentemente manifestada clinicamente como isquemia cerebral ou hemorragia intracraniana, com alta morbimortalidade. A formação compensatória de vasos colaterais produz, na angiografia encefálica, um aspecto de nuvem de fumaça (moyamoya, em japonês). Quando existe doença subjacente que possa estar relacionada, a doença recebe o nome de síndrome de moyamoya. Embora a incidência esteja aumentando graças aos novos métodos diagnósticos, as estratégias terapêuticas ainda são limitadas. O diagnóstico precoce permite cirurgias de revascularização cerebral que podem evitar novos acidentes vasculares e melhorar a qualidade de vida. Nesta revisão são apresentados os avanços recentes sobre a doença de moyamoya, citando aspectos de epidemiologia, etiologia, apresentação, exames diagnósticos e tratamento.

11.
Radiol. bras ; Radiol. bras;55(1): 31-37, Jan.-Feb. 2022. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1360664

ABSTRACT

Abstract Moyamoya disease is a chronic occlusive cerebrovascular disease that is non-inflammatory and non-atherosclerotic. It is characterized by endothelial hyperplasia and fibrosis of the intracranial portion of the carotid artery and its proximal branches, leading to progressive stenosis and occlusion, often clinically manifesting as ischemic or hemorrhagic stroke with high rates of morbidity and mortality. On cerebral angiography, the formation of collateral vessels has the appearance of a puff of smoke (moyamoya in Japanese), which became more conspicuous with the refinement of modern imaging techniques. When there is associated disease, it is known as moyamoya syndrome. Treatments are currently limited, although surgical revascularization may prevent ischemic events and preserve quality of life. In this review, we summarize recent advances in moyamoya disease, covering aspects of epidemiology, etiology, presentation, imaging, and treatment strategies.


RESUMO A doença de moyamoya, ou doença cerebrovascular oclusiva crônica, é uma afecção não inflamatória e não aterosclerótica, caracterizada por hiperplasia endotelial e fibrose dos segmentos intracranianos das artérias carótidas internas e da porção proximal de seus ramos. Isso provoca estenose progressiva e oclusão, frequentemente manifestada clinicamente como isquemia cerebral ou hemorragia intracraniana, com alta morbimortalidade. A formação compensatória de vasos colaterais produz, na angiografia encefálica, um aspecto de nuvem de fumaça (moyamoya, em japonês). Quando existe doença subjacente que possa estar relacionada, a doença recebe o nome de síndrome de moyamoya. Embora a incidência esteja aumentando graças aos novos métodos diagnósticos, as estratégias terapêuticas ainda são limitadas. O diagnóstico precoce permite cirurgias de revascularização cerebral que podem evitar novos acidentes vasculares e melhorar a qualidade de vida. Nesta revisão são apresentados os avanços recentes sobre a doença de moyamoya, citando aspectos de epidemiologia, etiologia, apresentação, exames diagnósticos e tratamento.

12.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;80(2): 137-144, Feb. 2022. tab, graf
Article in English | LILACS | ID: biblio-1364372

ABSTRACT

ABSTRACT Background: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by deterioration of balance and functionality that tends to follow disease progression. There is no established link between formal clinical markers for severity and functional/balance scores that could guide rehabilitation teams. Objective: To evaluate the relationship between functional scales and ataxia severity in order to identify cutoff landmarks for functional loss and estimate the mean SARA (Scale for Assessment and Rating of Ataxia) score for the risk ratings for falls on the BBS (Berg Balance Scale). Methods: Consecutive patients with a molecular diagnosis of SCA (total 89: 31 with SCA2 and 58 with SCA3) were assessed for functionality FIM-ADL (Functional Independence Measure-activities of daily living and Lawton-IADL (instrumental activities of daily living), balance (BBS) and disease severity (SARA). Results: The main disability cutoff landmarks were that the need for supervision for FIM-ADL starts with 12 points on SARA and the need for supervision for Lawton-IADL starts with 14 points on SARA. The first items to require assistance were "expression" and "shopping", respectively. At 20 points on SARA, patients were dependent on all FIM and Lawton items. The item with the greatest impact on distinguishing dependents from independents was "means of transport" in Lawton-IADL and the domain "locomotion" in FIM-ADL. The mean SARA score for patients classified as low risk in the BBS was 9.9 points, and it was 17.4 for medium risk and 25.2 for high risk. Conclusions: Analysis on the correlation between the severity of ataxia and functional scales can form an important guide for understanding the progression of functional dependence among individuals with SCAs.


RESUMO Antecedentes: As ataxias espinocerebelares (SCA) são um grupo de doenças neurodegenerativas caracterizadas pela deterioração do equilíbrio e da funcionalidade, que tende a acompanhar a progressão da doença. Não existe uma ligação estabelecida entre os marcadores clínicos formais de gravidade e escores funcionais e de equilíbrio que possam orientar as equipes de reabilitação. Objetivo: Avaliar a relação entre escalas funcionais e de gravidade da ataxia, buscando identificar pontos de corte para a perda funcional relacionados aos escores de gravidade e aos patamares de Risco de Quedas. Métodos: Uma amostra consecutiva de 89 pacientes com diagnóstico molecular de SCA (31-SCA2 e 58-SCA3) foram avaliados para funcionalidade MIF-AVDs (Medida de independência funcional-Atividades da vida diária) e Lawton-AIVDs (Atividades instrumentais da vida diária), equilíbrio (EEB-escala de Equilíbrio de Berg), e gravidade da ataxia (SARA-escala para avaliação e graduação de ataxia). Resultados: Os principais pontos de corte de deficiência foram: com 12 pontos no SARA começa a necessidade de supervisão para MIF-AVDs e com 14 pontos no SARA começa a necessidade de supervisão para Lawton-AIVDs. Os primeiros itens a necessitar de assistência foram "expressão" e "compras", respectivamente. Com 20 pontos no SARA os pacientes eram dependentes em todos os itens MIF/LAWTON. O item com maior impacto na discriminação entre dependentes e independentes foi "meio de transporte" na Lawton e o domínio "locomoção" na MIF. O escore médio no SARA foi de 9,9 pontos para pacientes classificados com baixo risco na EEB, 17,4 para médio risco e 25,2 para alto risco. Conclusões: A análise da correlação entre a gravidade da ataxia e as escalas funcionais pode ser um importante guia no entendimento da progressão da dependência funcional em indivíduos com SCA.


Subject(s)
Humans , Activities of Daily Living , Spinocerebellar Ataxias , Severity of Illness Index
13.
Cerebellum ; 21(6): 1073-1084, 2022 Dec.
Article in English | MEDLINE | ID: mdl-34782953

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.


Subject(s)
Intellectual Disability , Optic Atrophy , Spastic Paraplegia, Hereditary , Spinocerebellar Ataxias , Humans , Muscle Spasticity/diagnostic imaging , Muscle Spasticity/genetics , Spinocerebellar Ataxias/diagnostic imaging , Spinocerebellar Ataxias/genetics , Optic Atrophy/genetics , Intellectual Disability/genetics , Spastic Paraplegia, Hereditary/genetics , Syndrome , Mutation
15.
Acta Neurol Scand ; 143(4): 458-463, 2021 Apr.
Article in English | MEDLINE | ID: mdl-33251611

ABSTRACT

OBJECTIVES: Limitations of functional capacity and balance are common features of the natural history of spinocerebellar ataxias (SCA). However, their onset and progression patterns differ according to subtype. The aim of our study was to compare physical functionality and balance parameters in SCA10 and SCA3 patients, correlating with clinical variables. MATERIALS & METHODS: Cross-sectional study evaluating ninety-five SCA patients (60 with SCA3 and 35 with SCA10) with validated scales for functional independence, balance and the severity of signs and symptoms. RESULTS: The groups were similar in terms of age and gender, and results were adjusted for age at symptom onset. The SCA10 patients had better results for balance and functional independence (p < 0.007). They also had lower scores for disease severity (p < 0.0002) and the subitems gait (p < 0.0005), posture (p < 0.0021) and sitting balance (p < 0.0008). Symptom progression in both groups was similar for patients with a disease duration of up to ten years, but there was a more marked decline in SCA3 patients after this period. CONCLUSIONS: We have shown that disease progression as assessed by balance and physical functioning is slower in SCA10 patients than SCA3 patients, particularly after 10 years of disease. These findings are important as they can help to characterize the disease, assisting in the development of new therapies and rehabilitation programs.


Subject(s)
Disease Progression , Physical Functional Performance , Postural Balance/physiology , Spinocerebellar Ataxias/diagnosis , Spinocerebellar Ataxias/physiopathology , Adult , Cross-Sectional Studies , DNA Repeat Expansion/genetics , Female , Humans , Male , Middle Aged , Prospective Studies , Severity of Illness Index , Spinocerebellar Ataxias/genetics
16.
Arq Neuropsiquiatr ; 78(12): 811-814, 2020 12.
Article in English | MEDLINE | ID: mdl-33331516

ABSTRACT

The authors review the role of Jules Bernard Luys in the discovery of the subthalamic nucleus (STN) over 150 years ago. The relationships between the STN and movement disorders, particularly hemiballismus and Parkinson's disease, are well known. The academic life of Jules Bernard Luys can be divided into two periods: a brilliant start as a neuroanatomist, culminating in the discovery of the STN, followed by a second period marked by a shift in his academic activity and an increased interest in topics such as hysteria, hypnotism and, eventually, esotericism.


Subject(s)
Deep Brain Stimulation , Dyskinesias , Hypnosis , Parkinson Disease , Subthalamic Nucleus , Humans , Hysteria , Parkinson Disease/therapy
17.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;78(12): 811-814, Dec. 2020. graf
Article in English | LILACS | ID: biblio-1142371

ABSTRACT

ABSTRACT The authors review the role of Jules Bernard Luys in the discovery of the subthalamic nucleus (STN) over 150 years ago. The relationships between the STN and movement disorders, particularly hemiballismus and Parkinson's disease, are well known. The academic life of Jules Bernard Luys can be divided into two periods: a brilliant start as a neuroanatomist, culminating in the discovery of the STN, followed by a second period marked by a shift in his academic activity and an increased interest in topics such as hysteria, hypnotism and, eventually, esotericism.


RESUMO Os autores revisam o papel de Jules Bernard Luys na descoberta do núcleo subtalâmico (NST) há mais de 150 anos. As relações da NST com distúrbios do movimento, em particular o hemibalismo e a doença de Parkinson, são bem conhecidas. A vida acadêmica de Jules Bernard Luys pode ser dividida em duas fases: a primeira, um brilhante começo de sua carreira como neuroanatomista, culminando na descoberta do NST, seguido por um segundo período marcado por uma mudança em sua atividade acadêmica, e maior interesse em tópicos como histeria, hipnotismo e finalmente esoterismo.


Subject(s)
Humans , Parkinson Disease/therapy , Subthalamic Nucleus , Dyskinesias , Deep Brain Stimulation , Hypnosis , Hysteria
20.
Arq Neuropsiquiatr ; 78(5): 290-300, 2020 05.
Article in English | MEDLINE | ID: mdl-32490966

ABSTRACT

BACKGROUND: As the COVID-19 pandemic unfolds worldwide, different forms of reports have described its neurologic manifestations. OBJECTIVE: To review the literature on neurological complications of SARS-CoV-2 infection. METHODS: Literature search performed following systematic reviews guidelines, using specific keywords based on the COVID-19 neurological complications described up to May 10th, 2020. RESULTS: A total of 43 articles were selected, including data ranging from common, non-specific symptoms, such as hyposmia and myalgia, to more complex and life-threatening conditions, such as cerebrovascular diseases, encephalopathies, and Guillain-Barré syndrome. CONCLUSION: Recognition of neurological manifestations of SARS-CoV-2 should be emphasized despite the obvious challenges faced by clinicians caring for critical patients who are often sedated and presenting other concurrent systemic complications.


Subject(s)
Coronavirus Infections/complications , Nervous System Diseases/complications , Pneumonia, Viral/complications , Ageusia/complications , Brain Diseases/complications , COVID-19 , Cerebrovascular Disorders/complications , Cerebrovascular Disorders/physiopathology , Guillain-Barre Syndrome/complications , Humans , Myalgia/complications , Nervous System Diseases/physiopathology , Olfaction Disorders/complications , Pandemics
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