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Abstract Objective: To describe the speech pattern of patients with hereditary Spastic Paraplegia type 4 (SPG4) and correlated it with their clinical data. Methods: Cross-sectional study was carried out in two university hospitals in Brazil. Two groups participated in the study: the case group (n = 28) with a confirmed genetic diagnosis for SPG4 and a control group (n = 17) matched for sex and age. The speech assessment of both groups included: speech task recording, acoustic analysis, and auditory-perceptual analysis. In addition, disease severity was assessed with the Spastic Paraplegia Rating Scale (SPRS). Results: In the auditory-perceptual analysis, 53.5% (n = 15) of individuals with SPG4 were dysarthric, with mild to moderate changes in the subsystems of phonation and articulation. On acoustic analysis, SPG4 subjects’ performances were worse in measurements related to breathing (maximum phonation time) and articulation (speech rate, articulation rate). The articulation variables (speech rate, articulation rate) are related to the age of onset of the first motor symptom. Conclusion: Dysarthria in SPG4 is frequent and mild, and it did not evolve in conjunction with more advanced motor diseases. This data suggest that diagnosed patients should be screened and referred for speech therapy evaluation and those pathophysiological mechanisms of speech involvement may differ from the length-dependent degeneration of the corticospinal tract. Objective SPG (SPG4 Methods Crosssectional Cross sectional Brazil n 28 17 included recording analysis auditoryperceptual auditory perceptual addition SPRS. SPRS . (SPRS) Results 535 53 5 53.5 15 dysarthric subjects maximum time rate rate. symptom Conclusion diseases lengthdependent length dependent tract (SPG 2 1 (SPRS 53.

https://doi.org/10.1016/j.clinsp.2022.100128

Neonatal screening for spinal muscular atrophy: A pilot study in Brazil atrophy
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Oliveira Netto, Alice Brinckmann

; Brusius-Facchin, Ana Carolina

; Lemos, Júlia F.

; Pasetto, Fernanda B.

; Brasil, Carolina S.

; Trapp, Franciele B.

; Saute, Jonas Alex Morales

; Donis, Karina Carvalho

; Becker, Michele Michelin

; Wiest, Paloma

; Coutinho, Vivian L. S.

; Castro, Simone Martins de

; Ferreira, Juliana

; Silveira, Cynthia

; Bittar, Maria Fernanda R.

; Wang, Cristina

; Lana, Janaina M.

; França Junior, Marcondes Cavalcante

; Giugliani, Roberto

Genetics and Molecular Biology

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2023, Volume 46 N. 3 elocation e20230126

Abstract: En | Text: En | PDF: En

Abstract Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births. Testing for SMA has been recommended for inclusion in neonatal screening (NBS) panels since there are several therapies available and there is evidence of greater efficacy when introduced in the pre/early symptomatic phases. In Brazil, the National Neonatal Screening Program tests for six diseases, with a new law issued in 2021 stating that it should incorporate more diseases, including SMA. In the present study, dried blood spot (DBS) samples collected by the Reference Services of Neonatal Screening of RS and SP, to perform the conventional test were also screened for SMA, using real-time PCR, with SALSA MC002 technique. A total of 40,000 samples were analyzed, enabling the identification of four positive cases of SMA, that were confirmed by MLPA. Considering our sampling, Brazil seems to have an incidence comparable to the described in other regions. This work demonstrated that the use of the MC002 technique in samples routinely collected for the conventional NBS program is suitable to screen for SMA in our conditions and can be included in the expansion of the neonatal screening programs. (SMA disorders 10000 10 000 10,00 births (NBS preearly pre early phases diseases 202 study DBS (DBS SP realtime real time PCR MC MC00 40000 40 40,00 analyzed MLPA sampling regions programs 1000 00 10,0 20 MC0 4000 4 40,0 100 0 10, 2 400 40,

https://doi.org/10.1590/1678-4685-gmb-2023-0126

Widening the spectrum of LAMA 2 congenital muscular dystrophy (MDC1A): cobblestone malformation
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Borella, Luiz Fernando Monte

; Pereira, Fernanda Veloso

; Mimura, Paula Maria Preto

; Duarte, Juliana Ávila

; Villarinho, Luciano de Lima

; Rezende, Thiago

; França Junior, Marcondes Cavalcante de

; Reis, Fabiano

Arquivos de Neuro-Psiquiatria

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mar 2022, Volume 80 N. 3 Pages 333 - 334

Abstract: En | Text: En | PDF: En

https://doi.org/10.1590/0004-282x-anp-2021-0292

Functional magnetic resonance imaging and diffusion tensor imaging findings in a patient with ROBO3-related horizontal gaze palsy with progressive scoliosis
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BORBA, Fabrício Castro de

; CAMPOS, Brunno Machado de

; GONÇALVES, João Pedro Nunes

; MARTINS JUNIOR, Carlos Roberto

; FRANÇA JUNIOR, Marcondes Cavalcante

Arquivos de Neuro-Psiquiatria

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dec 2021, Volume 79 N. 12 Pages 1153 - 1154

Abstract: En | Text: En | PDF: En

https://doi.org/10.1590/0004-282x-anp-2021-0213 1 downloads

Nystagmus may be the first neurological sign in early stages of spinocerebellar ataxia type 3
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Gama, Maria Thereza Drumond

; Rezende Filho, Flávio Moura

; Rezende, Thiago Junqueira Ribeiro

; Braga Neto, Pedro

; França Junior, Marcondes Cavalcante

; Pedroso, José Luiz

; Barsottini, Orlando Graziani Povoas

Arquivos de Neuro-Psiquiatria

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oct 2021, Volume 79 N. 10 Pages 891 - 894

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

RESUMO Antecedentes: A ataxia espinocerebelar tipo 3 (SCA3) é a ataxia espinocerebelar de herança autossômica dominante mais comum em todo o mundo. Quase todos os pacientes com SCA3 têm nistagmo e/ou comprometimento das sácades. Objetivo: Investigar a presença de nistagmo como manifestação neurológica precoce, antes do surgimento da ataxia, em alguns pacientes com SCA3 nos primeiros seis meses de doença. Métodos: Foram avaliados 155 pacientes com diagnóstico clínico e molecular de SCA3, entre 2013 e 2020, em relação a sexo, idade, idade de início, duração da doença, expansão da repetição CAG, primeiro sintoma, presença de ataxia, pontuações nas escalas SARA e ICARS, e presença e caracterização de nistagmo. Resultados: Identificamos sete pacientes com SCA3 que apresentavam nistagmo isolado. A idade de início da doença nesses pacientes variou de 24 a 57 anos e a duração da doença variou de quatro a seis meses. Conclusões: O nosso estudo mostrou que o nistagmo pode ser o primeiro sinal neurológico na SCA3. Essa observação clínica reforça a ideia de que o processo neurodegenerativo nos pacientes com SCA3 pode se iniciar nas conexões do sistema vestibular ou no lobo floculonodular. Este estudo adiciona informações relevantes sobre características pré-sintomáticas na SCA3 e que podem servir de base para melhor entendimento da degeneração cerebral e para futuras terapias.

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.

https://doi.org/10.1590/0004-282x-anp-2020-0386 99 downloads

A journey through the history of Neurogenetics
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SILVA, Thiago Yoshinaga Tonholo

; PEDROSO, José Luiz

; FRANÇA JUNIOR, Marcondes Cavalcante

; BARSOTTINI, Orlando Graziani Povoas

Arquivos de Neuro-Psiquiatria

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oct 2021, Volume 79 N. 10 Pages 929 - 932

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

RESUMO Desde o final do século XIX, quando diversas doenças neurológicas hereditárias foram descritas, a associação entre neurologia e hereditariedade foi bem documentada por vários autores na era pré-genética. O termo Neurogenética integra dois campos da ciência e da prática clínica: Neurologia e Genética. A Neurogenética é o campo que estuda a correlação entre o código genético e o desenvolvimento e a função do sistema nervoso, incluindo comportamento, personalidade e doenças neurológicas. Nesta nota histórica, a linha do tempo mostra os principais eventos e pesquisadores desde os primeiros relatos de doenças neurogenéticas até os dias atuais. Recentemente, neurologistas estão se deparando com maior uso de técnicas diagnósticas genéticas na prática clínica; portanto, novos desafios surgem na abordagem diagnóstica, nas considerações éticas e na terapêutica. Este artigo almeja resumir os principais marcos históricos da Neurogenética, desde a era pré-DNA até o presente, e os caminhos futuros desse campo de conhecimento.

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.

https://doi.org/10.1590/0004-282x-anp-2020-0574 167 downloads

Cannabinoids in Neurology - Position paper from Scientific Departments from Brazilian Academy of Neurology
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BRUCKI, Sonia Maria Dozzi

; ADONI, Tarso

; ALMEIDA, Carlos Mauricio Oliveira

; ANDRADE, Daniel Ciampi de

; ANGHINAH, Renato

; BARBOSA, Luciana Mendonça

; BAZAN, Rodrigo

; CARVALHO, Alzira Alves de Siqueira

; CARVALHO, William

; CHRISTO, Paulo Pereira

; COLETTA, Marcus Della

; CONFORTO, Adriana Bastos

; CORREA-NETO, Ylmar

; ENGELHARDT, Eliasz

; FRANÇA JUNIOR, Marcondes Cavalcante

; FRANCO, Clelia

; VON GLEHN, Felipe

; GOMES, Helio Rodrigues

; HOULY, Caroline Gomes de Barros

; KAUP, Alexandre Ottoni

; KOWACS, Fernando

; KANASHIRO, Aline

; LOPES, Victor Gonçalves

; MAIA, Débora

; MANREZA, Maria

; MARTINEZ, Alberto Rolim Muro

; MARTINEZ, Sandra Cristina Gonçalves

; NADER, Saulo Nardy

; NEVES, Luciana de Oliveira

; OKAMOTO, Ivan Hideyo

; OLIVEIRA, Rogério Adas Ayres de

; PEIXOTO, Fabiano de Melo

; PEREIRA, Cristiana Borges

; SABA, Roberta Arb

; SAMPAIO, Leticia Pereira de Brito

; SCHILLING, Lucas Porcello

; SILVA, Marcus Tulius Teixeira

; SILVA, Emanuelle Roberta

; SMID, Jerusa

; SOARES, Cristiane Nascimento

; SOBREIRA-NETO, Manoel

; SOUSA, Nise Alessandra de Carvalho

; SOUZA, Leonardo Cruz de

; TEIVE, Hélio Afonso Ghizoni

; TERRA, Vera Cristina

; VALE, Matheus

; VIEIRA, Vitor Mendes Grise

; ZANOTELI, Edmar

; PRADO, Gilmar

Arquivos de Neuro-Psiquiatria

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apr 2021, Volume 79 N. 4 Pages 354 - 369

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

RESUMO Os canabinoides compreendem os endocanabinoides, fitocanabinoides e os canabinoides sintéticos e desempenham ações no sistema nervoso central e periférico. Uma quantidade enorme de publicações tem sido lançada nos últimos anos, embora a cannabis seja conhecida por milênios. Os Departamentos Científicos da Academia Brasileira de Neurologia descreveram as evidências do uso médico em suas áreas. A literatura está em constantes mudanças e possíveis novas evidências podem surgir nos próximos dias ou meses. A prescrição dessas substâncias deve ser discutida com os pacientes e suas famílias, com conhecimento sobre eventos adversos e sua eficácia.

ABSTRACT Cannabinoids comprehend endocannabinoids, phytocannabinoids, and synthetic cannabinoids, with actions both in the central and peripherical nervous systems. A considerable amount of publications have been made in recent years, although cannabis has been known for over a thousand years. Scientific Departments from the Brazilian Academy of Neurology described evidence for medical use in their areas. Literature is constantly changing, and possible new evidence can emerge in the next days or months. Prescription of these substances must be discussed with patients and their families, with knowledge about adverse events and their efficacy.

https://doi.org/10.1590/0004-282x-anp-2020-0432 1049 downloads

Prevalence of oropharyngeal dysphagia in hereditary spastic paraplegias
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Jacinto-Scudeiro, Laís Alves

; Machado, Gustavo Dariva

; Ayres, Annelise

; Burguêz, Daniela

; Polese-Bonatto, Marcia

; González-Salazar, Carelis

; Siebert, Marina

; França Junior, Marcondes Cavalcante

; Olchik, Maira Rozenfeld

; Saute, Jonas Alex Morales

Arquivos de Neuro-Psiquiatria

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dec 2019, Volume 77 N. 12 Pages 843 - 847

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

RESUMO As paraparesias espásticas hereditárias (PEH) são um grupo de doenças genéticas caracterizado por espasticidade dos membros inferiores com ou sem características neurológicas adicionais. A disfunção da deglutição é pouco estudada nas PEH e sua presença pode levar a complicações respiratórias e nutricionais significativas. Objetivo: O objetivo deste estudo foi avaliar a frequência e a caracterização clínica da disfagia em diferentes tipos de PEH. Métodos: Foi realizado um estudo transversal em dois centros. Os pacientes com PEH confirmados geneticamente foram avaliados pelo Northwestern Dysphagia Patient Check Sheet e pela Escala Funcional de Ingestão Oral. Além disso, a autopercepção da disfagia foi avaliada pelo Eat Assessment Tool-10 e pelo Swallowing Disturbance Questionnaire. Resultados: Trinta e seis pacientes com paraplegia espástica tipo 4 (SPG4), cinco com SPG11, quatro com SPG5, quatro com xantomatose cerebrotendinosa (CTX), três com SPG7 e dois com SPG3A foram avaliados. Disfagia orofaríngea leve a moderada estava presente em 3/5 (60%) dos pacientes com SPG11 e 2/4 (50%) dos pacientes com CTX. Um único SPG4 (2%) e um único SPG7 (33%) apresentaram disfagia orofaríngea leve. Todos os outros pacientes avaliados apresentaram deglutição normal ou funcional. Conclusão: Disfagia orofaríngea clinicamente significativa estava presente apenas nas formas complicadas de PEH. A SPG11 e CTX apresentaram maiores riscos de disfagia, sugerindo que a avaliação da deglutição deve fazer parte do manejo dos pacientes com essas condições.

ABSTRACT Hereditary spastic paraplegias (HSP) are a group of genetic diseases characterized by lower limb spasticity with or without additional neurological features. Swallowing dysfunction is poorly studied in HSP and its presence can lead to significant respiratory and nutritional complications. Objectives: The aim of this study was to evaluate the frequency and clinical characteristics of dysphagia in different types of HSP. Methods: A two-center cross-sectional prevalence study was performed. Genetically confirmed HSP patients were evaluated using the Northwestern Dysphagia Patient Check Sheet and the Functional Oral Intake Scale. In addition, self-perception of dysphagia was assessed by the Eat Assessment Tool-10 and the Swallowing Disturbance Questionnaire. Results: Thirty-six patients with spastic paraplegia type 4 (SPG4), five with SPG11, four with SPG5, four with cerebrotendinous xanthomatosis (CTX), three with SPG7, and two with SPG3A were evaluated. Mild to moderate oropharyngeal dysphagia was present in 3/5 (60%) of SPG11 and 2/4 (50%) of CTX patients. A single SPG4 (2%) and a single SPG7 (33%) patient had mild oropharyngeal dysphagia. All other evaluated patients presented with normal or functional swallowing. Conclusions: Clinically significant oropharyngeal dysphagia was only present in complicated forms of HSP Patients with SPG11 and CTX had the highest risks for dysphagia, suggesting that surveillance of swallowing function should be part of the management of patients with these disorders.

https://doi.org/10.1590/0004-282x20190180 1280 downloads

Ulnar sensory-motor amplitude ratio: a new tool to differentiate ganglionopathy from polyneuropathy
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Garcia, Raphael Ubirajara

; Ricardo, João Adilson Gama

; Horta, Cassiana Abreu

; Garibaldi, Solange Garcia

; Nucci, Anamarli

; França Junior, Marcondes Cavalcante

Arquivos de Neuro-Psiquiatria

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jul 2013, Volume 71 N. 7 Pages 465 - 469

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

O objetivo deste estudo foi avaliar se a razão entre as amplitudes dos potenciais de ação sensitivo (SNAP) e motor (CMAP) do nervo ulnar (USMAR) auxiliaria na distinção entre ganglionopatia (GNP) e polineuropatia (PNP).MétodosRevisamos os estudos de neurocondução e eletromiografia de 18 pacientes com GNP, 33 com PNP diabética e 56 controles. GNP foi definida pela presença simultânea de anormalidades na neurocondução e na ressonância magnética cervical. PNP foi definida por critérios clínicos e neurofisiológicos usuais. Usamos o teste ANOVA com Tukey post-hoc e análise da curva ROC para comparar o SNAP e CMAP ulnares, assim como o USMAR entre os grupos.ResultadosAs amplitudes dos CMAPs ulnares foram similares entre GNP × PNP × Controles (p=0,253), mas as amplitudes dos SNAPs ulnares (1,6±3,2 × 11,9±9,1 × 45,7±24,7) e os valores de USMAR (0,3±0,3 × 1,5±0,9 × 4,6±2,2) foram significativamente diferentes. Um corte de 0,71 para a USMAR foi capaz de diferenciar GNP de PNP (sensibilidade de 94,4% e especificidade de 90,9%).ConclusõesA USMAR é um parâmetro útil e confiável para o diagnóstico diferencial entre GNP e PNP.

The objective of this study was to evaluate if the ratio of ulnar sensory nerve action potential (SNAP) over compound muscle action potential (CMAP) amplitudes (USMAR) would help in the distinction between ganglionopathy (GNP) and polyneuropathy (PNP).MethodsWe reviewed the nerve conductions studies and electromyography (EMG) of 18 GNP patients, 33 diabetic PNP patients and 56 controls. GNP was defined by simultaneous nerve conduction studies (NCS) and magnetic resonance imaging (MRI) abnormalities. PNP was defined by usual clinical and NCS criteria. We used ANOVA with post-hoc Tukey test and ROC curve analysis to compare ulnar SNAP and CMAP, as well as USMAR in the groups.ResultsUlnar CMAP amplitudes were similar between GNP x PNP x Controls (p=0.253), but ulnar SNAP amplitudes (1.6±3.2 x 11.9±9.1 × 45.7±24.7) and USMAR values (0.3±0.3 × 1.5±0.9 × 4.6±2.2) were significantly different. A USMAR threshold of 0.71 was able to differentiate GNP and PNP (94.4% sensitivity and 90.9% specificity).ConclusionsUSMAR is a practical and reliable tool for the differentiation between GNP and PNP.

https://doi.org/10.1590/0004-282X20130063 4060 downloads

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