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au:SCOLA, ROSANA H.

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Lambert-Eaton myasthenic syndrome: the 60th anniversary of Eaton and Lambert's pioneering article
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Lorenzoni, Paulo José

; Kay, Cláudia Suemi Kamoi

; Werneck, Lineu Cesar

; Scola, Rosana Herminia

Arquivos de Neuro-Psiquiatria

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feb 2018, Volume 76 N. 2 Pages 124 - 126

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

RESUMO Essa revisão histórica enfatiza a contribuição do Dr Lee M Eaton e do Dr Edward H. Lambert para o diagnóstico da síndrome miastênica no 60o aniversário do seu artigo pioneiro (JAMA 1957) para essa doença. Existem importantes marcos no artigo de Eaton e Lambert, como uma desordem da junção neuromuscular associada à neoplasia torácica e critério diagnóstico para síndrome miastênica de Lambert-Eaton (LEMS). Após 60 anos, os principais critérios diagnósticos descritos para LEMS no artigo pioneiro de Eaton e Lambert continuam úteis no diagnóstico da LEMS.

ABSTRACT This historical review describes the contribution of Drs. Lee M. Eaton and Edward H. Lambert to the diagnosis of myasthenic syndrome on the 60th anniversary of their pioneering article (JAMA 1957) on the disease. There are important landmarks in their article on a disorder of the neuromuscular junction associated with thoracic neoplasm and the electrophysiological criteria for Lambert-Eaton myasthenic syndrome (LEMS). After 60 years, the main electrophysiological criteria described in Eaton and Lambert's pioneering article are still currently useful in the diagnosis of LEMS.

https://doi.org/10.1590/0004-282x20170194 1741 downloads

Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives
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Araujo, Alexandra P. Q. C.

; Carvalho, Alzira A. S. de

; Cavalcanti, Eduardo B. U.

; Saute, Jonas Alex M.

; Carvalho, Elmano

; França Junior, Marcondes C.

; Martinez, Alberto R. M.

; Navarro, Monica de M. M.

; Nucci, Anamarli

; Resende, Maria Bernadete D. de

; Gonçalves, Marcus Vinicius M.

; Gurgel-Giannetti, Juliana

; Scola, Rosana H.

; Sobreira, Cláudia F. da R.

; Reed, Umbertina C.

; Zanoteli, Edmar

Arquivos de Neuro-Psiquiatria

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aug 2017, Volume 75 N. 8 Pages 104 - 113

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

RESUMO Avanços na compreensão e no manejo da distrofia muscular de Duchenne (DMD) ocorreram desde a publicação de diretrizes internacionais em 2010. Nosso objetivo foi elaborar um consenso nacional baseado em evidências de cuidado multidisciplinar dos pacientes com DMD no Brasil. Utilizamos a técnica de Delphi combinada com revisão sistemática da literatura de 2010 a 2016 classificando níveis de evidência e graus de recomendação. Nossas recomendações foram divididas em duas partes. Apresentamos aqui a parte 1, descrevendo a metodologia utilizada e conceitos gerais da doença, e fornecemos recomendações sobre diagnóstico, tratamento com corticosteroides e novas perspectivas de tratamentos medicamentosos. As principais recomendações: 1) testes genéticos deveriam ser a primeira linha para confirmação de casos suspeitos; 2) pacientes com diagnóstico de DMD devem receber corticosteroides; 3) por enquanto, a falta de publicações de resultados dos ensaios clínicos de fase 3, dificulta recomendações de uso medicamentos que “saltam exons” ou “passam” por código de parada prematura.

ABSTRACT Significant advances in the understanding and management of Duchenne muscular dystrophy (DMD) took place since international guidelines were published in 2010. Our objective was to provide an evidence-based national consensus statement for multidisciplinary care of DMD in Brazil. A combination of the Delphi technique with a systematic review of studies from 2010 to 2016 was employed to classify evidence levels and grade of recommendations. Our recommendations were divided in two parts. We present Part 1 here, where we describe the guideline methodology and overall disease concepts, and also provide recommendations on diagnosis, steroid therapy and new drug treatment perspectives for DMD. The main recommendations: 1) genetic testing in diagnostic suspicious cases should be the first line for diagnostic confirmation; 2) patients diagnosed with DMD should have steroids prescribed; 3) lack of published results for phase 3 clinical trials hinders, for now, the recommendation to use exon skipping or read-through agents.

https://doi.org/10.1590/0004-282x20170112 10268 downloads

Psychogenic movement disorders: an unusual presentation in childhood with improvement after placebo test
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Scola, Rosana H.

; Lorenzoni, Paulo J.

; Kay, Cláudia S. K.

; Teive, Hélio A. G.

; Bruck, Isac

; Werneck, Lineu C.

Arquivos de Neuro-Psiquiatria

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sep 2014, Volume 72 N. 9 Pages 738 - 739

Abstract: En | Text: En | PDF: En

https://doi.org/10.1590/0004-282X20140087 1272 downloads

Niemann-Pick disease type C: a case series of Brazilian patients
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Lorenzoni, Paulo José

; Cardoso, Elaine

; Crippa, Ana C. S.

; Lourenço, Charles Marques

; Souza, Fernanda Timm Seabra

; Giugliani, Roberto

; Saraiva-Pereira, Maria Luiza

; Raskin, Salmo

; Bruck, Isac

; Kay, Cláudia S. K.

; Scola, Rosana H.

; C.Werneck, Lineu

; Teive, Hélio A. G.

Arquivos de Neuro-Psiquiatria

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mar 2014, Volume 72 N. 3 Pages 214 - 218

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

O objetivo desse estudo foi analisar uma série de casos de pacientes brasileiros com doença de Niemann-Pick tipo C (NP-C). Método Correlação entre manifestações clínicas, alterações laboratoriais, estudo molecular e resposta ao tratamento foram realizadas. Resultado A amostra consiste de 5 pacientes com idade entre 8 e 26 anos. Paralisia do olhar vertical supranuclear, ataxia cerebelar, demência, distonia e disartria estavam presentes em todos os casos. Coloração de filipina na cultura de fibroblastos mostrou padrão “clássico” em dois pacientes e padrão “variante” em três casos. O estudo molecular encontrou mutações no gene NPC1 em todos os alelos. O tratamento com miglustate foi realizado em 4 pacientes. Conclusão Embora coloração de filipina seja utilizada para confirmar o diagnóstico, o histiócito azul-marinho no aspirado de medula óssea frequentemente auxilia a confirmar o diagnóstico de NP-C. A mutação p.P1007A está correlacionada com o padrão “ variante” na coloração de filipina. A resposta ao tratamento com miglustate parece estar correlacionada com a idade e escore de desabilidade no momento do diagnóstico.

The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). Method Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented. Result The sample consisted of 5 patients aged 8 to 26 years. Vertical supranuclear gaze palsy, cerebellar ataxia, dementia, dystonia and dysarthria were present in all cases. Filipin staining showed the “classical” pattern in two patients and a “variant” pattern in three patients. Molecular analysis found mutations in the NPC1 gene in all alleles. Miglustat treatment was administered to 4 patients. Conclusion Although filipin staining should be used to confirm the diagnosis, bone marrow sea-blue histiocytes often help to diagnosis of NP-C. The p.P1007A mutation seems to be correlated with the “variant” pattern in filipin staining. Miglustat treatment response seems to be correlated with the age at disease onset and disability scale score at diagnosis.

https://doi.org/10.1590/0004-282X20130249 7066 downloads

Brainstem reversible leukoencephalopathy syndrome
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Braatz, Vera L.

; Lorenzoni, Paulo José

; Kay, Cláudia S. K.

; Chula, Domingos C.

; Scola, Rosana H.

; Werneck, Lineu C.

Arquivos de Neuro-Psiquiatria

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jan 2014, Volume 72 N. 1 Pages 83 - 84

Abstract: En | Text: En | PDF: En

https://doi.org/10.1590/0004-282X20130206 1898 downloads

Fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography imaging in the investigation of LambertEaton myasthenic syndrome
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Braatz, Vera L.

; Kay, Claudia S. K.

; Lorenzoni, Paulo J.

; Ludwig, Vinicius B.

; Junior, Milton M. Machota

; Ioshii, Sergio O.

; Scola, Rosana H.

; Werneck, Lineu C.

Arquivos de Neuro-Psiquiatria

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sep 2013, Volume 71 N. 9A Pages 643 - 644

Abstract: En | Text: En | PDF: En

https://doi.org/10.1590/0004-282X20130110 1540 downloads

Neurological disorders associated with glutamic acid decarboxylase antibodies: a Brazilian series
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Fernandes, Maurício

; Munhoz, Renato P.

; Carrilho, Paulo Eduardo Mestrinelli

; Arruda, Walter O.

; Lorenzoni, Paulo J.

; Scola, Rosana H.

; Werneck, Lineu César

; Teive, Hélio A. G.

Arquivos de Neuro-Psiquiatria

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sep 2012, Volume 70 N. 9 Pages 657 - 661

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

Distúrbios neurológicos associados com anticorpos anti-GAD são doenças pleomórficas, raras, de causa incerta, das quais a rigidez muscular espasmódica (SPR) é a mais conhecida. Neste estudo, descrevemos nove casos consecutivos de distúrbios neurológicos associados com a presença de anticorpos anti-GAD, incluindo nove pacientes com SPR e três casos com ataxia cerebelar. Adicionalmente, foram encontrados quatro casos com hipotireoidismo, três com epilepsia, dois com diabetes mellitus e dois casos com mioclonia axial.

Neurological disorders associated with glutamic acid decarboxylase (GAD) antibodies are rare pleomorphic diseases of uncertain cause, of which stiff-person syndrome (SPS) is the best-known. Here, we described nine consecutive cases of neurological disorders associated with anti-GAD, including nine patients with SPS and three cases with cerebellar ataxia. Additionally, four had hypothyroidism, three epilepsy, two diabetes mellitus and two axial myoclonus.

15210 downloads Cited 4 times in SciELO

Vasculitic neuropathy following influenza seasonal vaccination
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Lorenzoni, Paulo J.

; Scola, Rosana H.

; Kay, Cláudia S. Kamoi

; Queiroz, Eustáquio de

; Cardoso, Juliana

; Werneck, Lineu C.

Arquivos de Neuro-Psiquiatria

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feb 2012, Volume 70 N. 2 Pages 154 - 155

Abstract: En | Text: En | PDF: En

5782 downloads

Isolated hypoglossal nerve palsy: an unusual rare presentation in systemic lupus erythematosus
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Lorenzoni, Paulo José

; Scola, Rosana H.

; Kay, Cláudia S.K.

; Novak, Felipe T.M.

; Cardoso, Elaine H.

; Scalcon, Márcia R.R.

; Rachid Filho, Acir

; Werneck, Lineu C.

Arquivos de Neuro-Psiquiatria

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oct 2011, Volume 69 N. 5 Pages 843 - 844

Abstract: En | Text: En | PDF: En

2294 downloads

10.

Non-paraneoplastic Lambert-Eaton myasthenic syndrome: a brief review of 10 cases
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Lorenzoni, Paulo J.

; Scola, Rosana H.

; Kay, Cláudia S. Kamoi

; Parolin, Sérgio F.

; Werneck, Lineu C.

Arquivos de Neuro-Psiquiatria

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dec 2010, Volume 68 N. 6 Pages 849 - 854

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

A síndrome miastênica de Lambert-Eaton (LEMS) é uma desordem imunomediada da transmissão neuromuscular pré-sinaptica, que mais frequentemente ocorre como efeito à distância de uma neoplasia, na forma paraneoplásica (P-LEMS), ou na forma não paraneoplásica (NP-LEMS); porém poucos estudos têm descrito as características da NP-LEMS. Nós analisamos as manifestações clínicas, laboratoriais, eletrofisiológicas, e resposta ao tratamento em dez pacientes brasileiros com NP-LEMS. A idade média foi de 41,5 anos. A manifestação neurológica mais freqüente foi hiporeflexia ou arreflexia com melhora após o exercício. A resposta ao tratamento ocorreu com piridostigmina, guanidina, prednisona, azatioprina, e ciclosporina; mas não com imunoglobulina intravenosa e plasmaférese. A idade de início, manifestações clínicas e eletrofisiológicas ajudaram mais no diagnóstico do que os anticorpos séricos; o tratamento sintomático com piridostigmina foi efetivo; e o tratamento imunossupressor com prednisona, azatioprina, ou ciclosporina beneficiou mais do que a plasmaférese ou a imunoglobulina intravenosa.

Lambert-Eaton myasthenic syndrome (LEMS) is an immune-mediated disorder of the presynaptic neuromuscular transmission, which more frequently occurs as the remote effect of a neoplasm, in the paraneoplastic form (P-LEMS), or in a non-paraneoplastic form (NP-LEMS); but few studies describe the clinical features of NP-LEMS. We analyzed the clinical manifestations, laboratory findings, electrophysiological studies, and treatment responses in ten Brazilian patients suffering from NP-LEMS. The mean age was 41.5 years. More often neurological findings were hyporeflexia or areflexia with a post-exercise improvement. Treatment response occurred with pyridostigmine, guanidine, prednisone, azathioprine, and cyclosporine; but not response was observed after intravenous immunoglobulin and plasma exchange. Age at onset, clinical manifestations, and electrophysiological abnormalities can help more in the diagnosis than serum antibodies; the symptomatic treatment with pyridostigmine was effective; and the immunosuppressive treatment with prednisone, azathioprine, or cyclosporine was more beneficial than plasma exchange or intravenous immunoglobulin treatment.

10581 downloads

11.

MELAS: clinical features, muscle biopsy and molecular genetics
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Lorenzoni, Paulo José

; Scola, Rosana H.

; Kay, Cláudia S. Kamoi

; Arndt, Raquel C.

; Freund, Aline A.

; Bruck, Isac

; Santos, Mara Lúcia S.F.

; Werneck, Lineu C.

Arquivos de Neuro-Psiquiatria

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sep 2009, Volume 67 N. 3a Pages 668 - 676

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

OBJETIVO: O objetivo deste estudo foi analisar uma série de pacientes brasileiros portadores de MELAS. MÉTODO: Dez pacientes com MELAS foram estudados com correlação entre manifestações clínicas, alterações laboratoriais, estudo eletrofisiológico, histoquímico e molecular. RESULTADOS: O nível de lactato sérico estava aumentado em 8 pacientes. O estudo das imagens do crânio revelou padrão semelhante ao de AVC isquêmico em todos os pacientes. A biópsia muscular mostrou fibras rajadas vermelhas (RRF) em 90% dos pacientes na coloração pelo tricrômio de Gomori modificado e em 100% na reação histoquímica pela desidrogenase succicínica (SDH). A análise da coloração pela citocromo c oxidase indicou atividade deficiente em um paciente e acúmulo subsarcolemal em sete pacientes. Vasos com forte reação para SDH (SSV) ocorreram em seis pacientes. O estudo molecular do gene tRNA Leu(UUR) por PCR/RLFP e seqüenciamento direto mostrou a mutação A3243G no DNAmt de 4 pacientes. CONCLUSÃO: A biópsia muscular frequentemente confirma o diagnóstico de MELAS pela presença de RRF e SSV. O estudo molecular do gene tRNA Leu(UUR) não deve ser o único critério diagnóstico para MELAS.

OBJECTIVE: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. METHOD: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molecular features. RESULTS: Blood lactate was increased in eight patients. Brain image studies revealed a stroke-like pattern in all patients. Muscle biopsy showed ralled-red fibers (RRF) in 90% of patients on modified Gomori-trichrome and in 100% on succinate dehydrogenase stains. Cytochrome c oxidase stain analysis indicated deficient activity in one patient and subsarcolemmal accumulation in seven patients. Strongly succinate dehydrogenase-reactive blood vessels (SSV) occurred in six patients. The molecular analysis of tRNA Leu(UUR) gene by PCR/RLFP and direct sequencing showed the A3243G mutation on mtDNA in 4 patients. CONCLUSION: The muscle biopsy often confirmed the MELAS diagnosis by presence of RRF and SSV. Molecular analysis of tRNA Leu(UUR) gene should not be the only diagnostic criteria for MELAS.

8274 downloads Cited 3 times in SciELO

12.

Complex hyperkinetic movement disorders: an unusual presentation in multiple sclerosis
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Kay, Cláudia S. Kamoi

; Scola, Rosana H.

; Lorenzoni, Paulo J.

; Teive, Hélio A.G.

; Gasparetto, Emerson L.

; Werneck, Lineu C.

Arquivos de Neuro-Psiquiatria

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sep 2009, Volume 67 N. 3b Pages 902 - 903

Abstract: En | Text: En | PDF: En

2101 downloads

13.

Swallowing dysfunction in hereditary neuropathy with liability to pressure palsies
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Lorenzoni, Paulo J.

; Scola, Rosana H.

; Cardoso, Juliana

; Kay, Cláudia S.K.

; Fugmann, Elmar A.

; Marques Jr, Wilson

; Silvado, Carlos E.

; Werneck, Lineu C.

Arquivos de Neuro-Psiquiatria

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dec 2008, Volume 66 N. 4 Pages 898 - 900

Abstract: En | Text: En | PDF: En

4355 downloads

14.

Myasthenia gravis and multiple sclerosis: an uncommon presentation
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Lorenzoni, Paulo J.

; Scola, Rosana H.

; Kay, Cláudia S. Kamoi

; Werneck, Lineu C.

Arquivos de Neuro-Psiquiatria

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jun 2008, Volume 66 N. 2a Pages 251 - 253

Abstract: En | Text: En | PDF: En

16450 downloads

15.

A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia
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Scola, Rosana H.

; Carducci, Carla

; Amaral, Vanise G.

; Lorenzoni, Paulo J.

; Teive, Helio A.G.

; Giovanniello, Teresa

; Werneck, Lineu C.

Arquivos de Neuro-Psiquiatria

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dec 2007, Volume 65 N. 4b Pages 1224 - 1227

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

Distonia dopa-responsiva (DRD), classificada como DYT5, é um erro inato do metabolismo que pode ser causado por dois diferentes tipos de defeito bioquímico: deficiência de GTP ciclo-hidrolase 1 (GCH1) (autossômica dominante) ou de tirosina hidroxilase (autossômica recessiva). Descrevemos o caso de menina de 10 anos com distonia generalizada progressiva e alteração da marcha com importante melhora após uso de levodopa. A relação fenilalanina/tirosina estava aumentada após teste de sobrecarga com fenilalanina. O estudo molecular mostrou que o paciente apresenta uma combinação hererozigótica de mutação no gene GCH1: a já conhecida mutação P23L e uma nova mutação Q182E. Discutem-se as características da DRD e as alterações genéticas possíveis.

Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1) deficiency or autosomal recessive tyrosine hydroxylase deficiency. We report the case of a 10-years-old girl with progressive generalized dystonia and gait disorder who presented dramatic response to levodopa. The phenylalanine to tyrosine ratio was significantly higher after phenylalanine loading test. This condition had two different heterozygous mutations in the GCH1 gene: the previously reported P23L mutation and a new Q182E mutation. The characteristics of the DRD and the molecular genetic findings are discussed.

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