Marcelo Nunes

Universidade Estadual de Campinas (UNICAMP)

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Alberto Martínez

Universidade Estadual de Campinas (UNICAMP)

Marcondes C. França

Universidade Estadual de Campinas (UNICAMP)

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Íscia Lopes‐Cendes

Universidade Estadual de Campinas (UNICAMP)

Anelyssa D’Abreu

University of Virginia

Thiago Junqueira Ribeiro de Rezende

Universidade Estadual de Campinas (UNICAMP)

Carlos Eduardo dos Santos Portela

Centro Universitário UNINOVAFAPI

Rachel Guimarães

Universidade Estadual de Campinas (UNICAMP)

Lorena Maria Barros Brito Batista

Centro Universitário UNINOVAFAPI

Luiza Piovesana

Universidade Estadual de Campinas (UNICAMP)

Anamarli Nucci

Universidade Estadual de Campinas (UNICAMP)

Cooperative Institutions

Universidade Estadual de Campinas (UNICAMP)

Hospital de Clínicas da Unicamp

Brazilian Institute of Neuroscience and Neurotechnology

Centro Universitário UNINOVAFAPI

John Wiley & Sons (United States)

Montreal Neurological Institute and Hospital

Universidade de Brasília

Florey Institute of Neuroscience and Mental Health

Royal College of Surgeons in Ireland

Beaumont Hospital, Dearborn

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Dystonia In Machado-Joseph Disease: Clinical Features And Levodopa Response (P6.051)

Neurology (2014)

Marcelo Nunes Alberto Martínez Íscia Lopes‐Cendes Anelyssa D’Abreu Marcondes C. França

BACKGROUND: Machado-Joseph disease (SCA3/MJD) is the most frequent spinocerebellar ataxia worldwide. Dystonia is a classical feature of SCA3/MJD, but its frequency, clinical profile and levodopa-responsiveness are unsettled issues. OBJECTIVES: To determine clinical features and to investigate levodopa-responsiveness in SCA3/MJD-related dystonia. DESIGN/METHODS: We identified 14 dystonic patients from a larger cohort of 67 patients with SCA3/MJD regularly attending UNICAMP hospital between March 2012 and September 2013. Distribution of dystonia, age at onset of dystonia, presence of sensory ticks and pain were recorded. We then filmed each patient using a standardized protocol. Based on these videos, a blind evaluator used the Marsden-Fahn scale to estimate dystonia severity at baseline and 2 months after therapy with levodopa 300mg/day. Paired student t-test was employed to compare pre and post-levodopa scores. RESULTS: Mean age of dystonic patients was 36.3 years (range 21-55) and there were 8 men. In the dystonic group, mean age at disease and at dystonia onset were 26.7±11 and 32,1±10,4, respectively. Dystonic patients had longer (CAG) expansions (75±3.9 vs 70±2.9, p<0.001) in comparison to non-dystonic patients. Eight out the 14 dystonic patients had generalized dystonia, 1 blepharospasm and 5 focal limb dystonia. Dystonia-associated pain and sensory tricks were found in 8 and 14, respectively. Mean Marsden-Fahn scores pre and post-levodopa therapy were 20.1±13.0 and 19.1±11.7, respectively (p=0.21). CONCLUSIONS: Dystonia is found in 20% of the patients with SCA3/MJD and associated to larger (CAG) expansions. Generalized dystonia accompanied by pain is the most usual phenotype. Levodopa therapy failed to improved dystonia in SCA3/MJD after 2 months. Disclosure: Dr. Nunes has nothing to disclose. Dr. Martinez has nothing to disclose. Dr. Lopes-Cendes has nothing to disclose. Dr. D9Abreu has received personal compensation for activities with Roche Diagnostics Corp., Novartis, and EMS. Dr. Franca, Jr. has nothing to disclose.

Machado–Joseph disease

10.1212/wnl.82.10_supplement.p6.051

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Citations (1)

Dystonia in Machado-Joseph Disease (MJD/SCA3) is Associated with Thalamic and Brainstem Atrophy (P7.079)

Neurology (2014)

Alberto Martínez Marcelo Nunes Thiago Junqueira Ribeiro de Rezende Rachel Guimarães Anelyssa D’Abreu

OBJECTIVE: to compare MRI-based subcortical volumetry in MJD/SCA3 patients with (dMJD/SCA3) and without (c MJD/SCA3) dystonia. BACKGROUND:MJD/SCA3 is the most frequent spinocerebellar ataxia and has remarkable clinical heterogeneity, including movement disorders.Dystonia is frequent and sometimes disabling in MJD/SCA3, but its anatomical substrate is not yet known. DESIGN/METHODS:Demografic data (age, age at onset, gender), SARA (Scale for the Assessment and Rating of Ataxia) scores and (CAG) expansions were obtained for both groups. The Marsden-Fahn rating scale (MFR-S) was applied to quantify dystonia severity in dMJD/SCA3. Volumetric T1W images were acquired on a 3T device using 1mm slices, TE=3.2ms, TR=7.1ms, flip angle 8°, isotropic voxels of 1mm³, FOV=240x240. FreeSurfer software v.5.3 was used to measure subcortical volumes (brainstem, cerebellum, thalami and basal ganglia). We performed ANCOVAtest using subject´s age, gender and intracranial volume (eTIV) as covariates to compare groups. Next, we used a general linear model regression (corrected for head size through eTIV covariation) between MRI parameters and MFR-S. RESULTS:We included 33 cMJD/SCA3 (mean age 52.7±9.2y, 16men) and 19 dMJD/SCA3 (mean age 38.7±14.1y, 11men). dMJD/SCA3 patients had longer (CAG) expansions (75±3.9 vs 70±2.9, p<0.001) and earlier onset (29.6±13.3vs42.8±9.2 years, p=0.001) in comparison to patients in the cMJD/SCA3 group. Dystonic patients also had higher SARA scores (18.2±6.9 vs 12.9±6.9, p=0.017). Ten out of 19 dMJD/SCA3 had generalized dystonia, 2blepharospasm and 7 focal limb dystonia; mean MFR-S score was 16.5±12.6. Comparison between cMJD/SCA3 and dMJD/SCA3 patients showed significant volumetric reduction of the left cerebellum white matter (p=0.037), left thalamus (p=0.035) and brainstem (p=0.027) in the later group. Left cerebellum white matter volume was associated with MFR-S scores in dMJD/SCA3 group (r=0.601, p=0.043). CONCLUSIONS:Dystonia in MJD is associated with large (CAG) expansions, early onset as well as thalamic and brainstem atrophy. These results give insights into potential therapeutic targets for MJD-related dystonia. Study Supported by: Disclosure: Dr. Martinez has nothing to disclose. Dr. Nunes has nothing to disclose. Dr. Rezende has nothing to disclose. Dr. Guimaraes has nothing to disclose. Dr. D9Abreu has received personal compensation for activities with Roche Diagnostics Corp., Novartis, and EMS. Dr. Lopes-Cendes has nothing to disclose. Dr. Franca, Jr. has nothing to disclose.

Machado–Joseph disease

10.1212/wnl.82.10_supplement.p7.079

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Dystonia in Machado–Joseph disease: Clinical profile, therapy and anatomical basis

Parkinsonism & Related Disorders (2015)

Marcelo Nunes Alberto Martínez Thiago Junqueira Ribeiro de Rezende Joseph H. Friedman Íscia Lopes‐Cendes

Focal dystonia

Blepharospasm

Cervical dystonia

10.1016/j.parkreldis.2015.10.016

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Citations (29)

Uso do ácido fólico e sulfato ferroso em gestantes do Município Teresina - PI

ANAIS DO CBMFC (2013)

Carlos Eduardo dos Santos Portela Lorena Maria Barros Brito Batista Ilan Lopes Leite Mendes Marcelo Nunes Gabriela Medeiros Pereira da Silva

Introducao: O uso de acido folico durante a gestacao ajuda na prevencao de disturbios fetais do tubo neural, e o uso de ferro auxilia na prevencao de transtornos do sistema nervoso central. Dessa maneira, recomenda-se que gestantes (≥20a semana) devam receber 60mg de ferro elementar e 5mg de acido folico todos os dias ate o final da gestacao. Objetivos: Avaliar a ingestao e suplementacao de folato e sulfato ferroso, bem como o conhecimento acerca da importância e indicacao do seu uso nas gestantes de baixo risco atendidas por Equipes de Saude da Familia (ESF) de Teresina - PI. Metodologia ou Descricao da Experiencia: Amostra composta por 100 gestantes higidas atendidas em servico de pre-natal de ESFs de Teresina - PI que foram entrevistadas a fim de obter-se dados acerca da suplementacao com folato/sulfato ferroso. Os dados colhidos foram analisados descritivamente atraves do programa SPSS 9.0. Trabalho previamente aprovado pelo Comite de Etica em Pesquisa da NOVAFAPI. Resultados: Das gestantes analisadas tem-se que: 80% desconhecem a importância da utilizacao de acido folico/ferro durante a gestacao; 84% possuem renda familiar ≤ 1 salario minimo; 3% possuem historia familiar de disturbio do tubo neural; 45% tiveram gravidez nao planejada; 87% tomaram os comprimidos de acido folico/ferro apos diagnostico de gravidez; apenas 7% o fizeram antes de confirmada a gestacao Conclusao ou Hipoteses: Embora nao saiba o motivo pelo qual fazem a suplementacao com ferro/acido folico, a maioria das gestantes o faz. No entanto, a imensa maioria das gestantes nao utiliza suplementacao com acido folico previamente a gravidez.

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Fatigue and Its Associated Factors in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease

The Cerebellum (2016)

Alberto Martínez Marcelo Nunes Ingrid Faber Anelyssa D’Abreu Íscia Lopes‐Cendes

Machado–Joseph disease

Epworth Sleepiness Scale

Somnolence

Depression

10.1007/s12311-016-0775-z

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Citations (26)

Sensory Neuronopathy and Autoimmune Diseases

Autoimmune Diseases (2012)

Alberto Martínez Marcelo Nunes Anamarli Nucci Marcondes C. França

Sensory neuronopathies (SNs) are a specific subgroup of peripheral nervous system diseases characterized by primary degeneration of dorsal root ganglia and their projections. Multifocal sensory symptoms often associated to ataxia are the classical features of SN. Several different etiologies have been described for SNs, but immune-mediated damage plays a key role in most cases. SN may herald the onset of some systemic autoimmune diseases, which further emphasizes how important the recognition of SN is in clinical practice. We have thus reviewed available clinical, neurophysiological, and therapeutic data on autoimmune disease-related SN, namely, in patients with Sjögren's syndrome, autoimmune hepatitis, and celiac disease.

10.1155/2012/873587

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Avaliação do acompanhamento laboratorial em gestantes atendidas em hospital referência de Teresina - PI

ANAIS DO CBMFC (2013)

Carlos Eduardo dos Santos Portela Marcelo Nunes Lorena Maria Barros Brito Batista Ilan Lopes Leite Mendes Gabriela Medeiros Pereira da Silva

Introducao: A assistencia pre-natal visa manter a integridade das condicoes de saude materna e fetal. Com os exames medicos realizados no pre-natal, e possivel identificar e reduzir muitos problemas de saude que costumam a atingir a mae e seu bebe. Doencas, infeccoes ou disfuncoes podem ser detectadas precocemente e tratadas de forma rapida. Objetivos: Avaliar a realizacao dos exames laboratoriais recomendados pelo Ministerio da Saude na assistencia de gestantes assistidas no programa de Pre-Natal. Metodologia ou Descricao da Experiencia: Estudo realizado a partir da analise de prontuarios de 100 gestantes higidas atendidas no ambulatorio de obstetricia da Maternidade Wall Ferraz em Teresina/PI. A complementacao da pesquisa foi feita mediante entrevistas e reunioes com agentes comunitarios. Os dados obtidos foram tabulados e analisados descritivamente por meio do programa SPSS 9.0. Trabalho previamente aprovado pelo Comite de Etica em Pesquisa da NOVAFAPI. Resultados: Das gestantes estudadas, 92% realizaram as seis ou mais consultas no pre-natal preconizadas pelo Ministerio da Saude e 22% disseram atrasar a consulta por morar em areas onde nao dispunham do servico. Em relacao aos exames laboratoriais realizados tem-se: tipagem sanguinea/Rh (92% das gestantes); VDRL (85%); glicemia de jejum (83%); EAS (79%); dosagem de hemoglobina (87%); teste anti-HIV (86%); sorologia para hepatite B (78%) e toxoplasmose (81%), parasitologico de fezes (72%), ultrassonografia (91%). Conclusao ou Hipoteses: A maioria das gestantes realiza todos os exames e o numero de consulta minimo durante o pre-natal. Entretanto, deve-se trabalhar para que esse numero chegue a 100% posto que as consequencias da nao realizacao do pre-natal/exames podem ser desastrosas.

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Unusual presentation of a not so rare disease: implications for the differential diagnosis of generalized dystonia (P2.115)

Neurology (2015)

Luiza Piovesana Fábio R. Torres Paula Azevedo Marcelo Nunes Thais Amaral

Background In the past three years we have systematically evaluated patients with dystonia syndromes in Brazil, to better understand its clinical and genetic profile. During this time, we came across two patients with similar presentation, who illustrate the challenges of the differential diagnosis in dystonia. Design/Methods We performed a thorough review of the clinical presentation, patients underwent brain MRI and molecular studies, DYT 1 and DYT 6. Results AN is a 23 year-old male with speech difficulty for 7 years, loss of coordination and rare falls. Physical examination showed dystonia of jaw opening, cervical and intention tremor, mild postural instability, slight inversion of right foot, horizontal nystagmus and brisk tendon reflexes in lower limbs. His relatives had progressive speech and gait disorder. DYT6 and DYT1 mutations were negative. On follow-up, we observed mild ataxia, which led to the molecular confirmation of SCA3 mutation. JBL is a 51 year-old male who suffered a hip and left inner ear trauma in 2002. He developed hearing loss, vertigo, weakness, shortness of breath and difficulty in keeping eyes open. Examination showed blepharospasm, pursing of lips, platismal contractions, cervical dystonia, strained voice, involuntary respiratory muscles contractions and feet inversion during gait. DYT6 and DYT1 sequencing showed no alterations. On the following visits, we noticed axial ataxia and he mentioned his aunts had vertigo. Molecular testing confirmed the SCA3 mutation. Conclusions Generalized dystonia is a diagnostic challenge because of its evolution in time and multiple etiologies. Despite the resemblance of isolated or familial dystonia, these two patients illustrate the need for careful reevaluation and stress the importance of exploring the past medical and family history. We believe that SCA3 should be considered in the differential diagnosis of dystonia, particularly in areas where the disease is relatively frequent. supported by fapesp Disclosure: Dr. Piovesana has nothing to disclose. Dr. Torres has nothing to disclose. Dr. Azevedo has nothing to disclose. Dr. Nunes has nothing to disclose. Dr. Amaral has nothing to disclose. Dr. Rosa has nothing to disclose. Dr. Franca, Jr. has nothing to disclose. Dr. Lopes-Cendes has nothing to disclose. Dr. D9Abreu has nothing to disclose.

Presentation (obstetrics)

Rare disease

Case presentation

10.1212/wnl.84.14_supplement.p2.115

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Chronic meningitis, hydrocephalus and spinal paraplegia in non-systemic histoplasmosis

Arquivos de Neuro-Psiquiatria (2016)

Fabiano Reis Marcondes C. França Anamarli Nucci Luciano de Souza Queiróz Felipe Barjud Pereira do Nascimento

A 27-year-old immunocompetent agricultural worker presented chronic meningitis and hydrocephalus.Despite CSF and systemic investigation no etiology was defined.Spastic paraplegia installed 15 years later.Spinal and brain MRI are displayed in Figures 1 and2.The patient developed intracranial hypertension and died days later.A diagnosis of histoplasmosis was made at autopsy (Figure 3).Histoplamosis as isolated central nervous system disease is rare, being more common in immunosuppressed patients 1,2 .As in this case, it can be a challenging diagnosis, and should be considered in any brain or spinal cord lesion with granulomatous pattern.

Paraplegia

10.1590/0004-282x20160068

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Citations (4)

Poor Carbamazepin Response in Patients with Classical Trigeminal Neuralgia and Polytherapy Treatment Options (P01.088)

Neurology (2013)

Alberto Martínez Marcelo Nunes Ingrid de Vasconcellos Marina K. M. Alvim Alberto da Costa

OBJECTIVE: To evaluate the clinical response to carbamazepin in classical trigeminal neuralgia (TN) patients and also describe the qualitative response to politherapy.

Regimen

10.1212/wnl.80.7_supplement.p01.088

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