Therapeutic plasma exchange for neuromyelitis optica attacks: Evidence and challenges from a real-world cohort from Brazil.

Therapeutic plasma exchange (TPE) can improve disability recovery after neuromyelitis optica spectrum disease (NMOSD) attacks, but its effectiveness and safety in Latin-American patients with access barriers and diverse ethnicity is underexplored. We carried out a retrospective cohort study with NMOSD patients that underwent TPE. 84 NMOSD attacks in 68 patients were evaluated. Despite a median 25-day delay from symptom onset to TPE, 65,5% of patients showed significant improvement. Adverse events occurred in 39% of patients, usually transitory and with no fatalities.

Real-world application of the 2022 diagnostic criteria for first-ever episode of optic neuritis.

Optic neuritis (ON) admits diverse differential diagnoses. Petzold proposed diagnostic criteria for ON in 2022, although real-world application of these criteria is missing. We conducted a retrospective review of patients with ON. We classified patients into definite or possible ON, and into groups A (typical neuritis), B (painless), or C (binocular) and estimated the frequency of etiologies for each group. We included 77 patients, with 62% definite and 38% possible ON. CRION and NMOSD-AQP4 negative-ON were less commonly seen in definite ON. Application of the 2022 criteria revealed a lower-than-expected frequency of definite ON, particularly for seronegative non-MS causes.

A comparative study of visual outcome in patients with optic neuritis treated with five or seven days of intravenous corticosteroid treatment.

BACKGROUND: Optic neuritis (ON), a major cause of visual impairment in young adults, is generally associated with rapid visual recovery when treated with intravenous methylprednisolone treatment (IVMPT). However, the optimal duration of such treatment is unknown, ranging from three to seven days in clinical practice. We aimed to compare the visual recovery in patients treated with 5-day or 7-day duration IVMPT. METHODS: We performed a retrospective cohort study of consecutive patients with ON in São Paulo, Brazil, from 2016 to 2021. We compared the proportion of participants with visual impairment in 5-day and 7-day treatment schedules at discharge, at 1 month and between 6 and 12 months after the diagnosis of ON. The findings were adjusted to age, severity of the visual impairment, co-intervention with plasma exchange, time from symptom onset to IVMPT and the etiology of the ON to mitigate indication bias. RESULTS: We included 73 patients with ON treated with 5 or 7-day duration of 1 g/d intravenous methylprednisolone therapy. Visual impairment at 6-12 months in the 5-day or the 7-day treatment groups was similar (57% x 59%, p > 0.9, Odds Ratio 1.03 [95% CI 0.59-1.84]). The results were similar after adjusting for prognostic variables and when observed at different time points. CONCLUSION: Visual recovery is similar in patients treated with 5-day and 7-day duration treatments of 1 g/day intravenous methylprednisolone, suggesting a ceiling effect. Limiting the duration of the treatment can reduce hospital stay and costs, without interfering with clinical benefit.

Neurological consultations and diagnoses in a large, dedicated COVID-19 university hospital.

BACKGROUND: More than one-third of COVID-19 patients present neurological symptoms ranging from anosmia to stroke and encephalopathy. Furthermore, pre-existing neurological conditions may require special treatment and may be associated with worse outcomes. Notwithstanding, the role of neurologists in COVID-19 is probably underrecognized. OBJECTIVE: The aim of this study was to report the reasons for requesting neurological consultations by internists and intensivists in a COVID-19-dedicated hospital. METHODS: This retrospective study was carried out at Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Brazil, a 900-bed COVID-19 dedicated center (including 300 intensive care unit beds). COVID-19 diagnosis was confirmed by SARS-CoV-2-RT-PCR in nasal swabs. All inpatient neurology consultations between March 23rd and May 23rd, 2020 were analyzed. Neurologists performed the neurological exam, assessed all available data to diagnose the neurological condition, and requested additional tests deemed necessary. Difficult diagnoses were established in consensus meetings. After diagnosis, neurologists were involved in the treatment. RESULTS: Neurological consultations were requested for 89 out of 1,208 (7.4%) inpatient COVID admissions during that period. Main neurological diagnoses included: encephalopathy (44.4%), stroke (16.7%), previous neurological diseases (9.0%), seizures (9.0%), neuromuscular disorders (5.6%), other acute brain lesions (3.4%), and other mild nonspecific symptoms (11.2%). CONCLUSIONS: Most neurological consultations in a COVID-19-dedicated hospital were requested for severe conditions that could have an impact on the outcome. First-line doctors should be able to recognize neurological symptoms; neurologists are important members of the medical team in COVID-19 hospital care.

Neurological consultations and diagnoses in a large, dedicated COVID-19 university hospital / Consultas neurológicas e diagnósticos em um grande hospital universitário dedicado a COVID-19

ABSTRACT Background: More than one-third of COVID-19 patients present neurological symptoms ranging from anosmia to stroke and encephalopathy. Furthermore, pre-existing neurological conditions may require special treatment and may be associated with worse outcomes. Notwithstanding, the role of neurologists in COVID-19 is probably underrecognized. Objective: The aim of this study was to report the reasons for requesting neurological consultations by internists and intensivists in a COVID-19-dedicated hospital. Methods: This retrospective study was carried out at Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Brazil, a 900-bed COVID-19 dedicated center (including 300 intensive care unit beds). COVID-19 diagnosis was confirmed by SARS-CoV-2-RT-PCR in nasal swabs. All inpatient neurology consultations between March 23rd and May 23rd, 2020 were analyzed. Neurologists performed the neurological exam, assessed all available data to diagnose the neurological condition, and requested additional tests deemed necessary. Difficult diagnoses were established in consensus meetings. After diagnosis, neurologists were involved in the treatment. Results: Neurological consultations were requested for 89 out of 1,208 (7.4%) inpatient COVID admissions during that period. Main neurological diagnoses included: encephalopathy (44.4%), stroke (16.7%), previous neurological diseases (9.0%), seizures (9.0%), neuromuscular disorders (5.6%), other acute brain lesions (3.4%), and other mild nonspecific symptoms (11.2%). Conclusions: Most neurological consultations in a COVID-19-dedicated hospital were requested for severe conditions that could have an impact on the outcome. First-line doctors should be able to recognize neurological symptoms; neurologists are important members of the medical team in COVID-19 hospital care.

RESUMO Introdução: Mais de um terço dos pacientes com COVID-19 apresentam sintomas neurológicos que variam de anosmia a AVC e encefalopatia. Além disso, doenças neurológicas prévias podem exigir tratamento especial e estar associadas a piores desfechos. Não obstante, o papel dos neurologistas na COVID-19 é provavelmente pouco reconhecido. Objetivo: O objetivo deste estudo foi relatar os motivos para solicitar consultas neurológicas por clínicos e intensivistas em um hospital dedicado à COVID-19. Métodos: Estudo retrospectivo realizado no Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Brasil, um centro dedicado à COVID-19 com 900 leitos (incluindo 300 leitos para unidades de terapia intensiva). O diagnóstico de COVID-19 foi confirmado por SARS-CoV-2-RT-PCR em swabs nasais. Todas as interconsultas de neurologia hospitalar entre 23 de março e 23 de maio de 2020 foram analisadas. Os neurologistas realizaram o exame neurológico, avaliaram todos os dados disponíveis para diagnosticar a patologia neurológica e solicitaram exames adicionais conforme necessidade. Diagnósticos difíceis foram estabelecidos em reuniões de consenso. Após o diagnóstico, os neurologistas participaram da condução dos casos. Resultados: Foram solicitadas consultas neurológicas para 89 de 1.208 (7,4%) em pacientes internados por COVID-19 durante o período. Os principais diagnósticos neurológicos incluíram: encefalopatia (44,4%), acidente vascular cerebral (16,7%), doenças neurológicas prévias (9,0%), crises epilépticas (9,0%), transtornos neuromusculares (5,6%), outras lesões encefálicas agudas (3,4%) e outros sintomas leves inespecíficos (11,2%). Conclusões: A maioria das consultas neurológicas em um hospital dedicado à COVID-19 foi solicitada para condições graves que poderiam afetar o desfecho clínico. Os médicos na linha de frente devem ser capazes de reconhecer sintomas neurológicos. Os neurologistas são membros importantes da equipe médica no atendimento hospitalar à COVID-19.

Neurological consultations and diagnoses in a large, dedicated COVID-19 university hospital / Consultas neurológicas e diagnósticos em um grande hospital universitário dedicado a COVID-19

Background: More than one-third of COVID-19 patients present neurological symptomsranging from anosmia to stroke and encephalopathy. Furthermore, pre-existingneurological conditions may require special treatment and may be associated with worseoutcomes. Notwithstanding, the role of neurologists in COVID-19 is probablyunderrecognized. Objective: The aim of this study was to report the reasons forrequesting neurological consultations by internists and intensivists in a COVID-19-dedicated hospital. Methods: This retrospective study was carried out at Hospital dasClínicas da Faculdade de Medicina da Universidade de São Paulo, Brazil, a 900-bedCOVID-19 dedicated center (including 300 intensive care unit beds). COVID-19 diagnosiswas confirmed by SARS-CoV-2-RT-PCR in nasal swabs. All inpatient neurologyconsultations between March 23rd and May 23rd, 2020 were analyzed. Neurologistsperformed the neurological exam, assessed all available data to diagnose theneurological condition, and requested additional tests deemed necessary. Difficultdiagnoses were established in consensus meetings. After diagnosis, neurologists wereinvolved in the treatment. Results: Neurological consultations were requested for 89 outof 1,208 (7.4%) inpatient COVID admissions during that period. Main neurologicaldiagnoses included: encephalopathy (44.4%), stroke (16.7%), previous neurologicaldiseases (9.0%), seizures (9.0%), neuromuscular disorders (5.6%), other acute brainlesions (3.4%), and other mild nonspecific symptoms (11.2%). Conclusions: Mostneurological consultations in a COVID-19-dedicated hospital were requested for severeconditions that could have an impact on the outcome. First-line doctors should be able torecognize neurological symptoms; neurologists are important members of the medicalteam in COVID-19 hospital care.

Introdução: Mais de um terço dos pacientes com COVID-19 apresentam sintomasneurológicos que variam de anosmia a AVC e encefalopatia. Além disso, doençasneurológicas prévias podem exigir tratamento especial e estar associadas a pioresdesfechos. Não obstante, o papel dos neurologistas na COVID-19 é provavelmentepouco reconhecido. Objetivo: O objetivo deste estudo foi relatar os motivos para solicitarconsultas neurológicas por clínicos e intensivistas em um hospital dedicado à COVID-19. Métodos: Estudo retrospectivo realizado no Hospital das Clínicas da Faculdade deMedicina da Universidade de São Paulo, Brasil, um centro dedicado à COVID-19 com900 leitos (incluindo 300 leitos para unidades de terapia intensiva). O diagnóstico deCOVID-19 foi confirmado por SARS-CoV-2-RT-PCR em swabs nasais. Todas asinterconsultas de neurologia hospitalar entre 23 de março e 23 de maio de 2020 foramanalisadas. Os neurologistas realizaram o exame neurológico, avaliaram todos os dadosdisponíveis para diagnosticar a patologia neurológica e solicitaram exames adicionaisconforme necessidade. Diagnósticos difíceis foram estabelecidos em reuniões deconsenso. Após o diagnóstico, os neurologistas participaram da condução dos casos.Resultados: Foram solicitadas consultas neurológicas para 89 de 1.208 (7,4%) empacientes internados por COVID-19 durante o período. Os principais diagnósticosneurológicos incluíram: encefalopatia (44,4%), acidente vascular cerebral (16,7%),doenças neurológicas prévias (9,0%), crises epilépticas (9,0%), transtornosneuromusculares (5,6%), outras lesões encefálicas agudas (3,4%) e outros sintomasleves inespecíficos (11,2%). Conclusões: A maioria das consultas neurológicas em umhospital dedicado à COVID-19 foi solicitada para condições graves que poderiam afetaro desfecho clínico. Os médicos na linha de frente devem ser capazes de reconhecersintomas neurológicos. Os neurologistas são membros importantes da equipe médica noatendimento hospitalar à COVID-19.

Psychosis and concurrent impulse control disorder in Parkinson's disease: A review based on a case report / Psicose e transtorno de impulsividade concomitantes na Doença de Parkinson: revisão baseada em um relato de caso

ABSTRACT Psychosis, impulse control disorders (e.g., pathological gambling and hypersexuality) and repetitive behaviors such as punding are known psychiatric complications of Parkinson's disease (PD). Impulsive, compulsive and repetitive behaviors are strongly associated with dopamine-replacement therapy. We present the case of a 58-year-old man with PD and a myriad of psychiatric symptoms. Concurrent psychosis, punding and pathological gambling developed more than six years after the introduction of pramipexole and ceased shortly after the addition of quetiapine and discontinuation of pramipexole. This report emphasizes the importance of monitoring for a wide array of psychiatric symptoms in patients on dopamine replacement therapy.

RESUMO Psicose, transtornos do impulso (como jogo patológico e hipersexualidade) e comportamentos repetitivos como punding são complicações psiquiátricas conhecidas da doença de Parkinson. Comportamentos repetitivos, impulsivos e compulsivos são fortemente associados a terapia de reposição dopaminérgica. Nós apresentamos o caso de um homem de 58 anos com doença de Parkinson de início precoce e múltiplos sintomas psiquiátricos. Psicose, punding e jogo patológico surgiram mais de seis anos após a introdução de pramipexol e cessaram pouco após sua descontinuação e introdução de quetiapina. Nosso relato enfatiza a importância do monitoramento para uma ampla gama de sintomas psiquiatricos em pacientes com doença de parkinson em uso de terapia de reposição dopaminérgica.

Psychosis and concurrent impulse control disorder in Parkinson's disease: A review based on a case report.

Psychosis, impulse control disorders (e.g., pathological gambling and hypersexuality) and repetitive behaviors such as punding are known psychiatric complications of Parkinson's disease (PD). Impulsive, compulsive and repetitive behaviors are strongly associated with dopamine-replacement therapy. We present the case of a 58-year-old man with PD and a myriad of psychiatric symptoms. Concurrent psychosis, punding and pathological gambling developed more than six years after the introduction of pramipexole and ceased shortly after the addition of quetiapine and discontinuation of pramipexole. This report emphasizes the importance of monitoring for a wide array of psychiatric symptoms in patients on dopamine replacement therapy.

Psicose, transtornos do impulso (como jogo patológico e hipersexualidade) e comportamentos repetitivos como punding são complicações psiquiátricas conhecidas da doença de Parkinson. Comportamentos repetitivos, impulsivos e compulsivos são fortemente associados a terapia de reposição dopaminérgica. Nós apresentamos o caso de um homem de 58 anos com doença de Parkinson de início precoce e múltiplos sintomas psiquiátricos. Psicose, punding e jogo patológico surgiram mais de seis anos após a introdução de pramipexol e cessaram pouco após sua descontinuação e introdução de quetiapina. Nosso relato enfatiza a importância do monitoramento para uma ampla gama de sintomas psiquiatricos em pacientes com doença de parkinson em uso de terapia de reposição dopaminérgica.

Prevalence of depressive symptoms among elderly in the city of Tremembé, Brazil: preliminary findings of an epidemiological study.

Depression is a heterogeneous mental disease classified as a set of disorders, which manifest with a certain duration, frequency and intensity. The prevalence of depression in the elderly ranges from 0.5 to 16%. OBJECTIVE: To establish, in an epidemiological study, the prevalence of significant depressive symptoms in the population aged 60 years or older. METHODS: Results of a cross-sectional epidemiological study, involving home visits, being carried out in the city of Tremembé, Brazil, were reported. The sample was randomly selected by drawing 20% of the population over 60 years from each of the city's census sectors. In this single-phase study, the assessment included clinical history, physical and neurological examination, cognitive evaluation, the Cornell scale and the Patient Health Questionnaire for psychiatric symptoms. Scores greater than or equal to 8 on the Cornell scale were taken to indicate the presence of depressive symptoms. RESULTS: A total of 455 elders were assessed, and of these 169 (37.1%) had clinically significant depressive symptoms (CSDS). Depression prevalence was higher among women (p<0.001) and individuals with lower education (p=0.033). The Chi-square test for trends showed a significant relationship where lower socioeconomic status was associated with greater likelihood of depressive symptoms (p=0.005). CONCLUSION: The prevalence of depressive symptoms was high in this sample of the population-based study and was associated with female gender, low educational level and socioeconomic status. The assessment of the entire population sample must be completed.

Depressão é uma doença mental heterogênea classificada como um conjunto de transtornos, que se manifestam numa certa duração, frequência e intensidade. A prevalência de depressão em idosos varia de 0,5 a 16%. OBJETIVO: estabelecer a prevalência de sintomas depressivos significantes em estudo epidemiológico em população acima de 60 anos. MÉTODOS: Estudo epidemiológico do tipo transversal, no qual estão sendo realizadas visitas domiciliares na cidade de Tremembé, Brasil. A amostra foi aleatória, através do sorteio de 20% da população acima de 60 anos de cada setor censitário do município. Este estudo é de única fase, sendo realizada anamnese, exames físico e neurológico, avaliação cognitiva e aplicação de escalas de Cornell e questionário Patient Health Questionnaire para verificar sintomas psiquiátricos. Foi adotado como critério da presença de sintomas depressivos, pontuação maior ou igual a 8 na escala de Cornell. RESULTADOS: Foram avaliadas 455 pessoas e destas 169 (37,1%) apresentaram sintomas depressivos significativos clinicamente (SDSC). A maior prevalência foi entre as mulheres (p<0,001) e com escolaridade mais baixa (p=0,033). Quando realizado o teste de qui-quadrado de tendência, houve relação significativa, à medida que diminui o nível socioeconômico, aumenta a chance da presença de sintomas depressivos (p=0,005). CONCLUSÃO: A prevalência de sintomas depressivos foi elevada nesta amostra do estudo populacional e com associação com gênero feminino, baixo nível educacional e socioeconômico, mas há necessidade de finalizar toda amostragem.

The fragile x-associated tremor and ataxia syndrome (FXTAS).

FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene causes the fragile X syndrome (FXS), the most common cause of inherited mental retardation. Individuals affected by FXTAS generally present intention tremor and gait ataxia that might be associated to specific radiological and/or neuropathological signs. Other features commonly observed are parkinsonism, cognitive decline, peripheral neuropathy and autonomic dysfunction. Nearly a decade after its clinical characterization, FXTAS is poorly recognized in Brazil. Here we present a review of the current knowledge on the clinical, genetic and diagnostic aspects of the disease.

The fragile x-associated tremor and ataxia syndrome (FXTAS) / A síndrome de tremor e ataxia associada ao X frágil (FXTAS)

FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene causes the fragile X syndrome (FXS), the most common cause of inherited mental retardation. Individuals affected by FXTAS generally present intention tremor and gait ataxia that might be associated to specific radiological and/or neuropathological signs. Other features commonly observed are parkinsonism, cognitive decline, peripheral neuropathy and autonomic dysfunction. Nearly a decade after its clinical characterization, FXTAS is poorly recognized in Brazil. Here we present a review of the current knowledge on the clinical, genetic and diagnostic aspects of the disease.

A FXTAS (síndrome de tremor e ataxia associada ao X frágil) é uma doença neurodegenerativa de início tardio que afeta principalmente homens acima dos 50 anos de idade, portadores de pré-mutação do gene FMR1. A mutação completa desse gene é responsável pela síndrome do cromossomo X frágil (SXF), a causa mais comum de deficiência mental herdada. Indivíduos afetados pela FXTAS geralmente apresentam tremor de intenção e ataxia de marcha que podem estar associados a sinais radiológicos ou neuropatológicos específicos. Outras características comumente observadas são parkinsonismo, declínio cognitivo, neuropatia periférica e disfunções autonômicas. Quase uma década após sua caracterização clínica, a FXTAS é mal conhecida por médicos no Brasil. Esta revisão apresenta o conhecimento atual sobre os aspectos clínicos, genéticos e diagnósticos da síndrome.

Dementia in Fragile X-associated Tremor/Ataxia Syndrome / Demência na síndrome de tremor-ataxia associada ao X-Frágil

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cause of movement disorders and cognitive decline which has probably been underdiagnosed, especially if its prevalence proves similar to those of progressive supranuclear palsy and amyotrophic lateral sclerosis. We report a case of a 74-year-old man who presented with action tremor, gait ataxia and forgetfulness. There was a family history of tremor and dementia, and one of the patient?s grandsons was mentally deficient. Neuropsychological evaluation disclosed a frontal network syndrome. MRI showed hyperintensity of both middle cerebellar peduncles, a major diagnostic hallmark of FXTAS. Genetic testing revealed premutation of the FMR1 gene with an expanded (CGG)90 repeat. The diagnosis of FXTAS is important for genetic counseling because the daughters of the affected individuals are at high risk of having offspring with fragile X syndrome. Tremors and cognitive decline should raise the diagnostic hypothesis of FXTAS, which MRI may subsequently reinforce, while the detection of the FMR1 premutation can confirm the condition.

A síndrome de tremor-ataxia associada ao X-frágil (FXTAS) é uma causa de distúrbios do movimento e de declínio cognitivo que provavelmente tem sido subdiagnosticada, especialmente se a sua prevalência for realmente similar às da paralisia supranuclear progressiva e esclerose lateral amiotrófica. Relatamos um caso de um homem de 74 anos que se apresentou com tremor de ação, ataxia de marcha e esquecimento. Havia história familiar de tremor e de demência e um de seus netos era mentalmente deficiente. A avaliação neuropsicológica demonstrou uma síndrome frontal. A ressonância magnética (RM) revelou hiperintensidade de ambos os pedúnculos cerebelares médios, um critério maior para o diagnóstico de FXTAS. Os testes genéticos confirmaram a presença da pré-mutação do gene FMR1, com uma repetição (CGG)90. O diagnóstico de FXTAS é importante para o aconselhamento genético porque as filhas dos indivíduos afetados tem alto risco de ter uma criança com síndrome do X-frágil. A presença de tremores e declínio cognitivo deve levantar a hipótese diagnóstica de FXTAS, que poderá ser reforçada pela RM e confirmada pela presença da pré-mutação do gene FMR1.

Dementia in Fragile X-associated Tremor/Ataxia Syndrome.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cause of movement disorders and cognitive decline which has probably been underdiagnosed, especially if its prevalence proves similar to those of progressive supranuclear palsy and amyotrophic lateral sclerosis. We report a case of a 74-year-old man who presented with action tremor, gait ataxia and forgetfulness. There was a family history of tremor and dementia, and one of the patient's grandsons was mentally deficient. Neuropsychological evaluation disclosed a frontal network syndrome. MRI showed hyperintensity of both middle cerebellar peduncles, a major diagnostic hallmark of FXTAS. Genetic testing revealed premutation of the FMR1 gene with an expanded (CGG)90 repeat. The diagnosis of FXTAS is important for genetic counseling because the daughters of the affected individuals are at high risk of having offspring with fragile X syndrome. Tremors and cognitive decline should raise the diagnostic hypothesis of FXTAS, which MRI may subsequently reinforce, while the detection of the FMR1 premutation can confirm the condition.

A síndrome de tremor-ataxia associada ao X-frágil (FXTAS) é uma causa de distúrbios do movimento e de declínio cognitivo que provavelmente tem sido subdiagnosticada, especialmente se a sua prevalência for realmente similar às da paralisia supranuclear progressiva e esclerose lateral amiotrófica. Relatamos um caso de um homem de 74 anos que se apresentou com tremor de ação, ataxia de marcha e esquecimento. Havia história familiar de tremor e de demência e um de seus netos era mentalmente deficiente. A avaliação neuropsicológica demonstrou uma síndrome frontal. A ressonância magnética (RM) revelou hiperintensidade de ambos os pedúnculos cerebelares médios, um critério maior para o diagnóstico de FXTAS. Os testes genéticos confirmaram a presença da pré-mutação do gene FMR1, com uma repetição (CGG)90. O diagnóstico de FXTAS é importante para o aconselhamento genético porque as filhas dos indivíduos afetados tem alto risco de ter uma criança com síndrome do X-frágil. A presença de tremores e declínio cognitivo deve levantar a hipótese diagnóstica de FXTAS, que poderá ser reforçada pela RM e confirmada pela presença da pré-mutação do gene FMR1.

Treatment of cervical dystonia with botulinum toxin in a patient with myasthenia gravis

We report the case of a 49-year-old woman who has the rare combination of myasthemia gravis and cervical dystomia. She was treated with botulinum toxin type A with good response and no evidence of deterioration of the myasthenic symptoms. We therefore conclude that it is possible to use botulinum toxin in the presence of defective neuromuscular transmission.