RESUMO
Olfactory dysfunction is a very common and early sign in neurodegenerative disorders, but few data are already available in hereditary ataxias. Our aim was to evaluate the sense of smell in patients with molecular-proven spinocerebellar ataxia type 3 (SCA3). Forty-one patients with SCA3 and 46 control subjects were studied. The sense of smell was tested using the Sniffin's Sticks (SS-16). We also evaluated Mini-Mental State Examination (MMSE) and non-cerebellar symptoms, such as parkinsonism, dystonia, and restless legs syndrome (RLS). The SCA3 group had significantly lower SS-16 scores than controls (11.5 ± 2.4 vs 12.8 ± 1.5, p = 0.003). Multiple linear regression analyses, controlling for age, sex, education, cigarette smoking, and MMSE scores, showed that SCA3 (p = 0.021), sex (p = 0.003) and MMSE scores (p = 0.002) had significant regression coefficients. All the variables taken together were significantly associated with the SS-16 scores (p ≤ 0.001). Although MMSE scores and female sex were stronger predictors of the SS-16 scores than SCA3, subjects with SCA3 had lower scores on the SS-16, regardless of sex or MMSE scores. Additionally, MMSE scores, sex and presence of RLS were the best predictors of SS-16 scores. Overall, our results strengthen that the sense of smell is significantly reduced in patients with SCA3 and that sex, MMSE scores and RLS also influence the SS-16 scores.
Assuntos
Doença de Machado-Joseph/complicações , Transtornos do Olfato/etiologia , Olfato/fisiologia , Adulto , Feminino , Humanos , Masculino , Entrevista Psiquiátrica Padronizada , Pessoa de Meia-Idade , Transtornos do Olfato/diagnóstico , Transtorno do Comportamento do Sono REM/etiologia , Análise de RegressãoRESUMO
OBJECTIVES: To describe the clinical characteristics of patients with relapsing neuromyelitis optica (NMO) from a tertiary care center in Brazil and compare the groups with normal and abnormal brain magnetic resonance imaging (MRI). METHODS: Retrospective review of 41 patients followed at the Neuroimmunology Clinic of the Federal University of São Paulo, Brazil, from 1994 to 2007. RESULTS: All patients had relapsing-remitting optic-spinal disease, long extending spinal cord lesions, and brain MRI not meeting Barkhof criteria for multiple sclerosis (MS), thus fulfilling the 1999 and 2006 Wingerchuck criteria for NMO. Mean follow-up time was 52 months; mean age of onset was 32.6 years. The mean relapse rate (RR) and progression index (PI) were 1.0 and 0.9, respectively. Twenty-four patients had brain lesions not compatible with MS on MRI, and there were no statistical differences on PI and RR between patients who had brain lesions and patients who did not. Incomplete recovery, but not the type of first relapse, correlated with a worse prognosis. Seventeen patients were tested for NMO-IgG (anti-aquaporin-4 antibody) with 41% positivity. CONCLUSIONS: In this series, we did not find a statistical difference of disease progression between patients with and without brain lesions, suggesting that the presence of brain abnormalities is not a marker of disease severity.
Assuntos
Imageamento por Ressonância Magnética , Esclerose Múltipla Recidivante-Remitente/epidemiologia , Esclerose Múltipla Recidivante-Remitente/patologia , Neuromielite Óptica/epidemiologia , Neuromielite Óptica/patologia , Adulto , Brasil/epidemiologia , Estudos de Coortes , Feminino , Seguimentos , Humanos , Imunoglobulina G/sangue , Masculino , Valor Preditivo dos Testes , Prognóstico , Estudos Retrospectivos , Índice de Gravidade de Doença , Adulto JovemRESUMO
The aim of this study was to evaluate the visual attention of children with migraine and compare it with a control group. Thirty migrainous children and 30 controls without headache were subjected to a visual attention assessment with Trail Making Tests (TMT) A/B, Letter Cancellation Test, and the Brazilian computerized test Visual Attention Test, third edition. The migraine group was evaluated after 2 days without headache. The migraine group had an inferior performance compared with the control group on TMT A (P = 0.03) and B (P = 0.001), and more errors on tasks 1 (P = 0.032) and 2 (P = 0.015) of the Visual Attention Test, presenting difficulty with selective and alternate attention. Attention is a neurological function that depends on structures such as the brainstem, cerebral cortex and the limbic system and on neurotransmitters such as dopamine and noradrenaline. The neurochemical aspects involved in the physiopathology of migraine and attention mechanisms probably predispose these children to visual attention deficits.
Assuntos
Atenção/fisiologia , Transtornos de Enxaqueca/fisiopatologia , Criança , Feminino , Humanos , Masculino , Estimulação Luminosa , Teste de Sequência AlfanuméricaAssuntos
Infecções Parasitárias do Sistema Nervoso Central/diagnóstico , Infecções Parasitárias do Sistema Nervoso Central/parasitologia , Encefalomielite Aguda Disseminada/diagnóstico , Toxocara canis/imunologia , Toxocaríase/complicações , Toxocaríase/diagnóstico , Animais , Animais Domésticos/parasitologia , Anti-Inflamatórios/uso terapêutico , Anticorpos Anti-Helmínticos/sangue , Anticorpos Anti-Helmínticos/líquido cefalorraquidiano , Antinematódeos/uso terapêutico , Encéfalo/parasitologia , Encéfalo/patologia , Encéfalo/fisiopatologia , Infecções Parasitárias do Sistema Nervoso Central/fisiopatologia , Pré-Escolar , Diagnóstico Diferencial , Cães , Encefalomielite Aguda Disseminada/fisiopatologia , Eosinofilia/imunologia , Eosinofilia/parasitologia , Feminino , Substâncias Perigosas , Humanos , Imageamento por Ressonância Magnética , Prednisolona/uso terapêutico , Medula Espinal/parasitologia , Medula Espinal/patologia , Medula Espinal/fisiopatologia , Tiabendazol/uso terapêutico , Toxocaríase/fisiopatologiaRESUMO
INTRODUCTION: Considerable progress has been made in the treatment of patients with relapsing-remitting multiple sclerosis (MS) over the last decade. Exactly how these changes are reflected in daily practice, however, is still not very well known. AIM: To hold interactive workshops so as to be able to evaluate the opinions of Latin-American neurologists about the therapeutic decisions taken with regard to MS. MATERIALS AND METHODS: By means of an interactive voting system, professionals attending each workshop replied to ten pre-established questions about when to start treatment, the use of magnetic resonance imaging (MRI) to supervise treatment, the definition of therapeutic failure and the role of treatment using immunosuppressants. The results were compared with those obtained in similar workshops attended by European and North American neurologists held six months earlier. RESULTS: The use of immunomodulators was considered to be useful in isolated demyelinating syndromes, as 40-50% endorsed their use in clinically stable patients. MRI was seen to be the most sensitive method of monitoring the effectiveness of the therapy -70.6% of them proposed the application of annual scans, which suggests a more frequent use in Latin America than in Europe or the USA. On defining therapeutic failure, the clinical criteria were more important than the MRI scan, and a switch from beta interferons to glatiramer acetate or vice versa was recommended. Treatment with immunosuppressants was considered to be useful in reducing the accumulated disability, but there was no agreement on how to use them. In Latin America, decisions about when to begin treatment seem to lie somewhere between the more favourable posture adopted in USA and the more conservative stance in Europe. CONCLUSIONS: This survey reflects the controversies that affect the therapeutic decisions concerning MS in Latin America and highlights the areas in which more data are needed to optimise the standards of treatment.
Assuntos
Tomada de Decisões , Esclerose Múltipla Recidivante-Remitente/terapia , Padrões de Prática Médica/normas , Conferências de Consenso como Assunto , Humanos , Imunossupressores/uso terapêutico , América Latina , Imageamento por Ressonância Magnética , Esclerose Múltipla Recidivante-Remitente/patologia , Neurologia , Inquéritos e Questionários , Falha de Tratamento , Recursos HumanosRESUMO
BACKGROUND: There are few reports describing the coexistence of dystrophic features with those typical of mitochondrial myopathies in muscle biopsy. A recent study suggested that dystrophic features are frequent in patients with chronic progressive external ophthalmoplegia (CPEO) with a high mutation load, but the actual frequency of these abnormalities in CPEO remains undetermined. OBJECTIVE: To review the occurrence of dystrophic abnormalities in a large series of patients with CPEO to assess the frequency of such abnormalities and to verify whether they are correlated with specific mitochondrial DNA (mtDNA) mutations. METHODS: Retrospective survey of case series (86 patients with CPEO). RESULTS: Only three cases with dystrophic abnormalities were found: two with a large scale mtDNA deletion and one with the A3251G mutation. All three patients showed predominantly proximal muscular weakness resembling limb girdle muscular dystrophy. CONCLUSIONS: Dystrophic abnormalities are rare in CPEO and are not correlated with a specific molecular defect.
Assuntos
Distrofia Muscular do Cíngulo dos Membros/epidemiologia , Oftalmoplegia Externa Progressiva Crônica/epidemiologia , Adulto , Biópsia , Creatina Quinase/sangue , DNA Mitocondrial/genética , Feminino , Expressão Gênica/genética , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/patologia , Mutação Puntual/genética , Polimorfismo de Fragmento de Restrição , Estudos RetrospectivosRESUMO
OBJECTIVE: To evaluate exercise test responses in hypokalaemic periodic paralysis (HPP), to determine its value as a diagnostic tool and the factors that could affect the responses. METHODS: 22 subjects were studied from two families with HPP caused by R528H mutation, four patients with thyrotoxic periodic paralysis, 15 normal controls, and four controls with hyperthyroidism. All family members were submitted to clinical evaluation, electrophysiological exercise testing, and DNA analysis. Patients with thyrotoxic periodic paralysis had exercise tests before and after treatment of their hyperthyroidism. RESULTS: Abnormal responses to the exercise tests were obtained only in subjects with recent attacks of weakness. They were not correlated with genotype, as asymptomatic carriers were unaffected. Patients with thyrotoxic periodic paralysis showed pronounced impairment while they were hyperthyroid, but improved when they were euthyroid. One patient with HPP and chronic KCl use had an increase in amplitude potentials over approximately 20 minutes, possibly related to alteration of potassium homeostasis. CONCLUSIONS: The exercise test is a useful diagnostic test for periodic paralysis, but in the absence of recent weakness negative results must be viewed with caution. It has advantages over the DNA test in being a non-invasive functional test that can provide insights into abnormalities of muscle excitability.
Assuntos
Teste de Esforço , Paralisia Periódica Hipopotassêmica/diagnóstico , DNA/análise , Diagnóstico Diferencial , Progressão da Doença , Eletrofisiologia , Genótipo , Humanos , Paralisia Periódica Hipopotassêmica/genética , Paralisia Periódica Hipopotassêmica/patologia , Debilidade Muscular/fisiopatologia , Linhagem , Sensibilidade e EspecificidadeRESUMO
Medulloblastoma has variable appearances on MRI in both children and adults. Adults are more likely to have heterogeneous cerebellar hemisphere tumours, and this is thought to be related to the greater prevalence of desmoplastic tumours in adulthood. Few studies have addressed the MRI features of adult medulloblastoma and the specific characteristics of desmoplastic and classic tumours have not been analysed. Our aim was to analyse the imaging characteristics of desmoplastic (DM) and classic (CM) medulloblastomas in adult. We retrospectively studied preoperative MRI of six men and three women, median age 33 years, range 23-53 years, with pathologically proved medulloblastomas. There were six (67%) with DM. The tumour was in the cerebellar hemisphere in eight patients (89%), including the three with CM, one of which was bilateral. All tumours were heterogeneous, giving predominantly low or isointense signal on T1- and isointense signal on T2-weighted images. Cystic or necrotic areas in all patients were particularly visible on T2-weighted images. Contrast enhancement was absent in one DM and varied from slight to intense in eight (three CM), homogeneous in one DM and patchy in seven. All tumours extended to the surface of the cerebellum and two had well-defined margins. MRI does not allow a clear distinction between DM and CM in adults.
Assuntos
Neoplasias Cerebelares/diagnóstico , Imageamento por Ressonância Magnética/métodos , Meduloblastoma/diagnóstico , Adulto , Mapeamento Encefálico , Neoplasias Cerebelares/classificação , Neoplasias Cerebelares/fisiopatologia , Feminino , Humanos , Aumento da Imagem , Imageamento por Ressonância Magnética/instrumentação , Masculino , Meduloblastoma/classificação , Meduloblastoma/fisiopatologia , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
INTRODUCTION: We present herein clinical, histological and magnetic resonance imaging (MRI) findings in a patient with Fukuyama-type congenital muscular dystrophy (FCMD). He is the first case report in the Japanese population living in Brazil. CASE REPORT: The child presented with neonatal hypotonia, delayed motor abilities and speech, seizures, cerebral and cerebellar gyrus abnormalities with signal intensity change in the white matter by MRI, high serum level of creatinephosphokinase (CK), and dystrophic skeletal muscle with normal merosin, alpha-sarcoglycan and dystrophin expression. The fukutin gene study showed one founder 3-kb retrotransposal insertion in the 3'-non-coding region, and in the other allele no mutation was detected after screening all exons and flanking introns by sequencing. DISCUSSION: This case report emphasizes the importance to consider FCMD in Japanese people living in other countries.