Ataxias esporádicas de início no adulto: um desafio diagnóstico

Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases, degenerative disorders and even genetic conditions. Considering heterogeneity in the clinical spectrum of sporadic ataxias, the correct diagnosis remains a clinical challenge. In this review, the different disease categories that lead to sporadic ataxia with adult onset are discussed with special emphasis on their clinical and neuroimaging features, and diagnostic criteria.Pacientes com ataxia progressiva que se inicia na idade adulta, e sem histórico familiar da doença, são classificados no grupo das ataxias esporádicas. Existem várias categorias de doenças que podem se manifestar com ataxia esporádica, tais como: causas tóxicas, ataxias imunomediadas, deficiência de vitaminas, doenças infecciosas, doenças degenerativas e até mesmo condições genéticas. Considerando a heterogeneidade no espectro clínico das ataxias esporádicas, a definição da etiologia constitui um desafio diagnóstico. Neste artigo de revisão, realizamos uma discussão sobre as diferentes categorias de doenças que causam ataxia com início na idade adulta sem histórico familiar, com ênfase nas características clínicas, aspectos de imagem e critérios diagnósticos.Universidade Federal de São Paulo (UNIFESP) Unidade Ataxia Departamento de Neurologia e NeurocirurgiaUniversidade Estadual do Ceará Centro de Ciências da SaúdeUNIFESP, Unidade Ataxia Depto. de Neurologia e NeurocirurgiaSciEL

Retração palpebral não é um sinal patognomônico da doença de Machado-Joseph no contexto das ataxias espinocerebelares

Universidade Federal de São Paulo (UNIFESP) Unidade Ataxia Departamento de NeurologiaUNIFESP, Unidade Ataxia Depto. de NeurologiaSciEL

Clinical and epidemiological profiles of non-traumatic myelopathies

Non-traumatic myelopathies represent a heterogeneous group of neurological conditions. Few studies report clinical and epidemiological profiles regarding the experience of referral services. Objective: To describe clinical characteristics of a non-traumatic myelopathy cohort. Method: Epidemiological, clinical, and radiological variables from 166 charts of patients assisted between 2001 and 2012 were compiled. Results: The most prevalent diagnosis was subacute combined degeneration (11.4%), followed by cervical spondylotic myelopathy (9.6%), demyelinating disease (9%), tropical spastic paraparesis (8.4%) and hereditary spastic paraparesis (8.4%). Up to 20% of the patients presented non-traumatic myelopathy of undetermined etiology, despite the broad clinical, neuroimaging and laboratorial investigations. Conclusion: Regardless an extensive evaluation, many patients with non-traumatic myelopathy of uncertain etiology. Compressive causes and nutritional deficiencies are important etiologies of non-traumatic myelopathies in our population.Univ Fed Sao Paulo, Dept Neurol & Neurocirurgia, Div Geral Neurol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Neurol & Neurocirurgia, Div Geral Neurol, Sao Paulo, SP, BrazilWeb of Scienc

Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias

The spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7) is caused by an abnormal CAG repeat expansion and includes cerebellar signs associated with visual loss and ophthalmoplegia. Marked anticipation and dynamic mutation is observed in SCA7. Moreover, phenotype variability and very early onset of symptoms may occur. In this article, a large series of Brazilian patients with different SCA subtypes was evaluated, and we compared the age of onset of SCA7 with other SCA. From the 26 patients with SCA7, 4 manifested their symptoms before 10-year-old. Also, occasionally the parents may have the onset of symptoms after their children. In conclusion, our study highlights the genetic anticipation phenomenon that occurs in SCA7 families. Patients with very early onset ataxia in the context of a remarkable family history, must be considered and tested for SCA7

Superior cerebellar hyperintense sign on FLAIR-weighted magnetic resonance imaging in paraneoplastic cerebellar degeneration

Universidade Federal de São Paulo (UNIFESP) Department of Neurology Ataxia UnitUNIFESP, Department of Neurology Ataxia UnitSciEL

Sinal hipertenso do vérmis cerebelar superior na sequência FLAIR em um paciente com degeneração cerebelar paraneoplásica

Universidade Federal de São Paulo (UNIFESP) Department of Neurology Ataxia UnitUNIFESP, Department of Neurology Ataxia UnitSciEL

Should spinocerebellar ataxias be included in the differential diagnosis for Huntington's diseases-like syndromes?

In this article, we describe three patients with different spinocerebellar ataxia (SCA) subtypes presenting with unusual movement disorders predominantly characterized by choreoathetosis, which, together with their autosomal dominant pattern of inheritance, resembled the Huntington-like syndromes. From a large SCA cohort, we have observed chorea in 1/35 SCA2, 1/112 SCA3/MJD, and 1/30 SCA7 patients. Twenty-eight patients with SCA1, 11 patients with SCA6, and 3 patients with SCA10 were also evaluated, and none of them presented chorea. We provide a brief report of the three cases, with a video demonstrating chorea. Although a debate regarding the frequency of chorea in SCA patients is a fact, its occurrence, together with the autosomal dominant pattern of inheritance, clearly imposes SCA in the differentials of Huntington-like syndromes. There is some debate about what to include in a list of Huntington-like disorders, with several review articles about Huntington-like syndromes not including SCA in the differential diagnosis, except for SCA17. We believe that SCAs at least. SCA1, SCA2, SCA3/MJD, SCA7 and DRPLA should be thought in the diagnostic workout of at least the atypical cases, such as those presented in this report. (C) 2014 Elsevier B.V. All rights reserved.Universidade Federal de São Paulo, Dept Neurol, Ataxia Unit, São Paulo, BrazilHosp Clin Porto Alegre, Dept Biochem, Porto Alegre, RS, BrazilHosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilHosp Clin Porto Alegre, Dept Internal Med, Porto Alegre, RS, BrazilUniversidade Federal de São Paulo, Dept Neurol, Ataxia Unit, São Paulo, BrazilWeb of Scienc