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

Espectro clinico da ataxia cerebelar de inicio precoce com reflexos mantidos: uma ataxia autossomica recessiva para nao ser esquecida

Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper limb reflexes and knee jerks was described. This disorder is known as early onset cerebellar ataxia with retained tendon reflexes. In this article, we aimed to call attention for the diagnosis of early onset cerebellar ataxia with retained tendon reflexes as the second most common cause of autosomal recessive cerebellar ataxias, after Friedreich ataxia, and also to perform a clinical spectrum study of this syndrome. In this data, 12 patients from different families met all clinical features for early onset cerebellar ataxia with retained tendon reflexes. Dysarthria and cerebellar atrophy were the most common features in our sample. It is uncertain, however, whether early onset cerebellar ataxia with retained tendon reflexes is a homogeneous disease or a group of phenotypically similar syndromes represented by different genetic entities. Further molecular studies are required to provide definitive answers to the questions that remain regarding early onset cerebellar ataxia with retained tendon reflexes.As ataxias cerebelares autossômicas recessivas são um grupo heterogêneo de doenças neurológicas. Em 1981, foi descrita uma entidade neurológica incluindo ataxia cerebelar progressiva de início precoce, disartria, liberação piramidal e manutenção ou aumento dos reflexos tendíneos nos membros superiores e inferiores. Essa síndrome é conhecida como ataxia cerebelar de início precoce com reflexos mantidos. Neste artigo, o objetivo foi chamar a atenção para o diagnóstico de ataxia cerebelar de início precoce com reflexos mantidos como a segunda causa mais comum de ataxia cerebelar autossômica recessiva, após a ataxia de Friedreich, e também realizar um estudo do espectro clínico da síndrome. Doze pacientes de diferentes famílias preencheram os critérios clínicos para ataxia cerebelar de início precoce com reflexos mantidos. Disartria e atrofia cerebelar foram as características mais frequentes. No entanto, não há consenso se a ataxia cerebelar de início precoce com reflexos mantidos é uma doença homogênea ou um grupo de síndromes com fenótipos semelhantes representadas por diferentes entidades genéticas. Estudos moleculares futuros são necessários para fornecer respostas definitivas para as questões pendentes em relação à ataxia cerebelar de início precoce com reflexos mantidos.Universidade Federal de São Paulo (UNIFESP) Department of Neurology, Ataxia UnitUNIFESP, Department of Neurology, Ataxia UnitSciEL

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

Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed Espectro clínico da ataxia cerebelar de início precoce com reflexos mantidos: uma ataxia autossômica recessiva para não ser esquecida

Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper limb reflexes and knee jerks was described. This disorder is known as early onset cerebellar ataxia with retained tendon reflexes. In this article, we aimed to call attention for the diagnosis of early onset cerebellar ataxia with retained tendon reflexes as the second most common cause of autosomal recessive cerebellar ataxias, after Friedreich ataxia, and also to perform a clinical spectrum study of this syndrome. In this data, 12 patients from different families met all clinical features for early onset cerebellar ataxia with retained tendon reflexes. Dysarthria and cerebellar atrophy were the most common features in our sample. It is uncertain, however, whether early onset cerebellar ataxia with retained tendon reflexes is a homogeneous disease or a group of phenotypically similar syndromes represented by different genetic entities. Further molecular studies are required to provide definitive answers to the questions that remain regarding early onset cerebellar ataxia with retained tendon reflexes.As ataxias cerebelares autoss&#244;micas recessivas s&#227;o um grupo heterog&#234;neo de doen&#231;as neurol&#243;gicas. Em 1981, foi descrita uma entidade neurol&#243;gica incluindo ataxia cerebelar progressiva de in&#237;cio precoce, disartria, libera&#231;&#227;o piramidal e manuten&#231;&#227;o ou aumento dos reflexos tend&#237;neos nos membros superiores e inferiores. Essa s&#237;ndrome &#233; conhecida como ataxia cerebelar de in&#237;cio precoce com reflexos mantidos. Neste artigo, o objetivo foi chamar a aten&#231;&#227;o para o diagn&#243;stico de ataxia cerebelar de in&#237;cio precoce com reflexos mantidos como a segunda causa mais comum de ataxia cerebelar autoss&#244;mica recessiva, ap&#243;s a ataxia de Friedreich, e tamb&#233;m realizar um estudo do espectro cl&#237;nico da s&#237;ndrome. Doze pacientes de diferentes fam&#237;lias preencheram os crit&#233;rios cl&#237;nicos para ataxia cerebelar de in&#237;cio precoce com reflexos mantidos. Disartria e atrofia cerebelar foram as caracter&#237;sticas mais frequentes. No entanto, n&#227;o h&#225; consenso se a ataxia cerebelar de in&#237;cio precoce com reflexos mantidos &#233; uma doen&#231;a homog&#234;nea ou um grupo de s&#237;ndromes com fen&#243;tipos semelhantes representadas por diferentes entidades gen&#233;ticas. Estudos moleculares futuros s&#227;o necess&#225;rios para fornecer respostas definitivas para as quest&#245;es pendentes em rela&#231;&#227;o &#224; ataxia cerebelar de in&#237;cio precoce com reflexos mantidos.</p

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

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