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Abstract Frontal ataxia, originally described by Bruns, is characterized by the presence of signs of frontal lobe dysfunction, such as perseveration, paratonia, frontal release signs, cognitive changes, and urinary difficulty, associated with imbalance, slow gait, broad-based, the presence of postural instability and falls, retropulsion, and bradykinesia in the lower limbs. The goal of the present study is to recall the historical aspects of this condition, to draw attention to the importance of this clinical finding for the differential diagnosis of ataxias and to review the main semiological differences between primary ataxias (frontal, cerebellar, and sensory ataxia).

Resumo A ataxia frontal, originalmente descrita por Bruns, caracteriza-se pela presença de sinais de disfunção do lobo frontal, como perseveração, paratonia, sinais de liberação frontal, alterações cognitivas e dificuldade urinária, associados a desequilíbrio, marcha lenta, base ampla, presença de instabilidade postural e quedas, retropulsão e bradicinesia em membros inferiores. O objetivo do presente trabalho é recordar os aspectos históricos desta condição, ressaltar a importância deste achado clínico para o diagnóstico diferencial das ataxias e revisar as principais diferenças semiológicas entre as ataxias primárias (ataxia frontal, cerebelar e sensitiva).

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Background: The spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative diseases characterized by cerebellar ataxia. Classified according to gene discovery, specific features of the SCAs - clinical, laboratorial, and neuroradiological (NR) - can facilitate establishing the diagnosis. The purpose of this study was to review the particular NR abnormalities in the main SCAs. Methods: We conducted a literature search on this topic. Results: The main NR characteristics of brain imaging (magnetic resonance imaging or computerized tomography) in SCAs were: (1) pure cerebellar atrophy; (2) cerebellar atrophy with other findings (e.g., pontine, olivopontocerebellar, spinal, cortical, or subcortical atrophy; "hot cross bun sign", and demyelinating lesions); (3) selective cerebellar atrophy; (4) no cerebellar atrophy. Discussion: The main NR abnormalities in the commonest SCAs, are not pathognomonic of any specific genotype, but can be helpful in limiting the diagnostic options. We are progressing to a better understanding of the SCAs, not only genetically, but also pathologically; NR is helpful in the challenge of diagnosing the specific genotype of SCA.

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The rapid onset of a bilateral vestibular hypofunction (BVH) is often attributed to vestibular ototoxicity. However, without any prior exposure to ototoxins, the idiopathic form of BVH is most common. Although sequential bilateral vestibular neuritis (VN) is described as a cause of BVH, clinical evidence for simultaneous and acute onset bilateral VN is unknown. We describe a patient with an acute onset of severe gait ataxia and oscillopsia with features compatible with acute BVH putatively due to a bilateral VN, which we serially evaluated with clinical and laboratory vestibular function testing over the course of 1 year. Initially, bilateral superior and horizontal semicircular canals and bilateral utricles were impaired, consistent with damage to both superior branches of each vestibular nerve. Hearing was spared. Only modest results were obtained following 6 months of vestibular rehabilitation. At a 1-year follow-up, only the utricular function of one side recovered. This case is the first evidence supporting an acute presentation of bilateral VN as a cause for BVH, which would not have been observed without critical assessment of each of the 10 vestibular end organs.

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OBJECTIVE: To assess vestibular function in patients with familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy - caused by a mutation in the IKBKAP gene (c.2204 + 6 T>C) - and characterized by marked gait ataxia. METHODS: Cervical and vestibular evoked myogenic potentials (cVEMPs and oVEMPs) were recorded from the sternocleidomastoid (SCM) and extraocular muscles in 14 homozygous patients, 2 heterozygous patients, and 15 healthy controls during percussion of the forehead. RESULTS: cVEMP and oVEMP amplitudes were significantly lower, and peak latencies significantly delayed, in the FD patients. There were no differences in overall EMG during attempted maximal voluntary contractions of the SCM muscle, suggesting intact efferent function. The two heterozygotes with a minor haplotype missense (R696P) mutation in exon 19 of the IKBKAP gene had cVEMP responses less affected than the homozygous. CONCLUSIONS: The founder mutation in the IKBKAP gene affects the development of vestibular afferent pathways, leading to attenuated cVEMPs. SIGNIFICANCE: Vestibular abnormalities may contribute to the gait ataxia in FD.

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BACKGROUND: Subependymomas are rare benign, noninvasive tumors, classified by the World Health Organization as low grade neoplasms. International data estimate their frequency between 0.2% and 0.7% of the intracranial tumors, and they usually are an incidental finding in autopsies. Preferably located in the fourth ventricle, these tumors tend to become symptomatic when they cause hydrocephalous by obstructing cerebrospinal fluid circulation. CASE PRESENTATION: We present the case of a morbidly obese, hypertense, and diabetic patient, who presented with symptoms of gait ataxia, sphincter incontinence, and dysartria in relation to a pedunculated subependymoma in the left lateral ventricle. He underwent a biparietal craniotomy with a microscopic microsurgical approach, through which gross total resection was achieved. No perioperative complications ensued. CONCLUSIONS: Given their benign behavior and their excellent response to surgical treatment, subependymomas should be promptly diagnosed and surgically treated to avoid possible neurological damage when they become symptomatic.

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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.

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Hemi paretic ataxia (HA) is a lacunars syndrome that presents with motor deficit and pyramidalism associated to ipsilateral ataxia out of proportion to such deficit. Topography of lesions is wide and acute infarcts have been recognized at the infernal capsule, pons, thalamus, corona radiate and cortex. Symptoms are associated to involvement of pyramidal and corticopontocerebellar tracts. We report a 44-year-old mole presenting with right hemi paresis and severe ataxia. The magnetic resonance imaging showed a sub acute infarction of the left lenticular nucleus and infernal capsule. The patient was treated with physiotherapy, anti platelet agents and statins and was discharged with an evident recovery.

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A Ataxia de Friedreich é uma doença neurodegenerativa progressiva, de herança autossômica recessiva, que foi descrita pela primeira vez por Nicholaus Friedreich, em 1863. A mutação responsável por essa doença se encontra no cromossomo nove, onde ocorre uma expansão de trinucleotídios GAA. O gene afetado tem a função de codificar a proteína mitocondrial frataxina, que está envolvida no metabolismo do ferro. O principal sintoma é a ataxia (coordenação prejudicada), que, no início, é mais evidente nos membros inferiores e, posteriormente, atinge os membros superiores. Este estudo teve por objetivo relatar um caso de Ataxia de Friedreich, uma doença genética rara de caráter degenerativo que, ao contrário do prognóstico esperado, se manifestou mais tardiamente no indivíduo afetado. Este trabalho também descreve a evolução clínica, enfocando os sintomas e deficiências que o paciente apresentou antes e após o diagnóstico, bem como, discute as bases moleculares que podem ter contribuído para a manifestação tardia da doença, além dos tratamentos emergentes.

The Friedreich?s ataxia is a progressive neurodegenerative disease with autosomal recessive inheritance, which was first described by Nicholaus Friedreich in 1863. The mutation responsible for this disease is located on chromosome nine, where there is a GAA trinucleotide expansion repeats. The affected gene function is to encode the mitochondrial protein frataxin, which is involved in the iron metabolism. The main symptom is ataxia (impaired coordination), which at first is more evident in the lower limbs and eventually reaches the upper limbs. This study aimed to report a case of Friedreich?s Ataxia, a rare genetic disease with degenerative characteristic that manifested itself later in the affected individual unlike the expected outcome. This paper also describes the clinical course, focusing on the symptoms and disabilities that the patient presented before and after diagnosis, and also discusses the molecular basis that may have contributed to the late-onset of the disease besides the emerging treatments.

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O objetivo da pesquisa foi avaliar o efeito do uso do peso em membros inferiores durante a marcha, nos indivíduos com ataxia. Acredita-se que o peso em membros inferiores traz benefícios na qualidade da marcha nos pacientes atáxicos, alterando a programação motora e conexões neurais cerebelares que são possíveis de alterações na aprendizagem motora. Divididos aleatoriamente, 21 indivíduos em 2 grupos: com peso (GP n=10) e sem peso (SP n=11). Todos realizaram 20 sessões de fisioterapia, avaliados antes (primeira avaliação), depois do tratamento (segunda) e após 30 dias (terceira), através das escalas de Equilíbrio de Berg, Dynamic Gait Index, Equiscale, International Cooperative Ataxia Rating Scale e Medida de Independência Funcional. Foi utilizada a análise ANOVA para medidas repetidas para comparar a evolução das variáveis ao longo do tempo, com nível de significância p ? 0.05. Os indivíduos do GP conseguiram melhores resultados após o tratamento quanto ao equilíbrio, coordenação e independência funcional comparados ao SP, sendo estatisticamente significantes. O GP conseguiu manter o ganho da primeira para a terceira avaliação demonstrada por quase todas as escalas, exceto a DGI. O estudo comprovou a efetividade do peso, melhorando o equilíbrio estático e dinâmico, coordenação da marcha e independência funcional.

The object of this research was to evaluate the effect of ataxia sufferers using weights on the lower members while walking. It is believed that weights on lower members benefits the gait quality of ataxia patients, altering the motor programming and neural connections in the cerebellum that are alterable in motor learning. Twenty-one individuals were randomly divided into two groups: with weights (GP n=10) and without weights (SP n=11). Everyone did 20 sessions of physiotherapy and were evaluated before (first evaluation), after treatment (second evaluation), and after 30 days (third evaluation), by means of the Berg Balance, Dynamic Gait Index, Equiscale, International Cooperative Ataxia Rating Scale, Functional Independence Measure. The ANOVA analysis was used for repeated measurements to compare the evolution of variables over time, with a significance level of p ? 0.05. After treatment and with statistical significance, the GP individuals managed better results with balance, coordination, and functional independence than those without weights. The GP group managed to maintain the benefit from the first through third evaluations on all scales except the DGI. The study proved the effectiveness of weights in improving the static and dynamic balance, the gait coordination, and functional independence.

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