Navegando por Palavras-chave "Ataxia"
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- ItemSomente MetadadadosConsensus Paper: Radiological Biomarkers of Cerebellar Diseases(Springer, 2015-04-01) Baldarcara, Leonardo [UNIFESP]; Currie, Stuart; Hadjivassiliou, M.; Hoggard, Nigel; Jack, Allison; Jackowski, Andrea P. [UNIFESP]; Mascalchi, Mario; Parazzini, Cecilia; Reetz, Kathrin; Righini, Andrea; Schulz, Joerg B.; Vella, Alessandra; Webb, Sara Jane; Habas, Christophe; Fed Univ Tocantins; Universidade Federal de São Paulo (UNIFESP); Univ Sheffield; Royal Hallamshire Hosp; Yale Univ; Univ Florence; Meyer Children & Careggi Hosp Florence; Childrens Hosp Buzzi; RWTH Aachen Univ Hosp; Forschungszentrum Julich; Julich Aachen Res Alliance JARA; Univ Hosp Siena; Univ Washington; CHNO Quinze VingtsHereditary and sporadic cerebellar ataxias represent a vast and still growing group of diseases whose diagnosis and differentiation cannot only rely on clinical evaluation. Brain imaging including magnetic resonance (MR) and nuclear medicine techniques allows for characterization of structural and functional abnormalities underlying symptomatic ataxias. These methods thus constitute a potential source of radiological biomarkers, which could be used to identify these diseases and differentiate subgroups of them, and to assess their severity and their evolution. Such biomarkers mainly comprise qualitative and quantitative data obtained from MR including proton spectroscopy, diffusion imaging, tractography, voxel-based morphometry, functional imaging during task execution or in a resting state, and from SPETC and PET with several radiotracers. in the current article, we aim to illustrate briefly some applications of these neuroimaging tools to evaluation of cerebellar disorders such as inherited cerebellar ataxia, fetal developmental malformations, and immune-mediated cerebellar diseases and of neurodegenerative or early-developing diseases, such as dementia and autism in which cerebellar involvement is an emerging feature. Although these radiological biomarkers appear promising and helpful to better understand ataxia-related anatomical and physiological impairments, to date, very few of them have turned out to be specific for a given ataxia with atrophy of the cerebellar system being the main and the most usual alteration being observed. Consequently, much remains to be done to establish sensitivity, specificity, and reproducibility of available MR and nuclear medicine features as diagnostic, progression and surrogate biomarkers in clinical routine.
- ItemAcesso aberto (Open Access)Influência do treino de marcha com órtese robótica em indivíduos com ataxia pós acidente vascular cerebral(Universidade Federal de São Paulo (UNIFESP), 2018-02-15) Santos, Marcia Belas dos [UNIFESP]; Arida, Ricardo Mario [UNIFESP]; http://lattes.cnpq.br/8352745170435172; Universidade Federal de São Paulo (UNIFESP)O treino de marcha com assistência robótica (TMAR) tem sido descrito como uma opção valiosa no tratamento de reabilitação de indivíduos acometidos por acidente vascular cerebral (AVC). Poucos estudos têm verificado os efeitos da reabilitação em indivíduos com desordens do movimento, especificamente ataxia e nenhum deles associou o TMAR em pacientes crônicos com sequela de AVC Objetivos: Avaliar a influência do TMAR associado a fisioterapia no equilíbrio, coordenação motora e independência funcional nas atividades de vida diária de indivíduos com ataxia pós AVC. Métodos: Total de quinze indivíduos foram alocados em dois grupos, treino de marcha realizado no solo (TMRS) e TMAR. Ambos os grupos receberam três sessões de fisioterapia por semana associando-se exercícios prescritos para casa. O grupo TMRS foi submetido a treino de marcha realizado no solo, já o grupo TMAR o treino de marcha foi assistido com equipamento robótico. O tempo estimado de cada sessão foi de 60 minutos, por um período de cinco meses. As seguintes escalas funcionais para avaliação foram aplicadas: escala de equilíbrio de Berg, teste Timed Up and Go (TUG), medida de independência funcional (MIF), e a escala para avaliação e graduação de ataxia SARA, respectivamente em dois momentos antes e após completarem o protocolo de treino proposto. Resultados: Após completarem o protocolo de treino estabelecido, ambos os grupos evidenciaram melhora estatisticamente significante (p< 0,05) no equilíbrio, execução nas atividades de vida diária e sequelas gerais decorrentes da ataxia. Não foram encontrados diferença estatística (p < 0,05) quando realizado comparação entre os grupos, indicando que ambos os protocolos foram benéficos na reabilitação de indivíduos acometidos por AVC com sequela de ataxia. Conclusão: Indivíduos acometidos por AVC com sequela de ataxia em fase crônica de reabilitação apresentaram melhora significativa no equilíbrio, independência funcional geral nas atividades de vida diária quando submetidos a treino de marcha com ou sem assistência robótica associado a orientações para domicílio. No entanto, quando comparado ambos os grupos não foi encontrado diferença estatisticamente significante.
- ItemSomente MetadadadosNonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes(Springer, 2017) Martinez, Alberto R. M.; Moro, Adriana; Abrahao, Agessandro [UNIFESP]; Faber, Ingrid; Borges, Conrado R.; Rezende, Thiago J. R.; Martins, Carlos R., Jr.; Moscovich, Mariana; Munhoz, Renato P.; Segal, Sandra Leistner; Arruda, Walter O.; Saraiva-Pereira, Maria Luiza; Karuta, Simone; Pedroso, Jose Luiz [UNIFESP]; D'Abreu, Anelyssa; Jardim, Laura B.; Lopes-Cendes, Iscia; Barsottini, Orlando G. [UNIFESP]; Teive, Helio A. G.; Franca, Marcondes C., Jr.Friedreich's ataxia (FDRA) is the most common inherited ataxia worldwide, caused by homozygous GAA expansions in the FXN gene. Patients usually have early onset ataxia, areflexia, Babinski sign, scoliosis and pes cavus, but at least 25 % of cases have atypical phenotypes. Disease begins after the age of 25 in occasional patients (late-onset Friedreich ataxia (LOFA)). Little is known about the frequency and clinical profile of LOFA patients. One hundred six patients with molecular confirmation of FDRA and followed in three Brazilian outpatient centers were enrolled. General demographics, GAA expansion size, age at onset, cardiac, endocrine, and skeletal manifestations were evaluated and compared between LOFA and classic FDRA (cFDRA) groups. We used Mann-Whitney and Fisher tests to compare means and proportions between groups
- ItemSomente MetadadadosProposta de um programa de terapia fonoaudiológica em pacientes com ataxia espinocerebelar tipo 3(Universidade Federal de São Paulo (UNIFESP), 2020-09-22) Diaferia, Giovana Lucia Azevedo [UNIFESP]; Barsottini, Orlando Graziani Povoas [UNIFESP]; Universidade Federal de São PauloSpinocerebellar ataxia type 3 (SCA3) is a degenerative disease that is inherited in an autosomal dominant pattern. It is caused by a mutation located on the chromosome 14q resulting in abnormal CAG triplet repeats. It affects different population groups with an estimated prevalence of 1:100,000 in Brazil. This disease usually manifests between 30 and 50 years of age and first symptoms include ataxia, gait disturbance and abnormal ocular motricity. The degenerative process underlying SCA3 affects many different regions and/or functions of the central nervous system (CNS) and the peripheral nervous system (PNS) including areas and pathways that are involved in motor speech and swallowing. With progression of the disease, individuals with SCA3 exhibit communication and swallowing deterioration. Speech-language interventions for speech, voice and swallowing problems are important because patients with difficulty swallowing are at risk of repeated aspiration and dysarthria affects normal socialization. Objectives: To evaluate the impact of a speech therapy rehabilitation program on phonoarticulation, voice, swallowing and quality of life (QoL) of patients with SCA3. Methods: All participants were randomly assigned to two groups, an intervention group receiving speech therapy (STG) and a control group (CG). The intervention comprised a 12-session speech therapy rehabilitation program consisting of oral, pharyngeal and laryngeal strengthening exercises—so-called ATAXIA – Myofunctional Orofacial and Vocal Therapy (A-MOVT). All participants underwent pre- and post-intervention clinical evaluations using a phonoarticulation assessment tool developed by the Mayo Clinic; nasofibrolaryngoscopy; videoendoscopic swallowing study; and orofacial motricity assessment based on Expanded Protocol of Orofacial Myofunctional Evaluation with Scores (OMES). They were also assessed by four different QoL instruments: The World Health Organization's Quality of Life (WHOQoL-Bref); Living with Dysarthria, (LwD); Quality of Life in Swallowing Disorders (SWAL-QoL); and EAT-10 Food Assessment Tool. Results: The study sample included 48 patients with SCA3 (STG = 25; CG = 23), 33 (69%) females and 15 (31%) males; mean age 47.1±11.4 years; mean age at symptom onset 36.9±11.3 years; and disease duration 11.9±13.3 years. The International Cooperative Ataxia Rating Scale (ICARS) scores were 32.4±20.2 and the Scale for the Assessment and Rating of Ataxia (SARA) scores were 11.8±8.0. At the end of the three-month intervention, the STG showed significant improvements in dysphagia (0.56±0.87 [pre-] vs. 0.00±0.00 [post-]; p<0.001); dysarthria (1.92±0.27 [pre-] vs. 0.84±0.62 [post-], p<0.001); and orofacial motricity (153.00±16.12 [pre-] vs. 205.44±27.55 [post-], p<0.001). There were significant changes in the QoL in the STG compared to the CG when assessed by the LwD (179.12±62.55 vs. 129.88±51.42, p<0.001), SWAL-QoL (79.04±13.97 vs. 82.87±11.91, p=0.010) and EAT-10 (5.16±7.55 vs. 2.08±3.85, p=0.018). Conclusions: Patients with SCA3 should receive continuous speech therapy as part of the A-MOVT program since rehabilitation therapy improves difficulty swallowing and dysarthria.
- ItemSomente MetadadadosRapid Eye Movement Sleep Behavior Disorder in Paraneoplastic Cerebellar Degeneration: Improvement with Immunotherapy(Amer Acad Sleep Medicine, 2016) Vale, Thiago Cardoso; Prado, Lucila Bizari Fernandes do [UNIFESP]; Prado, Gilmar Fernandes do [UNIFESP]; Barsottini, Orlando Graziani Povoas [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Study Objectives: To report two female patients with paraneoplastic cerebellar degeneration (PCD) related to breast cancer that presented with rapid eye movement-sleep behavior disorder (RBD) and improved sleep symptoms with immunotherapy. Methods: The two patients were evaluated through clinical scale and polysomnography before and after therapy with intravenous immunoglobulin. Results: RBD was successfully treated with immunotherapy in both patients. Score on the RBD screening questionnaire dropped from 10 to 1 or 0, allied with the normalization of polysomnographic findings. Conclusions: A marked improvement in RBD after immunotherapy in PCD raises the hypothesis that secondary RBD may be an immune-mediated sleep disorder.
- ItemSomente MetadadadosRapid Eye Movement Sleep Behavior Disorder in Paraneoplastic Cerebellar Degeneration: Improvement with Immunotherapy(Amer Acad Sleep Medicine, 2016) Vale, Thiago Cardoso; Fernandes do Prado, Lucila Bizari [UNIFESP]; do Prado, Gilmar Fernandes [UNIFESP]; Povoas Barsottini, Orlando Graziani [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]Study Objectives: To report two female patients with paraneoplastic cerebellar degeneration (PCD) related to breast cancer that presented with rapid eye movement-sleep behavior disorder (RBD) and improved sleep symptoms with immunotherapy. Methods: The two patients were evaluated through clinical scale and polysomnography before and after therapy with intravenous immunoglobulin. Results: RBD was successfully treated with immunotherapy in both patients. Score on the RBD screening questionnaire dropped from 10 to 1 or 0, allied with the normalization of polysomnographic findings. Conclusions: A marked improvement in RBD after immunotherapy in PCD raises the hypothesis that secondary RBD may be an immune-mediated sleep disorder.
- ItemSomente MetadadadosSPG7 with parkinsonism responsive to levodopa and dopaminergic deficit(Elsevier Sci Ltd, 2018) Pedroso, Jose Luiz [UNIFESP]; Vale, Thiago Cardoso; Bueno, Fabiana Lucas; Rocha Marussi, Victor Hugo; Faria do Amaral, Lazar Luis; Franca, Marcondes C., Jr.; Barsottini, Orlando G. [UNIFESP]We report a 55-year-old woman with a long history of a gait disturbance that was followed by dysarthria and urinary incontinence. She underwent brain MRI, SPECT with TRODAT imaging and whole-exome sequencing, revealing the diagnosis of SPG7. She developed parkinsonism responsive to levodopa, expanding the phenotype of complex SPG7. (C) 2017 Elsevier Ltd. All rights reserved.
- ItemSomente MetadadadosSpinal Cord Damage in Spinocerebellar Ataxia Type 1(Springer, 2017) Martins, Carlos Roberto, Jr.; Muro Martinez, Alberto Rolim; Ribeiro de Rezende, Thiago Junqueira; Teixeira Branco, Lucas Melo; Pedroso, Jose Luiz [UNIFESP]; Barsottini, Orlando G. P. [UNIFESP]; Lopes-Cendes, Iscia; Franca, Marcondes C., Jr.Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder caused by a CAG repeat expansion, characterized by progressive cerebellar ataxia and pyramidal signs. Non-motor and extracerebellar symptoms may occur. MRI-based studies in SCA1 focused in the cerebellum and connections, but there are no data about cord damage in the disease and its clinical relevance. To evaluate in vivo spinal cord damage in SCA1, a group of 31 patients with SCA1 and 31 age- and gender-matched healthy controls underwent MRI on a 3T scanner. We used T1-weighted 3D images to estimate the cervical spinal cord area (CA) and eccentricity (CE) at three C2/C3 levels based on a semi-automatic image segmentation protocol. The scale for assessment and rating of ataxia (SARA) was used to quantify disease severity. The groups were significantly different regarding CA (47.26 +/- 7.4 vs. 68.8 +/- 5.7 mm2, p < 0.001) and CE values (0.803 +/- 0.044 vs. 0.774 +/- 0.043, p < 0.05). Furthermore, in the patient group, CA presented significant correlation with SARA scores (R = -0.633, p < 0.001) and CAGn expansion (R = -0.658, p < 0.001). CE was not associated with SARA scores (p = 0.431). In the multiple variable regression, CA was strongly associated with disease duration (coefficient -0.360, p < 0.05) and CAGn expansion (coefficient -1.124, p < 0.001). SCA1 is characterized by cervical cord atrophy and anteroposterior flattening. Morphometric analyses of the spinal cord MRI might be a useful biomarker in the disease.