Variant ataxia telangiectasia identified during evaluation for short stature.

Ataxia telangiectasia (A-T) (OMIM 208900) is an autosomal recessive multisystem disorder characterised by progressive cerebellar ataxia, telangiectasias, immunodeficiency and a predisposition to malignancy. 'Variant' A-T has later onset of neurological symptoms and slower progression compared with the 'classic' form. A woman presented with short stature in late childhood. Karyotype revealed rearrangements involving chromosomes 7 and 14. A chromosomal breakage disorder gene panel demonstrated compound heterozygote mutations in her ATM gene including one mutation c.7271T>G with residual ATM function, confirming the diagnosis of variant A-T. Since diagnosis, she has developed progressive cerebellar ataxia and telangiectasias. Long-standing restrictive and aversive feeding behaviours presented challenges for her management and necessitated gastrostomy.

Cerebellar progressive multifocal leucoencephalopathy identified by the shrimp sign.

Progressive multifocal leucoencephalopathy (PML) is a demyelinating disease caused by the John Cunningham (JC) virus, which may get reactivated under certain immunosuppressive states such as AIDS, immunomodulatory therapy and haematological malignancies. PML has been reported rarely even in immunocompetent individuals where no immunodeficiency was present. PML characteristically involves periventricular and juxtacortical white matter. Isolated cerebellar or brainstem PML may be seen rarely. We present a case of a man in his 70s who presented with rapidly progressive cerebellar ataxia, ptosis and bipyramidal signs. Investigations excluded a direct viral cerebellar infection, acute disseminated encephalomyelitis, paraneoplastic cerebellar degeneration or any structural cerebellar lesion. MRI PET study revealed the classical shrimp sign which raised the possibility of cerebellar PML, and the same was confirmed by a positive JC virus PCR in the cerebrospinal fluid. Our patient had no known immune-compromising state, but further workup revealed a low CD4 count suggestive of idiopathic CD4 lymphopenia. The case illustrates the importance of the shrimp sign on MRI, the possibility of cerebellar involvement of PML as well as the need to consider a differential diagnosis of PML even in individuals with no obvious immunocompromised state.

Anesthetic Management of a Patient With Spinocerebellar Ataxia Type 1.

Spinocerebellar ataxia type 1 (SCA1) is one of the autosomal dominant spinocerebellar degeneration (SCD) diseases characterized by progressive cerebellar ataxia, muscle atrophy, and peripheral neuropathy. We report the management of a 43-year-old man with SCA1 who underwent general anesthesia for open reduction and internal fixation of a mandibular fracture. Although anesthesia-induced vocal cord paralysis has been reported in patients with SCD, nasotracheal intubation was performed uneventfully with video laryngoscope. After taking into consideration the increased risk of postoperative respiratory depression in patients with SCD, rocuronium dosing was titrated carefully, and fentanyl was not used during surgery. Preparation for an anticipated difficult airway and avoiding significant respiratory depression are crucial when providing general anesthesia for patients with SCA1.

Bibliometría y mapeo de redes de la producción científica internacional de Cuba sobre ataxias (1993-2020) / Bibliometrics and network mapping of Cuban international scientific production on ataxias (1993-2020)

El objetivo del estudio fue caracterizar el potencial investigador cubano en el ámbito de las ataxias y su evolución temporal. Se realizó una búsqueda en la base de datos Web of Science y se obtuvieron todos los documentos publicados entre 1993 y 2020. Se aplicaron indicadores bibliométricos para explorar la producción, dispersión, distribución y crecimiento anual de los documentos (ley de Price, ley de Lotka, índice de transitoriedad y modelo de Bradford). Se calculó el índice de participación y colaboración de países e instituciones y, por cartografía bibliométrica, se exploraron las redes de coocurrencia de los términos más utilizados. La producción científica de Cuba sobre ataxias hereditarias es alta (219 documentos) y se ajusta a un crecimiento lineal (r= 0,7580). El período estudiado concentra el 47,95 por ciento de los registros con un ritmo anual de publicaciones del 6,6 por ciento y tiempo de duplicidad de 10,8 años. El total de citas fue de 3807 (índice medio: 131,27; índice -h: 31). Se concluye que el crecimiento de la literatura científica cubana sobre ataxias fue lineal para el período estudiado, lo que confirma el incumplimiento de la ley de Price de crecimiento de la literatura científica. El estudio también corrobora la importante red de integración y cooperación internacional entre los diferentes autores y la interdisciplinariedad de los trabajos, evidencia del éxito del Centro para la Investigación y Rehabilitación de las Ataxias Hereditarias (CIRAH), al planificar una estrategia de colaboración científica con objetivos definidos(AU)

The objective of this study was to characterize the Cuban research potential in the field of ataxias and its temporal evolution. A search was carried out in the Web of Science database and all the documents published from 1993 to 2020 were retrieved. Bibliometric indicators were applied to explore the production, dispersion, distribution and annual growth of the documents (Price's law, Lotka's law, transience index and Bradford model). The participation and collaboration index of countries and institutions was calculated and, through bibliometric cartography, the co-occurrence networks of the most used terms were explored. The Cuban scientific production on hereditary ataxias is high (219 documents) and it adjusts to a linear growth (r = 0.7580). The period studied concentrates 47.95percent of the records with an annual publication rate of 6.6percent and 10.8 years' duplication time. The total number of citations was 3807 (mean index: 131.27; h-index: 31). Growth of the Cuban scientific literature on ataxias was concluded to be linear for the period studied, which confirms the non-compliance with Price's law of growth of scientific literature. The study also corroborates the important network of integration and international cooperation among the different authors and the interdisciplinarity of the papers, marking the success of the Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH), when planning a strategy of scientific collaboration with objectives defined(AU)

Proposta de aplicação da comunicação alternativa para paciente com doença neurodegenerativa e seu impacto na qualidade vida: relato de caso / Proposal of application of alternative communication for patient with neurodegenerative disease and its impact on quality of life: case report / Propuesta de aplicación de comunicación alternativa para paciente com enfermedad neurodegenerativa y su impacto en la calidad de vida: caso clínico

Trata-se de um relato de caso de um indivíduo do sexo masculino com 51 anos, nível superior completo, nível socioeconômico favorável, diagnosticado em 1999 com Ataxia de Friedreich. Chega ao ambulatório de Fonoaudiologia, com ênfase no atendimento de adultos com doenças degenerativas, sob encaminhamento da equipe de genética do serviço do mesmo hospital. Ao exame fonoaudiológico diagnostica-se uma disfagia orofaríngea de moderada a grave e uma disartria grave. A disfagia é reabilitada via home care particular por opção do paciente, e no ambulatório, com objetivo de melhora da qualidade de vida criou-se uma proposta de aplicação da comunicação aumentativa e/ou alternativa para o desenvolvimento das habilidades de comunicação do paciente que já não estava mais se expressando. Foram realizadas duas avaliações (pré e pós terapia) e quatro sessões de intervenção terapêutica para o aprendizado e implementação da prancha de comunicação alternativa. Ao término do processo terapêutico verificou-se baixa adesão ao uso da comunicação aumentativa e/ou alternativa, mesmo com a auto-percepção da ininteligibilidade da sua fala, utilizando a pasta restrita ao atendimento fonoaudiológico. Tanto o paciente quanto seus acompanhantes referiram que mesmo após várias tentativas houve negação ao uso da comunicação alternativa. Embora tenham sido poucas sessões, não houve impacto da qualidade de vida do paciente após uso da comunicação aumentativa e/ou alternativa.

Este es un informe del caso de un hombre de 51 años, con educación universitaria completa, estatus socioeconómico favorable, diagnosticado en 1999 con ataxia de Friedreich. Llega a la clínica de terapia del habla, con énfasis en ayudar a adultos con enfermedades degenerativas, bajo la guía del equipo de genética al servicio del mismo hospital. El examen notas la disfagia orofaríngea moderada a severa y la disartria severa. La disfagia se rehabilita mediante atención domiciliaria privada a elección del paciente y en la clínica ambulatoria con el objetivo de mejorar la calidad de vida, se creó una propuesta para la aplicación de comunicación aumentativa y/o alternativa para desarrollar las habilidades de comunicación del paciente que ya no era más expresándose a sí mismos. Se realizaron dos evaluaciones (pre y post terapia) y cuatro sesiones de intervención terapéutica para aprender e implementar el tablero de comunicación alternativo. Al final del proceso terapéutico, hubo una baja adherencia al uso de comunicación aumentativa y/o alternativa, incluso con la autopercepción de la ininteligibilidad de su discurso, usando la carpeta restringida a la terapia del habla. Tanto el paciente como sus compañeros informaron que incluso después de varios intentos hubo una negación del uso de comunicación alternativa. Aunque hubo pocas sesiones, no hubo impacto en la calidad de vida del paciente después de usar comunicación aumentativa y/o alternativa.

This is a case report of a 51-year-old male, with complete college education, favorable socioeconomic status, diagnosed in 1999 with Friedreich's Ataxia. He arrives at the speech therapy clinic, with an emphasis on assisting adults with degenerative diseases, under the guidance of the genetics team at the service of the same hospital. Speech examination examines moderate to severe oropharyngeal dysphagia and severe dysarthria. Dysphagia is rehabilitated via private home care at the patient's option and in the outpatient clinic with the objective of improving quality of life, a proposal for the application of augmentative and/or alternative communication was created to develop the communication skills of the patient who was no longer expressing himself. Two evaluations (pre and post therapy) and four therapeutic intervention sessions were carried out to learn and implement the alternative communication board. At the end of the therapeutic process, there was low adherence to the use of augmentative and / or alternative communication, even with the self-perception of the unintelligibility of his speech, using the folder restricted to speech therapy. Both the patient and his companions reported that even after several attempts there was a denial of the use of alternative communication. Although there were few sessions, there was no impact on the patient's quality of life after using augmentative and/or alternative communication.

Immunopharmacology 2020. V International Congress on Immunopharmacology

The Organizing Committee of the V International Congress on Immunopharmacology (Immunopharmacology 2020) organized by the Cuban Society of Pharmacology, BioCubaFarma and the International Union of Basic and Clinical Pharmacology (IUPHAR) would like to invite you to participate in this important event, scheduled for June 9 to 13, 2020 at the Convention Centre of the Melia Marina Varadero Hotel, Varadero Beach, Matanzas, Cuba. The Congress will be formed by different workshops and symposia such as: Fifth workshop on new advances in immunopharmacology Fifth workshop on neuroimmunology, neuroimmunopharmacology and neuroimmunomodulation. Immunopharmacology of brain tumors Symposium on hereditary ataxias Fifth symposium on pharmacology of cytochrome P450 and transporters Fourth symposium on inflammation and pain 2nd symposium on NFkB Synthetic peptides as immunopharmacological tools Novel designs in clinical trials. Biosimilar pharmaceuticals Pharmacogenetics, pharmacogenomics, proteomics and phosphoproteomics Immune response in cancer First symposium on business and international cooperation on biologics Immunopharmacology 2020 is sponsored by: Cuban Society of Pharmacology (SCF) International Union of Basic and Clinical Pharmacology (IUPHAR) Latin-American Association of Pharmacology (ALF) PAHO / WHO BioCubaFarma National research centers: Finlay Vaccine Institute (IFV); Center of Genetic Engineering and Biotechnology (CIGB); Center of Molecular Immunology (CIM); Center for Control of Drugs, Equipment and Medical Devices (CECMED); National Center for Animal and Plant Health (CENSA); Tropical Medicine Institute "Pedro Kourí" (IPK); National Center for Biopreparations (BioCEN); Center for Drug Research and Development (CIDEM); Center for Clinical Trials (CENCEC); among others International Manufacturers and Companies The key objectives of the Congress are: To provide a progressive state-of-the-art report for scientists, manufacturers, governmental authorities and healthcare workers, who need to be updated about the latest scientific developments for human vaccines, including basic science, product development, market introduction, immunization programs and epidemiological surveillance. To promote the scientific collaboration among experts and institutions through the experience exchange, the presentation of results and the discussion on the conference topics. To accelerate progress in the development of vaccines and the acceptance and introduction of new methods and technologies. Opening lectures, oral presentations and posters will provide you the opportunity to be involved in a high quality congress to discuss about the progress in the field of immunology and pharmacology sciences(AU)

Extending the range of differential diagnosis of chronic traumatic encephalopathy of the boxer: Insights from a case report / Ampliando a gama de diagnósticos diferencias da encefalopatia traumática crônica do pugilista: um relato de caso ilustrativo

ABSTRACT Sports activities associated with repetitive cranial trauma have become a fad and are popular in gyms and even among children. It is important to consistently characterize the consequences of such sports activities in order to better advise society on the real risks to the central nervous system. We present the case of a former boxer reporting cognitive and behavioral symptoms that began six years after his retirement as a boxer, evolving progressively with parkinsonian and cerebellar features suggestive of probable chronic traumatic encephalopathy (CTE). Using our case as a paradigm, we extended the range of differential diagnosis of CTE, including corticobasal degeneration, multiple system atrophy, vitamin B12 deficiency, neurosyphilis, frontotemporal dementia and Alzheimer's disease.

RESUMO As atividades esportivas associadas ao trauma craniano repetitivo tornaram-se uma moda e são populares nas academias e entre as crianças. É importante fazer uma caracterização consistente das consequências de tais atividades esportivas, a fim de aconselhar melhor uma sociedade sobre os riscos reais para o sistema nervoso central. Apresentamos um antigo boxeador relatando sintomas cognitivos e comportamentais que começaram seis anos após sua aposentadoria como boxeador e evoluiu progressivamente com características parkinsonianas e cerebelares sugestivas de provável encefalopatia traumática crônica (ETC). Usando nosso caso como paradigma, ampliamos a gama de diagnóstico diferencial de ETC, incluindo degeneração corticobasal, atrofia de múltiplos sistemas, deficiência de vitamina B12, neurossífilis, demência frontotemporal e doença de Alzheimer.

Otoneurological findings prevalent in hereditary ataxias / Alterações otoneurológicas prevalentes nas ataxias hereditárias

ABSTRACT Objective To describe and compare the vestibular findings most evident among the hereditary ataxias, as well as correlate their clinical features with the nervous structures affected in this disease. Methods Seventy-five patients were evaluated and underwent a case history, otorhinolaryngological and vestibular assessments. Results Clinically, the patients commonly had symptoms of gait disturbances (67.1%), dizziness (47.3%), dysarthria (46%) and dysphagia (36.8%). In vestibular testing, alterations were predominantly evident in caloric testing (79%), testing for saccadic dysmetria (51%) and rotational chair testing (47%). The presence of alterations occurred in 87% of these patients. A majority of the alterations were from central vestibular dysfunction (69.3%). Conclusion This underscores the importance of the contribution of topodiagnostic labyrinthine evaluations for neurodegenerative diseases as, in most cases, the initial symptoms are otoneurological; and these evaluations should also be included in the selection of procedures to be performed in clinical and therapeutic monitoring.

RESUMO Objetivo Descrever e comparar os achados vestibulares mais evidentes entre a ataxia hereditária, bem como correlacionar seus aspectos clínicos com o estudo das estruturas nervosas afetadas nesta doença. Métodos 75 pacientes foram avaliados e submetidos aos seguintes procedimentos: anamnese, avaliação otorrinolaringológica e vestibular. Resultados Clinicamente, os pacientes apresentaram sintomas de distúrbios da marcha (67,1%), tonturas (47,3%), disartria (46%) e disfagia (36,8%). No teste vestibular, as alterações foram predominantemente evidentes no teste calórico (79%), dismetria sacádicas (51%) e no teste rotatório (47%). A presença de alterações ocorreu em 87% dos pacientes. A maioria das alterações observadas foram da disfunção vestibular central (69,3%). Conclusão O estudo ressalta a importância da contribuição da avaliação labiríntica no topodiagnóstico para doenças neurodegenerativas, uma vez que, na maioria dos casos, os sintomas iniciais são otoneurológicos, e essas avaliações também devem ser incluídas na seleção de procedimentos a serem realizados no monitoramento clínico e terapêutico.

Otoneurological Abnormalities in Patients with Friedreich's Ataxia

Abstract Introduction Friedreich's ataxia is a neurodegenerative disease and progressive by nature. It has autosomal recessive inheritance and early onset inmost cases. Nystagmus and hearing loss (in some cases) make up some of the common symptoms seen in this disorder. Objective The objective of this study is to examine vestibular disorders in patientswith Friedreich ataxia. Methods We conducted a retrospective cross-sectional study. We evaluated 30 patients with ages ranging from six to 72 years (mean age of 38.6 ( 14.7). The patients underwent the following procedures: anamnesis, ENT, and vestibular evaluations. Results Clinically, the patients commonly had symptoms of incoordination of movement (66.7%), gait disturbances (56.7%), and dizziness (50%). In vestibular testing, alterations were predominantly evident under caloric testing (73.4%), gaze nystagmus testing (50.1%), rotational chair testing (36.7%), and optokinetic nystagmus testing (33.4%). The presence of alterations occurred under examination in 90% of subjects, with the majority occurring in those with central vestibular dysfunction (70% of the examinations). Conclusion The most evident neurotological symptoms were incoordination of movement, gait disturbances, and dizziness. Alterations in vestibular examinations occurred in 90% of patients, mostly in the caloric test, with a predominance of deficient central vestibular system dysfunction.

Current concepts in the treatment of hereditary ataxias / Conceitos atuais no tratamento das ataxias hereditárias

ABSTRACT Hereditary ataxias (HA) represents an extensive group of clinically and genetically heterogeneous neurodegenerative diseases, characterized by progressive ataxia combined with extra-cerebellar and multi-systemic involvements, including peripheral neuropathy, pyramidal signs, movement disorders, seizures, and cognitive dysfunction. There is no effective treatment for HA, and management remains supportive and symptomatic. In this review, we will focus on the symptomatic treatment of the main autosomal recessive ataxias, autosomal dominant ataxias, X-linked cerebellar ataxias and mitochondrial ataxias. We describe management for different clinical symptoms, mechanism-based approaches, rehabilitation therapy, disease modifying therapy, future clinical trials and perspectives, genetic counseling and preimplantation genetic diagnosis.

RESUMO As ataxias hereditárias representam um grupo complexo de doenças neurodegenerativas, e se caracterizam por ataxia cerebelar progressiva, associada a sinais e sintomas extra-cerebelares e sistêmicos, os quais incluem: neuropatia periférica, sinais piramidais, distúrbios do movimento, convulsões e disfunção cognitiva. Não existe um tratamento efetivo para a cura das ataxias hereditárias. Até o momento os tratamentos disponíveis são apenas sintomáticos. Nesta revisão vamos abordar tratamento sintomático das principais ataxias autossômicas recessivas, ataxias autossômicas dominantes, ataxias ligadas ao X e ataxias mitocondriais. Descrevemos os diferentes sintomas, abordagens terapêuticas baseadas no mecanismo fisiopatológico, terapia de reabilitação, terapia modificadora da doença, futuros ensaios clínicos, perspectivas, níveis de evidência, aconselhamento genético e diagnóstico genético pré-implantacional.

Idiopathic very late-onset cerebellar ataxia: a Brazilian case series / Ataxia cerebellar idiopática com início muito tardio: uma série de casos brasileiros

ABSTRACTThe authors present a Brazilian case series of eight patients with idiopathic very-late onset (mean 75.5 years old) cerebellar ataxia, featuring predominantly gait ataxia, associated with cerebellar atrophy.Method: 26 adult patients with a diagnosis of idiopathic late onset cerebellar ataxia were analyzed in a Brazilian ataxia outpatient clinic and followed regularly over 20 years. Among them, 8 elderly patients were diagnosed as probable very late onset cerebellar ataxia. These patients were evaluated with neurological, ophthalmologic and Mini-Mental Status examinations, brain MRI, and EMG.Results: 62.5% of patients were males, mean age was 81.9 years-old, and mean age of onset was 75.5 years. Gait cerebellar ataxia was observed in all patients, as well as, cerebellar atrophy on brain MRI. Mild cognitive impairment and visual loss, due to macular degeneration, were observed in 50% of cases. Chorea was concomitantly found in 3 patients.Conclusion: We believe that this condition is similar the one described by Marie-Foix-Alajouanine presenting with mild dysarthria, associated with gait ataxia, and some patients had cognitive dysfunction and chorea.

RESUMOOs autores apresentam uma série de casos incluindo oito pacientes com ataxia cerebellar de início muito tardio (média de 75,5 anos de idade) apresentando ataxia de marcha, associada à atrofia cerebelar.Método: 26 pacientes adultos com diagnóstico de ataxia cerebelar de início tardio idiopática foram analisados ambulatorialmente e acompanhados regularmente ao longo de 20 anos. Destes, oito pacientes idosos foram diagnosticados como provável ataxia cerebelar início muito tardio. Os pacientes foram submetidos a um exame neurológico completo, avaliação cognitive e oftalmológica assim como ressonância magnética do cérebro e eletroneuromiografia tambem foram realizados.Resultados: 62,5% dos pacientes eram do sexo masculino, com idade média de 81,9 anos, com média de idade de início aos 75,5 anos. Ataxia cerebelar predominante de marcha foi observada em todos os pacientes, bem como, a atrofia cerebelar na ressonância magnética cerebral. Comprometimento cognitivo leve e perda visual, devido à degeneração macular, foram observados em 50% dos casos. Coréia foi encontrada em 3 pacientes.Conclusão: Acreditamos que esta condição é semelhante à descrita por Marie-Foix-Alajouanine apresentando disartria leve, associada a ataxia de marcha, disfunção cognitiva e coréia.

The seminal role played by Pierre Marie in Neurology and Internal Medicine / O papel essencial de Pierre Marie na neurologia e na medicina interna

The authors review the most important contributions of Pierre Marie to the elucidation and description of several neurological diseases, such as Charcot-Marie-Tooth’s disease and hereditary cerebellar ataxia, as well as his contributions to Internal Medicine, including his pioneering studies on acromegaly, ankylosing spondylitis, and hypertrophic pulmonary osteoarthropathy. His works led to incontestable advances in the medical sciences that transcended his time.

Os autores revisaram as mais importantes contribuições de Pierre Marie para a elucidação e a descrição de várias doenças neurológicas, tais como a doença de Charcot-Marie-Tooth e a ataxia cerebelar hereditária, bem como na medicina interna, incluindo os seus estudos pioneiros na acromegalia, espondilite anquilosante e osteo-artropatia hipertrófica pulmonar. Os seus trabalhos promoveram uma crescimento incontestável das ciências médicas que transcenderam o seu tempo.

Ataxia cerebelar idiopática de início tardio (ILOCA): um desafio diagnóstico / Idiopathic late onset cerebellar ataxia (ILOCA): diagnostic challenge

O diagnóstico diferencial das ataxias é complexo e a determinação etiológica um desafio. Quando se inicia após os 50 anos de idade, mesmo após extensa investigação, eventualmente não se estabelece a etiologia, podendo tratar-se de ataxia cerebelar idiopática de início tardio (ILOCA), uma das formas de ataxia esporádica neurodegenerativa. Relatamos o caso de uma mulher com quadro de ataxia e sinais piramidais com evolução de 14 anos, cuja causa, mesmo após extensa investigação, não foi possível de se identificar. Citamos, ainda, os diagnósticos diferenciais, assim como o estabelecido para a paciente em questão: ILOCA-plus , por causa da presença de sinais piramidais associados à ataxia.

The differential diagnosis of ataxia is complex and determining etiology is a diagnostic challenge. In some patients even after extensive investigation no etiology is determined and these cases could be classified as idiopathic late onset cerebellar ataxia (ILOCA), a cause of sporadic neurodegenerative ataxia. We report a case of a female patient with progressive ataxia (14 years of evolution) with pyramidal signs that even after extensive research has not been possible to determine the cause. We discuss the differential diagnosis and the diagnosis established for the patient: ILOCA-plus, due to presence of pyramidal signs associated with ataxia.

Abordagem fisioterapêutica da ataxia espinocerebelar: uma revisão sistemática / Physical therapy approach to spinocerebellar ataxia: a systematic review / El abordaje fisioterapéutico de la ataxia espinocerebelosa: una revisión sistemática

A ataxia espinocerebelar (SCA) é uma afecção hereditária que cursa com a degeneração progressiva do cerebelo e suas vias, causando alterações do equilíbrio e de outras funções. O efeito das abordagens da fisioterapia no tratamento da SCA e a qualidade metodológica desses estudos foram analisados. Foi investigado ainda se os benefícios alcançados com o tratamento são retidos. As intervenções encontradas incluem treino do equilíbrio, marcha e coordenação; fortalecimento; caneleiras nos membros durante exercícios e aplicação de estimulação magnética transcraniana. A retenção das melhoras obtidas com o tratamento foi relacionada ao grau de evolução da SCA e à continuidade da prática de exercícios. Porém, novos estudos com maior rigor científico são necessários para eleger as abordagens mais adequadas para o tratamento de portadores de SCA...

The spinocerebellar ataxia (SCA) is an inherited disorder that leads to progressive degeneration of the cerebellum and its pathways with impairments of balance and other functions. Physical therapy studies for SCA treatment and their methodological quality were examined. We also investigated if the benefits achieved with treatment can be retained. The interventions identified included balance, gait and coordination training; strengthening; weights around the limbs during exercise and transcranial magnetic stimulation. The long-term improvements were related to the degree of SCA evolution and the continuity of exercise practice. Nevertheless, further studies with higher scientific accuracy are necessary to elect the best physical therapy approaches for SCA patients...

La ataxia espinocerebelosa (SCA) es una afección hereditaria que cursa con la degeneración progresiva del cerebelo y de sus vías, lo que causa alteraciones del equilibrio y de otras funciones. El resultado de los abordajes de la fisioterapia en el tratamiento de la SCA y la cualidad metodológica de estos estudios fueron analizados. Se investigó si los beneficios alcanzados con el tratamiento fueron retenidos. Las intervenciones encontradas incluyen entrenamiento del equilibrio, marcha y coordinación; fortalecimiento; canilleras en los miembros durante ejercicios y aplicación de la estimulación magnética transcraneana. La retención de las mejorías obtenidas con el tratamiento fue relacionada al grado de evolución de la SCA y a la continuidad de la práctica de ejercicios. Aunque nuevos estudios con mayor carácter científico son necesarios para elegir los abordajes más adecuados para el tratamiento de los portadores de la SCA...

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 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.

Reabilitação vestibular com realidade virtual na ataxia espinocerebelar / Vestibular rehabilitation with virtual reality in spinocerebellar ataxia

O objetivo do estudo foi verificar os benefícios da reabilitação vestibular (RV) com realidade virtual, por meio de avaliação pré e pós-aplicação da Escala de Equilíbrio de Berg (EEB), em quatro casos de ataxia espinocerebelar (AEC). Os casos foram submetidos aos seguintes procedimentos: anamnese, inspeção otológica, avaliação vestibular e aplicação da EEB pré e pós-RV, com a realidade virtual representada por meio da utilização de jogos do equipamento Wii Fit. Os casos retratam quatro pacientes com diagnóstico genético de AEC (dois tipo 2, um tipo 3 e um em investigação), sendo três do gênero feminino e um do gênero masculino, na faixa etária de 30 a 62 anos. Os pacientes referiram sintomas otoneurológicos e, no exame vestibular, observou-se a presença de nistagmo semiespontâneo com características centrais, ausência de nistagmo pós-rotatório, hiporreflexia e preponderância direcional do nistagmo assimétrica à prova calórica. Nos casos 1 e 2, os pacientes referiram melhora na coordenação dos movimentos e do equilíbrio corporal, independente do escore na EEB ter demonstrado médio risco para queda, antes e após a realização dos exercícios. No caso 3, o paciente apresentou melhora do escore na EEB, bem como do equilíbrio, apresentando baixo risco para queda. O caso 4 não evidenciou melhora na avaliação após a execução dos exercícios. Este estudo de caso demonstrou a possibilidade da aplicação dos exercícios de RV com estímulos virtuais na AEC, com melhora da coordenação motora e do equilíbrio postural.

The purpose of this study was to verify the benefits of the vestibular rehabilitation (VR) with virtual reality through the assessment before and after the application of the Berg Balance Scale (BBS) in four cases of spinocerebellar ataxia (SCA). The cases were underwent the following procedures: anamnesis, ear inspection, vestibular assessment and application of the BBS before and after VR with virtual reality using games from Wii Fit device. The cases describe four patients that were diagnosed with genetically inherited SCA (two type 2, one type 3 and one still under investigation), three of them were female and one was male, with ages ranging from 30 to 62 years. The patients presented otoneurological symptoms and the vestibular test showed the presence of semi-spontaneous nystagmus, absence of post-rotational nystagmus, hyporeflexia, and asymmetric directional preponderance of the nystagmus in the caloric test. Patients from cases 1 and 2 have showed an improvement in motor coordination and in body balance, even though the score presented by the BBS had demonstrated medium risk for falling before and after the exercises. In case 3, the patient's loss of balance and BBS score have improved, presenting low risk of falling; whereas the patient in case 4 did not show any improvement in the assessment after the exercises. This case study shows the applicability of VR exercises with virtual stimuli in SCA with improved motor coordination and postural balance.

Ataxia crónica en pediatría / [Chronic ataxia in childhood].

Chronic ataxias are an heterogeneous group of disorders that affect the child at different ages. Thus, the congenital forms, generally non progressive are observed from first months of life and are expressed by hypotonia and motor delay long before the ataxia became evident. The cerebral magnetic resonance images (MRI) may be diagnostic in some pictures like Joubert syndrome. The group of progressive hereditary ataxias, usually begin after the infant period. The clinical signs are gait instability and ocular apraxia that can be associated with oculocutaneous telangiectasias (ataxia-telangiesctasia) or with sensory neuropathy (Friedreich ataxia). In this review are briefly described congenital ataxias and in more detailed form the progressive hereditary ataxias autosomal recessive, autosomal dominants and mitochondrials. The importance of genetic study is emphasized, because it is the key to obtain the diagnosis in the majority of these diseases. Although now there are no treatments for the majority of progressive hereditary ataxias, some they have like Refsum disease, vitamine E deficiency, Coenzyme Q10 deficiency and others, thus the diagnosis in these cases is even more important. At present the diagnosis of childhood hereditary ataxia not yet treatable is fundamental to obtain suitable handling, determine a precise outcome and to give to the family an opportune genetic counseling.

Efeito da facilitação neuromuscular proprioceptiva no equilíbrio de indivíduo com degeneraçãoespinocerebelar recessiva / The proprioceptive neuromuscular facilitation effect in fall risk in an ataxic patient

Objetivo: Avaliar os efeitos da facilitação neuromuscular proprioceptiva (PNF) no risco de queda de um paciente com degeneraçãoespinocerebelar recessiva utilizando como instrumentos de avaliaçãoa escala de equilíbrio de Berg (EEB) e a o teste time get up and go (TUG). Método: Foram realizados 10 atendimentos compostos porcinco exercícios baseados no conceito PNF cada. Antes da primeirasessão e imediatamente após a última o paciente foi avaliado atravésda EEB e, a cada sessão, era realizado ainda uma avaliação pré epós-intervenção utilizando o TUG teste para avaliar os resultados do atendimento em cada sessão. Resultados: Observou-se melhoraprogressiva no tempo de execução do TUG teste a cada atendimento e, quando comparado a primeira à última sessão, essa melhora chegou a redução de 50% do tempo inicial. Já na EEB não se observou melhoras significativas visto que o paciente não conseguiu realizar tanto no pré como no pós-testes alguns domínios da escala. Conclusão: O PNF foi efetivo no controle do equilíbrio de um pacientecom degeneração espinocerebelar.

Objective: To investigate the effects of proprioceptive neuromuscularfacilitation (PNF) in falls risk in an ataxic patient using 2 different tests: the Berg Balance Scale (BBS) and the time get up and go test (TUG). Method: 10 therapy sessions with 5 exercises each one were carried out. Before the first session and after the last onethe BBS was applied and, in each session, a pre and post-test wereperformed using the TUG test to analyze the effect of this exerciseprogram in each session. Results: There was a decrease of the timeduration of TUG test comparing the pre and post tests in each onetherapy session and it was observed an improvement of 50% whencompared the first and the last session. On the other hand, we didnot observe significant improvements in the BBS’s results becausethe patient could not realize some point of this scale either in the preor in the posttest. Conclusion: The PNF was effective in the balancerehabilitation of an ataxic patient.