Diagnostic Value of Structural MRI in Spinocerebellar Ataxia Type 3 / 中山大学学报(医学科学版)

ObjectiveTo explore the role of structural MRI in the diagnosis of spinocerebellar ataxia type 3 （SCA3） and further evaluate its correlation with disease severity and disease duration. MethodsWe prospectively enrolled 81 genetically diagnosed SCA3 patients ［59 symptomatic （sym-SCA3） and 22 pre-symptomatic （pre-SCA3）］ and 35 age- and sex-matched healthy controls （HCs）. MRI structural images （3D T1 MPRAGE） and clinical data of all subjects were collected. Three observers with different radiological experience measured the width of the superior， middle and inferior cerebellar peduncle （SCP， MCP and ICP）， the anterior-posterior diameters of the pons and spinal cord at the levels of the foramen magnum and upper edge of the 3rd-5th cervical vertebra. One observer performed the measurements again 2 months later to assess for the intra- and inter-observer reliability， respectively. One-way ANOVA， rank-sum test， ROC curve and Random Forest were used to evaluate the diagnostic value of the above metrics for SCA3， and the correlation between the metrics and clinical variables was analyzed. ResultsNot depending on the radiological experience， the metrics based on morphological MRI showed high intra- and inter-observer reliability， among which bilateral superior and middle cerebellar peduncles performed best. The diameters of bilateral SCP， MCP， ICP， pons and spinal cord （except spinal cord at the level of the upper edge of the 5th cervical vertebra） decreased successively in HCs， pre-SCA3 and sym-SCA3 with a statistical difference （P<0.017）. ROC analysis revealed that the left MCP had the highest diagnostic value for pre-SCA3 （AUC=0.911）， with sensitivity， specificity and a cut-off value of 85.7%， 95.5% and 10.15 mm， respectively. In contrast， the right SCP had the highest diagnostic value for sym-SCA3 （AUC=0.999）， with sensitivity， specificity and a cut-off value of 100%， 98.3% and 2.62 mm， respectively. The Random Forest model based on the above metrics also had high diagnostic efficiency （AUC= 0.970， specificity=93.1%）， and the left MCP contributed the most. Correlation analysis showed that the above metrics had a significantly or moderately negative correlation with the Scale for the Assessment and Rating of Ataxia （SARA） and disease duration （P<0.05）. ConclusionNot depending on radiological experience， measurements of brain structure based on morphological MRI are reliable， which can help diagnose SCA3 and predict disease severity and duration. The left MCP and the right SCP perform best for predicting pre-SCA3 and sym-SCA3， respectively. Therefore， the structural MRI is recommended for assisting the clinical diagnosis of SCA3.

Aya Kitou: Resilience capacity according to the Boris Cyrulnik biopsychosocial model / Aya Kitou: capacidade de resiliência segundo o modelo biopsicossocial de Boris Cyrulnik

Objective: Spinocerebellar ataxia type 2, an orphan disease also known as spinocerebellar degeneration, is characterized by a degenerative process of the cerebellum and spinal cord. Method Biographical review of a Japanese woman known as Aya Kitou, using a qualitative approach of discourse analysis to identify resilience capacity, based on Boris Cyrulnik's Biopsychosocial model. Results Description based on the detailed experience reported in Aya´s diary; the areas to achieve resilience are identified (internal resources, sociocultural significance and social support system) Conclusion Although the progression of the clinical condition compromised Aya"s functional capacity, limiting her autonomy and quality of life, it was evidenced that thanks to strong social networks individuals are more likely to achieve resilience, although the prevalence of social values and meanings upon the patient creates greater social anxiety and a greater feeling of inferiority and incapacity.

Objetivo A ataxia espinocerebelar tipo 2, uma doença órfã também conhecida como degeneração espinocerebelar, é caracterizada pelo processo degenerativo do cerebelo e da medula espinhal. Método Revisão biográfica de mulher japonesa conhecida como Aya Kitou, a partir de uma abordagem qualitativa, baseada na análise do discurso, para identificar a capacidade de resiliência, a partir do modelo biopsicossocial de Boris Cyrulnik. Resultados Descritos com base nas vivências detalhadas de seu diário, são identificadas as áreas para alcançar resiliência (recursos internos, significado sociocultural e sistema de suporte social). Conclusão Embora a progressão do quadro clínico tenha comprometido sua capacidade funcional, limitando sua autonomia e qualidade de vida, evidenciou-se que, graças às fortes redes sociais, tem mais chance de alcançar resiliência, embora, com a prevalência de valores e significados sociais sobre ela, haja maior ansiedade social e maiores sentimentos de inferioridade e incapacidade.

Curso optativo sobre ataxia espinocerebelosa tipo 2 en la Universidad de Ciencias Médicas de Holguín

Introducción: Recientemente inició la formación de profesionales en una nueva modalidad de Programas Técnico Superior de Ciclo Corto en la especialidad Neurofisiología Clínica, en la Universidad de Ciencias Médicas de Holguín, atendiendo a la alta incidencia de enfermedades neurológicas, como la ataxia espinocerebelosa tipo 2, que constituye un serio problema de salud en Cuba. Un programa de curso optativo que aborde esta temática, contribuye al conocimiento de esta enfermedad para su investigación y posibles tratamientos. Objetivo: Diseñar un programa de curso optativo sobre diagnóstico e intervención físico-terapéutica en la fase prodrómica de la ataxia espinocerebelosa tipo 2 para estudiantes de Neurofisiología Clínica Primer Año en la Facultad de Enfermería ¨Arides Estévez Sánchez¨ de Holguín. Método: Se realizó una investigación didáctica metodológica utilizando los métodos empíricos: observación; teóricos: histórico-lógico, estudio documental, dialéctico; análisis-síntesis e inducción-deducción. Resultados: Se propuso un programa para curso optativo basado en la búsqueda de información científica y métodos empíricos, el cual fue estructurado en cuatro temas, con carácter presencial y duración de 24 horas. Se presentaron los contenidos por temas, objetivos, conocimientos esenciales a adquirir, habilidades principales a dominar y sistema de evaluación. Conclusiones: La aplicación de este programa contribuye a desarrollar habilidades en los profesionales en formación, en el conocimiento de la fase prodrómica de esta enfermedad.

Introduction: It recently began the training of professionals in a new modality of Programas Técnico Superior de Ciclo Corto (Short Cycle Superior Technical Programs) in the Clinical Neurophysiology specialty, at the Universidad de Ciencias Médicas de Holguín, attending to the high incidence of neurological diseases, such as spinocerebellar ataxia type 2, which constitutes a serious health problem in Cuba. This is an elective course program that addresses this topic and contributes to the knowledge of this disease, in order to improve research and possible treatments. Objective: To design an elective course program on diagnosis and physical-therapeutic intervention in the prodromal phase of spinocerebellar ataxia type 2 for first year Clinical Neurophysiology students at the ¨Arides Estévez Sánchez¨ School of Nursing in Holguín. Method: A methodological didactic research was carried out using the empirical methods: observation; theoretical: historical-logical, documentary study, dialectical; analysis-synthesis and induction-deduction. Results: A program was proposed for an optional course, based on the search for scientific information and empirical methods, which was structured in four themes, in face-to-face modality and with a duration of 24 hours. The contents were presented by themes, objectives, essential knowledge to acquire, main skills to master and evaluation system. Conclusions: The application of this program contributes to developing skills in training professionals, in the knowledge of the prodromal phase of this disease.

Introdução: Iniciou-se recentemente a formação de profissionais em uma nova modalidade de Programas Técnicos Superiores de Ciclo Curto na especialidade de Neurofisiologia Clínica, na Universidad de Ciencias Médicas de Holguín, atendendo à alta incidência de doenças neurológicas, como a ataxia espinocerebelar tipo 2, que constitui um grave problema de saúde em Cuba. Um programa de disciplina eletiva que aborde esse tema contribui para o conhecimento dessa doença para sua investigação e possíveis tratamentos. Objetivo: Elaborar um programa de disciplina eletiva sobre diagnóstico e intervenção fisioterapêutica na fase prodrômica da ataxia espinocerebelar tipo 2 para alunos do primeiro ano de Neurofisiologia Clínica da Escola de Enfermagem ¨Arides Estévez Sánchez¨ de Holguín. Método: Foi realizada uma pesquisa didática metodológica utilizando os métodos empíricos: observação; teórico: histórico-lógico, estudo documental, dialético; análise-síntese e indução-dedução. Resultados: Foi proposto um programa para um curso opcional baseado na busca de informações científicas e métodos empíricos, o qual foi estruturado em quatro temas, com caráter presencial e duração de 24 horas. Os conteúdos foram apresentados por temas, objetivos, conhecimentos essenciais a adquirir, principais competências a dominar e sistema de avaliação. Conclusões: A aplicação deste programa contribui para o desenvolvimento de competências nos profissionais em formação, no conhecimento da fase prodrómica desta doença.

Spinocerebellar ataxia type 11: a case report / 中华神经科杂志

Spinocerebellar ataxia (SCA) is a group of highly heterogeneous autosomal dominant genetic disease, including many subtypes. SCA11 is a rare subtype of SCA, and is caused by mutant TTBK2 gene. A case of SCA11 was reported in this article. Whole exome sequencing showed that there was a c.1284dupA frameshift mutation in TTBK2 gene. Literature review found that only 6 pedigrees of SCA11 have been reported, but the mutation site of this case is a novel identified mutation that has not been reported in the Human Gene Mutation Database.

Advances on the spectrum of neurological diseases related to the CACNA1A gene / 中华实用儿科临床杂志

The CACNA1A gene encodes a voltage-gated calcium channel of the pore-forming protein, which has important functions in the central nervous system.The CACNA1A gene mutation can lead to a variety of neurological diseases, including familial hemiplegic migraine 1, spinocerebellar ataxia 6, episodic ataxia 2 and early infantile epileptic encephalopathy 42.Overlapping phenotypes could be observed in a small number of patients.This review summarized the clinical and genetic characteristics of the CACNA1A gene mutation.

A case of early-onset spinocerebellar ataxia type 5 / 中华神经科杂志

Spinocerebellar ataxias are a high clinically and genetically heterogeneous group of neurodegenerative disorders, usually belongs to autosomal dominant hereditary cerebellar ataxia. Spinocerebellar ataxia type 5 (SCA5) is one of the extremely rare subtypes and caused by heterozygous mutation of SPTBN2 gene. A case of infant-onset SCA5 patient is reported, mainly manifested as global developmental delay, ataxia and dysarthria, carrying the heterozygous missense variant c.1438C>T (p. Arg480Trp) in the SPTBN2 gene. This mutation may have an important impact on functional regions of the β-Ⅲ spectrin, leading to the occurrence of disease.

Aproximación a la ingesta nutricional en pacientes con Ataxia Espinocerebelosa tipo 2 / An approach to nutritional intake in patients with Spinocerebellar Ataxia type 2

Introducción: La Ataxia Espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa y hereditaria. No se ha realizado ningún estudio para la caracterización de la ingesta nutricional en pacientes cubanos con SCA2. Objetivo: Comprobar la reproducibilidad y fiabilidad del método de recordatorio de 24 horas para la evaluación de la ingesta nutricional en pacientes cubanos con SCA2, y obtener una caracterización preliminar de la misma en estos pacientes. Material y Métodos: Se realizó un estudio transversal con test-retest que incluyó 35 pacientes con diagnóstico de SCA2. Se empleó el cuestionario dietético de recordatorio de 24 horas incorporado al sistema CERES+. Resultados: Se obtuvieron correlaciones altamente significativas entre la primera y segunda mediciones para la ingesta estimada de energía, nutrientes y según grupos de alimentos. En la mayoría de los elementos relativos a la ingesta estimada de energía y nutrientes, y en todos los grupos de alimentos, se obtuvieron coeficientes de correlación intraclase (0,75. Se obtuvieron diferencias significativas entre pacientes de sexo masculino o femenino en cuanto a la ingesta de proteínas, carbohidratos, cobalamina, hierro, sodio y cinc. Se obtuvo un incremento en la ingesta de sodio y una disminución en la ingesta de ácido fólico y cobre, con respecto a las recomendaciones de ingesta nutricional diaria para la población cubana. Conclusiones: Se comprobó la elevada reproducibilidad y fiabilidad del cuestionario dietético recordatorio de 24 horas para la evaluación de la ingesta nutricional en pacientes con SCA2 y se logró una caracterización preliminar de la ingesta nutricional en estos pacientes(AU)

Introduction: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative and inherited disorder. No study has been conducted to characterize nutritional intake in Cuban SCA2 patients. Objective: To test the reproducibility and reliability of the 24-hour dietary recall method for the assessment of nutritional intake in Cuban patients with SCA2, as well as to obtain a preliminary characterization of nutritional intake in these patients. Material and Methods: A cross-sectional test-retest study was conducted on 35 SCA2 patients. The 24-hour dietary recall questionnaire in the CERES+ system was used. Results: Highly significant correlations between the first and second measurements were obtained for energy and nutrients intake, and according to food groups. Intraclass correlation coefficients higher than 0.75 were obtained for energy and most of the nutrients and according to food groups. Significant differences were obtained between male and female patients in terms of proteins, carbohydrates, cobalamin, iron, sodium, and zinc intake. An increase in sodium intake and a decrease in folic acid and copper intake were obtained. SCA2 patients showed increased sodium intake, and decreased folic acid and copper intake relative to nutritional intake recommendations for the Cuban population. Conclusions: The 24-hour recall dietary questionnaire is reproducible and reliable for the assessment of nutritional intake in SCA2 patients. Preliminary characterization of nutritional intake in SCA2 patients was obtained(AU)

A case report of spinocerebellar ataxia type 2 with parkinsonism and cognitive impairment / 中华神经科杂志

The common clinical manifestations of spinocerebellar ataxia type 2 include ataxia, dysarthria, slower saccades, weakened or disappeared tendon reflexes, etc. It is relatively rare in patients with parkinsonism and cognitive impairment. Parkinsonism is rare in patients with spinocerebellar ataxia type 2, maybe because the degeneration of the substantia nigra striatum system is only manifested in the striatal presynaptic membrane, while the postsynaptic membrane receptors are relatively retained. At the same time, the degeneration of the subthalamic nucleus and the cerebellum prevents parkinsonism.The reason for cognitive decline may be related to the decrease in the network connection between the cerebellum and cerebral cortex in spinocerebellar ataxia type 2 patients.

Effect of CAG repeats on the age at onset of patients with spinocerebellar ataxia type 2 in China / 中南大学学报(医学版)

Objective: Spinocerebellar ataxia type 2 (SCA2) is one of the most common autosomal dominant ataxias in the world. Several reports revealed that CAG repeats in some polyQ-containing genes may affect the age at onset (AAO) of patients with SCA2, however, little studies were conducted among Chinese patients with SCA2. Thus, the aim of this study is to evaluate the effect of CAG repeats on the AAO of patients with SCA2 in China.Methods:A total of 119 patients with SCA2 were enrolled and were divided into 2 groups according to their major phenotype:17 patients from 9 families with Parkinson ' s syndrome were grouped as the Parkinson ' s disease-SCA2 (PD-SAC2); 91 patients from 66 SCA2 families and 11 sporadic SCA2 patients were grouped as the ataxia-SCA2 (A-SCA2). Blood samples were obtained from the subjects, and the CAG repeat length in ATXN2 and other (CAG)n-containing genes was screened using fluorescent PCR. The Spearman ' s rank correlation between the CAG repeat length in (CAG)n-containing genes and AAO was analyzed. Regression analysis was performed to investigate whether the CAG repeat length could explain the variant of AAO. A t-test was used to compare the difference of CAG repeat length in (CAG)n-containing genes between the PD-SAC2 and A-SCA2 groups. Results:The CAG repeat length in the longer allele of ATXN2 was negatively correlated with AAO of SCA2 (R=?0.251, P<0.05), and the CAG repeat length could explain 41.7％of the variation of AAO. AAO negatively correlated with the CAG repeat length in the shorter allele of ATXN7 (R=?0.251, P=0.006) or in the longer allele of TBP gene (R=?0.197, P=0.034). A tendency of delay in the AAO was also observed in patients with SCA2 carrying the CAG repeat within the ATXN3, CACNA1A, ATXN7, TBP, and RAI1. In addition, we found that the CAG repeat length in ATXN7 and ATXN2 between the A-SCA2 and the PD-SCA2 groups was significantly different (both P<0.05).Conclusion:The CAG repeat in ATXN2 is a major genetic factor for the AAO of patients with SCA2 in China. The CAG repeat length in ATXN3, CACNA1A, ATXN7, TBP, and RAI1 genes might be a potential factor associated with the AAO of SCA2. The CAG repeat in ATXN7 might be a potential factor affecting the Parkinson??s syndrome in SCA2.

Assessment of ventilatory function in patients with spinocerebellar ataxia type 2 / Avaliação da função ventilatória em pacientes com ataxia espinocerebelar tipo 2

Abstract Subclinical ventilatory dysfunction is observed in individuals with spinocerebellar ataxias (SCA). No studies have correlated ventilatory dysfunction to clinical and functional decline in SCA2. Objective: To evaluate the relationship between the values of peak expiratory flow (PEF), maximum inspiratory pressure (MIP), and presence of respiratory complaints with age, disease duration, age at onset of symptoms, balance scores, independence in basic (ADL) and instrumental (IADL) Activities of Daily Living (ADLs), and severity of ataxia (SARA) in individuals with SCA2. Methods: Cross-sectional study evaluating age, disease duration, age at onset of symptoms, scores in the Berg Balance Scale and in the SARA, Functional Independence Measure and Lawton's scale, values of PEF and MIP, and the presence of respiratory complaints. Results: The study included 36 individuals with SCA2, with a mean age of 42.5±2.4 years, disease duration of 7.6±8.2 years, age 33.7±11.5 years at onset of symptoms, and 9.9±10.3 points in the SARA scale. The lowest PEF values correlated with the longer disease duration (p=0.021). The lowest values of PEF and MIP correlated with greater balance impairment (p=0.019 and p=0.045, respectively), increased degree of dependence in the ADL (p=0.006 and p=0.050, respectively) and IADL (p=0.003 and p=0.001, respectively) scales, and highest severity of ataxia (p=0.00 and p=0.017, respectively). Respiratory complaints were observed in 12 (33.3%) individuals and were not related to age, disease duration, age at onset of symptoms, balance, independence, ataxia severity, or PEF and MIP values. Conclusion: Ventilatory dysfunction, even when asymptomatic, is related to balance impairment, independence, and ataxia severity in individuals with SCA2.

Resumo Disfunção ventilatória subclínica tem sido observada em indivíduos com ataxias espinocerebelares (SCA). Não existem estudos relacionando disfunção ventilatória ao declínio clínico e funcional na SCA2. Objetivo: Avaliar a relação dos valores de Pico de Fluxo Expiratório (PFE), Pressão Inspiratória Máxima (PIMAX) e presença de queixas respiratórias com idade, tempo de doença, idade de início dos sintomas, escore de equilíbrio, independência para atividades básicas (AVD) e instrumentais (AIVD) de vida diária e gravidade da ataxia (SARA) em indivíduos com SCA2. Métodos: Estudo transversal, considerando: idade, tempo de doença, idade de início dos sintomas, escores nas Escalas SARA, Equilíbrio de Berg, Medida da Independência Funcional e de Lawton, valores de PFE, PIMAX e queixas respiratórias. Resultados: Foram avaliados 36 indivíduos com SCA2 com média de 42,5±2,4) anos de idade, 7,6±8,2 anos de tempo de doença, 33,7±11,5 anos de idade de início dos sintomas e 9,9±10,3 pontos na escala SARA. Os menores valores de PFE estiveram relacionados ao maior tempo de doença (p=0,021). Os menores valores de PFE e PIMAX estiveram relacionados ao maior comprometimento do equilíbrio (p=0,019; p=0,045, respectivamente), maior dependência para ADV (p=0,006; p=0,050, respectivamente) e AIVD (p=0,003; p=0,001, respectivamente) e maior gravidade da ataxia (p=0,006; p=0,017, respectivamente). Foram observadas queixas respiratórias em 12 (33,3%) indivíduos que não estiveram relacionadas à idade, idade de início dos sintomas, tempo de doença, equilíbrio, independência, gravidade da ataxia, ou valores de PFE e PIMAX. Conclusão: A disfunção ventilatória, mesmo quando assintomática, está relacionada ao comprometimento do equilíbrio, à independência e à gravidade da ataxia em indivíduos com SCA2.

Atuação fonoaudiológica na doença de Machado-Joseph: relato de caso / Effect of speech-language therapy in Machado-Joseph disease: case report

RESUMO A doença de Machado-Joseph é a forma de ataxia espinocerebelar de maior prevalência no Brasil e tem como alguns dos principais sinais clínicos a disfagia e a disartria. Este relato de caso objetivou verificar os efeitos da intervenção intensiva fonoaudiológica em um paciente com a doença de Machado-Joseph. A coleta de dados foi realizada a partir de protocolos de avaliação de fala e deglutição e protocolos de autoavaliação de qualidade de vida, em relação à deglutição e comunicação. Também foram realizadas avaliações quantitativas de parâmetros acústicos. A intervenção foi administrada por meio do método Lee Silverman, programa intensivo que visa ao aumento da intensidade vocal. A partir das avaliações clínicas e instrumentais, os resultados demonstraram melhora em todas as bases motoras de fala, respiratória, fonatória, ressonantal, articulatória e a prosódia, além da diminuição dos sinais disfágicos. Na qualidade vocal, houve diminuição de rouquidão e instabilidade, regularização de jitter e shimmer, aumento da intensidade vocal, melhora na coordenação de palavras e frases por expiração e, ainda, melhora discreta da diadococinesia. Após intervenção, a autoavaliação de qualidade de vida relacionada à deglutição apresentou valores iguais ou maiores nos domínios diretamente ligados à alimentação, porém, os domínios emocionais diminuíram. O paciente relatou satisfação em todos os domínios da qualidade de vida em voz e foram obtidos valores maiores em todos os domínios. Concluiu-se que a intervenção intensiva beneficiou o participante e impactou positivamente sua qualidade de vida.

ABSTRACT Machado-Joseph disease is the most prevalent form of spinocerebellar ataxia in Brazil, and has dysphagia and dysarthria among its main clinical signs. This case report aims to ascertain the effects of intensive speech-language intervention in a patient with Machado-Joseph disease. Data collection was performed based on speech and swallowing assessment protocols and self-assessment protocols specific to swallowing-related and communication-related quality of life. Quantitative assessments of acoustic parameters were also performed. The intervention was administered through the Lee Silverman method, which is an intensive program aimed at increasing vocal intensity. The results of clinical and instrumental evaluations showed improvement in all motor parameters of speech (respiration, phonation, resonance, articulation, and prosody), besides a reduction in dysphagic signs. Regarding vocal quality, there was a decrease in hoarseness and instability, regularization of jitter and shimmer, increased vocal intensity, and improved coordination of words and phrases by expiration, as well as slight improvement of diadochokinesis. After intervention, self-assessment of swallowing-related quality of life was unchanged or improved in the domains directly related to food, but reduced in emotional domains. The patient reported satisfaction in all domains of voice-related quality of life, and scores were increased in all domains. We conclude that intensive intervention was beneficial for the participant and positively impacted their quality of life.

Rehabilitating individuals with spinocerebellar ataxia: Experiences from impairment-based rehabilitation through multidisciplinary care approach

@#Spinocerebellar ataxia (SCA) is a rare neurodegenerative disease with progressive course and poor expected outcomes. Therefore, rehabilitation remains the principal form of management especially in advanced disease. Impairment-based rehabilitation through multidisciplinary care approach has proven benefits for functional improvement in individuals with advancing SCA. This concept is based on comprehensive assessments of individualised impairments and functional limitations while exploring contributing environmental and personal factors affecting the person as a whole. From this assessment, individualised rehabilitation goals can be formulated through a multidisciplinary care approach. Neurologists, rehabilitation physicians, physiotherapists, occupational therapists and speech and language pathologists are key individuals involved in the multidisciplinary care for individuals with SCA rehabilitation. Two cases of individuals at different stages of SCA are presented to highlight the rehabilitation approach in providing focused interventions based on individualised impairments through multidisciplinary care. These cases emphasise the importance of understanding the needs of each individuals with SCA so that the rehabilitative therapies prescribed can be tailored to the functional achievements desired.

Research progress of non-motor and extracerebellar symptoms in spinocerebellar ataxia type 2 / 中华神经科杂志

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant degenerative disease. The main clinical manifestation of SCA2 is progressive cerebellar syndrome, but a wide range of extracerebellar and non-motor symptoms can be observed clinically. The non-motor symptoms and extra-cerebellar signs in SCA2 patients are reviewed to provide a better understanding in cognition, diagnosis and treatment of the disease.

Assessment of Bone Mineral Density of Patients with Spinocerebellar Ataxia Type 3

OBJECTIVE: Machado-Joseph disease (MJD) is a spinocerebellar ataxia, and osteoporosis is a multifactor disease that may affect patients with neurologic conditions. The frequency of osteoporosis among MJD patients, however, has not been studied. The purpose of this study is to evaluate bone mineral density (BMD) and identify correlations between clinical factors and frequency of vertebral fractures in patients with MJD. METHODS: Clinical data, lumbar X-rays and BMD data were obtained in 30 patients with MJD. RESULTS: Ten patients (33.3%) showed low BMD in at least one of the sites studied based on Z-scores. The Z-score correlated directly with body mass index, and the femoral neck Z-score was inversely correlated with cytosine-adenine-guanine (CAG) expansion. There was no correlation between BMD and other clinical factors. Forty-three percent of the patients reported previous pathologic fractures. Five patients (16.7%) had at least one fracture detected by lumbar X-ray. CONCLUSION: Low BMD and fractures are frequent among MJD patients, and careful management of BMD may be beneficial for these patients.

Neuromyelitis optica spectrum disorder in a patient with spinocerebellar ataxia type 6

@#Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant, late-onset, slowly progressive cerebellar ataxia due to a pathological CAG repeat expansion in CACNA1A. Inflammation may be involved in the pathogenesis and progression of the trinucleotide repeat expansion disorder. We report a rare case of a 59-year-old woman with SCA6 who developed neuromyelitis optica spectrum disorder (NMOSD). In our case, this combination is coincidental but suggests that an inflammatory response to an unstable CAG repeat may contribute to NMOSD pathogenesis

Alteraciones respiratorias de la Ataxia Espinocerebelosa Tipo 2: de las bases fisiopatológicas a su impacto en la neurorrehabilitación / Respiratory Alterations in Spinocerebellar Ataxia Type 2: from the Pathophysiological Bases to its Impact on Neurorehabilitation

Los objetivos del presente estudio han sido identificar y analizar publicaciones que han indagado acerca de la funcionalidad del sistema respiratorio en pacientes con Ataxia Espinocerebelosa Tipo 2. Se presentan los datos obtenidos a partir de la búsqueda avanzada en Google Académico y en bases de datos tales como PubMed, Scopus, en los idiomas español e inglés, se tuvieron en cuenta los tipos artículos y resúmenes de eventos científicos de varios países, se acotó en la indagación realizada a las palabras claves o en resumen del artículo que hicieran referencia a: Ataxia Espinocerebelosa Tipo 2, Sistema Respiratorio y Capacidad Vital Pulmonar, en un período o desde 1998 hasta 2015, cuyos resultados permitieron revelar que el sistema respiratorio es el menos sistematizado en la búsqueda realizada, aunque existen evidencias de sus alteraciones en los pocos trabajos revisados respecto al tema; se demostró, además, desde el punto de vista teórico la existencia de un impacto positivo de este en la rehabilitación física. Como conclusión, hay indicios que permiten profundizar en este sistema en pacientes con SCA2, los que permiten la identificación de nuevas líneas de investigación en esta temática.

The aims of the present study were to identify and analyze publications that have inquired the functionality of respiratory system in patients with Spinocerebellar Ataxia type 2. The data obtained from the advanced search in Google Scholar and in databases such as PubMed, Scopus, in Spanish and English languages were presented, taking into account the types articles and summaries of scientific events from various countries, the search was limited to the key words or in the summary of the article that made reference to: Spinocerebellar Ataxia Type 2, Respiratory System and Pulmonary Vital Capacity, in a period or from 1998 to 2015 , whose results revealed that the respiratory system is the least systematized in the search performed, although there are evidences of its alterations in the few researches reviewed on the subject. In conclusion, there are traces that allow deepening this system in patients with SCA2, which admit the identification of new lines of research in this area.

The Etiologies of Chronic Progressive Cerebellar Ataxia in a Korean Population

BACKGROUND AND PURPOSE: The etiologies and frequencies of cerebellar ataxias vary between countries. Our primary aim was to determine the frequency of each diagnostic group of cerebellar ataxia patients in a Korean population. METHODS: We reviewed the medical records of patients who were being followed up between November 1994 and February 2016. We divided patients with cerebellar ataxias into familial and non-familial groups and analyzed the frequency of each etiology. Finally, we categorized patients into genetic, sporadic, secondary, and suspected genetic, but undetermined ataxia. RESULTS: A total of 820 patients were included in the study, among whom 136 (16.6%) familial patients and 684 (83.4%) non-familial cases were identified. Genetic diagnoses confirmed 98/136 (72%) familial and 72/684 (11%) nonfamilial patients. The overall etiologies of progressive ataxias comprised 170 (20.7%) genetic, 516 (62.9%) sporadic, 43 (5.2%) secondary, and 91 (11.1%) undetermined ataxia. The most common cause of ataxia was multiple-system atrophy (57.3%). In the genetic group, the most common etiology was spinocerebellar ataxia (152/170, 89.4%) and the most common subtype was spinocerebellar ataxia-3.38 of 136 familial and 53 of 684 sporadic cases (91/820, 11.1%) were undetermined ataxia. CONCLUSIONS: This is the largest epidemiological study to analyze the frequencies of various cerebellar ataxias in a Korean population based on the large database of a tertiary hospital movement-disorders clinic in South Korea. These data would be helpful for clinicians in constructing diagnostic strategies and counseling for patients with cerebellar ataxias.

Afectación por caries dentales de los pacientes con ataxia espinocerebelosa tipo 2. Posibles factores etiológicos / Tooth Decay Affectation in Type II Spinocerebellar Ataxia Patients. Possible Etiological Factors

Introducción: la caries dental es la enfermedad más frecuente que afecta al ser humano y se relaciona con varios factores etiológicos. Objetivo: determinar el grado de afectación por caries y relacionar los posibles factores etiológicos. Método: se realizó un estudio descriptivo, transversal en 26 enfermos de ataxia espinocerebelosa tipo 2 (SCA2), seleccionados mediante muestreo deliberado, ingresados en el Hospital de Medicina Natural y Tradicional en el periodo desde enero-marzo de 2011. Previo consentimiento informado, se realizó interrogatorio y examen clínico y bucal, en condiciones óptimas de ambientación e iluminación. Se precisaron datos generales y particulares de cada enfermo. Se aplicó escala para la estimación y cuantificación de ataxia (SARA) y se determinó índice COP-D y de higiene bucal de Love. Resultados: el índice COP-D de los enfermos de SCA2 resultó elevado, predominaron los dientes extraídos. El 80,76% de los pacientes tenían higiene bucal deficiente y el número de repeticiones de CAG correlacionó significativamente con la puntuación de la escala SARA (r=0,56; p=0,05) y esta a su vez con el estadio clínico de la enfermedad. Se observó una correlación lineal negativa, estadísticamente significativa (r=-0,23, p=0,00) entre los índices COP-D y de higiene bucal de Love. Conclusiones: en los pacientes atáxicos existe una higiene bucal deficiente, con gran afectación por caries dental, las que experimentan un incremento progresivo a medida que evoluciona la enfermedad, debido a un mayor deterioro motor, optando más por las extracciones dentarias, fueron indispensables acciones de prevención y promoción encaminadas a incrementar su salud bucal.

Introduction: tooth decay is the most common disease that affects humans and it is related to several etiological factors. Objective: to determining the degree of affectation by tooth decay as well as to establish some of the possible etiologic factors Methods: a descriptive study was carried out, in 26 illness patients of Spinocerebellar Ataxia type 2 (SCA2) intentionally selected, entered in the Natural and Traditional Medical hospital from January to March of 2011. There were carried out, previous informed consent, oral and clinical exam. COP-D and oral Hygiene of Love index were determined, and the relationships between clinical and molecular variables were established. Results: COP-D index of SCA2 patients was high, with a predominance of extracted teeth. 80.76% of the patients had faulty oral hygiene, and existed a significantly association between the number of CAG repetitions (r=0.56; p=0.05) with the score of SARA scale that also correlated with de clinical stage of the disease. A negative, lineal correlation between COP-D and Buccal Hygiene of Love index were found with statistically significant results (r=-0.23; p=0.00). Conclusions: ataxic patient had deficient oral hygiene, with high affectation of tooth decay, causing a progressive increase of them as the disease progresses, for that reason; the patients prefer the dental extraction. Promotional and prevention activities were necessary to propose to improve the oral health.

Value of 1H-MRS on SCA3/MJD diagnosis and clinical course / 中南大学学报(医学版)

Objective:To investigate the value of proton magnetic resonance spectroscopy (1H-MRS) on the diagnosis of SCA3/MJD,and to calculate the correlation between 1H-MRS ratio and the clinical score.Methods:Sixteen patients with SCA3/MJD and 19 healthy volunteers were scanned with 1H-MRS.The data of N-acetyl aspartate,creatine,choline-containing compounds,myoinositol,NAA/Cr,Cho/Cr,and mI/Cr ratio were collected,which were grouped for comparative study.The onset patients with SCA3/MJD were evaluated with the International Cooperative Ataxia Rating Scale and Scale for the Assessment and Rating of Ataxia,the correlation between NAA/Cr,Cho/Cr or mI/Cr ratio and the clinical score was calculated.Results:The NAA/Cr in the pons and cerebellar dentate nucleus from the onset patients with SCA3/MJD was significantly reduced compared to that in the normal control group.The NAA/Cr in the cerebellar dentate nucleus of onset patients with SCA3/MJD was obviously correlated with ICARS.Conclusion:SCA3/MJD lesions are mainly located in the cerebellum and brainstem,where gray and white mater are also involved.The cerebellar dentate nucleus may be the earliest involved area.There is a correlation between the ICARS and the cerebellar lesion degree.The ICARS reflects the severity of clinical manifestations.1H-MRS is useful in the diagnosis of SCA3/MJD.