Neurorehabilitation Improves the Motor Features in Prodromal SCA2: A Randomized, Controlled Trial.

BACKGROUND: The search for early interventions is a novel approach in spinocerebellar ataxias, but there are few studies supporting this notion. This article aimed to assess the efficacy of neurorehabilitation treatment in prodromal spinocerebellar ataxia type 2. METHODS: Thirty spinocerebellar ataxia type 2 preclinical carriers were enrolled in a randomized, controlled trial using neurorehabilitation. The intervention in the treated group was 4 hours per day, 5 days per week for 12 weeks, emphasizing static balance, gait, and limb coordination. The control group did not receive rehabilitation. The primary outcome measure was the time for 5-m tandem gait over the floor. Secondary outcomes included other timed tests with increased motor complexity, as well as the scores of the SARA and the Inventory of Non-ataxia Symptoms. RESULTS: The times for 5-m tandem gait over the floor and the mattress were significantly reduced only in the rehabilitated group. Moreover, the times upholding the tandem stance over a mattress and the seesaw were notably increased only in this group. Likewise, the finger-nose and the heel-shin tests were improved in the rehabilitated group alone. The SARA score and the count of nonataxia symptoms were unchanged. CONCLUSIONS: This rehabilitation program improves the subtle gait, postural and coordinative deficits in prodromal spinocerebellar ataxia type 2, which provided novel hints about the preservation of motor learning and neural plasticity mechanisms in early disease stages, leading chances for other interventional approaches in this and other spinocerebellar ataxias. © 2019 International Parkinson and Movement Disorder Society.

Effects of Physical Rehabilitation in Patients with Spinocerebellar Ataxia Type 7.

Today, neurorehabilitation has become in a widely used therapeutic approach in spinocerebellar ataxias; however, there are scarce powerful clinical studies supporting this notion, and these studies require extension to other specific SCA subtypes in order to be able to form conclusions concerning its beneficial effects. Therefore, in this study, we perform for the first time a case-control pilot randomized, single-blinded, cross-sectional, and observational study to evaluate the effects of physical neurorehabilitation on the clinical and biochemical features of patients with spinocerebellar ataxia type 7 (SCA7) in 18 patients diagnosed with SCA7. In agreement with the exercise regimen, the participants were assigned to groups as follows: (a) the intensive training group, (b) the moderate training group, and (c) the non-training group (control group).We found that both moderate and intensive training groups showed a reduction in SARA scores but not INAS scores, compared with the control group (p < 0.05). Furthermore, trained patients exhibited improvement in the SARA sub-scores in stance, gait, dysarthria, dysmetria, and tremor, as compared with the control group (p < 0.05). No significant improvements were found in daily living activities, as revealed by Barthel and Lawton scales (p > 0.05). Patients under physical training exhibited significantly decreased levels in lipid-damage biomarkers and malondialdehyde, as well as a significant increase in the activity of the antioxidant enzyme PON-1, compared with the control group (p < 0.05). Physical exercise improved some cerebellar characteristics and the oxidative state of patients with SCA7, which suggest a beneficial effect on the general health condition of patients.

Neurorehabilitation therapy in spinocerebellar ataxia type 2: A 24-week, rater-blinded, randomized, controlled trial.

BACKGROUND: Neurorehabilitation has become in a widely used approach in spinocerebellar ataxias, but there are scarce powerful clinical studies supporting this notion. OBJECTIVE: The objective of this study was to assess the efficacy of a 24-week neurorehabilitative treatment in spinocerebellar ataxia type 2 patients. METHODS: A total of 38 spinocerebellar ataxia type 2 patients were enrolled in a rater-blinded, 1:1 randomized, controlled trial using neurorehabilitation for 24 weeks. The treated group received 6 hours of neurorehabilitation therapy, emphasizing on balance, coordination, and muscle strengthening on weekdays, whereas the control group did not receive this intervention. Primary outcome measure was the Scale for the Assessment and Rating of Ataxia score, whereas secondary outcome measures included the count of Inventory of Non-Ataxia Symptoms and saccadic eye movement variables. RESULTS: The rehabilitated group had high levels of adherence and retention to the therapy and showed a significant decrease of Scale for the Assessment and Rating of Ataxia score at 24 weeks when compared with the controls, mainly for the gait, stance, sitting, finger chase, and heel-shin test items. Changes in Scale for the Assessment and Rating of Ataxia scores were inversely correlated with the mutation size in the rehabilitated group. The nonataxia symptom count and saccadic measures were unchanged during the study. CONCLUSIONS: A comprehensive 24-week rehabilitation program significantly improves the motor cerebellar symptoms of spinocerebellar ataxia type 2 patients as assessed by the ataxia rating score likely as result of the partial preservation of motor learning and neural plasticity mechanisms. These findings provide evidence in support of this therapeutic approach as palliative treatment in spinocerebellar ataxia type 2 suggesting its use in combination with other symptomatic or neuroprotective drugs and in prodromal stages. © 2018 International Parkinson and Movement Disorder Society.

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.(AU)

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.(AU)

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.

Oral zinc sulphate supplementation for six months in SCA2 patients: a randomized, double-blind, placebo-controlled trial.

Cuban patients with Spinocerebellar Ataxia type 2 (SCA2) have reduced concentrations of zinc in serum and cerebrospinal fluid (CSF). To assess the effect and safety of zinc supplementation, 36 Cuban SCA2 patients were randomly assigned to receive daily either 50 mg ZnSO(4) or placebo, together with neurorehabilitation therapy in a randomized, double-blind, placebo-controlled clinical trial during 6 months. Outcome measures included the changes of zinc levels in CSF and serum, ataxia score, oxidative stress and saccadic eye movements. At the end of the study, the Zinc-treated group showed: (i) a significant increase of the Zn levels in the CSF, (ii) mild decrease in the ataxia scale subscores for gait, posture, stance and dysdiadochocinesia (iii) reduction of lipid's oxidative damage, and (iv) reduction of saccadic latency when compared with the placebo group. The treatment was safe and well tolerated by all subjects. This study demonstrated the efficacy and safety of Zn supplementation, combined with neurorehabilitation for SCA2 patients and therefore it may encourage further studies on the clinical effect of zinc supplementation in SCA2 based in the conduction of future clinical trials with higher number of subjects.

Efeitos da intervenção fisioterapêutica nas habilidades funcionais e no equilíbrio de uma paciente com ataxia espinocerebelar: estudo de caso / Effects of a physical therapy intervention on balance and functional abilities of a patient with spinocerebellar ataxia: case report

As ataxias espinocerebelares (AEC) formam um grupo heterogênio de doenças degenerativas do sistema nervoso central, com disfunção cerebelar manifestada por ataxia da marcha...

Spinocerebellar ataxias (SCA) form a heterogeneous group of degenerativ diseases of the central system, where cerebellar disease of the central nervous system, where cerebellar disorders reflect in gait ataxia, incoordination, followed by pyramidal signs...

[Type 2 spinocerebellar ataxia: an experience in psychological rehabilitation]. / Ataxia espinocerebelosa tipo 2: una experiencia en la rehabilitación psicológica.

INTRODUCTION: Psychological rehabilitation in patients with neurodegenerative disorders helps to improve their quality of life and provide the most suitable approach to their disease. There are no records of this type of treatment being used in type 11 spinocerebellar ataxia. OBJECTIVES: To evaluate the efficacy of group therapy within the framework of psychological rehabilitation and determine the most favored psychological function markers. PATIENTS AND METHODS: This study is a quasi experimental study of 24 patients with type 2 spinocerebellar ataxia rehabilitated in the CIRAH (Cuba). The procedure involved psychological assessment before and after the strategy for intervention, which consisted of 15 sessions of group therapy. RESULTS: The pathological levels of anxiety were reduced in 50.1% of the cases, and 31.4% of the patients with depression improved. The self assessment markers of a taking step forward were happiness and worry level. The disorder affected all aspects of the life of the patients studied, particularly their interests, family, self esteem and work. CONCLUSIONS: It is possible to improve the attitude of the patient to his disease and his psychological function by means of group therapy during the process of psychological rehabilitation of patients with type 2 spinocerebellar ataxia.