Test-retest reliability and minimal detectable change of the Balance Evaluation Systems Test and its two abbreviated versions in persons with mild to moderate spinocerebellar ataxia: A pilot study.

BACKGROUND: The reliability of the evaluation of the Balance Evaluation Systems Test (BESTest) and its two abbreviated versions are confirmed for balance characteristics and reliability. However, they are not utilized in cases of spinocerebellar ataxia (SCA). OBJECTIVE: We aimed to examine the test-retest reliability and minimal detectable change (MDC) of the BESTest and its abbreviated versions in persons with mild to moderate spinocerebellar ataxia. METHODS: The BESTest was performed in 20 persons with SCA at baseline and one month later. The scores of the abbreviated version of the BESTest were determined from the BESTest scores. The interclass correlation coefficient (1,1) was used as a measure of relative reliability. Furthermore, we calculated the MDC in the BESTest and its abbreviated versions. RESULTS: The intraclass correlation coefficients (1,1) and MDC at 95% confidence intervals were 0.92, 8.7(8.1%), 0.91, 4.1(14.5%), and 0.81, 5.2(21.6%) for the Balance, Mini-Balance, and Brief-Balance Evaluation Systems Tests, respectively. CONCLUSIONS: The BESTest and its abbreviated versions had high test-retest reliability. The MDC values of the BESTest could enable clinicians and researchers to interpret changes in the balance of patients with SCA more precisely.

Efecto de la rehabilitación física en pacientes con ataxia espinocerebelosa hereditaria. Una revisión sistemática / Effect of physical rehabilitation in patients with hereditary spinocerebellar ataxia. A systematic review

Las evidencias sobre la efectividad de las intervenciones rehabilitadoras en las ataxias espinocerebelosas son escasas y variables. OBJETIVO: Recopilar las evidencias existentes sobre dicha efectividad. Material y MÉTODOS: Se han analizado todos los ensayos clínicos publicados hasta la fecha y evaluado los resultados obtenidos en cuanto a la mejora del equilibrio, marcha y realización de actividades diarias postratamiento. Encontramos una mejora significativa de la postura (p <0,008), marcha (p <0,02), así como una reducción de la puntuación de la subescala SARAg&p (marcha y postura) e índice SCAFI 8MW (velocidad de marcha) (p = 0,02). También observamos mejora en desórdenes del habla (p = 0,02), síntomas depresivos (p <0,0001) y caídas accidentales (p <0,005). CONCLUSIONES: A pesar de la controversia en aspectos relacionados con la intensidad, la temporalidad y la duración de las mejoras conseguidas, queda constatada la efectividad clínica del tratamiento rehabilitador en estos pacientes, especialmente en aspectos como la marcha y el equilibrio

Evidence of the effectiveness of rehabilitation interventions in spinocerebellar ataxia is scarce and variable. OBJECTIVES: The aim of this systematic review was to gather the existing evidence on the effectiveness of these interventions. MATERIAL AND METHODS: To do this, we analysed all the clinical trials published to date and assessed their results in terms of improved balance, gait, and performance of daily activities after treatment. Significant improvements were found for posture (P<.008) and gait (P<.02), as well as a reduction in the scores for the SARAg&p subscale (gait and posture) and SCAFI 8MW index (gait speed) (P=.02). We also observed improvements in speech disorders (P=.02), depressive symptoms (P<.0001) and accidental falls (P<.005)

[Effect of physical rehabilitation in patients with hereditary spinocerebellar ataxia. A systematic review]. / Efecto de la rehabilitación física en pacientes con ataxia espinocerebelosa hereditaria. Una revisión sistemática.

Evidence of the effectiveness of rehabilitation interventions in spinocerebellar ataxia is scarce and variable. OBJECTIVES: The aim of this systematic review was to gather the existing evidence on the effectiveness of these interventions. MATERIAL AND METHODS: To do this, we analysed all the clinical trials published to date and assessed their results in terms of improved balance, gait, and performance of daily activities after treatment. Significant improvements were found for posture (P<.008) and gait (P<.02), as well as a reduction in the scores for the SARAg&p subscale (gait and posture) and SCAFI 8MW index (gait speed) (P=.02). We also observed improvements in speech disorders (P=.02), depressive symptoms (P<.0001) and accidental falls (P<.005).

Airway Obstruction Caused by Mucinous Material Adherent to the Epiglottis in a Patient with a Progressive Neurological Disorder: An Unusual Case of a Condition Mimicking Acquired Laryngomalacia.

We herein report the successful management of a condition mimicking acquired laryngomalacia using conservative methods in an elderly man with a progressive neurological disorder. The patient developed stridor and was transferred to the intensive-care unit. Flexible laryngoscopy revealed a collapsed epiglottis during inspiration, as seen in acquired laryngomalacia, with mucinous material firmly adhered to the epiglottis. The stridor resolved after the removal of this material. Pathology revealed keratinized material, suggesting a collection of sputum or epithelial tissue. Thus, flexible laryngoscopy can differentiate the cause of airway obstruction and avoid unnecessary endotracheal intubation in patients with neurological disorders.

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.

Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures.

OBJECTIVE: To assess the construct validity of the 10-Meter Walk Test (10mWT), Six-Minute Walk Test (6MWT), Berg Balance Scale (BERG), and Timed Up and Go (TUG) in adults with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS), in addition to the interrater reliability of the 10mWT and 6MWT. METHODS: Reliability was determined using the intraclass correlation coefficient (ICC). Validity was determined first by correlating the 10mWT, 6MWT, BERG, and TUG with participant's age, lower limb coordination, and disease severity, and then by assessing their capacity to distinguish between participants based on sex and disease stages. RESULTS: Interrater reliability of the 10mWT at both comfortable and maximum speed as well as the 6MWT is excellent (ICC = 0.97-0.99). Construct validity of the four tests was confirmed, as showed by the high correlations with age, lower limb coordination, and overall disease severity (ρ = 0.64-0.97). CONCLUSIONS: The four tests assessed for their metrological properties in this study showed to be valid instruments to use in the ARSACS population. The 10mWT and 6MWT are also highly reliable. BERG and TUG reliability will need to be assess in a future study.

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)

Principal component analysis for ataxic gait using a triaxial accelerometer.

BACKGROUND: It is quite difficult to evaluate ataxic gait quantitatively in clinical practice. The aim of this study was to analyze the characteristics of ataxic gait using a triaxial accelerometer and to develop a novel biomarker of integrated gate parameters for ataxic gait. METHODS: Sixty-one patients with spinocerebellar ataxia (SCA) or multiple system atrophy with predominant cerebellar ataxia (MSA-C) and 57 healthy control subjects were enrolled. The subjects were instructed to walk 10 m for a total of 12 times on a flat floor at their usual walking speed with a triaxial accelerometer attached to their back. Gait velocity, cadence, step length, step regularity, step symmetry, and degree of body sway were evaluated. Principal component analysis (PCA) was used to analyze the multivariate gait parameters. The Scale for the Assessment and Rating of Ataxia (SARA) was evaluated on the same day of the 10-m walk trial. RESULTS: PCA divided the gait parameters into four principal components in the controls and into two principal components in the patients. The four principal components in the controls were similar to those found in earlier studies. The second principal component in the patients had relevant factor loading values for gait velocity, step length, regularity, and symmetry in addition to the degree of body sway in the medio-lateral direction. The second principal component score (PCS) in the patients was significantly correlated with disease duration and the SARA score of gait (ρ = -0.363, p = 0.004; ρ = -0.574, p < 0.001, respectively). CONCLUSIONS: PCA revealed the main component of ataxic gait. The PCS of the main component was significantly different between the patients and controls, and it was well correlated with disease duration and the SARA score of gait in the patients. We propose that this score provides a novel method to assess the severity of ataxic gait quantitatively using a triaxial accelerometer.

Individualized exergame training improves postural control in advanced degenerative spinocerebellar ataxia: A rater-blinded, intra-individually controlled trial.

BACKGROUND: Treatment options are rare in degenerative ataxias, especially in advanced, multisystemic disease. Exergame training might offer a novel treatment strategy, but its effectiveness has not been investigated in advanced stages. METHODS: We examined the effectiveness of a 12-week home-based training with body-controlled videogames in 10 young subjects with advanced degenerative ataxia unable or barely able to stand. Training was structured in two 6-weeks phases, allowing to adapt the training according to individual training progress. Rater-blinded clinical assessment (Scale for the Assessment and Rating of Ataxia; SARA), individual goal-attainment scoring (GAS), and quantitative movement analysis were performed two weeks before training, immediately prior to training, and after training phases 1 and 2 (intra-individual control design). This study is registered with ClinicalTrials.gov, NCT02874911). RESULTS: After intervention, ataxia symptoms were reduced (SARA -2.5 points, p < 0.01), with benefits correlating to the amount of training (p = 0.04). Goal attainment during daily living was higher than expected (GAS: 0.45). Movement analysis revealed reduced body sway while sitting (p < 0.01), which correlated with improvements in SARA posture and gait (p = 0.005), indicating training-induced improvements in posture control mechanisms. CONCLUSION: This study provides first evidence that, even in advanced stages, subjects with degenerative ataxia may benefit from individualized training, with effects translating into daily living and improving underlying control mechanisms. The proposed training strategy can be performed at home, is motivating and facilitates patient self-empowerment.

A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias: a pilot open-labeled study.

The aim of this pilot study is to test the feasibility and effectiveness of a wearable proprioceptive stabilizer that emits focal mechanical vibrations in patients affected by hereditary cerebellar ataxias. Eleven adult patients with a confirmed genetic diagnosis of autosomal dominant spinocerebellar ataxia or Friedreich's ataxia were asked to wear an active device for 3 weeks. Assessments were performed at baseline, after the device use (T1), and 3 weeks after (T2). SARA, 9-HPT, PATA, 6MWT, and spatial and temporal gait parameters, measured with a BTS-G-Walk inertial sensor, were used as study endpoints. As expected, no adverse effects were reported. Statistically significant improvements in SARA, 9HPT dominant hand, PATA test, 6MWT, cadence, length cycle, support right/cycle, support left/cycle, flight right/cycle, flight left/cycle, double support right/cycle, double support left/cycle, single support right/cycle, and single support left/cycle were observed between T0 and T1. All parameters improved at T1 did not show statistically significant differences a T2, with the exception of length of cycle. This small open-labeled study shows preliminary evidence that focal mechanical vibration exerted by a wearable proprioceptive stabilizer might improve limb and gait ataxia in patients affected by hereditary cerebellar ataxias.

Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study.

Spinocerebellar ataxia type 31 (SCA31) is known as a late-onset, relatively pure cerebellar form of ataxia, but a longitudinal prospective study on the natural history of SCA31 has not been done yet. In this prospective cohort study, we enrolled 44 patients (mean ± standard deviation 73.6 ± 8.5 years) with genetically confirmed SCA31 from 10 ataxia referral centers in the Nagano area, Japan. Patients were evaluated every year for 4 years using the Scale for the Assessment and Rating of Ataxia (SARA) and the Barthel Index (BI). Of the 176 follow-up visits (91.5%), 161 were completed in this study. Five patients (11.4%) died during the follow-up period, and two patients (4.5%) were lost to follow-up. The annual progression of the SARA score was 0.8 ± 0.1 points/year and that of the BI was -2.3 ± 0.4 points/year (mean ± standard error). Shorter disease duration at baseline was associated with faster progression of the SARA score. Our study indicated the averaged clinical course of SCA31 as follows: the patients develop ataxic symptoms at 58.5 ± 10.3 years, become wheelchair bound at 79.4 ± 1.7 years, and died at 88.5 ± 0.7 years. Our prospective dataset provides important information for clinical trials of forthcoming disease-modifying therapies for cerebellar ataxia. It also represents a useful resource for SCA31 patients and their family members in genetic counseling sessions.

Cycling regimen induces spinal circuitry plasticity and improves leg muscle coordination in individuals with spinocerebellar ataxia.

OBJECTIVES: To compare the reciprocal control of agonist and antagonist muscles in individuals with and without spinocerebellar ataxia (SCA) and to evaluate the effect of a 4-week leg cycling regimen on functional coordination and reciprocal control of agonist and antagonist muscles in patients with SCA. DESIGN: Randomized controlled trial with repeated measures. SETTING: Research laboratory in a general hospital. PARTICIPANTS: Individuals with SCA (n=20) and without SCA (n=20). INTERVENTIONS: A single 15-minute session of leg cycling and a 4-week cycling regimen. MAIN OUTCOME MEASURES: Individuals with SCA (n=20) and without SCA (n=20) underwent disynaptic reciprocal inhibition and D1 inhibition tests of the soleus muscles before and after a single 15-minute cycling session. Individuals with SCA were randomly assigned to either participate in 4 weeks of cycling training (n=10) or to receive no training (n=10). The disynaptic reciprocal inhibition and D1 inhibition and International Cooperative Ataxia Rating Scale (ICARS) scores were evaluated in both groups after 4 weeks. RESULTS: Individuals with SCA showed abnormally strong resting values of disynaptic reciprocal inhibition and D1 inhibition (P<.001) and impaired inhibition modulation capacity after a single 15-minute session of cycling (P<.001). The inhibition modulation capacity was restored (P<.001), and the ICARS scores improved significantly (pre: 13.5±9.81, post: 11.3±8.74; P=.046) after 4 weeks of cycling training. CONCLUSIONS: A 4-week cycling regimen can normalize the modulation of reciprocal inhibition and functional performance in individuals with SCA. These findings are applicable to the coordination training of patients.

The Virtual Peg Insertion Test as an assessment of upper limb coordination in ARSACS patients: a pilot study.

OBJECTIVE: This paper introduces a novel assessment tool to provide clinicians with quantitative and more objective measures of upper limb coordination in patients suffering from Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS). The Virtual Peg Insertion Test (VPIT) involves manipulating an instrumented handle in order to move nine pegs into nine holes displayed in a virtual environment. The main outcome measures were the number of zero-crossings of the hand acceleration vector, as a measure of movement coordination and the total time required to complete the insertion of the nine pegs, as a measure of overall upper limb performance. RESULTS: 8\9 patients with ARSACS were able to complete five repetitions with the VPIT. Patients were found to be significantly less coordinated and slower than age-matched healthy subjects (p<0.01). Performance of ARSACS patients was positively correlated with the Nine-Hole Peg Test (r=0.85, p<0.01) and with age (r=0.93, p<0.01), indicative of the degenerative nature of the disease. CONCLUSION(S): This study presents preliminary results on the use of a robotics and virtual reality assessment tool with ARSACS patients. Results highlight its potential to assess impaired coordination and monitor its progression over time.

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.

"Six sessions is a drop in the ocean": an exploratory study of neurological physiotherapy in idiopathic and inherited ataxias.

OBJECTIVE: An exploratory study to examine specialist neurological physiotherapy service provision and utilisation for people with progressive ataxia. DESIGN: Qualitative study involving thematic analysis of accounts in semi-structured interviews with physiotherapists and patients. SETTING: People with ataxia and specialist neuro-rehabilitation physiotherapists in Greater Manchester, UK. PARTICIPANTS: 38 people with ataxia and 8 neurological-physiotherapists working in academic and hospital and community-based services in NHS and private settings. Recruiting physiotherapists experienced in working with the patient group was a challenge. INTERVENTIONS: One hour cross-sectional semi-structured interview at physiotherapists' workplaces or in patients' own homes. RESULTS: Neurological physiotherapy was experienced by 25 (66%) of the 38 people with ataxia. The overarching themes emerging from the analysis were 'making a difference,' engagement and service provision. A majority of both samples felt that services should be organised so as to provide longer term therapy and support that goes beyond short care packages followed by provision of home exercise programme. Engagement with services was linked to patient expectations, adherence and perception of outcomes. The most predominant codes in the data set were encapsulated by the theme 'making a difference,' which further included concerns about how to measure perceived clinical improvement (as experienced by patients) in the context of progressive decline. CONCLUSIONS: The findings suggest a model of idealised service provision involving a holistic, open-access service including research efforts to improve the evidence base. Special attention needs to be paid to measuring improvements following therapy.

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.

Consistent affection of the central somatosensory system in spinocerebellar ataxia type 2 and type 3 and its significance for clinical symptoms and rehabilitative therapy.

The spinocerebellar ataxias type 2 (SCA2) and type 3 (SCA3) are progressive, currently untreatable and ultimately fatal ataxic disorders, which belong to the group of neurological disorders known as CAG-repeat or polyglutamine diseases. Since knowledge regarding the involvement of the central somatosensory system in SCA2 and SCA3 currently is only fragmentary, a variety of somatosensory disease signs remained unexplained or widely misunderstood. The present review (1) draws on the current knowledge in the field of neuroanatomy, (2) describes the anatomy and functional neuroanatomy of the human central somatosensory system, (3) provides an overview of recent findings regarding the affection of the central somatosensory system in SCA2 and SCA3 patients, and (4) points out the underestimated pathogenic role of the central somatosensory system for somatosensory and somatomotor disease symptoms in SCA2 and SCA3. Finally, based on recent findings in the research fields of neuropathology and neural plasticity, this review supports currently applied and recommends further neurorehabilitative approaches aimed at maintaining, improving, and/or recovering adequate somatomotor output by enforcing and changing somatosensory input in the very early clinical stages of SCA2 and SCA3.