Neurological Evaluation of Patients with Newly Diagnosed Coeliac Disease Presenting to Gastroenterologists: A 7-Year Follow-Up Study.

We have previously shown that 67% of patients with newly diagnosed coeliac disease (CD) presenting to gastroenterologists have evidence of neurological dysfunction. This manifested with headache and loss of co-ordination. Furthermore 60% of these patients had abnormal brain imaging. In this follow-up study, we re-examined and re-scanned 30 patients from the original cohort of 100, seven years later. There was significant reduction in the prevalence of headaches (47% to 20%) but an increase in the prevalence of incoordination (27% to 47%). Although those patients with coordination problems at baseline reported improvement on the gluten free diet (GFD), there were 7 patients reporting incoordination not present at baseline. All 7 patients had positive serology for one or more gluten-sensitivity related antibodies at follow-up. In total, 50% of the whole follow-up cohort were positive for one or more gluten-related antibodies. A comparison between the baseline and follow-up brain imaging showed a greater rate of cerebellar grey matter atrophy in the antibody positive group compared to the antibody negative group. Patients with CD who do not adhere to a strict GFD and are serological positive are at risk of developing ataxia, and have a significantly higher rate of cerebellar atrophy when compared to patients with negative serology. This highlights the importance of regular review and close monitoring.

Aplicación clínica del test «Detenerse al andar mientras se habla» (Stop walking while talking test). Relación con parámetros funcionales y otras pruebas de marcha y equilibrio / Clinical application of the 'Stop walking while talking test'. Relationship with geriatric assessment parameters and other tests of balance and gait

Objetivo. Estudiar la relación entre el test Stop walking while talking (SWWT) y los parámetros de valoración geriátrica y otras pruebas de equilibrio y marcha. Pacientes y métodos. Estudio prospectivo, observacional y transversal de 108 pacientes (62% mujeres), edad media: 80,5±8,4. Veintitrés vivían en el domicilio, 24 en una residencia y 61 estaban ingresados en una unidad de convalecencia. Se registró: índice de Barthel, Mini-mental state examination of Folstein (MMSE), comorbilidad (Charlson), la presencia de caída previa y miedo a caer. Se les aplicó a todos ellos el test Timed up and go (TUG), el test de Tinetti y el test SWWT. Según el SWWT los pacientes se dividieron en 2 grupos: stoppers y non-stoppers. Todos tenían capacidad de deambulación (con o sin ayudas). Resultados. Los del grupo de stoppers presentaron medias de edad 82,2±8,7; Barthel 64,6±20,7; MMSE 21,6±5,1; Charlson 1,8±1,7 y los non-stoppers de 78,5±7,6 (p=0,024), 86,0±18,1 (p<0,001), 24,3±4,0 (p=0,004) y 1,3±1,6 (p=0,130), respectivamente. De los 58 stoppers 39 (67,2%) tuvieron caída previa y 19 (32,8%) no (p=0,002); 43 (74,1%) miedo a caer y 15 (25,9%) no (p<0,009). De los 63 pacientes con TUG>20seg, 52 (82,5%) eran stoppers y 11 (17,5%) non-stoppers; de los 31 con TUG entre 10-20seg, 5 (16,1%) y 26 (83,9%); de los 14 con TUG<10, uno (7,1%) y 13 (92,9%) (p<0,0001), respectivamente. La puntuación en el test de Tinetti fue 15,4±5,1 y 23,9±4,6 (p<0,001), respectivamente. Conclusiones. El grupo de stoppers presentaba mayor edad, dependencia, deterioro cognitivo, caída previa, miedo a caer, puntuaciones inferiores en el test de Tinetti y tiempos más prolongados en el TUG (AU)

Objective. To assess the relationship between the Stop Walking While Talking (SWWT) test and some parameters of the geriatric assessment, as well as other tests of balance and gait. Patients and methods. A prospective, observational and cross-sectional study conducted on 108 patients (62% women), with a mean age of 80.5±8.4 years. Twenty-three of them were living at home, 24 in a nursing home, and 61 in an intermediate care unit. A record was made of the Barthel index, Mini-Mental State Examination of Folstein (MMSE), comorbidity (Charlson index), the presence of previous falls, and fear of falling. Timed Up and Go (TUG), Tinetti test, and Stop Walking While Talking (SWWT) test, were performed on all the patients. Based on the results of the SWWT test patients were divided in two groups: "stoppers" and "non-stoppers". All patients were able to walk (with or without walking aids). Results. The stoppers group of patients had a mean age 82.2±8.7; Barthel index 64.6±20.7; MMSE 21.6±5.1; Charlson index 1.8±1.7, and the non-stoppers 78.5±7.6 (P=.024), 86.0±18.1 (P<.001), 24.3±4.0 (P=.004), and 1.3±1.6 (P=.130), respectively. Of the 58 stoppers patients, 39 (67.2%) had a previous fall, and 19 (32.8%) had not (P=.002); 43 (74.1%) had fear of falling, and 15 (25.9%) had not (P<0.009). Of the 63 patients with TUG>20seconds, 52 (82.5%) were stoppers and 11 (17.5%) non-stoppers. Of the 31 with TUG between 10-20seconds, 5 (16.1%) were stoppers and 26 (83.9%) non-stoppers. Of the 14 with TUG<10 seconds, 1 (7.1%) were stoppers, and 13 (92.9%) non-stoppers (P<0.0001). The score of Tinetti test in the stoppers group was 15.4±5.2, and in non-stoppers 23.9±4.6 (P<0.001). Conclusions. Those in the stopper group were significantly older, were more dependent in activities of daily living, had greater cognitive impairment, more previous falls, had greater fear of falling, lower scores on the Tinetti test, and longer times in the TUG (AU)

Repercusión de la somnolencia sobre la calidad del equilibrio y la marcha / Sleepiness repercussion on gait and balance

No disponible

Análisis de la marcha y fisioterapia Bobath en adultos con síndrome de Down / Gait analysis and Bobath physiotherapy in adults with Down syndrome

Introducción. El síndrome de Down (SD) es un trastorno cromosómico de expresión fenotípica variable, aunque con rasgos comunes en los distintos pacientes. Entre ellos, destaca la hipotonía, hiperlaxitud ligamentosa y el retraso en el desarrollo psicomotor. Estos rasgos mejoran con la terapia temprana, pero persisten en forma de inestabilidad de la marcha y compensaciones patológicas en el adulto. La marcha patológica en estos pacientes ha sido objeto de estudios previos, pero el tratamiento de los problemas motores no ha sido abordado desde un enfoque neurorrehabilitador, dirigido a la calidad del funcionamiento. Objetivos. El propósito del presente estudio es describir las alteraciones de la marcha en una muestra de pacientes con SD y evaluar los cambios después del tratamiento con fisioterapia Bobath. Material y métodos. Estudio prospectivo experimental de tipo ensayo no controlado. Diez personas adultas con SD (edad media: 28 años) fueron evaluadas en situación basal y después de 10 sesiones de fisioterapia Bobath. Se recogieron variables cuantitativas (como longitud del paso, velocidad de la marcha) y variables cualitativas (como calidad del braceo o inestabilidad) a través de un evaluador ciego al tratamiento fisioterápico. Resultados. Se encontraron claras desviaciones respecto a la marcha adulta normal y una tendencia a la mejoría después del tratamiento fisioterápico. Esta mejoría fue significativa en la corrección del ángulo y en la simetría del paso. Se pone de manifiesto el potencial beneficio de la fisioterapia en adultos con SD y alteraciones de la marcha, así como la necesidad de realizar más estudios en este sentido (AU)

Introduction. Down syndrome (DS) is a chromosomal disorder with variable phenotypic expression, although different patients share some common features. Among them, hypotonia, ligament laxity and delayed psychomotor development stand out. These traits can improve with early therapy, but remain as gait instability and pathologic compensatory strategies in adult patients. Pathological gait in DS patients has been studied previously, but the treatment of motor problems has not been approached from a neurological rehabilitation viewpoint, focused on quality of function. Objectives. The aim of this study was to describe the gait alterations in a sample of patients with DS and to assess changes after Bobath physiotherapy. Material and methods. An experimental prospective uncontrolled study was performed. Ten adults with DS (mean age: 28 years) were assessed at baseline and after 10 sessions of Bobath physiotherapy treatment. Quantitative data (such as step length or walking speed) and qualitative data (such as characteristics of arm movements and instability) were recorded by an evaluator blinded to the treatment received. Results. Clear deviations with respect to normal adult gait were found, and a trend towards improvement after physiotherapy treatment. The results were significant in the correction of pitch angle and its symmetry. The study has revealed the potential benefits of physiotherapy in adults with DS and the need to complete more studies in this sense (AU)

Caídas en la población anciana española: incidencia, consecuencias y factores de riesgo / Falls in the Spanish elderly population: incidence, consequences and risk factors

Introducción. Las caídas en los ancianos son un problema de salud pública. El objetivo de este estudio es obtener datos españoles y actualizados sobre la frecuencia de caídas en la población mayor, sus repercusiones y los factores de riesgo asociados a las mismas. Material y métodos. Estudio prospectivo sobre una muestra probabilística de 772 ancianos españoles, residentes en la comunidad, que fueron seguidos durante un año. En la visita basal se recogieron datos sobre su capacidad funcional, historia de caídas, antecedentes patológicos, número de fármacos, alteraciones del equilibrio, ayudas para la marcha, capacidad cognitiva y síntomas depresivos. El seguimiento se realizó mediante llamadas telefónicas trimestrales en las que se registraron el número de caídas del periodo, datos sobre sus consecuencias y sobre el uso de recursos sanitarios. Resultados. El 28,4% (IC95% 24,9-32,1) de los participantes presentaron una o más caídas anuales. El 9,9% (IC95% 7,4-11,4) tuvieron múltiples caídas. Un tercio de las caídas fueron por causa extrínseca accidental. El 9,3% de las personas que cayeron tuvieron fracturas (el 3,1% tuvieron fractura de cadera) y el 55,4% requirió asistencia médica (el 29% en urgencias hospitalarias; un 7,3% fueron ingresados). Los factores de riesgo identificados en análisis multivariante fueron: edad avanzada (> 79 años), no tener pareja, consumir más de 2 fármacos, dependencia para ABVD, disminución de fuerza o equilibrio y marcha con ayuda técnica. Conclusiones. Las caídas siguen siendo un problema de salud pública de primer orden. Algunos de los factores de riesgo asociados son modificables, por lo que impera la implantación de programas encaminados a reducir el problema (AU)

Introduction. Falls in the elderly constitute a public health concern. The objective of the present study was to collect updated data on the frequency of falls in the Spanish elderly population, as well as to analyse their consequences and associated risk factors. Material and methods. This prospective study was conducted on a probabilistic sample of 772 Spanish, community dwelling, older adults. During the baseline visit, data were collected on functional capacity, history of falls, disease background, number of medications used, balance impairment, use of walking aids, cognitive capacity and depression symptoms. Participants were followed up for one year by means of quarterly phone calls, where they were asked about the number of falls occurred in that period, as well as their consequences and associated use of healthcare resources. Results. During the one-year follow up period, 28.4% (95%CI 24.9-32.1) of participants suffered one or more falls, while 9.9% (95%CI 7.4-11.4) suffered multiple falls. One-third of the falls were due to accidental extrinsic causes. Among participants who had suffered falls, 9.3% suffered a fracture (3.1% hip fracture), and 55.4% required healthcare services (29% were managed in the hospital emergency room, and 7.3% were admitted to hospital). Risk factors identified through multivariate analysis were: advanced age (> 79 years), not having a companion, using more than 2 drugs, dependency in BADLs, impaired strength or balance, and use of walking aids. Conclusions. Falls continue to be a major public health concern in Spain. Given that some of the associated risk factors may be modified, introducing programs aimed at tackling this problem should be regarded as a priority (AU)

Relación entre circunferencia de la pantorrilla y velocidad de la marcha en pacientes adultos mayores en Lima, Perú / Calf circumference and its association with gait speed in elderly participants at Peruvian Naval Medical Center

Objetivo. Conocer la asociación entre la circunferencia de pantorrilla y velocidad de la marcha en pacientes adultos mayores del Servicio de Geriatría del Centro Médico Naval. Material y métodos. Estudio de tipo descriptivo, transversal y de correlación. Se midió el perímetro de mayor circunferencia de la pantorrilla en la pierna izquierda (pierna derecha de las personas zurdas) y la velocidad de la marcha en pacientes mayores de 65 años. Se realizó un análisis bivariado para evaluar la asociación entre la circunferencia de la pantorrilla y la velocidad de la marcha construyendo un modelo de regresión logística sobre la velocidad de la marcha ajustado por circunferencia de pantorrilla, estado funcional y edad. Resultados. El promedio de edad fue de 79,37 ± 8,71 años. El 59,71% perteneció al sexo masculino, el 30,97% presentó una marcha de velocidad lenta y la media de la circunferencia de pantorrilla fue 33,42 ± 5,61 cm. En el análisis bivariado, la circunferencia de la pantorrilla tuvo una media de 30,35 ± 3,74 cm en los participantes con velocidad de la marcha lenta (< 0,8 m/seg), significativamente menor al grupo de marcha normal que obtuvo una media de 33,51 ± 3,26 cm. Mediante un modelo de regresión logística para evaluar las variables asociados con velocidad de la marcha lenta, la circunferencia de la pantorrilla, el estado funcional y la edad presentaron asociación estadísticamente significativa. Conclusiones. A menor circunferencia de la pantorrilla, encontramos disminución de la velocidad de la marcha en la población mayor de 65 años (AU)

Objective. To evaluate the association between calf circumference and gait speed in elderly patients 65 years or older at Geriatric day clinic at Peruvian Centro Médico Naval. Material and methods. Cross-sectional, retrospective study. We assessed 139 participants, 65 years or older at Peruvian Centro Médico Naval including calf circumference, gait speed and Short Physical Performance Battery. With bivariate analyses and logistic regression model we search for association between variables. Results. The age mean was 79.37 years old (SD: 8.71). 59.71% were male, the 30.97% had a slow walking speed and the mean calf circumference was 33.42 cm (SD: 5.61). After a bivariate analysis, we found a calf circumference mean of 30.35 cm (SD: 3.74) in the slow speed group and, in normal gait group, a mean of 33.51 cm (SD: 3.26) with significantly differences. We used logistic regression to analyze association with slow gait speed, founding statistically significant results adjusting model by disability and age. Conclusion. Low calf circumference is associated with slow speed walk in population over 65 years old (AU)

Etiología de la ataxia aguda en urgencias pediátricas: experiencia de 11 años / Etiology of acute ataxia in pediatric emergencies: 11 years experience

Las alteraciones en la marcha son un motivo de consulta habitual en las urgencias pediátricas; sin embargo, los casos de verdadera marcha atáxica son muy infrecuentes en los pacientes pediátricos. La principal preocupación del profesional de urgencias radica en excluir las causas graves de este síndrome clínico; afortunadamente, en la mayoría de casos en la infancia, su origen suele ser un proceso benigno y autolimitado. Dentro de las ataxias adquiridas, la forma más habitual de presentación en los servicios de urgencias suele ser la aguda, cuya evolución es menor de 72 horas en un niño previamente sano. En esta revisión hemos analizado los casos de ataxia adquirida valorados en nuestro servicio de urgencias pediátricas durante un periodo de 11 años, así como su enfoque diagnóstico. En nuestra serie, la causa más frecuente de ataxia aguda fue la postinfecciosa (un 39,13% del total), seguida de las de origen tumoral (17,39%) y las intoxicaciones (13,04%) (AU)

Changes in gait are a common reason for consultation in pediatric emergencies, however cases of true gait ataxia are rare in pediatric patients. The main concern of professional emergency lies in the exclusion of serious causes of this clinical syndrome, fortunately in most cases the origin in childhood is usually benign and self-limiting process. Among the acquired ataxias, the most common form of presentation in the pediatric emergency is usually that of acute ataxia, which are those whose evolution is less than 72 hours in a previously healthy child. In this review we have analyzed the cases of acquired ataxia evaluated in our pediatric emergency department during a period of 11 years and what was the diagnostic approach. In our series of cases the most common cause of acute ataxia was postinfectious (39.13% of total), followed by the tumoral origin (17.39%) and secondary to ingestion of toxic agents (13.04%) (AU)

Geospatial association of endemicity of ataxic polyneuropathy and highly cyanogenic cassava cultivars.

BACKGROUND: Exposure to cyanide from cassava foods is present in communities where ataxic polyneuropathy is endemic. Ataxic polyneuropathy is endemic in coastal parts of southwest and southeast Nigeria, and coastal Newala, south India, but it has been reported in epidemic or endemic forms from Africa, Asia, or Caribbean. This study was done to determine if cyanogenicity of cassava cultivars is higher in lowland than highland areas, and if areas of endemicity of ataxic polyneuropathy colocalize with areas of highest cyanogenicity of cassava. METHODS: Roots of cassava cultivars were collected from 150 farmers in 32 of 37 administrative areas in Nigeria. Global positioning system was used to determine the location of the roots. Roots were assayed for concentrations of cyanogens. Thin Plate Spline regression was used to produce the contour map of cyanogenicity of the study area. Contour maps of altitude of the endemic areas were produced. Relationship of cyanogenicity of cassava cultivars and altitude, and of locations of areas of high cyanogenicity and areas of endemicity were determined. RESULTS: Geometrical mean (95% CI) cyanogen concentration was 182 (142-233) mg HCN eq/kg dry wt for cassava cultivars in areas ≤ 25 m above sea level, but 54 (43-66) mg HCN eq/kg dry wt for areas > 375 m. Non-spatial linear regression of altitude on logarithm transformed concentrations of cyanogens showed highly significant association, (p < 0.0001). Contour map of concentrations of cyanogens in cassava cultivars in Nigeria showed four areas with average concentrations of cassava cyanogens > 250 mg HCN eq/kg dry wt, and one area of moderately high cyanogen concentration > 150 mg HCN eq/kg dry wt. The endemic areas colocalized with areas of highest cassava cyanogenicity in lowland areas close to the Atlantic Ocean. CONCLUSION: This study shows strong geospatial association of areas of endemicity of ataxic polyneuropathy and areas of highest cyanogenicity of cassava cultivars. Finding of higher cyanogenicity of cassava in lowland than highland areas indicate strong influence of altitude on expression of cyanogens in cassava cultivars.

Relationship between fatigue and gait abnormality in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterised by joint hypermobility, skin hyperextensibility and tissue fragility. It has recently been shown that muscle weakness occurs frequently in EDS, and that fatigue is a common and clinically important symptom. The aim of this study was to investigate the relationship between fatigue severity and the gait pattern using 3D Gait Analysis (GA). Eleven individuals with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility type (JHS/EDS-HT) were investigated using muscle strength measured with standardised questionnaire measuring fatigue (Fatigue Severity Scale, FSS) and quantitative 3D GA. Our data showed that FSS value well correlated with the peak of vertical component of ground reaction force (r=-0.66, p<0.05). The negative correlation gives evidence that the higher the fatigue is the more reduced force is during gait. Our results showed that the ground reaction force has been applied as a functional evaluation score for detecting pathology in gait of JHS/EDS-HT participants and the found correlation between vertical force and fatigue demonstrated that muscle fatigue may be associated with a loss of proprioceptive acuity in lower limb muscles.

Reproducibilidad de las variables temporales y cinéticas del análisis computarizado de la marcha en sujetos normales / Reproductability of the temporal and kinetic variables of the computerized analysis of gait in normal subjects

El laboratorio de análisis de movimiento se ha convertido en el estándar para el análisis del paciente con trastornos de la marcha. El propósito de este estudio fue evaluar la variabilidad entre pruebas, de los parámetros temporales y cinemáticos que componen el índice de la marcha de Gillette (Gillette gait index [GGI]) y el índice de desviación de la marcha (Gait deviation index [GDI]) en pacientes normales, además de si el GDI es consistente en las diferentes mediciones para analizar la marcha en pacientes sin alteración. Materiales y métodos. Para evaluar nuestra hipótesis se tomó una muestra por conveniencia de 20 individuos sanos, a cada individuo se le realizaron dos estudios de análisis de marcha, con un intervalo de dos semanas entre cada estudio. Para evaluar la reproducibilidad de las pruebas se utilizó el coeficiente de correlación intraclase (CCI). Resultados. Se encontró una buena concordancia en la mayoría de las variables utilizadas excepto en los parámetros transversos en cadera y sagitales en tobillo en donde el CCI fue de 0,49 y 0,53. Conclusión. En conclusión, encontramos que la realización del análisis de marcha mediante el laboratorio de análisis de movimiento presenta una buena reproducibilidad y concordancia entre pruebas realizadas en diferentes días en pacientes normales, lo que nos permite recomendarlo como un método confiable para evaluar de manera objetiva alteraciones de la marcha(AU)

The movement analysis laboratory has become the standard to analyze gait disorders of the patient. This study has aimed to evaluate the intra-test variability of the spatiotemporal and kinematic parameters that make up the Gillette gait endex (GGI) and the Gait deviation index (GDI) in normal patients. We have also investigated the consistency of the GDI in different measurements to analyze gait in normal patients. Materials and methods. A sample of 20 healthy subjects was used to evaluate our hypothesis. Each subject underwent two gait analysis with an interval of two weeks between each analysis. The intraclass correlation coefficient (ICC) was used to evaluate the reproducibility of the tests. Results. Good agreement was found in most of the variables used with the exception of the transverse parameters for the hip and sagittal parameters for the ankle in which the ICC was 0.49 and 0.53, respectively. Conclusion. In conclusion, we found that the gait analysis procedure carried out using the motion analysis laboratory has good reproducibility and agreement among tests conducted on different days in normal subjects. This allows us to recommend this procedure as a reliable method to objectively evaluate gait alterations(AU)

[Walking and ageing]. / Marche et vieillissement.

As we get older, our gait changes insidiously with a tendency for us to walk more slowly, to take shorter strides and to increase the time when both feet are on the ground. Four major factors are most often found interlinked in walking problems in the elderly. Being more aware of them enables healthcare teams to adapt the care provided to elderly patients.

[Anti-MAG paraproteinemic demyelinating polyneuropathy: a clinical, biological, electrophysiological and anatomopathological descriptive study of a 13-patients' cohort]. / Les polyneuropathies avec IgM monoclonale anti-MAG : étude descriptive clinique, biologique, électrophysiologique et anatomopathologique d'une cohorte de 13 patients.

INTRODUCTION: Polyneuropathies associated with IgM paraproteinemia and anti-myelin associated glycoprotein (MAG) antibodies (MAG-PN) have to be differentiated from chronic inflammatory demyelinating polyneuropathies. METHODS: In a retrospective study, we have analyzed clinical, electrophysiological, biological and pathological data from MAG-PN patients. RESULTS: Seven male and six female patients were followed in the department for a mean 2 years (0.5-6.5 years). Mean age at diagnosis was 61 years (44.5-85.5 years). Patients had symmetrical bilateral paresthesia (11/13) and hypoesthesia (11/13) prominent in the lower limbs. Nine patients developed gait ataxia and four patients had moderate distal weakness in the lower limbs. Mean Overall Neuropathy Limitation Scale was 2.3 (0-5). Nerve conduction study showed demyelinating features though delayed distal motor latency on median (206 % of normal value) and ulnar nerves (150% of normal value). Seven out of thirteen patients had at least two nerves with terminal latency index below 0.25. IgM paraproteinemia was of undetermined significance in ten cases and three patients had non-Hodgkin lymphoma. IgM deposits and widening of the peripheral myelin were observed in 5/7 sural nerve biopsies. Anti-MAG antibodies were detected in the sera of all patients using enzyme-linked immunosorbent assay and in 8/12 patients using western blot analysis. CONCLUSIONS: MAG-PN have distinctive clinical, electrophysiological and pathological features. It is a chronic, slowly progressive, predominantly sensory and ataxic neuropathy. Disability is usually moderate. Electrophysiological study shows distal demyelinating process and is highly suggestive of MAG-PN in more than one half of our patients. Several techniques may detect anti-MAG antibodies, they have to be associated to improve sensitivity and specificity of the test.

Disease suspected to be caused by Ross River virus infection of horses.

Ross River Virus (RRV) was believed to be the cause of acute illness in four horses around the Bellarine peninsula in south-west Victoria, Australia. The horses presented with clinical signs including petechial haemorrhages, lymphadenopathy, distal limb swelling and reluctance to move. Fibrinogen was also elevated in three of the four horses. Whilst no virus was isolated, serological testing revealed elevated RRV IgM titres in all horses indicating acute infection. The outbreak occurred at a time when a known RRV vector, the mosquito Aedes camptorhynchus was recorded at very high levels in the region. This report is one of very few to attribute specific signs of disease to RRV in horses in conjunction with serological evidence of infection.

Measuring Friedreich ataxia: complementary features of examination and performance measures.

OBJECTIVE: To examine the potential validity of performance measures and examination-based scales in Friedreich ataxia (FA) by examining their correlation with disease characteristics. METHODS: The authors assessed the properties of a candidate clinical outcome measure, the Friedreich Ataxia Rating Scale (FARS), and simple performance measures (9-hole peg test, the timed 25-foot walk, PATA test, and low-contrast letter acuity) in 155 patients with FA from six institutions, and correlated the scores with disease duration, functional disability, activity of daily living scores, age, and shorter GAA repeat length to assess whether these measures capture the severity of neurologic dysfunction in FA. RESULTS: Scores for the FARS and performance measures correlated significantly with functional disability, activities of daily living scores, and disease duration, showing that these measures meet essential criteria for construct validity for measuring the progressive nature of FA. In addition, the FARS and transformed performance measures scores were predicted by age and shorter GAA repeat length in linear regression models accounting for sex and testing site. Correlations between performance measures were moderate in magnitude, suggesting that each test captures separate yet related dimensions of neurologic function in FA and that a composite measure might better predict disease status. Composite measures created using cohort means and standard deviations predicted disease status better than or equal to single performance measures or examination-based measures. CONCLUSIONS: The Friedreich Ataxia Rating Scale, performance measures, and performance measure composites provide valid assessments of disease progression in Friedreich ataxia.

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.

Mutations in the catalytic subunit of the mitochondrial DNA polymerase gamma (POLG) have been found to be an important cause of neurological disease. Recently, we and collaborators reported a new neurodegenerative disorder with autosomal recessive ataxia in four patients homozygous for two amino acid changes in POLG: W748S in cis with E1143G. Here, we studied the frequency of this allele and found it to be among the most common genetic causes of inherited ataxia in Finland. We identified 27 patients with mitochondrial recessive ataxia syndrome (MIRAS) from 15 Finnish families, with a carrier frequency in the general population of 1 : 125. Since the mutation pair W748S+E1143G has also been described in European patients, we examined the haplotypes of 13 non-Finnish, European patients with the W748S mutation. Haplotype analysis revealed that all the chromosomes carrying these two changes, in patients from Finland, Norway, the United Kingdom, and Belgium, originate from a common ancient founder. In Finland and Norway, long, common, northern haplotypes, outside the core haplotype, could be identified. Despite having identical homozygous mutations, the Finnish patients with this adult- or juvenile-onset disease had surprisingly heterogeneous phenotypes, albeit with a characteristic set of features, including ataxia, peripheral neuropathy, dysarthria, mild cognitive impairment, involuntary movements, psychiatric symptoms, and epileptic seizures. The high carrier frequency in Finland, the high number of patients in Norway, and the ancient European founder chromosome indicate that this newly identified ataxia should be considered in the first-line differential diagnosis of progressive ataxia syndromes.

Rigidity and bradykinesia reduce interlimb coordination in Parkinsonian gait.

OBJECTIVE: To assess the influence of rigidity and bradykinesia and the extent of dopaminergic degeneration on interlimb coordination during walking in early, drug-naive patients with Parkinsons disease (PD). DESIGN: The interlimb coordination was examined during a systematic manipulation of walking speed on a treadmill. The phase relations between arm and leg movements were related to the clinical measures of rigidity and bradykinesia as well as to the extent of dopaminergic degeneration. SETTING: Movement disorders outpatient clinic (including motion analysis laboratory) and a nuclear medicine department of a university hospital. PARTICIPANTS: Twenty-nine early and drug-naive PD patients. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: The interlimb coordination during walking was evaluated by studying the (continuous) relative phase relations between movements of arms and legs. The clinical assessment of rigidity and bradykinesia was performed by using the Unified Parkinson Disease Rating Scale. The dopaminergic degeneration was expressed as striatal 2beta-carboxymethoxy-3beta-(4-iodophenyl) tropane (beta-CIT) single-photon emission computed tomography (SPECT) binding. RESULTS: The mean relative phase between arm and leg movements increased significantly with walking speed in all patients. Significant correlations were found between the rigidity and bradykinesia and the coordination measures ( P

Predictors of outcome in patients with normal-pressure hydrocephalus.

Despite knowledge emerging over the last 40 years, the postoperative results after shunt implantation in patients diagnosed with normal-pressure hydrocephalus (NPH) have not improved significantly over the last decade. For that reason predictors have to be identified in order to preoperatively predict outcome. From 1982 to 2000 we prospectively studied 200 patients diagnosed with NPH. From the patients, who were surgically treated by a shunt implantation we reexamined 155 (78%) postoperatively a mean time interval of 7 months. The NPH was graded according to the results of the intrathecal infusion test in an early stage NPH (without brain atrophy) and late stage NPH (with brain atrophy). In our study, we focussed attention on the possible predictors: patients age, length of disease, clinical signs (gait ataxia, dementia and bladder incontinence), aetiology idiopathic/secondary as well as implanted valve type and the value of resistance to cerebrospinal fluid outflow. To measure the outcome we used the NPH recovery rate and as the statistical test the chi(2) according to Pearson. In 80 patients with an early stage NPH (without cerebral atrophy), a short course of disease (<1 year), a slight degree of dementia and an implanted Miethke-Dual-Switch valve were significant predictors for a positive postoperative outcome. The outflow resistance measured in the intrathecal infusion test showed only a minimal relevance to outcome. Those 75 patients with a late state NPH (with cerebral atrophy) had a better outcome when dementia was not present, the outflow resistance was above 20mm Hg/min/ml, the CSF tap-test was positive and a Miethke-Dual-Switch valve was implanted.

Neurodevelopmental outcome of infants supported with extracorporeal membrane oxygenation after cardiac surgery.

OBJECTIVES: To evaluate the long-term neurodevelopmental outcome of infants who underwent cardiac surgery and required extracorporeal membrane oxygenation (ECMO) support, and to examine variables that predict death or disability in these patients. METHODS: We studied all infants who had congenital heart disease and were supported postoperatively with ECMO from 1990 to 2001 at our institution (n = 53). Medical records were reviewed retrospectively to obtain clinical variables. Neurologic and age-appropriate developmental examinations occurred at ages 1, 1.5, 2.5, and 4.5 years. Median age at follow-up was 55 months (9-101). Cognitive outcome was defined as suspect when scores were between 1 and 2 SD below the mean for age and abnormal when scores were >2 SD below mean for age. Neuromotor outcome was defined as suspect when the patient manifested clumsiness, tremor, or mild tone and reflex changes without functional limitations, and abnormal when there were functional limitations. RESULTS: In-hospital survival was 17 (32%) of 53. Of survivors, 14 (88%) of 16 are living and 1 patient was lost to follow-up. Of the 53 patients, 7 survived completely intact (13%). Seven (50%) of 14 patients had a normal cognitive outcome, 3 (21%) had a suspect cognitive outcome, and 4 (29%) were abnormal. Ten (72%) of 14 patients had a normal neuromotor outcome, 1 (7%) patient had a suspect neuromotor outcome, and 3 (21%) were abnormal. No survivor with an aortic cross-clamp time >40 minutes had a normal cognitive outcome. Nonsurvivors were more likely than survivors to have had cardiac arrest as an indication for ECMO (31% vs 6%), to have had a longer aortic cross-clamp time (mean 73 minutes vs 32 minutes), and to have required continuous arteriovenous hemofiltration (78% vs 35%). The age and weight at cannulation, gender, cardiac diagnosis, interval from surgery to ECMO, cardiopulmonary bypass time, diagnosis of sepsis or mediastinitis, and duration of ECMO were not significantly associated with survival. CONCLUSIONS: Although mortality was 68% in infants who had congenital heart disease and were treated with ECMO postoperatively, of those who survive to hospital discharge, 75% have a normal neuromotor outcome and 50% have a normal cognitive outcome. These high rates of mortality and disability suggest that increased attention be paid to neuroprotection in these complex disorders.

Isolation of Ross River virus from mosquitoes and from horses with signs of musculo-skeletal disease.

OBJECTIVE: To report clinical and clinicopathological findings in horses naturally infected with Ross River virus (RRV) and identify likely mosquito arbovirus vector species. PROCEDURES: Veterinarians submitted serum samples from 750 horses because they suspected Ross River virus (RRV) infection. The samples were tested for the presence of IgM and IgG antibody to RRV and for the presence of virus. Mosquitoes were trapped, differentiated to species level and tested for the presence of RRV by virus isolation. RESULTS: RRV was isolated from six species of mosquitoes (Ochlerotatus camptorhyncus, Culex globocoxitus, Cx. australicus, Cx. annulirostris, Cx. quinquefasciatus, Anopheles annulipes) and from 13 horses with clinical signs of musculo-skeletal disease. Antibody to RRV was detected in 420 of the 750 serum samples; 307 contained IgG only; 76 contained both IgM and IgG and 37 contained only IgM antibody to RRV. Virus was isolated from horses with IgM antibody only. CONCLUSIONS: RRV can be isolated from infected horses during the short time period when there is an overlap of clinical signs, positive IgM serology and viraemia. Early spring infections of horses may occur if RRV infected mosquito vectors are present. RRV has not been shown to cause clinical disease in horses. This is the first report of isolation of RRV from Oc. camptorhyncus in the Murray region and indicates a potential for infection of humans and animals in autumn as well as in spring.