Age dependent risks in genetic counselingfor spinocerebellar ataxia type 2

Spinocerebellar ataxia type 2 (SCA2, OMI health, reproductive, financial matters, and183090) belongs to a group of hereditary family planning. Therefore, we undertook a sur-neurodegenerative diseases caused by the expan- vey of the age of onset in a cohort of SCA2sion of a CAG repeat tract in coding regions of patinovel genes. This group includes Huntingtonsdisease (HD), spinal and bulbar muscularatrophy (SBMA), dentatorubral-pallidoluysianatrophy, and the spinocerebellar ataxias type 1,3, 6, 7, and 17 (1). These mutations show a veryhigh penetrance, and they follow an autosomaldominant inheritance pattern with the onlyexception of SBMA (X-linked); each descendantof an affected patient has an a priori risk of 50%.However, it has been proven that the empiric riskof having inherited the mutation causing HD orSCA3 (Machado–Joseph disease) lessens withadvancing age (2, 3). This fact has significantimplications in the genetic counseling of at-riskindividuals. The accuracy and precision that areachieved in the estimate of the risk of developinga certain hereditary illness will have a very...(AU)

Saccade Velocity as a Surrogate DiseaseMarker in Spinocerebellar Ataxia Type 2

Spinocerebellar ataxia type 2 (SCA2) is an autosomal-dominant disorder mani-festing with gait, limb, and speech incoordination, and with distinctive symptomssuch as early slowing of horizontal eye movements and early neuropathy.1–3 Neuro-pathological analysis has demonstrated severe olivopontocerebellar atrophy (OPCA)early in the course of disease, progressing to involve the anterior horn, substantia ni-gra, thalamus, and somatosensory pathways.4,5 Clinical onset is usually in midlife,but has been observed to range from 1 to 65 years of age, depending on the size ofthe underlying mutation, a CAG (cytosine-adenine-guanine)-trinucleotide repeat ex-pansion in exon 1 of the SCA2 gene...(AU)

Saccade velocity as a surrogate disease marker in spinocerebellar ataxia type 2.

We measured in 82 spinocerebellar ataxia type 2 (SCA2) patients and in 80 controls maximal saccade velocity (MSV) and correlated it to polyglutamine expansion size and disease duration. MSV is strongly decreased in SCA2 patients and is influenced mostly by polyglutamine size.

[Effects of a physical training program on quantitative neurological indices in mild stage type 2 spinocerebelar ataxia patients]. / Efectos de un programa de ejercicios físicos sobre variables neurológicas cuantitativas en pacientes con ataxia espinocerebelosa tipo 2 en estadio leve.

INTRODUCTION: Type 2 spinocerebelar ataxia (SCA2) is a neurodegenerative disease with higher prevalence and incidence in Holguín province, Cuba. At present, there is not any drug to counteract the loss of coordinative motor capacities of these patients. Thus physical training seems to be the only way to attenuate the course of disease. AIMS: To evaluate the effectiveness of a physical training program on quantitative neurological indices in SCA2 patients. PATIENTS AND METHODS: A samples of 87 SCA2 patients were studied. All subjects underwent a six month physical exercise program based on coordination, balance and muscular conditioning exercises. Quantitative tests were applied to all patients both before and after the application of the exercise program. Comparisons between pretest versus posttest values were made to evaluate the improvement in neurological indices. RESULTS: All neurological indices both with open eyes and closed eyes significantly improved from pretest to posttest. Static balance, evaluated by Romberg test, also enhanced with training. CONCLUSIONS: The exercise training program significantly improved the neurological indices in SCA2 patient with mild stage of disease.

Efectos de un programa de ejercicios físicos sobre variables neurológicas cuantitativas en pacientes con ataxia espinocerebelosa tipo 2 en estadio leve / Effects of a physical training program on quantitative neurological indices in mild stage type 2 spinocerebelar ataxia patients

Introducción. La ataxia espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa con una alta prevalencia e incidencia en la provincia de Holguín, Cuba. Hasta ahora no se cuenta con ningún medicamento capaz de contrarrestar la pérdida de las capacidades motoras coordinativas de estos pacientes. Por ello, la rehabilitación a través de ejercicios físicos constituye la única alternativa para atenuar el curso invalidante de esta enfermedad. Objetivo. Evaluar la efectividad de un programa de ejercicios físicos sobre indicadores neurológicos cuantitativos en pacientes con SCA2. Pacientes y métodos. Se estudiaron 87 pacientes con SCA2, a los cuales se les aplicó durante seis meses un programa de entrenamiento basado en ejercicios de coordinación, equilibrio y acondicionamiento muscular. Se realizaron exámenes cuantitativos (prueba índice-punto, test de Romberg sensibilizado) antes y después del entrenamiento para evaluar la efectividad del programa de ejercicios aplicado a los enfermos. Se compararon ambas mediciones a través de la prueba t de Student para datos pareados. Resultados. Todos los indicadores neurológicos con ojos abiertos y ojos cerrados mejoraron significativamente en la segunda medición. El equilibrio estático evaluado a través del test de Romberg sensibilizado mejoró significativamente. Conclusiones. El programa de entrenamiento aplicado mejoró sustancialmente los indicadores neurológicos cuantitativos estudiados en los pacientes con SCA2 en estadio leve de la enfermedad(AU)

Introduction. Type 2 spinocerebelar ataxia (SCA2) is a neurodegenerative disease with higher prevalence and incidence in Holguín province, Cuba. At present, there is not any drug to counteract the loss of coordinative motor capacitiesof these patients. Thus physical training seems to be the only way to attenuate the course of disease. Aims. To evaluate the effectiveness of a physical training program on quantitative neurological indices in SCA2 patients. Patients and methods. A samples of 87 SCA2 patients were studied. All subjects underwent a six month physical exercise program based on coordination, balance and muscular conditioning exercises. Quantitative tests were applied to all patients both before and after the application of the exercise program. Comparisons between pretest versus postest values were made to evaluate the improvement in neurological indices. Results. All neurological indices both with open eyes and closed eyes significantly improved from pretest to postest. Static balance, evaluated by Romberg test, also enhanced with training. Conclusions. Theexercise training program significantly improved the neurological indices in SCA2 patient with mild stage of disease(AU)

Efectos de un programa de ejercicios físicos sobre variables neurológicas cuantitativas en pacientes con ataxia espinocerebelosa tipo 2 en estadio leve / Effects of a physical training program on cuantitative neurological indices in mild stage type 2 spinocerebelar ataxia patients

Introducción. La ataxia espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa con una alta prevalencia e incidencia en la provincia de Holguín, Cuba. Hasta ahora no se cuenta con ningún medicamento capaz de contrarrestar la pérdida de las capacidades motoras coordinativas de estos pacientes. Por ello, la rehabilitación a través de ejercicios físicos constituye la única alternativa para atenuar el curso invalidante de esta enfermedad. Objetivo. Evaluar la efectividad de un programa de ejercicios físicos sobre indicadores neurológicos cuantitativos en pacientes con SCA2. Pacientes y métodos. Se estudiaron 87 pacientes con SCA2, a los cuales se les aplicó durante seis meses un programa de entrenamiento basado en ejercicios de coordinación, equilibrio y acondicionamiento muscular. Se realizaron exámenes cuantitativos (prueba índice-punto, test de Romberg sensibilizado) antes y después del entrenamiento para evaluar la efectividad del programa de ejercicios aplicado a los enfermos. Se compararon ambas mediciones a través de la prueba t de Student para datos pareados. Resultados. Todos los indicadores neurológicos con ojos abiertos y ojos cerrados mejoraron significativamente en la segunda medición. El equilibrio estático evaluado a través del test de Romberg sensibilizado mejoró significativamente. Conclusiones. El programa de entrenamiento aplicado mejoró sustancialmente los indicadores neurológicos cuantitativos estudiados en los pacientes con SCA2 en estadio leve de la enfermedad (AU)

Efectos de un programa de ejercicios físicos sobre variablesneurológicas cuantitativas en pacientes con ataxiaespinocerebelosa tipo 2 en estadio leve / Effects of a physical training program on cuantitative neurologicAL indices

Type 2 spinocerebelar ataxia (SCA2) is a neurodegenerative disease with higher prevalence andincidence in Holguín province, Cuba. At present, there is not any drug to counteract the loss of coordinative motor capacitiesof these patients. Thus physical training seems to be the only way to attenuate the course of disease. Aims. To evaluate theeffectiveness of a physical training program on quantitative neurological indices in SCA2 patients. Patients and methods. Asamples of 87 SCA2 patients were studied. All subjects underwent a six month physical exercise program based oncoordination, balance and muscular conditioning exercises. Quantitative tests were applied to all patients both before andafter the application of the exercise program. Comparisons between pretest versus postest values were made to evaluate theimprovement in neurological indices. Results. All neurological indices both with open eyes and closed eyes significantlyimproved from pretest to postest. Static balance, evaluated by Romberg test, also enhanced with training. Conclusions. Theexercise training program significantly improved the neurological indices in SCA2 patient with mild stage of disease...(AU)

[Dysautonomic features in patients with Cuban type 2 spinocerebellar ataxia]. / Manifestaciones disautonómicas en pacientes de ataxia espinocerebelosa tipo 2 cubana.

INTRODUCTION: Dysautonomic features are the clinical signs and symptoms derived from anomalous functioning of the sympathetic or parasympathetic nervous systems in either the peripheral or central parts. OBJECTIVE: To identify the clinical features related to dysautonomia in a patient with spinocerebellar ataxia with severe functional disability. PATIENTS AND METHODS: We studied a series of cases, including 21 patients with severe disability (confirmed to their bed or wheelchair, unable to walk and totally or partly dependent on other people for essential everyday activities). The patients and their families were closely questioned, and full clinical examination included a test for orthostasia. RESULTS: All patients had some signs of peripheral dysautonomia: all had vasomotor disorders (orthostasia, distal pallor and coldness, Raynaud s phenomenon, etc.), 95.2% (constipation, urinary and rectal incontinence, polachuria, palpitations, tachycardia at rest, etc.), exocrine gland disorders in 71.4% (increased lachrymation, reduced sweating, increased or reduced salivation), 87.5% peripheral tissue nutrition disorders. Similarly, in all patients studied there was evidence of central dysautonomic disorder, with a syndrome of cachexia with bulimia, sleep disorders together with dysregulation of thirst and body temperature. CONCLUSIONS: In patients with type 2 hereditary spinocerebellar ataxia with severe disability there was involvement of the peripheral and central nervous system regulating autonomic function.

[Automatic analysis of the alternate movements of the arms in patients with type 2 spino cellular ataxia]. / Análisis automático de los movimientos alternativos de miembros superiores en pacientes con ataxia espinocerebelosa tipo 2.

INTRODUCTION: A patient with type 2 spino cerebellar ataxia has difficulty in carrying out alternate movements such as pronation and supination. OBJECTIVES. To evaluate the function of an automatized system for measuring disorders of alternate movements. PATIENTS AND METHODS: We studied the measurement of diadochokinesia in two groups of healthy patients, a first group (64 persons) to determine the normal intervals and a second group to validate the test (52 persons). We also studied 100 patients for validation of the system. A further 53 patients were evaluated before and after rehabilitation. RESULTS: Analysis of the basic measurements for diagnosis of duodochokinesia showed that the higher the cut off point, the greater the sensitivity of the test, whereas the opposite occurred with the specificity. Thus, regarding a higher cut off, there is a five times greater probability of a positive results in the patients than in healthy persons. However, the probability of a normal result is six times higher in healthy than in affected persons. The results of variant analysis done on patients before and after rehabilitation suggest that the presence of quantitative changes in the second study was due to the positive effect of neuro rehabilitation. CONCLUSION: The technique used is effective for differentiation of affected from healthy persons and its use is justified in the evaluation of co ordination ability after rehabilitation

Manifestaciones disautonómicas en pacientes con ataxia espinocerebelosa tipo 2 cubana / Dysautonomic features in patients with cuban type 2 spinocerebellar ataxia

Introducción. Las manifestaciones disautonómicas son todos aquellos síntomas o signos clínicos que se derivan de un funcionamiento anómalo del sistema nervioso simpático o parasimpático, tanto en sus porciones periféricas como centrales. Objetivo. Identificar las manifestaciones clínicas relacionadas con disautonomías en el paciente de ataxia espinocerebelosa tipo 2 con discapacidad funcional severa. Pacientes y métodos. Se realizó un estudio de serie de casos en 21 enfermos con discapacidad severa (confinados a la cama o silla de ruedas, que no pueden deambular y dependen total o parcialmente de otra persona para realizar las actividades vitales). Se efectuó un minucioso interrogatorio clínico a enfermos y familiares, así como un examen físico exhaustivo que incluyó la prueba de ortostatismo. Resultados. El 100 por ciento de la muestra presentaron alguna manifestación disautonómica periférica: trastornos vasomotores en el 100 por ciento (ortostatismo, frialdad y palidez distal, fenómeno de Raynaud, etc.), trastornos viscerales en el 95,2 por ciento (constipación, incontinencia vesical y rectal, polaquiuria, palpitaciones, taquicardia en reposo, etc.), glandular exocrino en el 71,4 por ciento (aumento lagrimal, sudoración disminuida, aumento o disminución salival), nutritivo tisular periférico en el 87,5 por ciento. Por otro lado, en el 100 por ciento de los enfermos estudiados se detectaron manifestaciones disautonómicas centrales dadas por un síndrome con predominio de caquexia asociada a bulimia, trastornos del sueño, disregulación de la sed y temperatura corporal. Conclusión. En los enfermos de ataxia espinocerebelosa hereditaria tipo 2 con discapacidad grave se detectó afectación del sistema nervioso central y periférico regulador de la función autónoma (AU)

Análisis automático de los movimientos alternativos de miembros superiores en pacientes con ataxia espinocerebelosa tipo 2 / Automatic analysis of the alternate movements of the arms in patients with type 2 spinocerebellar ataxia

Introducción. El paciente con ataxia espinocerebelosa tipo 2 presenta dificultades en la ejecución de los movimientos alternativos tales como la pronación y la supinación. Objetivos. Evaluar el desempeño del sistema automatizado para la cuantificación de los trastornos de los movimientos alternativos. Pacientes y métodos. Estudiamos la cuantificación de la diadococinesia en dos grupos de sujetos sanos, un primer grupo (64 sujetos) para la determinación de los intervalos de normalidad y el segundo para la validación de la prueba (52 sujetos). Además, fueron incluidos 100 enfermos para realizar la validación del sistema. Otros 53 pacientes se evaluaron antes y después de la rehabilitación. Resultados. El análisis de las medidas básicas para la discriminación diagnóstica de la diadococinesia demostró que la sensibilidad del test era mayor mientras mayor era el punto de corte, y que al analizar la especificidad ocurría un efecto contrario. Así, respecto al punto de corte mayor, la probabilidad de un resultado positivo es aproximadamente cinco veces superior en los enfermos que en los no enfermos, pero la probabilidad de un resultado negativo es seis veces mayor en los no enfermos que en los enfermos.Los resultados del análisis de varianza realizado a pacientes antes y después de la rehabilitación sugirió la existencia de cambios cuantitativos en el segundo estudio como traducción del efecto positivo de la neurorrehabilitación. Conclusión. La técnica empleada es eficaz en la diferenciación de los sujetos enfermos de los sanos y justifica el empleo de las mismas en la evaluación de las capacidades coordinativas tras la rehabilitación (AU)

Análisis automático de los movimientos alternativos de miembrossuperiores en pacientes con ataxia espinocerebelosa tipo 2 / AUTOMATIC ANALYSIS OF THE ALTERNATE MOVEMENTS OF THE ARMS

A patient with type 2 spinocerebellar ataxia has difficulty in carrying out alternate movements such aspronation and supination. Objectives. To evaluate the function of an automatized system for measuring disorders of alternatemovements. Patients and methods. We studied the measurement of diadochokinesia in two groups of healthy patients, a first group (64persons) to determine the normal intervals and a second group to validate the test (52 persons). We also studied 100 patients forvalidation of the system. A further 53 patients were evaluated before and after rehabilitation. Results. Analysis of the basic measurementsfor diagnosis of diadochokinesia showed that the higher the cutoff point, the greater the sensitivity of the test, whereas the oppositeoccurred with the specificity. Thus, regarding a higher cutoff, there is a five times greater probability of a positive results in the patientsthan in healthy persons. However, the probability of a normal result is six times higher in healthy than in affected persons. The resultsof variant analysis done on patients before and after rehabilitation suggest that the presence of quantitative changes in the second studywas due to the positive effect of neurorehabilitation...(AU)