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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)

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INTRODUCTION: Of the different hereditary ataxias present in Cuba, spinocerebellar ataxia type 2 (SCA2) is the most prevalent molecular type. Over the last years a great amount of progress has been made in clinical, epidemiological, molecular and neurophysiological research. Yet, the main psychiatric disorders that appear in these patients remain unknown. Their proper diagnosis will help to draw up a program of individualized therapeutic interventions for each disorder and will allow the patient to cope better with his or her illness and to take part in an effective physical and psychological rehabilitation program. AIMS. To identify the mental disorders that appear in patients suffering from SCA2. PATIENTS AND METHODS: We conducted a descriptive study of series of cases in 150 patients with SCA2. Data was obtained by means of a semi structured interview with patients and their relatives, as well as a thorough psychiatric exploration, which enabled us to sort the symptoms according to spheres. A battery of psychometric tests and the diagnostic and research criteria for the international classification of mental illnesses were also used. RESULTS: Findings showed that 88% of those studied present at least one clinical manifestation related with mental disorders. These included, essentially, disorders involving adaptation, sleep, mood and sexual disorders. Mental retardation and dementia were other alterations that were diagnosed. CONCLUSIONS: Disorders in the psychic sphere are a part of the SCA2 phenotype

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Of the different hereditary ataxias present in Cuba, spinocerebellar ataxia type 2 (SCA2) is the mostprevalent molecular type. Over the last years a great amount of progress has been made in clinical, epidemiological, molecularand neurophysiological research. Yet, the main psychiatric disorders that appear in these patients remain unknown. Their properdiagnosis will help to draw up a program of individualized therapeutic interventions for each disorder and will allow the patientto cope better with his or her illness and to take part in an effective physical and psychological rehabilitation program. Aims.To identify the mental disorders that appear in patients suffering from SCA2. We conducted a descriptive study of series of cases in 150 patients with SCA2. Data was obtained by means of a semi-structured interview with patients andtheir relatives, as well as a thorough psychiatric exploration, which enabled us to sort the symptoms according to spheres. Abattery of psychometric tests and the diagnostic and research criteria for the international classification of mental illnesses werealso used. Findings showed that 88 percent of those studied present at least one clinical manifestation related with mentaldisorders. These included, essentially, disorders involving(AU)

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The spinocerebellar ataxia type 2 has a prevalence of 43 per 100,000 inhabitants in Holguín province,which is the highest one reported worldwide. It is due to an intergenerational CAG repeat expansion contained in the first exonof diseasecausinggene, and it is characterized by a high variability in its clinical and electrophysiological presentation, evenintrafamiliarly. Objective. Factors identification, which explains this variability, could lead to the findings of therapeuticalways that may retard the disease onset. Patients and methods. We have done this research in order to contribute to thisphenotypic variability knowledge of the different structures and functions of the nervous system. Results. By means of molecularand electrophysiological studies we have found two groups well differentiated in a 52patientsample. The first one wascharacterized by CAG repeat expansions above 41 units and by the total blockade of the afferent conduction that is, basicelectrophysiological alteration with axonal damage predominance. The second one was characterized by CAG repeat expansionslower or equal to 41 units and showed a high variability in its electrophysiological behavior with myelinic damage predominance.We realized of the existence of statistical significance correlations between the electrophysiological, clinical and molecularvariables considered. Conclusions. These findings suggest that for by CAG repeat expansions lower or equal to 41 unitsshould be affecting other genetics and/or environmental factors that explain the variability found in this group which arenot significant for clinical and electrophysiological presentation in individuals with CAG repeat expansions...(AU)

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Introducción: la ataxia espinocerebelosa tipo 2 tiene la mayor prevalencia del mundo en la provincia de Holguín (Cuba). Es causada por la expansión de una secuencia de CAG contenida en el gen SCA2, y se caracteriza por una gran variabilidad en su expresión clínica y electrofisiológica, aun intrafamiliarmente. La identificación de factores que expliquen esta variabilidad podría conducir al descubrimiento de vías terapéuticas que retarden el comienzo de la enfermedad. Objetivo: con el propósito de contribuir al conocimiento de dicha variabilidad fenotípica hemos desarrollado esta investigación. Pacientes y métodos: primero determinamos el número exacto de repeticiones de CAG en una muestra de 52 pacientes SCA2, y luego practicamos estudios electrofisiológicos (estudios de conducción nerviosa periférica y sensitiva, PESS de nervio mediano y tibial posterior así como reflejo H). Resultados: Se identificaron dos grupos bien diferenciados entre sí. El primero incluyó a los pacientes con expansiones mayores de 41 unidades de CAG, y se caracterizó por el bloqueo total de la conducción aferente y el predominio de una lesión tipo axonal. El segundo grupo incluyó a enfermos con expansiones iguales o menores a 41 unidades de CAG, y mostró una gran variabilidad en su comportamiento electrofisiológico además de una lesión predominantemente mielínica. También demostramos la existencia de correlaciones estadísticamente significativas entre las variables electrofisiológicas y las clínicas y moleculares consideradas. Conclusiones: estos hallazgos sugieren que para expansiones menores o iguales a 41 unidades de CAG deben estar influyendo otros factores genéticos o ambientales que provoquen la variabilidad observada y que no son significativos para las manifestaciones clínicas y electrofisiológicas en individuos con expansiones mayores de 41 unidades de CAG(AU)

Introduction: the spinocerebellar ataxia type 2 has a prevalence of 43 per 100,000 inhabitants in Holguín province, which is the highest one reported worldwide. It is due to an intergenerational CAG repeat expansion contained in the first exon of disease causing gene, and it is characterized by a high variability in its clinical and electrophysiological presentation, even intrafamiliarly. Objetive: factors identification, which explains this variability, could lead to the findings of therapeutical ways that may retard the disease onset. Patients and Methods: we have done this research in order to contribute to this phenotypic variability knowledge of the different structures and functions of the nervous system. Results: by means of molecular and electrophysiological studies we have found two groups well differentiated in a 52-patient sample. The first one was characterized by CAG repeat expansions above 41 units and by the total blockade of the afferent conduction that is, basic electrophysiological alteration with axonal damage predominance. The second one was characterized by CAG repeat expansions lower or equal to 41 units and showed a high variability in it s electrophysiological behavior with myelinic damage predominance. We realized of the existence of statistical significance correlations between the electrophysiological, clinical and molecular variables considered. Conclusions: these findings suggest that for by CAG repeat expansions lower or equal to 41 units should be affecting other genetics and/or environmental factors that explain the variability found in this group which are not significant for clinical and electrophysiological presentation in individuals with CAG repeat expansions above 41 units(AU)

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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

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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)

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