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5 results on '"Lao-Villadóniga, J I"'

1. Ataxia espinocerebelosa tipo 17. Descripción del primer caso en población española.

Author

Pampliega-Pérez, A., Martín-Estefanía, C., and Lao-Villadóniga, J. I.

Subjects
FRIEDREICH'S ataxia, MOVEMENT disorders, LETTERS, PATIENTS
Abstract

Se presenta una carta al director sobre un caso de ataxia espinocerebelosa tipo 17 en la población española. Se enfoca en el caso de una mujer de 63 años que padecía de caídas recurrentes desde al menos 2 años. Se observó una alteración emocional y conductual consistente. La carta concluye con una descripción de los síntomas y la patología psiquiátrica la ataxia espinocerebelosa tipo 17.

Published
2009

4. [Type 17 spinal cerebellar ataxia. Description of the first case in the Spanish population].

Author

Pampliega-Pérez A, Martín-Estefanía C, and Lao-Villadóniga JI

Subjects
Diagnosis, Differential, Female, Humans, Middle Aged, Phenotype, Polymorphism, Genetic, Spain epidemiology, Spinocerebellar Ataxias epidemiology, Spinocerebellar Ataxias genetics, Trinucleotide Repeats, Spinocerebellar Ataxias pathology, Spinocerebellar Ataxias physiopathology
Published
2009

5. [Diagnosis and genetic counseling in mental retardation].

Author

Lao Villadóniga JI

Subjects
Abnormalities, Multiple genetics, Abnormalities, Multiple pathology, Abnormalities, Multiple psychology, Chromosome Aberrations, Female, Humans, Intellectual Disability pathology, Intellectual Disability psychology, Medical History Taking, Pregnancy, Risk Factors, Genetic Counseling methods, Genetic Counseling psychology, Intellectual Disability diagnosis, Intellectual Disability genetics
Abstract

An accurate diagnosis of a mentally retarded patient is a crucial step to design a successful treatment. The effects of genetic and environmental influences have to be clarified in the etiological approach. For that reason, we have to record a more appropriate family information, detailed prenatal, birth and postnatal patient history, and perform a thorough clinical examination to check for associated major and minor malformations. One of the major question to be resolved when faced with a mentally retarded patient is whether the disease is genetically or environmentally determined. The main purpose of this paper is to describe a general methodology we apply in genetic counselling of mental retardation including diagnosis, risks evaluation and psychological steps that we have to consider when we inform family members at risk.

Published
2001

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