Aspectos neuropsicológicos de las ataxias espinocerebelosas autosómico dominantes
Fuente:
Redalyc
Guardado en:
| Autor principal: | |
|---|---|
| Formato: | Artículo científico |
| Lenguaje: | en |
| Publicado: |
Instituto Nacional de Psiquiatría Ramón de la Fuente Muñiz
2002
|
| Materias: | |
| Acceso en línea: | |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| _version_ | 1876442216713420800 |
|---|---|
| author | Marcela Fragoso Benítez |
| author_facet | Marcela Fragoso Benítez |
| contents | Aspectos neuropsicológicos de las ataxias espinocerebelosas autosómico dominantes Marcela Fragoso Benítez Astrid Rasmussen Medicina pathogenesis molecular diagnosis genetic counseling nucleotide expansion Autosomal Dominant Spinocerebellar Ataxia (ADCA) Autosomal dominant spinocerebellar ataxias (ADCA) have alwaysbeen difficult to classify because of their inter and intrafamilialheterogeneity. Initially, late onset ataxias were classified by Hardingin 1983, dividing them into autosomal dominant ataxias, otherprogressive dominant diseases, episodic ADCA and late onsetautosomal recessive ataxia. This classification takes intoconsideration major clinical aspects for the autosomal dominantataxias: ADCA type I includes ophtalmoplegia, optic atrophy andextrapyramidal signs additional to the cardinal feature of ataxia;ADCA type II includes patients with ataxia, plus pigmentary maculardegeneration, and extrapyramidal signs; ADCA type IIIcorresponds to a pure cerebellar syndrome, usually with onsetafter the fifth decade of life. Although this classification is stillapplied in the clinical setting, a more recent classification hasbeen developed since 1991, when the first of the sixteen differenttypes of ADCA described so far, was characterized at the molecularlevel. This genotype-based classification is the most widely acceptedat the present time, and each disorder is identified by theabbreviation of spinocerebellar ataxia (SCA) and an Arabic numeralcorresponding to the number of locus discovered for eachdisorder... 2002 artículo científico 0185-3325 https://www.redalyc.org/articulo.oa?id=58252505 en http://www.redalyc.org/revista.oa?id=582 Salud Mental application/pdf Instituto Nacional de Psiquiatría Ramón de la Fuente Muñiz Salud Mental (México) Num.5 Vol.25 |
| format | Artículo científico |
| id | redalyc_58252505 |
| institution | Redalyc |
| language | en |
| publishDate | 2002 |
| publisher | Instituto Nacional de Psiquiatría Ramón de la Fuente Muñiz |
| spellingShingle | Aspectos neuropsicológicos de las ataxias espinocerebelosas autosómico dominantes Marcela Fragoso Benítez Medicina pathogenesis molecular diagnosis genetic counseling nucleotide expansion Autosomal Dominant Spinocerebellar Ataxia (ADCA) Aspectos neuropsicológicos de las ataxias espinocerebelosas autosómico dominantes Marcela Fragoso Benítez Astrid Rasmussen Medicina pathogenesis molecular diagnosis genetic counseling nucleotide expansion Autosomal Dominant Spinocerebellar Ataxia (ADCA) Autosomal dominant spinocerebellar ataxias (ADCA) have alwaysbeen difficult to classify because of their inter and intrafamilialheterogeneity. Initially, late onset ataxias were classified by Hardingin 1983, dividing them into autosomal dominant ataxias, otherprogressive dominant diseases, episodic ADCA and late onsetautosomal recessive ataxia. This classification takes intoconsideration major clinical aspects for the autosomal dominantataxias: ADCA type I includes ophtalmoplegia, optic atrophy andextrapyramidal signs additional to the cardinal feature of ataxia;ADCA type II includes patients with ataxia, plus pigmentary maculardegeneration, and extrapyramidal signs; ADCA type IIIcorresponds to a pure cerebellar syndrome, usually with onsetafter the fifth decade of life. Although this classification is stillapplied in the clinical setting, a more recent classification hasbeen developed since 1991, when the first of the sixteen differenttypes of ADCA described so far, was characterized at the molecularlevel. This genotype-based classification is the most widely acceptedat the present time, and each disorder is identified by theabbreviation of spinocerebellar ataxia (SCA) and an Arabic numeralcorresponding to the number of locus discovered for eachdisorder... 2002 artículo científico 0185-3325 https://www.redalyc.org/articulo.oa?id=58252505 en http://www.redalyc.org/revista.oa?id=582 Salud Mental application/pdf Instituto Nacional de Psiquiatría Ramón de la Fuente Muñiz Salud Mental (México) Num.5 Vol.25 |
| title | Aspectos neuropsicológicos de las ataxias espinocerebelosas autosómico dominantes |
| topic | Medicina pathogenesis molecular diagnosis genetic counseling nucleotide expansion Autosomal Dominant Spinocerebellar Ataxia (ADCA) |
| url | https://www.redalyc.org/articulo.oa?id=58252505 |