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Abstract: The aim of this paper is to carry out a historical overview of the evolution of the knowledge on degenerative cerebellar disorders and hereditary spastic paraplegias, over the last century and a half. Original descriptions of the main pathological subtypes, including Friedreich's ataxia, hereditary spastic paraplegia, olivopontocerebellar atrophy and cortical cerebellar atrophy, are revised. Special attention is given to the first accurate description of striatonigral degeneration by Hans Joachim Scherer, his personal and scientific trajectory being clarified. Pathological classifications of ataxia are critically analysed. The current clinical-genetic classification of ataxia is updated by taking into account recent molecular discoveries. We conclude that there has been an enormous progress in the knowledge of the nosology of hereditary ataxias and paraplegias, currently encompassing around 200 genetic subtypes.
Fuente: Cerebellum . 2022 Aug;21(4):531-544
Editorial: Springer
Año de publicación: 2022
Nº de páginas: 13
Tipo de publicación: Artículo de Revista
DOI: 10.1007/s12311-021-01328-6
ISSN: 1473-4230,1473-4222
Url de la publicación: https://www.doi.org/10.1007/s12311-021-01328-6
Leer publicación
JOSE ANGEL BERCIANO BLANCO
GAZULLA, JOSÉ
JON INFANTE CEBERIO
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