History of Ataxias and Paraplegias with an Annotation on the First Description of Striatonigral Degeneration.
Cerebellum
; 21(4): 531-544, 2022 Aug.
Article
en En
| MEDLINE
| ID: mdl-34731448
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.
Palabras clave
Ataxia; Autosomal dominant cerebellar ataxia; Autosomal recessive cerebellar ataxia; Cortical cerebellar atrophy; Episodic ataxia; Friedreich's ataxia; Hans Joachim Scherer; Hereditary spastic paraplegia; Idiopathic late-onset ataxia; Multiple system atrophy; Nazism; Non-progressive congenital ataxia; Olivopontocerebellar atrophy; Parkinsonism; SCA genes; SPG genes; Sporadic adult-onset ataxia; Striatonigral degeneration
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Paraplejía Espástica Hereditaria
/
Ataxia Cerebelosa
/
Enfermedades Neurodegenerativas
/
Degeneración Estriatonigral
Límite:
Humans
Idioma:
En
Revista:
Cerebellum
Asunto de la revista:
CEREBRO
Año:
2022
Tipo del documento:
Article
País de afiliación:
España