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.
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Acknowledgements
We are grateful to Professor José Ramón Ricoy for the pathological study illustrated in Fig. 5. We are also grateful to Professor Raymond Escourolle (†) for allowing one of us (JB) to revise the pathological material of the Laboratoire de Neuropathologie Charles Foix (now Raymond Escourolle), Hôpital de la Salpêtrière (Paris), and to use pictures from the original description by Dejerine and Thomas (Fig. 3). We wish to thank our colleagues at the Service of Neurology in Valdecilla and especially to Professor José Miguel Polo who carried out his doctoral thesis on hereditary ataxias. Finally, it has been a great pleasure sharing information on Hans Joachim Scherer with his son, Marc Scherer.
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Berciano, J., Gazulla, J. & Infante, J. History of Ataxias and Paraplegias with an Annotation on the First Description of Striatonigral Degeneration. Cerebellum 21, 531–544 (2022). https://doi.org/10.1007/s12311-021-01328-6
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DOI: https://doi.org/10.1007/s12311-021-01328-6
Keywords
- 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