Historical overview of hereditary ataxias with an annotation on the legacy of Hans Joachim Scherer
J. BercianoNeurosciences and History 2018; 6(3): 85-100
Type of article: REVIEW
AUTHOR
J. Berciano
Professor Emeritus of Neurology, University of Cantabria, Neurology Department, Hospital Universitario Marqués de Valdecilla (IDIVAL) and the Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), Santander, Spain.
This work was presented at the joint meeting of the Humanities and History of Neurology Study Group and the Commission for the Study of Ataxias and Degenerative Spastic Paraplegias at the 70th Annual Meeting of the Spanish Society of Neurology, held in Seville in November 2018.
ABSTRACT
Introduction. This paper presents a historical overview of the evolution of knowledge of degenerative cerebellar disorders and hereditary spastic paraplegias over the last one-and-a-half centuries.
Development. Original descriptions of the main pathological subtypes, including Friedreich ataxia, hereditary spastic paraplegia, olivopontocerebellar atrophy and cortical cerebellar atrophy, are reviewed. Special attention is given to the first accurate description of striato-nigral degeneration by Hans Joachim Scherer, and his personal and scientific trajectory are clarified. Pathological classifications of ataxia are critically analyzed. The current clinico-genetic classification of ataxia is updated by taking into account recent molecular discoveries.
Conclusions. There has been enormous progress in the understanding of the nosology of hereditary ataxias and paraplegias, currently encompassing about 180 genetic subtypes.
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, striato-nigral degeneration
Neurosciences and History 2018; 6(3): 85-100
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