Marie hereditary cerebellar ataxia: recalling a classic eponym fallen into disuse

J. Berciano, J. Gazulla, J. Infante
Neurosciences and History 2023;11(4):185-195

Type of article: REVIEW

AUTHORS

J. Berciano¹, J. Gazulla², J. Infante^3
1Professor emeritus ad honorem, Universidad de Cantabria, Santander, Spain.
²Neurology department, Hospital Universitario Miguel Servet, Zaragoza, Spain.
³Neurology department, Hospital Universitario Marqués de Valdecilla (IDIVAL) and Biomedical Research Networking Center on Neurodegenerative Diseases (CIBERNED), Santander, Spain.

ABSTRACT

Introduction. The term hereditary ataxia was introduced by Nikolaus Friedreich to designate a clinical-pathological description of a new form of early-onset familial ataxia, described in papers published between 1863 and 1877. This designation was soon replaced by the eponym Friedreich ataxia, leaving vacant the term hereditary ataxia. In 1893, Pierre Marie proposed that the term hereditary ataxia be reintroduced, adding the epithet cerebellar; many authors, particularly French-speaking researchers, replaced this designation with the eponym Marie ataxia.

Objective. To clarify the nosology of Marie ataxia, addressing the question as to whether or not continued use of the term is warranted.

Development. The original descriptions of Friedreich ataxia and Marie ataxia are reviewed in depth. Friedreich gave a magnificent description of a disease, which quite rightly carries his name. Marie based his proposal not on his own clinical-pathological studies, but on four previous reports by other authors. Essential features differentiating it from Friedreich ataxia were older age of onset and preservation of tendon reflexes. By 1893, two autopsy studies had revealed predominant cerebellar changes; because of this, Pierre Marie introduced the term hereditary cerebellar ataxia. Over the following four decades, eight additional studies showed that main lesions affected the spinal cord, involving the columns of Clarke, the anterior spinocerebellar tracts, and to a lesser degree the posterior spinocerebellar tracts and posterior columns. With no appropriate justification, Marie and his pupils proposed that ventral spinocerebellar tract degeneration was a distinctive feature of cerebellar hereditary ataxia. The notion of Marie ataxia received well-founded criticisms.

Conclusion. There is no justification to continue using the eponym Marie ataxia.

KEYWORDS

Cerebello-olivary atrophy, Friedreich ataxia, hereditary ataxia, hereditary cerebellar ataxia, International Classification of Diseases (ICD), Marie ataxia, olivopontocerebellar atrophy, OMIM, spinocerebellar degeneration

Neurosciences and History 2023;11(4):185-195