Camillo Golgi and the pathology of Huntington’s disease: An unresolved controversy

In 1874, Camillo Golgi published the neuropathological study of a patient with chronic chorea and dementia, demonstrating impairments in the frontal-parietal and temporal cortices, striatum, and cerebellum. This study anticipated by fifty years those traditionally recognized as the first to link choreic movements with cortico-striatal involvement, but regardless of the author's intention, has also come to be considered the first on the neuropathology of Huntington's disease. This has given rise to a dispute between one position in favor of this diagnosis based on the clinical-anatomical correlation and the other opposed to the diagnosis, based on the lack of a family history of chorea. Given the absence of remains and slides to be used for DNA and histological analyses, we attempted to fill this gap by carrying out genealogical studies, but have so far been unable to identify any other choreic patients in the patient's family or any association with homonymous families with Huntington's disease currently living in the same region as Golgi's patient. This does not end the controversy and indeed raises the issue of diagnosis, but it does not deprive Golgi of the merit of having first identified the neuropathology of chronic chorea.

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Publication Details

Journal
Journal of the History of the Neurosciences
Published
2025-10-23
DOI
https://doi.org/10.1080/0964704x.2025.2554056
Primary Topic
Genetic Neurodegenerative Diseases
Type
article
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article

Camillo Golgi and the pathology of Huntington’s disease: An unresolved controversy

Sergio Rebora, Marianna Bugiani, Orso Bugiani, Maria Carla Garbarino et al.
Journal of the History of the Neurosciences
Genetic Neurodegenerative Diseases
article

Camillo Golgi and the pathology of Huntington’s disease: An unresolved controversy

Sergio Rebora, Marianna Bugiani, Orso Bugiani, Maria Carla Garbarino, M. Colombo, Marjolein Breur, Cinzia Gellera
article en

Abstract

In 1874, Camillo Golgi published the neuropathological study of a patient with chronic chorea and dementia, demonstrating impairments in the frontal-parietal and temporal cortices, striatum, and cerebellum. This study anticipated by fifty years those traditionally recognized as the first to link choreic movements with cortico-striatal involvement, but regardless of the author's intention, has also come to be considered the first on the neuropathology of Huntington's disease. This has given rise to a dispute between one position in favor of this diagnosis based on the clinical-anatomical correlation and the other opposed to the diagnosis, based on the lack of a family history of chorea. Given the absence of remains and slides to be used for DNA and histological analyses, we attempted to fill this gap by carrying out genealogical studies, but have so far been unable to identify any other choreic patients in the patient's family or any association with homonymous families with Huntington's disease currently living in the same region as Golgi's patient. This does not end the controversy and indeed raises the issue of diagnosis, but it does not deprive Golgi of the merit of having first identified the neuropathology of chronic chorea.

Journal of the History of the NeurosciencesVol. 35(1)
University of Pavia (IT), Amsterdam UMC Location University of Amsterdam (NL), Fondazione Golgi Cenci (IT), Amsterdam University Medical Centers (NL), Azienda di Servizi alla Persona di Pavia (Italy) (IT), Fondazione IRCCS Istituto Neurologico Carlo Besta (IT), University of Amsterdam (NL)
Openalex Percentile: Top 67%
Genetic Neurodegenerative Diseases
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