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Camillo Golgi and the pathology of Huntington's disease: An unresolved controversy
Sergio Rebora1, Mauro Colombo2, Marjolein Breur3
1Azienda di Servizi alla Persona Golgi Redaelli, Milano, Italia.
Insights
Camillo Golgi
Area of Science:
- Neuropathology
- Neuroscience
- Medical History
Background:
- In 1874, Camillo Golgi documented neuropathological findings in a patient with chronic chorea and dementia.
- The study identified impairments in the frontal-parietal and temporal cortices, striatum, and cerebellum.
- This work predates commonly accepted first descriptions of cortico-striatal involvement in choreic movement disorders.
Purpose of the Study:
- To evaluate the neuropathological findings of Camillo Golgi's 1874 case study in the context of Huntington's disease.
- To address the ongoing debate regarding the diagnosis of Golgi's patient as potentially having Huntington's disease.
- To investigate the patient's family history through genealogical studies to support or refute the Huntington's disease diagnosis.
Main Methods:
- Review of Golgi's 1874 neuropathological study.
- Clinical-anatomical correlation analysis.
- Genealogical research to trace family history and identify potential choreic patients or Huntington's disease associations.
Main Results:
- Golgi's study detailed neuropathological changes in brain regions consistent with chorea.
- Genealogical studies did not reveal a family history of chorea or association with known Huntington's disease families in the region.
- The absence of definitive family history complicates the diagnostic debate but does not negate the neuropathological findings.
Conclusions:
- Camillo Golgi's 1874 study represents a significant early neuropathological description of chronic chorea.
- While the diagnosis of Huntington's disease remains debated due to lack of family history and genetic/histological data, Golgi's work is a landmark in understanding chorea's neuropathology.
- The study underscores the importance of historical neuropathological records in advancing the understanding of neurodegenerative diseases.
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.
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