Neurodegenerative diseases have traditionally been defined as clinico-pathological entities. The clinician observes characteristic clusters of symptoms that relate to the anatomical distribution of the lesion. Typically, these symptoms progress in a characteristic sequence allowing the clinician to make a provisional diagnosis. At autopsy, the pathologist examines the nature and distribution of the lesions, reads the clinical report and makes a definitive diagnosis. This structure is so deeply embedded in our concepts of neurodegenerative disease that we are hardly aware of it. It has become deeply embedded because it has been a useful construct that allows grouping of patients for research, especially in treatment trials. However this success has served to hide its limitations and molecular genetic analysis has clearly shown that there are other ways of thinking about neurodegenerative disease. In this review, I will summarize the limitations of the clinicopathological approach, and discuss how molecular genetics offers an alternative way of thinking about neurodegeneration. My intention is not to suggest that we should replace the clinicopathological approach (Newtonian physics is a perfectly good way of thinking about the world on a day-to-day basis even though we know it is only an approximation to the truth) but rather, to suggest that future treatments for these most devastating diseases may come from a deeper understanding of their related pathogenesis.
Skip Nav Destination
Article navigation
February 2001
Issue Editors
-
Cover Image
Cover Image
- PDF Icon PDF LinkFront Matter
Conference Article|
February 01 2001
Genetic dissection of primary neurodegenerative diseases
John Hardy
John Hardy
1Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, U.S.A.
Search for other works by this author on:
Publisher: Portland Press Ltd
Online ISSN: 1744-1439
Print ISSN: 0067-8694
© 2001 The Biochemical Society
2001
Biochem Soc Symp (2001) 67: 51–57.
Citation
Cora O'Neill, Brian Anderton, John Hardy; Genetic dissection of primary neurodegenerative diseases. Biochem Soc Symp 1 February 2001; 67 51–57. doi: https://doi.org/10.1042/bss0670051
Download citation file:
Sign in
Don't already have an account? Register
Sign in to your personal account
You could not be signed in. Please check your email address / username and password and try again.
Could not validate captcha. Please try again.
Biochemical Society Member Sign in
Sign InSign in via your Institution
Sign in via your InstitutionGet Access To This Article
Cited By
Related Articles
Mitochondrial dysfunction and neurodegenerative proteinopathies: mechanisms and prospects for therapeutic intervention
Biochem Soc Trans (July,2018)
Mechanistic roles for altered O -GlcNAcylation in neurodegenerative disorders
Biochem J (July,2021)
mTOR: dissecting regulation and mechanism of action to understand human disease
Biochem Soc Trans (January,2009)
BRMS1 gene expression may be associated with clinico-pathological features of breast cancer
Biosci Rep (August,2017)