Is the neuropathological 'gold standard' diagnosis dead? Implications of clinicopathological findings in an autosomal dominant neurodegenerative disorder

Ryan J Uitti; Donald B Calne; Dennis W Dickson; Zbigniew K Wszolek

doi:10.1016/j.parkreldis.2004.10.001

Is the neuropathological 'gold standard' diagnosis dead? Implications of clinicopathological findings in an autosomal dominant neurodegenerative disorder

Parkinsonism Relat Disord. 2004 Dec;10(8):461-3. doi: 10.1016/j.parkreldis.2004.10.001.

Authors

Ryan J Uitti¹, Donald B Calne, Dennis W Dickson, Zbigniew K Wszolek

Affiliation

¹ Department of Neurology and the Section of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA. uitti.ryan@mayo.edu

PMID: 15542004
DOI: 10.1016/j.parkreldis.2004.10.001

Abstract

Genetically-derived neurodegenerative disorders offer a rare opportunity to test validity of neuropathological criteria for diagnosis. Implications regarding an autosomal dominant neurodegenerative disorder (PARK 8) in which four different neuropathological diagnoses were found at autopsy are discussed. We suggest that just as there is currently no clinical 'gold standard' for Parkinson's disease, there is no pathological 'gold standard.' We conclude that in certain circumstances genetic studies may provide definitive arbitration of validity of clinical and pathological diagnostic criteria.

MeSH terms

Heredodegenerative Disorders, Nervous System / diagnosis*
Heredodegenerative Disorders, Nervous System / genetics
Heredodegenerative Disorders, Nervous System / pathology*
Humans
Neurologic Examination / standards*
Parkinson Disease / diagnosis
Parkinson Disease / genetics
Parkinson Disease / pathology