Is the neuropathological 'gold standard' diagnosis dead? Implications of clinicopathological findings in an autosomal dominant neurodegenerative disorder.
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.
Uitti
Ryan J
RJ
Department of Neurology and the Section of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA. uitti.ryan@mayo.edu
Calne
Donald B
DB
Dickson
Dennis W
DW
Wszolek
Zbigniew K
ZK
D020271:Heredodegenerative Disorders, Nervous System / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D006801:Humans; D009460:Neurologic Examination / Q000592:standards*; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics / Q000473:pathology