Donders Institute for Brain, Cognition and Behaviour
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Thesis defense Megan Herbert (Donders Series 155)

8 July 2014

Promotor: Prof.dr. B. Bloem, copromotors: dr. M. Verbeek, dr. H.B. Kuiperij

Facing uncertain diagnosis: the use of CSF biomarkers for the differential diagnosis of neurodegenerative diseases

It can be difficult to distinguish one neurodegenerative disease from another because many of the symptoms occurring at disease onset in the one can be the same or similar to that of another disease. Therefore, the true cause of the symptoms may not be known for an extended period of time. During that time, many patients face an uncertain diagnosis. When this happens, it’s also difficult for doctors to determine optimal treatment and/or counselling of the patient because some of the medications used to treat one neurodegenerative disease can worsen symptoms when used to treat another disease.

Cerebrospinal fluid (CSF) surrounds the brain and exchanges molecules with the brain. Many of the pathological processes occurring in the brain are reflected by changes in the levels of these molecules in the CSF. Therefore, aberrant levels of CSF proteins that reflect specific pathological processes in the brain, may be useful as biological markers (biomarkers) for diagnosing neurodegenerative diseases. In this thesis I aimed to evaluate the diagnostic value of both stand-alone CSF biomarkers and combinations of CSF biomarkers for the diagnosis of some common neurodegenerative diseases. In particular, I looked at the diagnostic value of CSF biomarkers for distinguishing neurodegenerative diseases that are seemingly similar. We found several candidate CSF biomarkers that were useful for differentiating between neurodegenerative diseases. For example, the proteins neurofilament light chain and DJ-1were useful for distinguishing between Parkinson’s disease and multiple system atrophy; and a combination of biomarkers (MHPG, amyloid-β42, total tauand phosphorylated tau proteins) was useful for distinguishing Alzheimer’s disease from dementia with Lewy bodies but not other forms of dementia.