The Sant Pau Memory Unit has published in the Journal of Neurology, Neurosurgery and Psychiatry the results of a collaborative study with researchers from University of Pennsylvania (Penn FTD Center) that characterize two markers of frontotemporal degeneration.
Frontotemporal degeneration causes progressive behavioural changes and/or language impairment. Sometimes, it is associated with motor problems such as parkinsonism or motor neuron disease. To date, no markers have proven enough accuracy to reach a definite diagnosis for this disease during lifetime, and therefore, the diagnosis is mainly based on the presence of typical clinical symptoms and the exclusion of other possible causes. Most of times, the diagnosis of frontotemporal degeneration can only be confirmed in the neuropathological analysis at autopsy.
What was done in this study?
In this collaborative study, researchers at the Sant Pau Memory Unit analyzed 223 cerebrospinal fluid samples from the University of Pennsylvania obtained from patients with frontotemporal degeneration, Alzheimer’s disease and cognitively healthy volunteers. The particularity of these participants is that they were followed to autopsy and their diagnoses were confirmed. In these samples, the Sant Pau team measured the levels of two proteins previously identified as candidate markers useful in the diagnosis of the disease: sAPPß (a soluble fragment of amyloid precursor protein) and YKL-40 (related to neuroinflammation).
Main results and relevance of the study
The results of the study show that patients with confirmed frontotemporal degeneration had lower levels of sAPPß and higher levels of YKL-40 in cerebrospinal fluid compared to cognitively healthy participants. These results confirm those observed in a multicenter study led by the Sant Pau Memory Unit and published in Neurology in 2017, in which more than 300 samples were analyzed from participants with suspected frontotemporal degeneration, Alzheimer and cognitively healthy recruited in centers in Barcelona, Madrid, Lleida and Mallorca.
The combination of sAPPß and YKL-40 could be useful in particular clinical settings when frontotemporal degeneration is suspected.
Details of this study can be found here:
Elevated YKL-40 and low sAPPβ/YKL-40 ratio in ante-mortem cerebrospinal fluid of patients with pathologically-confirmed FTLD. Alcolea D, Irwin DJ, Illán-Gala I et al. J Neurol Neurosurg Psychiatry 2018