CSF Markers in CADASIL

There is a paper on CADASIL and CSF biomarkers by Formichi and colleagues in the International Journal of Alzheimer’s Disease freely available here. As CADASIL (Cerebral Autosomal Dominant Arteriopathy)(see reviews here and here) is an unambiguous model of vascular dementia the researchers compared people with CADASIL and Alzheimer’s Disease with the intention of clarifying useful biomarkers for discrimating between both conditions.  Firstly the study is fairly small – there are 10 people with CADASIL being compared with 22 people with Alzheimer’s Disease and 17 controls with polyneuropathy (the control group is an interesting choice). Nevertheless given the prevalence of CADASIL in the population it might be difficult to recruit the larger numbers that might result from power calculations and so in some senses this might be considered a pilot study. The diagnosis of CADASIL was determined genetically and cognitive impairment was assessed using the MMSE. Although the diagnosis of Alzheimer’s Disease was made using the NINCDS-ADRDA criterion there is an an advantage in establishing CADASIL related vascular dementia using the NINCDS-AIREN criteria and with more detailed neuropsychological testing. The groups are compared using CSF biomarkers – ABeta42, t-tau and p-tau. Pairwise group comparisons with Bonferroni corrections are detailed with the reasoning in the methods section. The clear findings were that the people with Alzheimer’s Disease (AD) had a statistically significant elevation in CSF p-tau and t-tau levels compared to the other groups. However Table 1 shows the characteristics of the CADASIL group and the MMSE data shows most of the subjects producing scores in the mid-twenties. Thus the questions that can be asked are ‘what proportion of the CADASIL group are experiencing vascular dementia’ and ‘is there enough data to draw such conclusions?’. Nevertheless even if this cannot reasonably be concluded, the comparison will be contrasting two types of pathology albeit at different stages of cognitive impairment. For this reason a comparison of MMSE scores in both groups would have been interesting although of limited utility. The researchers discuss some of the limitations of the study while focusing on the potential for the tau markers to represent useful biomarkers discriminating between AD and VaD.

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