There is a study by Alessandro Biffi and colleagues titled ‘Screening for Familial APP Mutations in Sporadic Cerebral Amyloid Angiopathy’ and which is freely available here. The researchers are interested in answering the question ‘Should we be screening for familial Cerebral Amyloid Angiopathy gene mutations or novel mutations in sporadic Cerebral Amyloid Angiopathy’. This condition has relevance to vascular dementia. The Boston criteria the researchers use for the diagnosis are given in Table 1 and based on these criteria they divide up cases into probable or definite Cerebral Amyloid Angiopathy (CAA). They identified 58 subjects, 35 having probable CAA and 23 having confirmed CAA. They examined the APP gene and four flanking genes and found no evidence of the novel or familial mutations in their sample. They from this study they found no evidence to support the screening of this population with the stated markers. The researchers note that they have restricted screening to currently identified mutations. They also suggest that mutations in exons 16 and 17 will be of low frequency and corresponding low risk (at the population level). They recommend larger replications studies to further investigate the relationship between APP variants and spontaneous CAA. One of the neat features of this paper is that a practical question is given an explicit evidence based response in the discussion.
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