The Phenotype of the XXXX Expansion Carriers According to Revised Criteria for bvFTD.

@entity1 @entity146 @entity303 @entity4681 @entity716 @entity3301
BACKGROUND: The @entity3301 expansion is one of the most common genetic etiologies observed with behavioural variant frontotemporal @entity303 (bvFTD). Revised diagnostic criteria for bvFTD (FTDC) were recently introduced but only a few studies have evaluated the accuracy of these criteria. OBJECTIVE: The objective of the study was to evaluate the applicability of the FTDC criteria and assess the @entity146 history of these @entity1 . METHODS: The study examined 36 @entity1 carrying the @entity3301 expansion and suffering from bvFTD (N = 32) or from bvFTD with @entity4681 (bvFTD-MND, N = 4). Neuropsychological, neuropsychiatric, structural brain imaging and PET/SPECT data were evaluated. RESULTS: We found 0.75 sensitivity (SD 0.44, 95%CI 0.57-0.87) for possible bvFTD and 0.64 (SD 0.44, 95%CI 0.57-0.87) for probable bvFTD. The sensitivity was even higher in bvFTD @entity1 without MND, i.e., 0.81 for possible bvFTD and 0.69 for probable bvFTD. PET/SPECT was normal in 17.6% of scanned @entity1 with bvFTD. A history of @entity146 symptoms ( @entity716 and/or mood symptoms) was detected in 61% of cases. CONCLUSIONS: The FTDC possible and probable bvFTD criteria seem to identify the majority of the @entity3301 expansion carriers with bvFTD, even though they exhibit only a limited number of behavioral criteria but a significant amount of @entity146 symptoms. The presence of a normal PET/SPECT does not exclude the possibility the @entity3301 associated bvFTD.
