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The Phenotype of the C9ORF72 Expansion Carriers According to Revised Criteria for bvFTD.

Solje E, Aaltokallio H, Koivumaa-Honkanen H, Suhonen NM, Moilanen V, Kiviharju A, Traynor B, Tienari PJ, Hartikainen P, Remes AM - PLoS ONE (2015)

Bottom Line: 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 FTDC possible and probable bvFTD criteria seem to identify the majority of the C9ORF72 expansion carriers with bvFTD, even though they exhibit only a limited number of behavioral criteria but a significant amount of psychiatric symptoms.The presence of a normal PET/SPECT does not exclude the possibility the C9ORF72 associated bvFTD.

View Article: PubMed Central - PubMed

Affiliation: Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland.

ABSTRACT

Background: The C9ORF72 expansion is one of the most common genetic etiologies observed with behavioural variant frontotemporal dementia (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 psychiatric history of these patients.

Methods: The study examined 36 patients carrying the C9ORF72 expansion and suffering from bvFTD (N = 32) or from bvFTD with motor neuron disease (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 patients without MND, i.e., 0.81 for possible bvFTD and 0.69 for probable bvFTD. PET/SPECT was normal in 17.6% of scanned patients with bvFTD. A history of psychiatric symptoms (psychotic 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 C9ORF72 expansion carriers with bvFTD, even though they exhibit only a limited number of behavioral criteria but a significant amount of psychiatric symptoms. The presence of a normal PET/SPECT does not exclude the possibility the C9ORF72 associated bvFTD.

No MeSH data available.


Related in: MedlinePlus

Cumulative percentage of possible features of the FTDC criteria (%) in patients with the C9ORF72 expansion.The numbers at the end of the bars represent cumulative percentage frequencies of possible bvFTD features. All the study participants had at least one possible feature and 5.6% had all the six features.
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pone.0131817.g003: Cumulative percentage of possible features of the FTDC criteria (%) in patients with the C9ORF72 expansion.The numbers at the end of the bars represent cumulative percentage frequencies of possible bvFTD features. All the study participants had at least one possible feature and 5.6% had all the six features.

Mentions: The mean number of behavioural and cognitive criteria of possible bvFTD in the total cohort was 3.19 (SD 1.26, 95%CI 2.77–3.62, range 1–6) (Figs 2 and 3). In pure bvFTD patients without MND, the mean number of possible bvFTD features was 3.38 (SD 1.2, 95%CI 2.95–3.80, range 1–6), while in FTD-MND patients, the number of possible bvFTD features was only 1.75 (range 1–3). All bvFTD-MND cases displayed a positive neuropsychological profile for bvFTD, but behavioral changes were absent.


The Phenotype of the C9ORF72 Expansion Carriers According to Revised Criteria for bvFTD.

Solje E, Aaltokallio H, Koivumaa-Honkanen H, Suhonen NM, Moilanen V, Kiviharju A, Traynor B, Tienari PJ, Hartikainen P, Remes AM - PLoS ONE (2015)

Cumulative percentage of possible features of the FTDC criteria (%) in patients with the C9ORF72 expansion.The numbers at the end of the bars represent cumulative percentage frequencies of possible bvFTD features. All the study participants had at least one possible feature and 5.6% had all the six features.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4493025&req=5

pone.0131817.g003: Cumulative percentage of possible features of the FTDC criteria (%) in patients with the C9ORF72 expansion.The numbers at the end of the bars represent cumulative percentage frequencies of possible bvFTD features. All the study participants had at least one possible feature and 5.6% had all the six features.
Mentions: The mean number of behavioural and cognitive criteria of possible bvFTD in the total cohort was 3.19 (SD 1.26, 95%CI 2.77–3.62, range 1–6) (Figs 2 and 3). In pure bvFTD patients without MND, the mean number of possible bvFTD features was 3.38 (SD 1.2, 95%CI 2.95–3.80, range 1–6), while in FTD-MND patients, the number of possible bvFTD features was only 1.75 (range 1–3). All bvFTD-MND cases displayed a positive neuropsychological profile for bvFTD, but behavioral changes were absent.

Bottom Line: 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 FTDC possible and probable bvFTD criteria seem to identify the majority of the C9ORF72 expansion carriers with bvFTD, even though they exhibit only a limited number of behavioral criteria but a significant amount of psychiatric symptoms.The presence of a normal PET/SPECT does not exclude the possibility the C9ORF72 associated bvFTD.

View Article: PubMed Central - PubMed

Affiliation: Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland.

ABSTRACT

Background: The C9ORF72 expansion is one of the most common genetic etiologies observed with behavioural variant frontotemporal dementia (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 psychiatric history of these patients.

Methods: The study examined 36 patients carrying the C9ORF72 expansion and suffering from bvFTD (N = 32) or from bvFTD with motor neuron disease (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 patients without MND, i.e., 0.81 for possible bvFTD and 0.69 for probable bvFTD. PET/SPECT was normal in 17.6% of scanned patients with bvFTD. A history of psychiatric symptoms (psychotic 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 C9ORF72 expansion carriers with bvFTD, even though they exhibit only a limited number of behavioral criteria but a significant amount of psychiatric symptoms. The presence of a normal PET/SPECT does not exclude the possibility the C9ORF72 associated bvFTD.

No MeSH data available.


Related in: MedlinePlus