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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

Frequency of behavioural and cognitive symptoms in patients with the C9ORF72 expansion (%).The numbers at the end of the bars represent percentage frequencies. Neuropsychological examination was done to 32 study subjects out of 36.
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pone.0131817.g002: Frequency of behavioural and cognitive symptoms in patients with the C9ORF72 expansion (%).The numbers at the end of the bars represent percentage frequencies. Neuropsychological examination was done to 32 study subjects out of 36.

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)

Frequency of behavioural and cognitive symptoms in patients with the C9ORF72 expansion (%).The numbers at the end of the bars represent percentage frequencies. Neuropsychological examination was done to 32 study subjects out of 36.
© Copyright Policy
Related In: Results  -  Collection

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

pone.0131817.g002: Frequency of behavioural and cognitive symptoms in patients with the C9ORF72 expansion (%).The numbers at the end of the bars represent percentage frequencies. Neuropsychological examination was done to 32 study subjects out of 36.
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