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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

Flow chart of the study.Thirty-six patients with the C9ORF72 expansion were examined. Seventy-five percent (N = 27) of the study participants met the possible FTDC criteria and 64% (N = 23) met the probable FTDC criteria. Altogether 25% did not meet FTDC possible criteria. Seventy-eight percent of them (N = 7) had positive neuroimaging result and 22% (N = 2) had negative neuroimaging result for FTD.
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pone.0131817.g001: Flow chart of the study.Thirty-six patients with the C9ORF72 expansion were examined. Seventy-five percent (N = 27) of the study participants met the possible FTDC criteria and 64% (N = 23) met the probable FTDC criteria. Altogether 25% did not meet FTDC possible criteria. Seventy-eight percent of them (N = 7) had positive neuroimaging result and 22% (N = 2) had negative neuroimaging result for FTD.

Mentions: When the total cohort, i.e. 36 patients with the C9ORF72 expansion, was assessed 75% of the patients (N = 27) met the FTDC criteria for possible bvFTD (0.75 sensitivity, SD 0.44, 95%CI 0.57–0.87) and 64% (N = 23) met the probable bvFTD criteria (0.64 sensitivity, SD 0.49, 95%CI 0.46–0.79) (Fig 1). If we assessed only pure bvFTD (N = 32), the sensitivity of the possible bvFTD criteria was 0.81 (SD 0.40, 95%CI 0.63–0.92) and sensitivity of the probable bvFTD criteria was 0.69 (SD 0.47, 95%CI 0.50–0.83), whereas these figures for bvFTD-MND (N = 4) were both only 0.25. All of the cases suffered from one or more symptoms of FTLD at the time of diagnosis.


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)

Flow chart of the study.Thirty-six patients with the C9ORF72 expansion were examined. Seventy-five percent (N = 27) of the study participants met the possible FTDC criteria and 64% (N = 23) met the probable FTDC criteria. Altogether 25% did not meet FTDC possible criteria. Seventy-eight percent of them (N = 7) had positive neuroimaging result and 22% (N = 2) had negative neuroimaging result for FTD.
© Copyright Policy
Related In: Results  -  Collection

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

pone.0131817.g001: Flow chart of the study.Thirty-six patients with the C9ORF72 expansion were examined. Seventy-five percent (N = 27) of the study participants met the possible FTDC criteria and 64% (N = 23) met the probable FTDC criteria. Altogether 25% did not meet FTDC possible criteria. Seventy-eight percent of them (N = 7) had positive neuroimaging result and 22% (N = 2) had negative neuroimaging result for FTD.
Mentions: When the total cohort, i.e. 36 patients with the C9ORF72 expansion, was assessed 75% of the patients (N = 27) met the FTDC criteria for possible bvFTD (0.75 sensitivity, SD 0.44, 95%CI 0.57–0.87) and 64% (N = 23) met the probable bvFTD criteria (0.64 sensitivity, SD 0.49, 95%CI 0.46–0.79) (Fig 1). If we assessed only pure bvFTD (N = 32), the sensitivity of the possible bvFTD criteria was 0.81 (SD 0.40, 95%CI 0.63–0.92) and sensitivity of the probable bvFTD criteria was 0.69 (SD 0.47, 95%CI 0.50–0.83), whereas these figures for bvFTD-MND (N = 4) were both only 0.25. All of the cases suffered from one or more symptoms of FTLD at the time of diagnosis.

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