Psychiatric diagnoses underlying the phenocopy syndrome of behavioural variant frontotemporal dementia

Gossink, Flora; Dols, Annemiek; Kerssens, Cora J.; Krudop, Welmoed; Kerklaan, B. J.; Scheltens, Philip; Stek, Max L.; Pijnenburg, Yolande A.L.

doi:10.1136/jnnp-2014-308284

Cited by 43 publications

(64 citation statements)

References 22 publications

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“…Systematic screening for C9orf72 in all patients would be interesting for future analyses of the cohort. Furthermore, the so-called phenocopy syndrome, possibly without a neurodegenerative origin, can mimic real bvFTD [45,46,47]. …”

Section: Discussionmentioning

confidence: 99%

Impact of Imaging and Cerebrospinal Fluid Biomarkers on Behavioral Variant Frontotemporal Dementia Diagnosis within a Late-Onset Frontal Lobe Syndrome Cohort

Krudop¹,

Dols

Kerssens

et al. 2015

Dement Geriatr Cogn Disord

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Background: The criteria for behavioral variant frontotemporal dementia (bvFTD) incorporate MRI and [¹⁸F]-FDG-PET. Cerebrospinal fluid (CSF) analysis is merely advised for excluding Alzheimer's disease. Aims: We aimed to assess the impact of biomarkers on diagnostic certainty and contingent changes of bvFTD diagnosis within the clinically relevant neuropsychiatric differential diagnosis of subjects with a late-onset frontal lobe syndrome (LOF). Methods: We included 137 patients with LOF, aged 45-75 years, 72% males. Biomarker disclosure was considered contributing after any substantial difference in diagnostic certainty or a diagnostic change. Percentages of contributing biomarkers were compared between three major diagnostic groups (bvFTD, psychiatry, other neurological disorders). Certainty levels in stable diagnostic groups were compared to those with a diagnostic change. Results: Biomarkers contributed in 53, 60 and 41% of the LOF patients for MRI, [¹⁸F]-FDG-PET and CSF, respectively. Biomarkers changed the diagnosis in 14% of cases towards bvFTD and in 13% from bvFTD into an alternative. Those that changed had a lower level of a priori diagnostic certainty compared to stable diagnoses. Conclusion: Our study not only supports the widely accepted use of MRI and [¹⁸F]-FDG-PET in diagnosing or excluding bvFTD, but also shows that CSF biomarkers aid clinicians in the diagnostic process.

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Section: Discussionmentioning

confidence: 99%

Impact of Imaging and Cerebrospinal Fluid Biomarkers on Behavioral Variant Frontotemporal Dementia Diagnosis within a Late-Onset Frontal Lobe Syndrome Cohort

Krudop¹,

Dols

Kerssens

et al. 2015

Dement Geriatr Cogn Disord

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“…There are reports of C9orf72 expansion carriers with slowly progressing disease that satisfy criteria for the phenocopy syndrome,3 although presumably these cases would show TDP-43 and di-peptide repeat protein deposition at autopsy. A recent study examined the personality and psychiatric background of phenocopy cases and found that many have a complex medical history including personality and psychiatric illnesses, although C9orf72 testing was not performed in this cohort 4. Another theory exists that these cases represent decompensated autism, and while there are many similarities between the conditions, this remains to be proven.…”

Section: Discussionmentioning

confidence: 94%

The bvFTD phenocopy syndrome: a clinicopathological report

Devenney

Forrest

Xuereb

et al. 2016

J Neurol Neurosurg Psychiatry

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“…16 Patients with bvFTD phenocopy syndrome who fail to progress have increased rates of mood disorders, substance abuse, obsessive-compulsive personality traits, Asperger syndrome traits, or recent intense life events that likely contribute to the observed behaviors. 17 Comment. There is commonly a long delay between the onset of symptoms and time of presentation, given the subtle nature of the personality and behavior changes that are the hallmark of early FTD.…”

Section: Diagnostic Challenges In Behavioral Variant Of Frontotemporamentioning

confidence: 99%

Frontotemporal Dementias

Finger¹

2016

CONTINUUM: Lifelong Learning in Neurology

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The FTDs are a group of neurodegenerative disorders featuring progressive deterioration of behavior or language and associated pathology in the frontal or temporal lobes. Based on anatomic, genetic, and neuropathologic categorizations, the six clinical subtypes of FTD or related disorders are: (1) behavioral variant of FTD, (2) semantic variant primary progressive aphasia, (3) nonfluent agrammatic variant primary progressive aphasia, (4) corticobasal syndrome, (5) progressive supranuclear palsy, and (6) FTD associated with motor neuron disease. Recognition and accurate diagnoses of FTD subtypes will aid the neurologist in the management of patients with FTD.

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Psychiatric diagnoses underlying the phenocopy syndrome of behavioural variant frontotemporal dementia

Cited by 43 publications

References 22 publications

Impact of Imaging and Cerebrospinal Fluid Biomarkers on Behavioral Variant Frontotemporal Dementia Diagnosis within a Late-Onset Frontal Lobe Syndrome Cohort

Impact of Imaging and Cerebrospinal Fluid Biomarkers on Behavioral Variant Frontotemporal Dementia Diagnosis within a Late-Onset Frontal Lobe Syndrome Cohort

The bvFTD phenocopy syndrome: a clinicopathological report

Frontotemporal Dementias

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