The bvFTD phenocopy syndrome: a case study supported by repeated MRI, [¹⁸F]FDG-PET and pathological assessment

Figures & data

Table 1. Serial neuropsychological examinations

Time, years	May, 2000	Dec, 2000	Jan, 2002	Jan, 2003	Dec, 2005	March, 2007	April,2008	Nov, 2008	March, 2010	March, 2011	April, 2012
Attention, concentration
speed
Digit span forward extended	11(+0.1)	10 (-0.4)	10 (-0.4)	13 (+0.9)	14 (+1.3)	16 (+2.2)	12 (+0.5)	16 (+2.2)	13 (+0.9)	13 (+0.9)	16 (+2.2)
Trail Making test A	33”(+0.5)	44”(-0.5)	30” (+0.8)	39” (0.0)	36” (+0.4)	54” (-0.9)	40” (+0.2)	38” (+0.3)	36” (+0.6)	83” (-2.2)	36” (+0.7)
Episodic memory
RAVLT*
Encoding, total 5 trials	42 (+0.4)	33 (-0.7)	44 (+0.7)	38 (0.0)	39 (+0.2)	31 (-0.8)	28(-1.1)	41 (+0.5)	44 (+0.9)	48 (+1.5)	46 (+1.3)
Delayed recall	6(-0.6)	6 (-0.6)	7(-0.2)	7 (-0.2)	9 (+0.6)	0 (-2.9)	7 (-0.2)	9 (+0.6)	10 (+1.0)	9 (+0.6)	9 (+0.6)
Recognition^a	29/30	29/30	28/30	29/30	30/30	7/30	27/30	27/30	28/30	29/30	28/30
Semantic memory
& language^b
Category Fluency	17 (-0.8)	23 (+0.4)	20(-0.2)	14 (-1.3)	16 (-1.0)	19(-0.4)	9(-2.3)	18 (-0.6)	16 (-1.0)	16 (-1.0)	15 (-1.0)
Naming objects (VAT*)	(-)	12/12	8/12	11/12	10/12	12/12	(-)	(-)	11/12	12/12	12/12
Executive functions
Trail making test B	229” (-2.7)	103” (-0.3)	81” (+0.5)	137”(-1.1)	111” (-0.3)	127”(-0.6)	142” (-0.8)	109” (0.0)	165” (-1.1)	95” (+0.6)	86” (+0.9)
Letter Fluency (letter DAT, 1 minute)	(-)	23 (-0.7)	(-)	16(-1.4)	17 (-1.3)	5(-2.5)	15(-1.5)	16 (-1.4)	(-)	16 (-1.4)	27(-0.3)
Score Digit span backwards	3(-1.9)	6 (-0.6)	7(-0.1)	5(.1.0)	7(-0.1)	4 (-0.1)	4 (-1.5)	6(-0.6)	4 (-1.5)	3 (-1.9)	4 (-1.5)
Visuospatial functioning
VOSP - Dot counting^c	(-)	(-)	(-)	(-)	(-)	(-)	(-)	(-)	8/10	7/10	7/10

Abbreviations*: RAVLT Rey Auditory Verbal Learning Test | VAT Visual Association Test | VOSP Visual Object and Space Perception. Data represent raw test scores (z-score), or completion time in seconds(“), adjusted for age, sex and education level. Test has not been conducted (-). Education level was classified as 3, using the Verhage system (Verhage, 1965) ranging from 1 (no or little education) to 7 (highest academic degree). The intelligence quotient (IQ) was 88 (low average), measured with a verbal test. Abnormal scores are in bold, low average scores are in italics. Nota bene: scores are abnormal in the range of very low and low. Z-scores reflect: -2.9 till -2.1 = very low; -2.0 till -1.4 = low; -1.3 till -0.7 = low average; -0.6 till +0.6 = average; +0.7 till +1.3 = high average; +1.4 till +1.9 = high; +2.0 till ≥2.3= very high.^acut off = 26/30. ^bparaphasias were present throughout the entire diagnostic testing. ^ccut off = 7/10.

Figure 1. Serial MRI results. *Abbreviation: MRI: Magnetic resonance imaging (MRI). Overview of raw data of MRI scans of the brain which were performed between 2000 and 2009, including scanner type and age at time of performance. At visual inspection there is no progressive atrophy

Figure 2. Neuropathological images of brain autopsy. *Abbreviations: ABC score; Amyloid βeta plaque score (A), Braak neurofibrillary tangles (NFT) (B), Consortium to Establish a Registry for AD (CERAD) neuritic plaque score (C). Neuropathological examination revealed a A3 B2 C2 score fitting an intermediate score for Alzheimer’s disease neuropathological change (Thal et al., 2002). A. Hematoxylin and eosin staining (HE) of second frontal gyrus displaying normal cellularity B Amyloid beta staining of hippocampus, Cornu Ammonis (CA) area 4, showing amyloid plaques Thal phase 4 out of 5 (A3)C AT8 staining of transentorhinal cortex, showing moderate presence of phosphorylated tau (NFT stage 2 (B2) as tangles (example thin arrow); neuropil threads (thick arrow) and as neuritic plaques (example arrow head). D Negative TDP-43 staining of second frontal gyrus

Thal, D. R., Rüb, U., Orantes, M., & Braak, H. (2002). Phases of Aβ-deposition in the human brain and its relevance for the development of AD. Neurology, 58(12), 1791–1800. https://doi.org/10.1212/WNL.58.12.1791

 PubMed Web of Science ®Google Scholar