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Table 3 Neuropathological features of MAPT R406W patients

From: Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review

Kindred Patient (DD) Neuronal tau Glial tau Ultrastructure of tau filaments Tau biochemistry/isoforms Amyloid α-Synuclein Interpretation
Midwest American/FTD004 family [10, 31, 32, 34] 1 (30) NFT, NT, globose tangles Occasional astrocytes (tangle-like inclusions) PHF Six fractions; both wild-type and mutated tau in deposits None   PSP
Dutch family [5, 19, 31, 33, 45] 1 (13) NFT, some pretangles, dystrophic neurites, NT, a few PB Occasional glial cells PHF and SF 3R and 4R isoforms; both wild-type and mutated tau in deposits, 4R < 3R DP (low density), no congophilic plaques, no angiopathy None  
2 (13) NFT, NT, diffuse/amorphous cytoplasmic tau deposits None PHF as in AD, and SF (minority of filaments) 3R and 4R isoforms; six fractions; both wild-type and mutated tau in deposits, ghost tangles NP (moderate density)   
Japanese family 1 [46] 1 NFT, NT Oligodendroglial coiled bodies (only Gallyas-Braak staining reported) N/A Both wild-type and mutated tau in deposits; widespread ghost tangles None None Features of PSP/CBD/tangle-only dementia
U.S. family 2 [35] 1 NFT, NT, no PB None N/A 3R and 4R isoforms None No LB NFT dementia
Danish family [4] 1 NFT, NT, no PB Occasional glial cells (fibrillary inclusions) N/A 3R and 4R isoforms; 4R < 3R NP (CERAD A); many DP None  
Japanese family 2 [6] 1 NFT, NT, PB-like inclusions (or globose tangles) Cytoplasmic immunoreactivity in glia N/A 4R < 3R isoforms; 3R-positive ghost cells NP (CERAD C); many DP   
U.S. family 3 (ZKW, personal communication) 1 (29) NFT, NT   N/A 3R and 4R isoforms NP   AD
U.K. patient [17] 1 NFT, PB Astrocytic plaques N/R N/R N/R N/R N/R
Swedish family (present report) III:1 (2) NFT, NT, neurites Tufted astrocytes N/A 4R > 3R None None PSP-like dementia (minimal material)
III:3 (27) NFT, NT, neurites Tufted astrocytes, glial plaques N/A 4R > 3R None None PSP-like dementia
III:6 (26) NFT, NT, neurites Tufted astrocytes N/A 4R > 3R None Minimal (focal in CA2) PSP-like dementia
  1. AD Alzheimer’s disease, 3R tau Three-repeat (exon 10−) tau isoform, 4R tau Four-repeat (exon 10+) tau isoform, CA Cornu Ammonis area, CERAD Consortium to Establish a Registry for Alzheimer’s Disease, DD Duration of disease, PHF Paired helical filaments, SF Straight filaments, NFT Neurofibrillary tangles, NT Neutrophil threads, PB Pick bodies, NP Neuritic plaques, DP Diffuse plaques, Six fractions All six insoluble tau fractions detected, CBD Corticobasal dementia, LB Lewy bodies