Table 3 Neuropathological features of MAPT R406W patients

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