Tau Mutations Cause Frontotemporal Dementias Michel Goedert, R.Anthony Crowther, Maria Grazia Spillantini  Neuron  Volume 21, Issue 5, Pages 955-958 (November 1998) DOI: 10.1016/S0896-6273(00)80615-7

Figure 1 Mutations in the Tau Gene in Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17 (FTDP-17) (a) Schematic diagram of the six tau isoforms (A–F) that are expressed in adult human brain. Alternatively spliced exons are shown in red (exon 2), green (exon 3), and yellow (exon 10), and black bars indicate the microtubule-binding repeats. Four missense mutations in the coding region are shown. They affect all six tau isoforms, with the exception of P301L, which only affects tau isoforms with four microtubule-binding repeats. Amino acid numbering corresponds to the 441-amino-acid isoform of human brain tau. (b) Predicted stem-loop in the pre-mRNA at the 3′ end of exon 10. The likely destabilizing effects of the four intronic mutations are indicated using one possible representation of the stem-loop. Exon sequences are shown in capital and intron sequences in lower case letters. Neuron 1998 21, 955-958DOI: (10.1016/S0896-6273(00)80615-7)

Figure 2 Tau Filaments in FTDP-17 Dutch family 1 is characterized by the presence of narrow twisted ribbons (A) and occasional rope-like filaments (B). The tau pathology is both neuronal and glial. Familial multiple system tauopathy with presenile dementia is characterized by wide twisted ribbons (C), which may be formed by two copies of the narrow twisted ribbons joined across the central axis. The tau pathology is both neuronal and glial. Seattle family A is characterized by the presence of paired helical (D) and straight (E) filaments. The tau pathology is largely neuronal. Scale bar, 100 nm. Neuron 1998 21, 955-958DOI: (10.1016/S0896-6273(00)80615-7)