Table 3.
Clinical and Pathologic Findings Suggestive of MND Among Patients With GRN+ FTLD-TDP Designated by Contributing Site to Have MNDa
| Findings |
|||
|---|---|---|---|
| Patient | GRN Mutation | Pathologic | Clinical |
| 1 | c.348A>C, p.A89VfsX138 | UMN ubiquitinated inclusions and neuron loss | NR |
| 2 | c.675_676delCA, p.S226WfsX28 | LMN with possible Bunina body | Fasciculations, weakness, dysphagia, LMN disease shown on EMG |
| 3 | c.910_911insTG, p.W304LfsX58 | NR | Dysarthria and dysphagia at initial visit |
| 4 | c.1145delC, p.T382SfsX30 | UMN loss | Gait difficulty, dysphagia |
| 5 | c.1252C>T, p.R418X | NR | Bilateral facial weakness, prominent dysphagia |
Abbreviations: EMG, electromyogram; LMN, lower motor neuron; MDN, motor neuron disease; NR, not reported; UMN, upper motor neuron.
a
Five patients with GRN+ frontotemporal lobar degeneration characterized by TAR DNA-binding protein of 43-kDa–positive inclusions were indicated by the contributing site to have MND. Retrospective medical chart review provided clinical findings consistent with the presence of MND in 4 patients (patients 2, 3, 4, and 5) and pathologic findings consistent with MND in 3 patients (patients 1, 2, and 4).
A detailed case synopsis for patient 2 is provided in the supplementary text.