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Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V

10.1136/adc.85.1.29 Arch

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The Patient-Reported Outcome Measurement Information System (PROMIS-10), which measures a combination of physical, mental, and social determinants of health [55], as well as the NeuroQoL-fatigue, an 89 question survey about fatigue [56], correlate with ALSFRS-R scores [57] and are being incorporated more consistently across neurology trials, but are not specific to ALS

Microglia activation is usually followed by proliferation and release of pro-inflammatory cytokines such as TNF-, IL-1 and IL-6 [48], while there is strong evidence that this inflammatory state can lead to neuronal death in vitro and in vivo [49, 50]