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with consequent axonal damage. As a consequence, peripheral neuropathies can develop, ranging from paresthesia to paraparesis (Figure 1) [50]. A large case series of 168 females showed that AAG can be linked to infertility, recurrent...

Mutation T300A increases risk of Crohn’s disease 159,160 TECPR2 Interacts with LC3 Mutations cause spastic paraparesis 33 ZFYVE26 Autophagosome maturation Mutations cause spastic paraplegia 34 EPG5 Autophagosome-lysosome fusion...

have been identified in atypical forms of PLS with infantile or juvenile onset [34,35,36], infantile ascending spastic paraparesis [37], and hereditary spastic paresis [35,38], with overlapping phenotypes and no clear genotype–phenotype...

麻痺性拘縮】 *paralytic gait【麻痺性歩行】 *paralytic scoliosis【麻痺性側彎症】 *parameter【パラメーター、指標】 *paraparesis【不全対麻痺】 *paraplegia【対麻痺】 *parenteral administration【非経口投与】 *parenteral alimentation【非経口...