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. 2017 Sep;105:283–299. doi: 10.1016/j.nbd.2017.02.004

Table 1.

Potential impact of MND-associated genes on the axonal transport pathway. Pathogenic variants of the proteins in this table have been linked to disrupted axonal transport.

Gene Protein Potential consequence of mutation on axonal transport Disease
ALS2 Alsin Impaired endocytic trafficking, signalling endosomes FALS (ALS2)
C9orf72 C9orf72 Defective transport of mitochondria FALS (ALS-FTD1); SALS; FTD
CHMP2B Charged multivesicular body protein 2B Impaired endocytic trafficking, signalling endosomes FALS (ALS17); SALS; FTD
DCTN1 Dynactin 1 (p150, glued homolog, Drosophila) Altered axonal transport and vesicle trafficking, impaired signalling endosome trafficking FALS; SALS; HMN7B; PMA; PSP; Perry syndrome
FUS RNA-binding protein FUS Defective transport of mitochondria, aberrant microtubule acetylation FALS (ALS6); SALS
SPG11 Spatacsin Axonal destabilisation, reduced tubulin acetylation, reduced anterograde vesicle transport FALS (ALS5); HSP (SPG11)
SOD1 Superoxide dismutase 1 Impaired transport of mitochondria, microtubule stability, modulation of motor proteins via p38 MAP kinase FALS (ALS1); SALS
TARDBP TAR DNA-binding protein 43 Defective transport of mitochondria and mRNP granules; reduced expression of dynactin 1; aberrant microtubule stability/acetylation, FALS (ALS10); SALS
TUBA4A Tubulin, alpha 4a Destabilisation of microtubules, general transport defect? FALS
VAPB Vesicle-associated membrane protein-associated protein B Impaired transport of mitochondria and vesicles FALS (ALS8); SMA; PMA
KIF1A Kinesin Family Member 1A Reduced kinesin-3 mediated transport HSP (SPG30)
KIF5A Kinesin heavy chain Reduced kinesin-1 mediated transport, impaired neurofilament transport HSP (SPG10)
SPAST Spastin Destabilisation of microtubules, impaired transport of mitochondria and vesicles HSP (SPG4)
AR Androgen receptor Defective retrograde and anterograde transport, modulation of motor proteins via JNK SBMA

Abbreviations: FALS, familial ALS; SALS, sporadic ALS; SMA, spinal muscular atrophy; SBMA, spinal and bulbar muscular atrophy; PMA, progressive muscular atrophy; FTD, frontotemporal dementia.