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. Author manuscript; available in PMC: 2011 Aug 1.
Published in final edited form as: Curr Opin Neurobiol. 2010 Sep 9;21(1):182–188. doi: 10.1016/j.conb.2010.08.014

Table 2.

Selected diseases discussed OMIM # Drosophila genes
discussed
Loss of function NMJ phenotypes
Hereditary Spastic Paraplegia 3 #182600 Atlastin more boutons, bouton clustering, satellite boutons, dense MT network, impaired movement
Hereditary Spastic Paraplegia 4 #182601 Spastin more boutons, bouton clustering, satellite boutons, dense MT network, impaired movement
Hereditary Spastic Paraplegia 6 #600363 Spichthyin more boutons, bouton clustering, dense MT network
Multiple Sclerosis #126200 Ema more boutons, increased synaptic area, enlarged endosomes
Huntington's Disease #143100 CIP4 more boutons, satellite boutons, increased synaptic area
Amyotrophic Lateral Sclerosis 8 #608627 Vap-33-1 fewer and larger boutons, severely disorganized and fragmented MT network
Spinal Muscular Atrophy I, II, III #253300, #253550, #253400 Smn fewer and larger boutons