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. 2022 Feb 1;23(3):1697. doi: 10.3390/ijms23031697

Table 4.

Cellular models are involved in the pathogenesis of HSP, including the genes involved and HSP subtypes in each category.

Cellular Models Involved in HSP Pathogenesis Proteins SPG Forms
1. Organelle’s morphogenesis/membrane structure
  • Microtubule/membrane structure-associated ATPase


  • ER tubules linking GTPase


  • ER morphology organizer


 
 
 
 
 
 
 
  • Modulating lipid metabolism and droplet formation


  • Regenerating lysosome



  • Adaptor proteins




  • Tubule formation in endosomes


  • Defects in organelles morphology inducing axonal pathology (lysosome and ER endosomes)


 
SPAST
 
 
Atlastin
 
SPAST
Atlastin
REEP1
Reticulon 2
ARL6IP1
RAB3GAP2
Protrudin
REEP2
 
AIP4/Spartin
SLC33A1
 
Spatacsin
Spastizin
 
AP-4 for trafficking precursors of amyloids
 
 
Strumpellin
 
REEP1
Atlastin
Spastizin
Spatacsin
Strumpellin

 
SPG4
 
 
SPG3A
 
SPG4
SPG3A
SPG31
SPG12
SPG61
SPG69
SPG33
SPG72
 
SPG20
SPG43
 
SPG11
SPG15
 
SPG47
SPG50
SPG52
 
SPG8
 
SPG31
SPG3A
SPG15
SPG11
SPG8
2. Bone morphogenic proteins NIPA1
Atlastin-1
Spastin
Acetyl-CoA transporter
SPG6
SPG42
SPG3A
SPG4
3. Motor proteins transportation KIF5A
KIF1C
KIF1A
SPG10
SPG58
SPG30
4. Mitochondrial failure Paraplegin
HSP60
IBA57
Spartin
SPG7
SPG13
SPG74/SPG77
SPG20
5. Axon elongation path L1CAM SPG1
6. Myelination errors PLP1
GJC2
MAG
SPG2
SPG44
SPG75
7. Nucleotide’s metabolism AMPD2
NT5C2
ENTPD1
SPG63
SPG65
SPG64