ReviewHereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms
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Graphical abstract
Schematic representation of proteins and functional modules involved in HSP pathogenesis.
Abbreviations
AAA
ATPases associated with diverse cellular activities
AD
autosomal dominant
AEPs
auditory evoked potentials
AP
adaptor protein complex
AR
autosomal recessive
BiP
binding immunoglobulin protein
BMP
bone morphogenetic protein
CMT
Charcot–Marie–Tooth disease
DCVs
dense core vesicles
DTI
diffusion tensor imaging
ER
endoplasmic reticulum
EGFR
epidermal growth factor receptor
ERAD
ER-associated degradation
ESCRT
endosomal sorting complex required for transport
HSP
hereditary spastic paraplegia
JALS
juvenile amyotrophic lateral sclerosis
MEPs
motor evoked potentials
MIT
microtubule interacting and transport (domain)
NBIA
neurodegeneration with brain iron accumulation
RHD
reticulon homology domain
UPR
unfolded protein response
SCA
spinocerebellar ataxias
SEPs
sensory evoked potentials
SMA
spinal muscolar atrophy
SPG
spastic paraplegia gene
TCC
thin corpus callosum
VEPs
visual evoked potentials
WASH
Wiskott-Aldrich syndrome protein and scar homolog (complex)
WMLs
white matter lesions
XL
X-linked
Keywords
Hereditary spastic paraplegia
Molecular genetics
Neurodegenerative mechanisms
Neurology
Phenotype
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Copyright © 2014 The Authors. Published by Elsevier Inc.