Review articleHereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
Abbreviations
ACP33
Maspardin gene
AD
Autosomal dominant
ALS
Amyotrophic lateral sclerosis
AP
Adaptor Protein complex
AR
Autosomal recessive
ATL1
Atlastin-1 gene
BMP
Bone morphogenic protein
BSCL2
Berardinelli-Seip congenital lipodystrophy gene
CYP7B1
Oxysterol 7-alpha-hydroxylase 1 gene
ER
Endoplasmic reticulum
ERLIN2
ER lipid raft associated 2 gene
GJA12/GJC2
Gap junction protein 12
HSN1
Hereditary sensory neuropathy type 1
HSP
Hereditary spastic paraplegia
HSPD1
Heat shock 60 kDa protein 1
KIAA0196
Strumpellin gene
KIAA0415
Putative helicase gene
KIAA1840
Spatacsin gene
KIF1A
Kinesin 3
KIF5A
Kinesin heavy chain isoform 5A
LICAM
L1-cell adhesion molecule
MASA
Mental retardation, aphasia, shuffling gait, and adducted thumbs
NBIA
Neurodegeneration with brain iron accumulation
NCAM
Neural cell adhesion molecule
NGS
Next-generation sequencing
NIPA1
Non-imprinted in Prader–Willi/Angelman syndrome 1 gene
NTE
Neuropathy Target Esterase
PLP1
Pproteolipid protein 1 gene
PNP
Polyneuropathy
REEP1
Receptor expression enhancing protein 1
RTN2
Reticulon 2
SLC16A2
Solute carrier family 16, member 2
SLC33A1
Solute carrier family 33
SPAST
Spastin gene
SPG
Spastic paraplegia gene
TCC
Thin corpus callosum
WMLs
White matter lesions
XL
X-linked
ZFYVE26
Zinc finger, FYVE domain containing 26
ZFYVE27
Zinc finger, FYVE domain containing 27
Keywords
Spasticity
Weakness
Genetics
Mutation
Hereditary
Familial
Multisystem
Central nervous system
Imaging
Antispastics
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