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Browse result for Spastic paraplegia

※ introduction

    Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease, or Strumpell-Lorrain disease. The symptoms are a result of dysfunction of long axons in the spinal cord. The affected cells are the primary motor neurons; therefore, the disease is an upper motor neuron disease. HSP is not a form of cerebral palsy even though it physically may appear and behave much the same as spastic diplegia. The origin of HSP is different from cerebral palsy. Despite this, some of the same anti-spasticity medications used in spastic cerebral palsy are sometimes used to treat HSP symptoms. HSP is caused by defects in transport of proteins, structural proteins, cell-maintaining proteins, lipids, and other substances through the cell. Long nerve fibers (axons) are affected because long distances make nerve cells particularly sensitive to defects in these mentioned mechanisms. The disease was first described in 1880 by the German neurologist Adolph Str¨¹mpell. It was described more extensively in 1888 by Maurice Lorrain, a French physician. Due to their contribution in describing the disease, it is still called Str¨¹mpell-Lorrain disease in French-speaking countries. The term hereditary spastic paraplegia was coined by Anita Harding in 1983.

Reference
Wiki: Spastic paraplegia



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD01506P108093329
HSPD1
60 kDa heat shock protein, mitochondrial
Homo sapiens
PTMD01644P4990222978
NT5C2
Cytosolic purine 5'-nucleotidase
Homo sapiens
PTMD01732Q12756547
KIF1A
Kinesin-like protein KIF1A
Homo sapiens
PTMD02250O001899179
AP4M1
AP-4 complex subunit mu-1
Homo sapiens
PTMD02294O004009197
SLC33A1
Acetyl-coenzyme A transporter 1
Homo sapiens
PTMD02489O150409895
TECPR2
Tectonin beta-propeller repeat-containing protein 2
Homo sapiens
PTMD02666O432999907
AP5Z1
AP-5 complex subunit zeta-1
Homo sapiens
PTMD03311O9490511160
ERLIN2
Erlin-2
Homo sapiens
PTMD04457P209164099
MAG
Myelin-associated glycoprotein
Homo sapiens
PTMD04839P320043897
L1CAM
Neural cell adhesion molecule L1
Homo sapiens
PTMD04966P360216567
SLC16A2
Monocarboxylate transporter 8
Homo sapiens
PTMD05062P412298242
KDM5C
Lysine-specific demethylase 5C demethylase 5C)
Homo sapiens
PTMD06091Q009732583
B4GALNT1
Beta-1,4 N-acetylgalactosaminyltransferase 1 -galactosylglucosylceramide)
Homo sapiens
PTMD06385Q128403798
KIF5A
Kinesin heavy chain isoform 5A
Homo sapiens
PTMD07744Q5T4F411881
ZFYVE27
Protrudin
Homo sapiens
PTMD08010Q68DK223503
ZFYVE26
Zinc finger FYVE domain-containing protein 26
Homo sapiens
PTMD08715Q7L5A879152
FA2H
Fatty acid 2-hydroxylase
Homo sapiens
PTMD08822Q7Z44911361
CYP2U1
Cytochrome P450 2U1
Homo sapiens
PTMD11391Q96JI780208
SPG11
Spatacsin
Homo sapiens
PTMD12965Q9H90265055
REEP1
Receptor expression-enhancing protein 1
Homo sapiens
PTMD13128Q9HCG757704
GBA2
Non-lysosomal glucosylceramidase
Homo sapiens
PTMD13781Q9NZJ426278
SACS
Sacsin
Homo sapiens
PTMD14011Q9UBP06683
SPAST
Spastin
Homo sapiens
PTMD14531Q9UPM823431
AP4E1
AP-4 complex subunit epsilon-1
Homo sapiens
PTMD14895Q9Y58711154
AP4S1
AP-4 complex subunit sigma-1
Homo sapiens