KEGG   DISEASE: Hereditary spastic paraplegiaHelp
Entry
H00266                      Disease                                

Name
Hereditary spastic paraplegia
  Subgroup
MASA syndrome [DS:H02178]
Description
Hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive distal limb weakness and lower extremity spasticity.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00266  Hereditary spastic paraplegia
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Spinal cord disorders excluding trauma
   8B44  Degenerative myelopathic disorders
    H00266  Hereditary spastic paraplegia
BRITE hierarchy
Pathway
hsa04144 Endocytosis   
hsa04142 Lysosome   
Gene
(SPG1) L1CAM [HSA:3897] [KO:K06550]
(SPG2) PLP1 [HSA:5354] [KO:K17271]
(SPG3) ATL1 [HSA:51062] [KO:K17339]
(SPG4) SPAST [HSA:6683] [KO:K13254]
(SPG5) CYP7B1 [HSA:9420] [KO:K07430]
(SPG6) NIPA1 [HSA:123606] [KO:K19364]
(SPG7) SPG7 [HSA:6687] [KO:K09552]
(SPG8) WSHC5 [HSA:9897] [KO:K18464]
(SPG9) ALDH18A1 [HSA:5832] [KO:K12657]
(SPG10) KIF5A [HSA:3798] [KO:K10396]
(SPG11) SPG11 [HSA:80208] [KO:K19026]
(SPG12) RTN2 [HSA:6253] [KO:K20722]
(SPG13) HSPD1 [HSA:3329] [KO:K04077]
(SPG15) ZFYVE26 [HSA:23503] [KO:K19027]
(SPG17) BSCL2 [HSA:26580] [KO:K19365]
(SPG18) ERLIN2 [HSA:11160] [KO:K23341]
(SPG20) SPG20 [HSA:23111] [KO:K19366]
(SPG21) SPG21 [HSA:51324] [KO:K19367]
(SPG23) DSTYK [HSA:25778] [KO:K16288]
(SPG26) B4GALNT1 [HSA:2583] [KO:K00725]
(SPG28) DDHD1 [HSA:80821] [KO:K13619]
(SPG30) KIF1A [HSA:547] [KO:K10392]
(SPG31) REEP1 [HSA:65055] [KO:K17338]
(SPG33) ZFYVE27 [HSA:118813] [KO:K19368]
(SPG35) FA2H [HSA:79152] [KO:K19703]
(SPG39) PNPLA6 [HSA:10908] [KO:K14676]
(SPG42) SLC33A1 [HSA:9197] [KO:K03372]
(SPG43) MPAN [HSA:83636] [KO:K23168]
(SPG44) GJC2 [HSA:57165] [KO:K07619]
(SPG45) NT5C2 [HSA:22978] [KO:K01081]
(SPG46) GBA2 [HSA:57704] [KO:K17108]
(SPG47) AP4B1 [HSA:10717] [KO:K12401]
(SPG48) AP5Z1 [HSA:9907] [KO:K19025]
(SPG49) TECPR2 [HSA:9895]
(SPG50) AP4M1 [HSA:23431] [KO:K12400]
(SPG51) AP4E1 [HSA:9179] [KO:K12402]
(SPG52) AP4S1 [HSA:11154] [KO:K12403]
(SPG53) VPS37A [HSA:137492] [KO:K12185]
(SPG54) DDHD2 [HSA:23259] [KO:K16545]
(SPG55) COXPD7 [HSA:91574] [KO:K23498]
(SPG56) CYP2U1 [HSA:113612] [KO:K07422]
(SPG57) TFG [HSA:10342] [KO:K09292]
(SPG61) ARL6IP1 [HSA:23204]
(SPG62) ERLIN1 [HSA:10613] [KO:K23341]
(SPG63) AMPD2 [HSA:271] [KO:K01490]
(SPG64) ENTPD1 [HSA:953] [KO:K01510]
(SPG72) REEP2 [HSA:51308] [KO:K17338]
(SPG73) CPT1C [HSA:126129] [KO:K19524]
(SPG74) IBA57 [HSA:200205] [KO:K22073]
(SPG75) MAG [HSA:4099] [KO:K06771]
(SPG76) CAPN1 [HSA:823] [KO:K01367]
(SPG77) FARS2 [HSA:10667] [KO:K01889]
(SPG78) ATP13A2 [HSA:23400] [KO:K13526]
(SPG79) UCHL1 [HSA:7345] [KO:K05611]
Other DBs
ICD-11: 8B44.0
ICD-10: G11.4
MeSH: D015419
OMIM: 303350 312920 182600 182601 270800 600363 607259 603563 601162 616586 604187 604360 604805 605280 270700 270685 611225 275900 248900 270750 609195 609340 610357 610250 610244 612319 612020 612539 615043 613206 613162 614409 614066 613647 615031 612936 613744 614067 614898 615033 615035 615030 615658 615685 615681 615686 615683 615625 616282 616451 616680 616907 617046 617225 615491
Reference
  Authors
Salinas S, Proukakis C, Crosby A, Warner TT
  Title
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.
  Journal
Lancet Neurol 7:1127-38 (2008)
DOI:10.1016/S1474-4422(08)70258-8
Reference
  Authors
Fink JK
  Title
Hereditary spastic paraplegia.
  Journal
Curr Neurol Neurosci Rep 6:65-76 (2006)
DOI:10.1007/s11910-996-0011-1
Reference
  Authors
Fink JK
  Title
Advances in the hereditary spastic paraplegias.
  Journal
Exp Neurol 184 Suppl 1:S106-10 (2003)
DOI:10.1016/j.expneurol.2003.08.005
Reference
  Authors
Orthmann-Murphy JL, Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviani M, Scherer SS, Pareyson D
  Title
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
  Journal
Brain 132:426-38 (2009)
DOI:10.1093/brain/awn328
Reference
  Authors
Slabicki M, Theis M, Krastev DB, Samsonov S, Mundwiller E, Junqueira M, Paszkowski-Rogacz M, Teyra J, Heninger AK, Poser I, Prieur F, Truchetto J, Confavreux C, Marelli C, Durr A, Camdessanche JP, Brice A, Shevchenko A, Pisabarro MT, Stevanin G, Buchholz F
  Title
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.
  Journal
PLoS Biol 8:e1000408 (2010)
DOI:10.1371/journal.pbio.1000408
Reference
  Authors
Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH
  Title
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.
  Journal
Am J Hum Genet 73:1147-56 (2003)
DOI:10.1086/379522
Reference
  Authors
Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nothen MM, Munnich A, Strom TM, Reis A, Colleaux L
  Title
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
  Journal
Am J Hum Genet 88:788-795 (2011)
DOI:10.1016/j.ajhg.2011.04.019
Reference
  Authors
Montenegro G, Rebelo AP, Connell J, Allison R, Babalini C, D'Aloia M, Montieri P, Schule R, Ishiura H, Price J, Strickland A, Gonzalez MA, Baumbach-Reardon L, Deconinck T, Huang J, Bernardi G, Vance JM, Rogers MT, Tsuji S, De Jonghe P, Pericak-Vance MA, Schols L, Orlacchio A, Reid E, Zuchner S
  Title
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
  Journal
J Clin Invest 122:538-44 (2012)
DOI:10.1172/JCI60560
Reference
  Authors
Al-Saif A, Bohlega S, Al-Mohanna F
  Title
Loss of ERLIN2 function leads to juvenile primary lateral sclerosis.
  Journal
Ann Neurol 72:510-6 (2012)
DOI:10.1002/ana.23641
Reference
  Authors
Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G
  Title
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
  Journal
Brain 138:2191-205 (2015)
DOI:10.1093/brain/awv143
Reference
  Authors
Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA
  Title
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
  Journal
Am J Hum Genet 100:364-370 (2017)
DOI:10.1016/j.ajhg.2017.01.014
Reference
  Authors
Bouslam N, Benomar A, Azzedine H, Bouhouche A, Namekawa M, Klebe S, Charon C, Durr A, Ruberg M, Brice A, Yahyaoui M, Stevanin G
  Title
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
  Journal
Ann Neurol 57:567-71 (2005)
DOI:10.1002/ana.20416
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