KEGG   DISEASE: Hereditary spastic paraplegia
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
  Other nervous and sensory system 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
Related
pathway
hsa04144  Endocytosis
hsa04142  Lysosome
hsa00564  Glycerophospholipid metabolism
hsa00230  Purine metabolism
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) SPART [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) C19orf12 [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] [KO:K23881]
(SPG50) AP4M1 [HSA:9179] [KO:K12402]
(SPG51) AP4E1 [HSA:23431] [KO:K12400]
(SPG52) AP4S1 [HSA:11154] [KO:K12403]
(SPG53) VPS37A [HSA:137492] [KO:K12185]
(SPG54) DDHD2 [HSA:23259] [KO:K16545]
(SPG55) MTRFR [HSA:91574] [KO:K23498]
(SPG56) CYP2U1 [HSA:113612] [KO:K07422]
(SPG57) TFG [HSA:10342] [KO:K09292]
(SPG61) ARL6IP1 [HSA:23204] [KO:K24864]
(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]
(SPG80) UBAP1 [HSA:51271] [KO:K24629]
(SPG81) SELENOI [HSA:85465] [KO:K00993]
(SPG82) PCYT2 [HSA:5833] [KO:K00967]
(SPG83) HPDL [HSA:84842] [KO:K24788]
(SPG84) PI4KA [HSA:5297] [KO:K00888]
(SPG85) RNF170 [HSA:81790] [KO:K15707]
(SPG86) ABHD16A [HSA:7920] [KO:K25824]
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 618768 618770 619027 619621 619686 619735
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
PMID:7920659 (L1CAM)
  Authors
Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S
  Title
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
  Journal
Nat Genet 7:402-7 (1994)
DOI:10.1038/ng0794-402
Reference
PMID:8012387 (PLP1)
  Authors
Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O
  Title
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
  Journal
Nat Genet 6:257-62 (1994)
DOI:10.1038/ng0394-257
Reference
PMID:11685207 (ATL1)
  Authors
Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, Tukel T, Apak M, Heiman-Patterson T, Ming L, Bui M, Fink JK
  Title
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.
  Journal
Nat Genet 29:326-31 (2001)
DOI:10.1038/ng758
Reference
PMID:10610178 (SPAST)
  Authors
Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Durr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J
  Title
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
  Journal
Nat Genet 23:296-303 (1999)
DOI:10.1038/15472
Reference
PMID:18252231 (CYP7B1)
  Authors
Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH
  Title
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
  Journal
Am J Hum Genet 82:510-5 (2008)
DOI:10.1016/j.ajhg.2007.10.001
Reference
PMID:14508710 (NIPA1)
  Authors
Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK
  Title
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
  Journal
Am J Hum Genet 73:967-71 (2003)
DOI:10.1086/378817
Reference
PMID:9635427 (SPG7)
  Authors
Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Durr A, Fontaine B, Ballabio A
  Title
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
  Journal
Cell 93:973-83 (1998)
DOI:10.1016/s0092-8674(00)81203-9
Reference
PMID:17160902 (WASHC5)
  Authors
Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA
  Title
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
  Journal
Am J Hum Genet 80:152-61 (2007)
DOI:10.1086/510782
Reference
PMID:26026163 (ALDH18A1)
  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
PMID:12355402 (KIF5A)
  Authors
Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA, Rubinsztein DC, Marchuk DA
  Title
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).
  Journal
Am J Hum Genet 71:1189-94 (2002)
DOI:10.1086/344210
Reference
PMID:17322883 (SPG11)
  Authors
Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A
  Title
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
  Journal
Nat Genet 39:366-72 (2007)
DOI:10.1038/ng1980
Reference
PMID:22232211 (RTN2)
  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
PMID:11898127 (HSPD1)
  Authors
Hansen JJ, Durr A, Cournu-Rebeix I, Georgopoulos C, Ang D, Nielsen MN, Davoine CS, Brice A, Fontaine B, Gregersen N, Bross P
  Title
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.
  Journal
Am J Hum Genet 70:1328-32 (2002)
DOI:10.1086/339935
Reference
PMID:18394578 (ZFYVE26)
  Authors
Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G
  Title
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
  Journal
Am J Hum Genet 82:992-1002 (2008)
DOI:10.1016/j.ajhg.2008.03.004
Reference
PMID:14981520 (BSCL2)
  Authors
Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K
  Title
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
  Journal
Nat Genet 36:271-6 (2004)
DOI:10.1038/ng1313
Reference
PMID:23109145 (ERLIN2)
  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
PMID:12134148 (SPART)
  Authors
Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH
  Title
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.
  Journal
Nat Genet 31:347-8 (2002)
DOI:10.1038/ng937
Reference
PMID:14564668 (SPG21)
  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
PMID:28157540 (DSTYK)
  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
PMID:23746551 (B4GALNT1)
  Authors
Boukhris A, Schule R, Loureiro JL, Lourenco CM, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero-Oteyza A, Dionne-Laporte A, Amri M, Noreau A, Forlani S, Cruz VT, Mochel F, Coutinho P, Dion P, Mhiri C, Schols L, Pouget J, Darios F, Rouleau GA, Marques W Jr, Brice A, Durr A, Zuchner S, Stevanin G
  Title
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
  Journal
Am J Hum Genet 93:118-23 (2013)
DOI:10.1016/j.ajhg.2013.05.006
Reference
PMID:15786464 (DDHD1)
  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
Reference
PMID:21487076 (KIF1A)
  Authors
Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O
  Title
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
  Journal
Genome Res 21:658-64 (2011)
DOI:10.1101/gr.117143.110
Reference
PMID:16826527 (REEP1)
  Authors
Zuchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA
  Title
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
  Journal
Am J Hum Genet 79:365-9 (2006)
DOI:10.1086/505361
Reference
PMID:16826525 (ZFYVE27)
  Authors
Mannan AU, Krawen P, Sauter SM, Boehm J, Chronowska A, Paulus W, Neesen J, Engel W
  Title
ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia.
  Journal
Am J Hum Genet 79:351-7 (2006)
DOI:10.1086/504927
Reference
PMID:19068277 (FA2H)
  Authors
Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, Korman SH, Taustein I, Saada A, Elpeleg O
  Title
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.
  Journal
Am J Hum Genet 83:643-8 (2008)
DOI:10.1016/j.ajhg.2008.10.010
Reference
PMID:18313024 (PNPLA6)
  Authors
Rainier S, Bui M, Mark E, Thomas D, Tokarz D, Ming L, Delaney C, Richardson RJ, Albers JW, Matsunami N, Stevens J, Coon H, Leppert M, Fink JK
  Title
Neuropathy target esterase gene mutations cause motor neuron disease.
  Journal
Am J Hum Genet 82:780-5 (2008)
DOI:10.1016/j.ajhg.2007.12.018
Reference
PMID:19061983 (SLC33A1)
  Authors
Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y
  Title
A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).
  Journal
Am J Hum Genet 83:752-9 (2008)
DOI:10.1016/j.ajhg.2008.11.003
Reference
PMID:23857908 (C19orf12)
  Authors
Landoure G, Zhu PP, Lourenco CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangare M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Durr A, Stevanin G, Biesecker LG, Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Zuchner S, Blackstone C, Fischbeck KH, Burnett BG
  Title
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
  Journal
Hum Mutat 34:1357-60 (2013)
DOI:10.1002/humu.22378
Reference
PMID:19056803 (GJC2)
  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
PMID:24482476 (NT5C2 ARL6IP1 ERLIN1 AMPD2 ENTPD1)
  Authors
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG
  Title
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
  Journal
Science 343:506-511 (2014)
DOI:10.1126/science.1247363
Reference
PMID:23332916 (GBA2)
  Authors
Martin E, Schule R, Smets K, Rastetter A, Boukhris A, Loureiro JL, Gonzalez MA, Mundwiller E, Deconinck T, Wessner M, Jornea L, Oteyza AC, Durr A, Martin JJ, Schols L, Mhiri C, Lamari F, Zuchner S, De Jonghe P, Kabashi E, Brice A, Stevanin G
  Title
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
  Journal
Am J Hum Genet 92:238-44 (2013)
DOI:10.1016/j.ajhg.2012.11.021
Reference
PMID:21620353 (AP4B1 AP4E1 AP4S1)
  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
PMID:20613862 (AP5Z1)
  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
PMID:23176824 (TECPR2)
  Authors
Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D
  Title
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
  Journal
Am J Hum Genet 91:1065-72 (2012)
DOI:10.1016/j.ajhg.2012.09.015
Reference
PMID:19559397 (AP4M1)
  Authors
Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, de Graaff E, de Coo IF, Kros JM, Willemsen R, Willems PJ, van der Spek PJ, Mancini GM
  Title
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
  Journal
Am J Hum Genet 85:40-52 (2009)
DOI:10.1016/j.ajhg.2009.06.004
Reference
PMID:22717650 (VPS37A)
  Authors
Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC
  Title
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.
  Journal
J Med Genet 49:462-72 (2012)
DOI:10.1136/jmedgenet-2012-100742
Reference
PMID:23176823 (DDHD2)
  Authors
Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST, Nijhof B, van de Vondervoort II, van der Graaf M, Nobau AC, Otte-Holler I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J, Ali BR, Al-Yahyaee SA, Tariq S, Pramathan T, Bayoumi R, Kremer HP, van de Warrenburg BP, van den Akker WM, Gilissen C, Veltman JA, Janssen IM, Vulto-van Silfhout AT, van der Velde-Visser S, Lefeber DJ, Diekstra A, Erasmus CE, Willemsen MA, Vissers LE, Lammens M, van Bokhoven H, Brunner HG, Wevers RA, Schenck A, Al-Gazali L, de Vries BB, de Brouwer AP
  Title
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
  Journal
Am J Hum Genet 91:1073-81 (2012)
DOI:10.1016/j.ajhg.2012.10.017
Reference
PMID:23188110 (MTRFR)
  Authors
Shimazaki H, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, Hatakeyama H, Honda J, Sakoe K, Naoi T, Namekawa M, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Goto Y, Nakano I
  Title
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).
  Journal
J Med Genet 49:777-84 (2012)
DOI:10.1136/jmedgenet-2012-101212
Reference
PMID:23176821 (CYP2U1)
  Authors
Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G
  Title
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
  Journal
Am J Hum Genet 91:1051-64 (2012)
DOI:10.1016/j.ajhg.2012.11.001
Reference
PMID:23479643 (TFG)
  Authors
Beetz C, Johnson A, Schuh AL, Thakur S, Varga RE, Fothergill T, Hertel N, Bomba-Warczak E, Thiele H, Nurnberg G, Altmuller J, Saxena R, Chapman ER, Dent EW, Nurnberg P, Audhya A
  Title
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.
  Journal
Proc Natl Acad Sci U S A 110:5091-6 (2013)
DOI:10.1073/pnas.1217197110
Reference
PMID:24388663 (REEP2)
  Authors
Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Acosta Lebrigio RF, Gaussen M, Noreau A, Speziani F, Dionne-Laporte A, Deleuze JF, Dion P, Coutinho P, Rouleau GA, Zuchner S, Brice A, Stevanin G, Darios F
  Title
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
  Journal
Am J Hum Genet 94:268-77 (2014)
DOI:10.1016/j.ajhg.2013.12.005
Reference
PMID:25751282 (CPT1C)
  Authors
Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fado R, Harmison GH, Parodi S, Grunseich C, Renvoise B, Biesecker LG, De Michele G, Santorelli FM, Filla A, Stevanin G, Durr A, Brice A, Casals N, Traynor BJ, Blackstone C, Ulmer TS, Fischbeck KH
  Title
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
  Journal
JAMA Neurol 72:561-70 (2015)
DOI:10.1001/jamaneurol.2014.4769
Reference
PMID:25609768 (IBA57)
  Authors
Lossos A, Stumpfig C, Stevanin G, Gaussen M, Zimmerman BE, Mundwiller E, Asulin M, Chamma L, Sheffer R, Misk A, Dotan S, Gomori JM, Ponger P, Brice A, Lerer I, Meiner V, Lill R
  Title
Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
  Journal
Neurology 84:659-67 (2015)
DOI:10.1212/WNL.0000000000001270
Reference
PMID:26179919 (MAG)
  Authors
Lossos A, Elazar N, Lerer I, Schueler-Furman O, Fellig Y, Glick B, Zimmerman BE, Azulay H, Dotan S, Goldberg S, Gomori JM, Ponger P, Newman JP, Marreed H, Steck AJ, Schaeren-Wiemers N, Mor N, Harel M, Geiger T, Eshed-Eisenbach Y, Meiner V, Peles E
  Title
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
  Journal
Brain 138:2521-36 (2015)
DOI:10.1093/brain/awv204
Reference
PMID:27153400 (CAPN1)
  Authors
Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Veriepe J, Androschuk A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupre N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Ouled Amar Bencheikh B
  Title
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
  Journal
Am J Hum Genet 98:1038-1046 (2016)
DOI:10.1016/j.ajhg.2016.04.002
Reference
PMID:26553276 (FARS2)
  Authors
Yang Y, Liu W, Fang Z, Shi J, Che F, He C, Yao L, Wang E, Wu Y
  Title
A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.
  Journal
Hum Mutat 37:165-9 (2016)
DOI:10.1002/humu.22930
Reference
PMID:27217339 (ATP13A2)
  Authors
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H
  Title
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
  Journal
Brain 139:1904-18 (2016)
DOI:10.1093/brain/aww111
Reference
PMID:23359680 (UCHL1)
  Authors
Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M
  Title
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.
  Journal
Proc Natl Acad Sci U S A 110:3489-94 (2013)
DOI:10.1073/pnas.1222732110
Reference
PMID:30929741 (UBAP1)
  Authors
Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintans B, Ordonez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schule R, Zuchner S, Faghihi MA
  Title
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
  Journal
Am J Hum Genet 104:767-773 (2019)
DOI:10.1016/j.ajhg.2019.03.001
Reference
PMID:28052917 (SELENOI)
  Authors
Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, Al-Zuhaibi S, Al-Azri F, Al-Rashdi F, Cazenave-Gassiot A, Wenk MR, Al-Salmi F, Patton MA, Silver DL, Baple EL, McMaster CR, Crosby AH
  Title
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
  Journal
Brain 140:547-554 (2017)
DOI:10.1093/brain/aww318
Reference
PMID:31637422 (PCYT2)
  Authors
Vaz FM, McDermott JH, Alders M, Wortmann SB, Kolker S, Pras-Raves ML, Vervaart MAT, van Lenthe H, Luyf ACM, Elfrink HL, Metcalfe K, Cuvertino S, Clayton PE, Yarwood R, Lowe MP, Lovell S, Rogers RC, van Kampen AHC, Ruiter JPN, Wanders RJA, Ferdinandusse S, van Weeghel M, Engelen M, Banka S
  Title
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
  Journal
Brain 142:3382-3397 (2019)
DOI:10.1093/brain/awz291
Reference
PMID:32707086 (HPDL)
  Authors
Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostasy K, Radelfahr F, Bevot A, Dobler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Muller AJ, Laugwitz L, Nagele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hubner CA, Deschauer M, Mayr JA, Bonnen PE, Krageloh-Mann I, Wortmann SB, Haack TB
  Title
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
  Journal
Am J Hum Genet 107:364-373 (2020)
DOI:10.1016/j.ajhg.2020.06.015
Reference
PMID:34415322 (PI4KA)
  Authors
Verdura E, Rodriguez-Palmero A, Velez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacon A, Michaud V, Goizet C, Ruiz M, Schluter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marce-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, Gonzalez Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A
  Title
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
  Journal
Brain 144:2659-2669 (2021)
DOI:10.1093/brain/awab124
Reference
PMID:31636353 (RNF170)
  Authors
Wagner M, Osborn DPS, Gehweiler I, Nagel M, Ulmer U, Bakhtiari S, Amouri R, Boostani R, Hentati F, Hockley MM, Holbling B, Schwarzmayr T, Karimiani EG, Kernstock C, Maroofian R, Muller-Felber W, Ozkan E, Padilla-Lopez S, Reich S, Reichbauer J, Darvish H, Shahmohammadibeni N, Tafakhori A, Vill K, Zuchner S, Kruer MC, Winkelmann J, Jamshidi Y, Schule R
  Title
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
  Journal
Nat Commun 10:4790 (2019)
DOI:10.1038/s41467-019-12620-9
Reference
PMID:34489854 (ABHD16A)
  Authors
Yahia A, Elsayed LEO, Valter R, Hamed AAA, Mohammed IN, Elseed MA, Salih MA, Esteves T, Auger N, Abubaker R, Koko M, Abozar F, Malik H, Adil R, Emad S, Musallam MA, Idris R, Eltazi IZM, Babai A, Ahmed EAA, Abd Allah ASI, Mairey M, Ahmed AKMA, Elbashir MI, Brice A, Ibrahim ME, Ahmed AE, Lamari F, Stevanin G
  Title
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.
  Journal
Front Neurol 12:720201 (2021)
DOI:10.3389/fneur.2021.720201
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