Citations for
1AHDS, SPART, SPG1, SPG10, SPG11, SPG12, SPG13, SPG14, SPG15, SPG16, SPG17, SPG19, SPG2, SPG21, SPG23, SPG24, SPG25, SPG26, SPG27, SPG28, SPG29, SPG30, SPG31, SPG32, SPG33, SPG35, SPG36, SPG37, SPG38, SPG39, SPG41, SPG41, SPG42, SPG43, SPG44, SPG45, SPG46, SPG47, SPG48, SPG49, SPG50, SPG51, SPG52, SPG53, SPG54, SPG55, SPG56
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
Fink JK.
Acta Neuropathol 126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. 2013
The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.
Bross P, Naundrup S, Hansen J, Nielsen MN, Christensen JH, Kruh¿ffer M, Palmfeldt J, Corydon TJ, Gregersen N, Ang D, Georgopoulos C, Nielsen KL.
J Biol Chem 283(23):15694-700. Epub 2008 Apr 8. 2008
3ATL1, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31, SPG33, SPG3A, SPG4, SPG41, SPG6, SPG8, SPG9
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
Zhao GH, Hu ZM, Shen L, Jiang H, Ren ZJ, Liu XM, Xia K, Guo P, Pan Q, Tang BS.
Chin Med J (Engl) 121(5):430-4. 2008
HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier.
Hewamadduma CA, Kirby J, Kershaw C, Martindale J, Dalton A, McDermott CJ, Shaw PJ.
Neurology 70(19):1717-8. No abstract available. PMID: 18458233 2008
Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13).
Hansen J, Corydon TJ, Palmfeldt J, Dürr A, Fontaine B, Nielsen MN, Christensen JH, Gregersen N, Bross P.
Neuroscience 153(2):474-82. Epub 2008 Feb 19.PMID: 18378094 2008
A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia.
Hansen J, Svenstrup K, Ang D, Nielsen MN, Christensen JH, Gregersen N, Nielsen JE, Georgopoulos C, Bross P.
J Neurol 254(7):897-900. Epub 2007 Apr 10. 2007
Hereditary spastic paraplegia: respiratory choke or unactivated substrate?
Claypool SM, Koehler CM.
Cell 123(2):183-5. 2005
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.
Hansen JJ, Durr A, Cournu-Rebeix I, Georgopoulos C, Ang D, Nielsen MN, Davoine CS, Brice A, Fontaine B, Gregersen N, Bross P.
Am J Hum Genet 70(5):1328-32. 2002
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.
Fontaine B, Davoine CS, Durr A, Paternotte C, Feki I, Weissenbach J, Hazan J, Brice A.
Am J Hum Genet 66(2):702-7. 2000