Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

Fink JK (2006) Hereditary spastic paraplegia. Curr Neurol Neurosci Rep 6:65–76, doi: 10.1007/s11910-996-0011-1

Depienne C, Stevanin G, Brice A, Durr A (2007) Hereditary spastic paraplegias: an update. Curr Opin Neurol 20:674–680

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 (2008) Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet 82:510–515, doi: 10.1016/j.ajhg.2007.10.001

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 (2008) Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet 82:992–1002, doi: 10.1016/j.ajhg.2008.03.004

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 (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93:973–983, doi: 10.1016/S0092-8674(00)81203-9

Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Bonsch D, Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder JM, Tartaglione A, Heinzlef O, Feki I, Deufel T, Parfrey N, Brice A, Fontaine B, Prud'homme JF, Weissenbach J, Durr A, Hazan J (2000) Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 9:637–644, doi: 10.1093/hmg/9.4.637

Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J (2004) Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat 23:98, doi: 10.1002/humu.9205

Beetz C, Schule R, Deconinck T, Tran-Viet KN, Zhu H, Kremer BP, Frints SG, van Zelst-Stams WA, Byrne P, Otto S, Nygren AO, Baets J, Smets K, Ceulemans B, Dan B, Nagan N, Kassubek J, Klimpe S, Klopstock T, Stolze H, Smeets HJ, Schrander-Stumpel CT, Hutchinson M, van de Warrenburg BP, Braastad C, Deufel T, Pericak-Vance M, Schols L, de Jonghe P, Zuchner S (2008) REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain 131:1078–1086, doi: 10.1093/brain/awn026

Hentati A, Pericak-Vance MA, Hung WY, Belal S, Laing N, Boustany RM, Hentati F, Ben Hamida M, Siddique T (1994) Linkage of ‘pure’ autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Mol Genet 3:1263–1267, doi: 10.1093/hmg/3.8.1263

Klebe S, Durr A, Bouslam N, Grid D, Paternotte C, Depienne C, Hanein S, Bouhouche A, Elleuch N, Azzedine H, Poea-Guyon S, Forlani S, Denis E, Charon C, Hazan J, Brice A, Stevanin G (2007) Spastic paraplegia 5: locus refinement, candidate gene analysis and clinical description. Am J Med Genet B Neuropsychiatr Genet 144B:854–861, doi: 10.1002/ajmg.b.30518

Coutinho P, Barros J, Zemmouri R, Guimaraes J, Alves C, Chorao R, Lourenco E, Ribeiro P, Loureiro JL, Santos JV, Hamri A, Paternotte C, Hazan J, Silva MC, Prud'homme JF, Grid D (1999) Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families. Arch Neurol 56:943–949, doi: 10.1001/archneur.56.8.943

Wilkinson PA, Crosby AH, Turner C, Patel H, Wood NW, Schapira AH, Warner TT (2003) A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia. Neurology 61:235–238

Muglia M, Criscuolo C, Magariello A, De Michele G, Scarano V, D'Adamo P, Ambrosio G, Gabriele AL, Patitucci A, Mazzei R, Conforti FL, Sprovieri T, Morgante L, Epifanio A, La Spina P, Valentino P, Gasparini P, Filla A, Quattrone A (2004) Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. Neurogenetics 5:49–54, doi: 10.1007/s10048-003-0167-7

Beetz C, Nygren AO, Schickel J, Auer-Grumbach M, Burk K, Heide G, Kassubek J, Klimpe S, Klopstock T, Kreuz F, Otto S, Schule R, Schols L, Sperfeld AD, Witte OW, Deufel T (2006) High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology 67:1926–1930, doi: 10.1212/01.wnl.0000244413.49258.f5

Schule R, Holland-Letz T, Klimpe S, Kassubek J, Klopstock T, Mall V, Otto S, Winner B, Schols L (2006) The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. Neurology 67:430–434, doi: 10.1212/01.wnl.0000228242.53336.90

Beetz C, Schule R, Klebe S, Klimpe S, Klopstock T, Lacour A, Otto S, Sperfeld AD, van de Warrenburg B, Schols L, Deufel T (2008) Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots. J Neurol Sci 268:131–135, doi: 10.1016/j.jns.2007.11.015

Elleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A (2006) Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology 66:654–659, doi: 10.1212/01.wnl.0000201185.91110.15

Arnoldi A, Tonelli A, Crippa F, Villani G, Pacelli C, Sironi M, Pozzoli U, D'Angelo MG, Meola G, Martinuzzi A, Crimella C, Redaelli F, Panzeri C, Renieri A, Comi GP, Turconi AC, Bresolin N, Bassi MT (2008) A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat 29:522–531, doi: 10.1002/humu.20682

Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, Feki I, Pasquier F, Belarbi S, Cruz VT, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale J, Coutinho P, Santorelli FM, Mhiri C, Brice A, Durr A (2008) Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 131:772–784, doi: 10.1093/brain/awm293

Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribai P, Feki I, Tallaksen C, Nguyen K, Stankoff B, Ruberg M, Stevanin G, Durr A, Brice A (2007) Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet 44:281–284, doi: 10.1136/jmg.2006.046425

Hanein S, Durr A, Ribai P, Forlani S, Leutenegger AL, Nelson I, Babron MC, Elleuch N, Depienne C, Charon C, Brice A, Stevanin G (2007) A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3. Hum Genet 122:261–273, doi: 10.1007/s00439-007-0396-1

Hewamadduma CA, Kirby J, Kershaw C, Martindale J, Dalton A, McDermott CJ, Shaw PJ (2008) HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier. Neurology 70:1717–1718, doi: 10.1212/01.wnl.0000311395.31081.70