Les paraparésies spastiques héréditaires

Bauer, 2009, Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization, Neurogenetics, 10, 43, 10.1007/s10048-008-0144-2 Beetz, 2008, REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31, Brain, 131, 1078, 10.1093/brain/awn026 Byrne, 2000, Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p, Neurology, 54, 1510, 10.1212/WNL.54.7.1510 Casari, 1998, Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease, Cell, 93, 973, 10.1016/S0092-8674(00)81203-9 Crosby, 2002, Is the transportation highway the right road for hereditary spastic paraplegia?, Am J Hum Genet, 71, 1009, 10.1086/344206 Denora, 2009, Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population, J Neurol Sci, 277, 22, 10.1016/j.jns.2008.09.039 Depienne, 2006, Gene symbol: SPAST. Disease: spastic paraparesis, Hum Genet, 118, 785 Depienne, 2006, Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases, J Med Genet, 43, 259, 10.1136/jmg.2005.035311 Elleuch, 2006, Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia, Neurology, 66, 654, 10.1212/01.wnl.0000201185.91110.15 Engert, 1999, Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11, Genomics, 62, 156, 10.1006/geno.1999.6003 Engert, 2000, ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF, Nat Genet, 24, 120, 10.1038/72769 Ferreirinha, 2004, Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport, J Clin Invest, 113, 231, 10.1172/JCI200420138 Fonknechten, 2000, Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia, Hum Mol Genet, 9, 637, 10.1093/hmg/9.4.637 Goizet, 2009, CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5, Brain, 132, 1589, 10.1093/brain/awp073 Goizet, 2009, SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum, Neurology, 73, 1111, 10.1212/WNL.0b013e3181bacf59 Hanein, 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, 10.1016/j.ajhg.2008.03.004 Hazan, 1993, Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q, Nat Genet, 5, 163, 10.1038/ng1093-163 Hazan, 1999, Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia, Nat Genet, 23, 296, 10.1038/15472 Martin, 2007, Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients, AJNR Am J Neuroradiol, 28, 1606, 10.3174/ajnr.A0603 Muriel, 2009, Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum, J Neurochem, 110, 1607, 10.1111/j.1471-4159.2009.06258.x Nolden, 2005, The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria, Cell, 123, 277, 10.1016/j.cell.2005.08.003 Orlén, 2009, SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration, Am J Med Genet B Neuropsychiatr Genet, 150B, 984, 10.1002/ajmg.b.30928 Sedel, 2007, Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach, J Inherit Metab Dis, 30, 855, 10.1007/s10545-007-0745-1 Simpson, 2003, Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia, Am J Hum Genet, 73, 1147, 10.1086/379522 Stevanin, 2007, Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum, Nat Genet, 39, 366, 10.1038/ng1980 Stevanin, 2007, A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21, Neurology, 68, 1837, 10.1212/01.wnl.0000262043.53386.22 Stevanin, 2008, SPATAX consortium. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration, Brain, 131, 772, 10.1093/brain/awm293 Svenson, 2004, Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations, Neurogenetics, 5, 157, 10.1007/s10048-004-0186-z Tallaksen, 2003, Subtle cognitive impairment but no dementia in patients with spastin mutations, Arch Neurol, 60, 1113, 10.1001/archneur.60.8.1113 Tessa, 2008, A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy, J Neurol, 255, 1090, 10.1007/s00415-008-0840-8 Tsaousidou, 2008, Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration, Am J Hum Genet, 82, 510, 10.1016/j.ajhg.2007.10.001 Webb, 1998, Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p, Brain, 121, 601, 10.1093/brain/121.4.601 Zhao, 2001, Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia, Nat Genet, 29, 326, 10.1038/ng758 Züchner, 2006, Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31, Am J Hum Genet, 79, 365, 10.1086/505361