White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1

Neuromuscular Disorders - Tập 19 Số 1 - Trang 62-65 - 2009
Carlo Minetti1, Marianna Ciccolella2, Andrea Rossi1, Alessandra Tessa2, Mark Roberts1, Filippo M. Santorelli2
1IRCCS G. Gaslini Pediatric Institute and University of Genoa, Units of Muscular and Neurodegenerative Diseases, Child Neurology and Psychiatry, and Neuroradiology, IRCCS Bambino Gesù Children’s Hospital, Piazza S. Onofrio 4, 00165 Rome, Italy
2Molecular Medicine and Neurology, IRCCS Bambino Gesù Children’s Hospital, Piazza S. Onofrio 4, 00165 Rome, Italy

Tóm tắt

Từ khóa


Tài liệu tham khảo

Tallaksen, 2001, Recent advances in hereditary spastic paraplegia, Curr Opin Neurol, 14, 457, 10.1097/00019052-200108000-00005

Depienne, 2007, Hereditary spastic paraplegias: an update, Curr Opin Neurol, 20, 674, 10.1097/WCO.0b013e3282f190ba

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

Klebe, 2007, Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description, Am J Med Genet B Neuropsychiatr Genet, 144, 854, 10.1002/ajmg.b.30518

Beetz, 2006, High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia, Neurology, 67, 1926, 10.1212/01.wnl.0000244413.49258.f5

Shafer, 1998, Stability and structure of model DNA triplexes and quadruplexes and their interactions with small ligands, Prog Nucleic Acid Res Mol Biol, 59, 55, 10.1016/S0079-6603(08)61029-6

Javitt, 1994, Bile acid synthesis from cholesterol: regulatory and auxiliary pathways, FASEB J, 8, 1308, 10.1096/fasebj.8.15.8001744

Federico, 2003, Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy, J Child Neurol, 18, 633, 10.1177/08830738030180091001

Barkhof, 2000, Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings, Radiology, 217, 869, 10.1148/radiology.217.3.r00dc03869

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

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