李伟, 张在强. 单基因遗传性脑小血管病[J]. 中国卒中杂志, 2009, 4:400-407. Boiten J, Lodder J, Kessels F. Two clinically distinct lacunar infarct entities? A hypothesis[J]. Stroke, 1993, 24:652-656. O'Sullivan M, Lythgne DJ, Pereira AC, et al. Patterns of cerebral blood flow reduction in patients with ischemic leukoaraiesis[J]. Neurology, 2002, 59:321-326. Terborg C, Gora F, Weiller C, et al. Reduced vasomotor reactivity in cerebral microangiopathy:a study with near-infrared spectroscopy and transcranial Doppler sonography[J]. Stroke, 2000, 31:924-929. Arboix A, Marti-Vilaha JL. Lacunar stroke[J]. Expert Rev Neurother, 2009, 9:179-196. 李伟, 李桂林, 王拥军. 脑小血管病[J]. 中华内科杂志, 2010, 49:163-164. Vahedi K, Alamowitch S. Clinical spectrum of type IV collagen(COL4A1) mutations:a novel genetic multisystem disease[J]. Curr Opin Neurol, 2011, 24:63-68. de Vries LS, Mancini GM. Intracerebral hemorrhage and COL4A1 and COL4A2 mutations, from fetal life into adulthood[J]. Ann Neurol, 2012, 71:439-441. Lemmens R, Maugeri A, Niessen HW, et al. Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency[J]. Hum Mol Genet, 2013, 22:391-397. 彭寿雄, 周文炳. 临床青光眼[M]. 第2版. 北京:人民卫生出版社, 2000:310-314. Coupry I, Sibon I, Mortemousque B, et al. Ophthalmological features associated with COL4A1 mutations[J]. Arch Ophthalmol, 2010, 128:483-489. Plaisier E, Gribouval O, Alamowitch S, et al. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps[J]. N Engl J Med, 2007, 357:2687-2695. Uggetti C, La Piana R, Orcesi S, et al. Aicardi-Goutieres syndrome:neuroradiologic findings and follow-up[J]. AJNR Am J Neuroradiol, 2009, 30:1971-1976. Mateen FJ, Krecke K, Younge BR, et al. Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation[J]. Neurology, 2010, 75:1211-1213. Goh YP, Naidoo P, Ngian GS, et al. Imaging of systemic lupus erythematosus. Part I:CNS, cardiovascular, and thoracic manifestations[J]. Clin Radiol, 2013, 68:181-191. Rice G, Newman WG, Dean J, et al. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome[J]. Am J Hum Genet, 2007, 80:811-815. Haaxma CA, Crow YJ, van Steensel MA, et al. A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutieres syndrome[J]. Am J Med Genet, 2010, 152:2612-2617. Hara K, Shiga A, Fukutake T, et al. Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease[J]. N Engl J Med, 2009, 360:1729-1739. Hadfield KD, Rock CF, Inkson CA, et al. HTRA1 inhibits mineral deposition by osteoblasts:requirement for the protease and PDZ domains[J]. J Biol Chem, 2008, 283:5928-5938. Fukutake T. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy(CARASIL):from discovery to gene identification[J]. J Stroke Cerebrovasc Dis, 2011, 20:85-93. Mori K, Horie-Inoue K, Kohda M, et al. Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population[J]. J Hum Genet, 2007, 52:636-641. Joutel A, Monet M, Domenga V, et al. Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling pathway[J]. Am J Hum Genet, 2004, 74:338-347. Chabriat H, Joutel A, Dichgans M, et al. CADASIL[J]. Lancet Neurol, 2009, 8:643-653. Dziewulska D. Mysteries of CADASIL-the contribution of neuropathology to understanding of the disease[J]. Folia Neuropathol, 2009, 47:1-10. André C. CADASIL:pathogenesis, clinical and radiological findings and treatment[J]. Arq Neuropsiquiatr, 2010, 68:287-299. Chabriat H, Levy C, Taillia H. Patterns of MRI lesions in CADASIL[J]. Neurology, 1998, 51:452-457. Kusaba T, Hatta T, Kimura T, et al. Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL)[J]. Clin Nephrol, 2007, 67:182-187. Schroder JM, Zuchner S, Dichgans M, et al. Peripheral nerve and skeletal muscle involvement in CADASIL[J]. Acta Neuropathol, 2005, 110:587-599. Cumurciuc R, Henry P, Gobron C, et al. Electrocardiogram in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patients without any clinical evidence of coronary artery disease:a case-control study[J]. Stroke, 2006, 37:1100-1102. Haritoglou C, Rudolph G, Hoops JP, et al. Retinal vascular abnormalities in CADASIL[J]. Neurology, 2004, 62:1202-1205. Phillips JS, King JA, Chandran S, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL) presenting with sudden sensorineural hearing loss[J]. J Laryngol Otol, 2005, 119:148-151. Saiki S, Sakai K, Saiki M, et al. Varicose veins associated with CADASIL result from a novel mutation in the Notch3 gene[J]. Neurology, 2006, 67:337-339. Germain DP. Fabry disease[J]. Orphanet J Rare Dis, 2010, 5:30 Testai FD, Gorelick PB. Inherited metabolic disorders and stroke part 1:Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes[J]. Arch Neurol, 2010, 67:19-24. Zarate YA, Hopkin RJ. Fabry's disease[J]. Lancet, 2008, 372:1427-1435. Burlina AP, Sims KB, Politei JM, et al. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain:the report of an expert panel[J]. BMC Neurol, 2011, 11:61. 鲁明, 樊东升. Fabry病与卒中[J]. 中国卒中杂志, 2012, 7:115-119. |