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世界核心医学期刊文摘（眼科学分册） 2005年第1期1卷 1-2页

作者：肖颖 Rufa A. De Stefano N dotti m.t A.Federico Neurol.and Neurom.tabol .Dis.Unit Dept.of Behav.and Neurol.Sciences University of Siena Medical SchoolViale Bracci 253100SienaItaly.Dr.

*** cerebral auto somal dominant arte-riopathy with subcortical infarcts and leukoencephalopathy(CADASIL)is considered a cerebrovascular dis order with almost exclusively neurological sy m.toms,the arteriopathy is generalized and involves choroid al and retinal vascula-ture as demonstrated by fluorescein angiographic and oc-ular electrophysiological abnorma *** occurrence of acute visual loss due to nonarteritic anterior ischemic optic neuropathy(NAION)has not previously been reported in ***:to describe acu te visual loss due to NAION as a possible manifestation of *** and m.thods:the patient was a 60-year-old man with subcortical diffuse leukoencephalopathy,multi-infarct de-mentia,tetraparesis,visual loss,and a family history of *** performed clinical and neuroophthalmological evaluation,electrophysiological assessment,brain mag-netic resonance imaging,and geneti c screening for m.ta-tions or small deletions of the Notch3gene,(causing CADASIL).Results:the patient ’s first sym.tom was a-cute visual loss in the right eye due t o NAION at age 27years,in absence of the common cardi ovascular risk fac-tors and before any neurological imp *** patient was reevaluated at age 60years,and n eu-ro-ophthalmological examination s howed optic disc atrophy in the right eye with arteriolar narrowing and a reduction in visual acuity in the left *** angiography ofthe right eye showed evidence of pers istent peripapillary hypofluorescence with a retinal pig ment epithelial windows defect in the inferior temporal *** reversal visual evoked potentials were abolished in the right *** P100latency of the left eye was delay ed and reduced in *** diagnosis of CADASIL was confirmed by molecular analysis(heterozygotes for the C406t m.tatio n on exon 3of the Notch3gene).there was a family history of cerebrovascular disorders and ocular ***-clusions:Visual loss due to transie nt or stab

关键词：脑白质病脑动脉常染色体视力丧失四肢轻瘫脑中风脑血管异常脑血管疾病动脉狭窄局部缺血

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维普期刊数据库

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凹陷蛋白-3基因的1种新错义突变导致波纹肌肉病

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世界核心医学期刊文摘(神经病学分册) 2006年第8期 30-30页

作者： dotti m.t. malandrini A. Gambelli S. 陈海 Department of Neurological and Behavioural Sciences University of Siena Policlinico Le Scotte Viale Bracci 2 53100 Siena Italy

m.tations of the Cav- 3 gene are associated with distinct, som.times overlapping muscle disease phenotypes. We report a new Italian family with autosomal dominant rippling muscle disease. Immunocytochemical analysis of muscle showed a deficit of caveolin- 3 protein and molecular genetic analysis showed a novel m.tation of the Cav- 3 gene.

关键词：基因肌病肌肉疾病

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CADASIL的周围神经病变

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世界核心医学期刊文摘(神经病学分册) 2006年第2期 33-33页

作者： Sicurelli F. dotti m.t. De Stefano N 袁海峰 Dept. of Neurological and Behavioural Sciences University of Siena Viale Bracci 2 53100 Siena Italy.Dr

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary cerebral microangiopathy associated with m.tations in the Notch 3 gene. the clinical phenotype is characterized by cerebral impairment even though typical microvascular changes are diffuse. Objective: to assess peripheral neuropathy in patients with CADASIL. Patients a nd m.thods: We enrolled eleven CADASIL patients with variable phenotype includin g clinical signs of peripheral nerve involvement. In all patients electromyograp hy and nerve conduction velocities were performed. Peripheral nerve biopsy was p erformed in three cases. Results: We found sensory m.tor neuropathy in 7/11 pati ents. Nerve biopsy revealed axonal and demyelinated findings. Conclusion: Our fi ndings suggest that peripheral neuropathy may be part of the CADASIL phenotype.

关键词： CADASIL 周围神经病变临床表型

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2例山德霍夫病同胞的自主神经功能障碍性失弛缓症

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世界核心医学期刊文摘（神经病学分册） 2006年第5期2卷 51-51页

作者： Pellegrini m. Zicari E. teresa dotti m. Federico A. 牛亚利(译) 不详 Department of Neurological and Behavioural Sciences Unit of Neurometabolic Diseases University of Siena Viale Bracci 2 1 -53100 Siena Italy

two siblings in their sixth decade with chronic type II Gm2 gangliosidosis developed progressive dysphagia in addition to chronic m.tor neuron disease and autonomic nervous system (ANS) involvement. Esophageal achalasia was diagnosed in both patients. It is suggested that this esophageal m.tor disorder may be a manifestation of the neurovegetative system disorder due to alteration of ganglioside m.tabolism.

关键词：食管失弛缓症自主神经功能 Gm2神经节苷脂沉积症同胞自主神经系统疾病障碍性运动神经元病食管运动异常吞咽困难代谢失常

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维普期刊数据库

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