<原著>一次性外傷性動眼神経麻痺症例の検討

頭部外傷による一次性動眼神経麻痺症例13例について検討した. 発生頻度は, 過去8. 5年間に入院した頭部外傷症例1052例中13例(1. 2%)であった. 年齢は7歳から83歳(平均32歳)で, 男7例, 女6例であった. 受傷機転は全例交通外傷で, 受傷部位は前頭部8例, 後頭部3例, 側頭部1例で, 1例は不明であった. 入院時の意識レベルは, Glasgow Coma Scale で4点から14点(平均7点)であった. 頭蓋単純写で骨折が3例に認められた. CT では, くも膜下出血が4例, 脳室内出血が2例, 脳挫傷が5例に認められた. MRI は4例に施行され, 3例に脳挫傷が認められた. 予後は6カ月の観察期間で, 完全回復10例, 不完全回復2例, 不変1例であった. 今回検討した症例では, 前後方向の外力により, tentorial gap で動眼神経の損傷をきたした症例が多いと考えられた. 予後は比較的良好であった

Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development

もやもや病感受性遺伝子の特定とその機能についての発見. 京都大学プレスリリース. 2011-7-21.Background Moyamoya disease is an idiopathic vascular disorder of intracranial arteries. Its susceptibility locus has been mapped to 17q25.3 in Japanese families, but the susceptibility gene is unknown. Methodology/Principal Findings Genome-wide linkage analysis in eight three-generation families with moyamoya disease revealed linkage to 17q25.3 (P<10-4). Fine mapping demonstrated a 1.5-Mb disease locus bounded by D17S1806 and rs2280147. We conducted exome analysis of the eight index cases in these families, with results filtered through Ng criteria. There was a variant of p.N321S in PCMTD1 and p.R4810K in RNF213 in the 1.5-Mb locus of the eight index cases. The p.N321S variant in PCMTD1 could not be confirmed by the Sanger method. Sequencing RNF213 in 42 index cases confirmed p.R4810K and revealed it to be the only unregistered variant. Genotyping 39 SNPs around RNF213 revealed a founder haplotype transmitted in 42 families. Sequencing the 260-kb region covering the founder haplotype in one index case did not show any coding variants except p.R4810K. A case-control study demonstrated strong association of p.R4810K with moyamoya disease in East Asian populations (251 cases and 707 controls) with an odds ratio of 111.8 (P = 10−119). Sequencing of RNF213 in East Asian cases revealed additional novel variants: p.D4863N, p.E4950D, p.A5021V, p.D5160E, and p.E5176G. Among Caucasian cases, variants p.N3962D, p.D4013N, p.R4062Q and p.P4608S were identified. RNF213 encodes a 591-kDa cytosolic protein that possesses two functional domains: a Walker motif and a RING finger domain. These exhibit ATPase and ubiquitin ligase activities. Although the mutant alleles (p.R4810K or p.D4013N in the RING domain) did not affect transcription levels or ubiquitination activity, knockdown of RNF213 in zebrafish caused irregular wall formation in trunk arteries and abnormal sprouting vessels. Conclusions/Significance We provide evidence suggesting, for the first time, the involvement of RNF213 in genetic susceptibility to moyamoya disease

Effect of the Intrathecal Baclofen Screening Test on the Spatiotemporal Gait Motion Parameters of Patients with Cervical Spinal Cord Injuries Who Exhibited Diffuse Spasticity: A Report of Three Cases

We examine the quantitative changes in the gait motion of patients with cervical spinal cord injuries (CSCIs) before and after the intrathecal baclofen (ITB) screening test. The subjects were three patients with CSCI, who exhibited spasticity in the lower extremities. They could all walk 10 or more meters with/without aids. All patients were subjected to the ITB screening test, in which they had gabalon (50 μg) injected into their spinal column via paramedian puncture at the L3–4 level. The subjects had their ankle clonus; patellar tendon reflex; and modified Ashworth scale, Berg balance scale, Spinal Cord Independence Measure, and 10-meter walk test (10MWT) assessed before and 5 hours after the ITB screening test. At 5 hours after the ITB screening test, all of the patients exhibited decreased spasticity in static position, and improved balance. There were no differences in the abilities of any of the patients to perform ADL. One patient did not change the spatiotemporal gait motion parameters (walking time, step count, and step length in the 10MWT). Therefore, the pomp implantation for ITB therapy was not performed. Two patients who had suffered CSCI more than 20 years ago exhibited a reduced walking time, increased step count, and step length. Out of the two patients one received the pomp of implantation after ITB screening test, and the other was planned to operate. The spatiotemporal gait motion parameters might be one of the useful tests to decide the pomp implantation for CSCI patients who hope improvement of gait ability

THE PRESENCE OF MULTIPLE MICROBLEEDS AS A PREDICTOR OF SUBSEQUENT CEREBRAL HEMORRHAGE IN PATIENTS WITH MOYAMOYA DISEASE

Abstract OBJECTIVE To examine the relationship between asymptomatic microbleeds (MBs) and the occurrence of subsequent stroke in patients with moyamoya disease. METHODS Beginning in October 2003, 50 consecutive patients with moyamoya disease were enrolled in a prospective study using 3-T magnetic resonance imaging. These patients were followed from the date of the initial magnetic resonance study until the date of the first subsequent stroke or final magnetic resonance study. The median follow-up period was 15 months. The patients were comprised of 13 men and 37 women ranging in age from 9 to 68 years (mean age, 40.5 ± 16.2 yr). RESULTS Although no MBs were found in 27 patients in the initial magnetic resonance study, a total of 66 MBs were found in the remaining 23 patients. Eleven patients had a single MB and 12 had multiple MBs. The patients were divided into three groups according to the number of MBs: a non-MB group, a single-MB group, and a multi-MB group. Kaplan-Meier curves of the three groups showed a significantly higher likelihood of subsequent hemorrhage in the multi-MB group than in either the non-MB or single-MB groups (P = 0.0380). No significant differences among the three groups were seen in terms of their subsequent infarction-free ratios. Age-adjusted analysis performed with the Cox proportional hazard model also showed the presence of multiple MBs as an independent risk factor (hazard ratio, 2.89; 95% confidence interval, 1.001–13.24). CONCLUSION The presence of multiple MBs might be a predictor of subsequent hemorrhage in patients with moyamoya disease. Confirmation of these results will require a study with a larger number of patients and a longer follow-up period