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首页> 外文期刊>Journal of neurology >Retinal axonal degeneration in Niemann-Pick type C disease
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Retinal axonal degeneration in Niemann-Pick type C disease

机译：Niemann-pick型C病中的视网膜轴心变性

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Objective Niemann-Pick disease type C1 (NPC1) is a rare autosomal-recessive lysosomal storage disorder presenting with a broad clinical spectrum ranging from a severe infantile-onset neurovisceral disorder to late-onset neurodegenerative disease. Optical coherence tomography (OCT) is established to detect retinal degeneration in vivo. We examined NPC1-patients (NPC1-P), clinically asymptomatic NPC1-mutation carriers (NPC1-MC), and healthy controls (HC) to (1) identify retinal degeneration in NPC1-disease and (2) to investigate possible subclinical retinal degeneration in NPC1-MC. Methods Fourteen NPC1-P, 17 NPC1-MC, and 31 age-matched HC were examined using spectral-domain OCT. Neurological examinations, clinical scales [modified Disability Rating Scale (mDRS); Scale for the Rating and Assessment of Ataxia (SARA); Spinocerebellar Ataxia Functional Index (SCAFI)], and video-oculography (VOG) were correlated with OCT data. Results Macular retinal nerve fiber layer and volumes of combined ganglion cell and inner plexiform layer were significantly lower in NPC1-P compared to HC [mRNFL (mu m):0.13 +/- 0.01 vs. 0.14 +/- 0.02; p = 0.01; GCIPL (mm(3)):0.60 +/- 0.05 vs. 0.62 +/- 0.04; p = 0.04]. No significant differences were found in NPC1-MC in comparison to HC. In NPC1-P, the amplitude of upward vertical saccades showed positive associations with peripapillary RNFL (rho = 0.645; p < 0.05), and thinned GCIP (rho = 0.609; p < 0.05), but not in NPC1-MC. In NPC1-P correlations between combined outer plexiform layer and outer nuclear layer (OPONL) with mDRS (r = - 0.617; p < 0.05) and GCIP with SARA (r = - 0.622; p < 0.05) were observed. Furthermore, in NPC1-MC, motor scores were negatively associated with pRNFL (rho = - 0.677; p < 0.01). Conclusions Using OCT, we showed retinal degeneration in NPC1-P and significant correlation between retinal neuroaxonal degeneration with clinical measurements. We observed a non-significant trend of retinal degeneration in NPC1-MC correlating with subclinical motor abnormalities. Based on these preliminary data, OCT may be an important marker of neurodegeneration in NPC1-disease after onset of clinical symptoms.
机译：目的泻南切型疾病型C1（NPC1）是一种稀有的常染色体隐性溶酶体储存障碍，其具有广泛的临床光谱，从严重的婴儿发作神经内疾病到晚期神经翻入疾病。建立光学相干断层扫描（OCT）以检测体内视网膜变性。我们研究了NPC1患者（NPC1-P），临床无症状NPC1-突变载体（NPC1-MC）和健康对照（HC）至（1）鉴定NPC1-疾病的视网膜变性和（2）以研究可能的亚临床视网膜变性在NPC1-MC中。方法使用光谱域OCT检查17个NPC1-P，17 NPC1-MC和31次匹配的HC。神经检查，临床尺度[改性残疾额定尺度（MDRS）;为期评级和评估扩展（SARA）; Spinocerebellar Ataxia功能指数（SCAFI）]和视频 - 眼影（VOG）与OCT数据相关。结果与HC [MRNFL（MU M）：0.13 +/- 0.01对0.14 +/- 0.01，Mupc1-P组合神经神经纤维层和组合神经节细胞和内部络合物层的体积显着较低。 p = 0.01; Gcipl（mm（3））：0.60 +/- 0.05与0.62 +/- 0.04; p = 0.04]。与HC相比，NPC1-MC中没有发现显着差异。在NPC1-P中，向上垂直扫描的幅度显示出阳性关联与百毛皮RNFL（RHO = 0.645; P <0.05），稀释的GCIP（rhO = 0.609; P <0.05），但不是在NPC1-MC中。在组合的外部玻术层和外核层（OPON1）之间的NPC1-P相关性（r = - 0.617; p <0.05）和含有SARA的GCIP（r = - 0.622; p <0.05）。此外，在NPC1-MC中，与PRNFL负相关（RHO = - 0.677; P <0.01）负相关。结论使用OCT，我们在NPC1-P中显示了视网膜变性，以及视网膜神经Xoonal退化与临床测量的显着相关性。我们观察到与亚临床电机异常相关的NPC1-MC视网膜变性的非显着趋势。基于这些初步数据，10月可能是临床症状后NPC1-疾病中神经变性的重要标志物。

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