Midline brain structures in adult Niemann-Pick type C disease: a cross-sectional study.

IF 3.8 4区 医学 Q1 Medicine Acta Neuropsychiatrica Pub Date : 2023-08-24 DOI:10.1017/neu.2023.43
Mark Walterfang, Tsutomu Takahashi, Maria A Di Biase, Vanessa L Cropley, Daiki Sasabayashi, Michio Suzuki, Dennis Velakoulis, Christos Pantelis
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Abstract

Objective: A range of neuropathological changes occur in the brains of individuals with adult Niemann-Pick type C disease (NPC), a recessive disorder of cholesterol trafficking that results in accumulation of cholesterol and gangliosides in lysosomes, particularly in neurons. One of the most significant regions of grey matter loss occurs in the thalami, which abut the midline. What is not known is whether these are neurodevelopmental in origin well prior to symptomatic onset. We aimed to examine other markers of midline developmental anomalies in adults with NPC.

Method: We examined the size of adhesio interthalamica (AI) and cavum septum pellucidum (CSP) (if present) in nine individuals diagnosed with NPC and nine healthy comparison subjects, matched for age and gender, using a 3T magnetic resonance volumetric sequence and measured the length of the AI and CSP in mm.

Results: We found that 5/9 NPC patients and 0/9 controls had a missing AI. AI length was significantly shorter in the patient group. No subject in other group had a large CSP, and CSP length did not differ. Duration of illness showed a trend to a negative correlation with AI length in patients.

Conclusions: Our findings suggest that adult NPC patients show some markers of early neurodevelopmental disturbance, matching findings seen in psychotic disorders. The differences in AI, but not CSP, suggest neurodevelopmental change may occur early in gestation rather than post-partum. The relationship with duration of illness suggests that there may be atrophy over time in these structures, consistent with prior analyses of grey matter regions in NPC.

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成人Niemann-Pick C型疾病的中线脑结构:一项横断面研究。
目的:成年尼曼-匹克C型病(NPC)患者的大脑发生一系列神经病理学变化,这是一种隐性的胆固醇运输障碍,导致胆固醇和神经节苷脂在溶酶体中积累,尤其是在神经元中。灰质损失最显著的区域之一发生在丘脑,它靠近中线。目前尚不清楚的是,这些症状是否早在症状出现之前就已经起源于神经发育。我们旨在检测成人NPC中线发育异常的其他标志物。方法:我们检测了9名诊断为NPC的个体和9名年龄和性别匹配的健康对照受试者的丘脑间粘连(AI)和透明隔腔(CSP)(如果存在)的大小,使用3T磁共振体积序列,测量AI和CSP的长度,单位为mm。结果:我们发现5/9名NPC患者和0/9名对照组的AI缺失。患者组的AI长度明显更短。另一组受试者均无大的CSP,CSP长度无差异。患者的病程与AI长度呈负相关。结论:我们的研究结果表明,成年NPC患者表现出一些早期神经发育障碍的标志物,与精神病患者的研究结果相匹配。AI(而非CSP)的差异表明,神经发育变化可能发生在妊娠早期,而不是产后。与疾病持续时间的关系表明,随着时间的推移,这些结构可能会萎缩,这与之前对NPC灰质区域的分析一致。
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来源期刊
Acta Neuropsychiatrica
Acta Neuropsychiatrica 医学-精神病学
CiteScore
8.50
自引率
5.30%
发文量
30
审稿时长
6-12 weeks
期刊介绍: Acta Neuropsychiatrica is an international journal focussing on translational neuropsychiatry. It publishes high-quality original research papers and reviews. The Journal''s scope specifically highlights the pathway from discovery to clinical applications, healthcare and global health that can be viewed broadly as the spectrum of work that marks the pathway from discovery to global health.
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