Moyamoya disease with epileptic nystagmus: A case report

Nakayama, Chie; Mikami, Takeshi; Ukai, Ryo; Chiba, Ryohei; Enatsu, Rei; Suzuki, Hime; Hirano, Tôru; Mikuni, Nobuhiro

doi:10.1016/j.jocn.2019.08.069

Cited by 3 publications

(2 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…By these means, RNF213 contributes to the clearance of two proteins involved in vascular remodeling via the Wnt signaling pathway [ 45 ]. Its striking role in vascular development is further supported by clinical studies revealing a particular RNF213 mutant (p.R4859K, caused by a SNP of c.14576G>A) to be strongly associated with Moyamoya disease (MMD)—an occlusive cerebrovascular disorder that is marked by progressive stenosis, a concomitant formation of collateral vessels, and transient seizures [ 46 , 47 ]. Intriguingly, ample evidence links angiogenesis to either MDD or its treatment.…”

Section: Discussionmentioning

confidence: 99%

Novel candidate genes for ECT response prediction—a pilot study analyzing the DNA methylome of depressed patients receiving electroconvulsive therapy

et al. 2020

View full text Add to dashboard Cite

Background Major depressive disorder (MDD) represents a serious global health concern. The urge for efficient MDD treatment strategies is presently hindered by the incomplete knowledge of its underlying pathomechanism. Despite recent progress (highlighting both genetics and the environment, and thus DNA methylation, to be relevant for its development), 30–50% of MDD patients still fail to reach remission with standard treatment approaches. Electroconvulsive therapy (ECT) is one of the most powerful options for the treatment of pharmacoresistant depression; nevertheless, ECT remission rates barely reach 50% in large-scale naturalistic population-based studies. To optimize MDD treatment strategies and enable personalized medicine in the long- term, prospective indicators of ECT response are thus in great need. Because recent target-driven analyses revealed DNA methylation baseline differences between ECT responder groups, we analyzed the DNA methylome of depressed ECT patients using next-generation sequencing. In this pilot study, we did not only aim to find novel targets for ECT response prediction but also to get a deeper insight into its possible mechanism of action. Results Longitudinal DNA methylation analysis of peripheral blood mononuclear cells isolated from a cohort of treatment-resistant MDD patients ( n = 12; time points: before and after 1st and last ECT, respectively) using a TruSeq-Methyl Capture EPIC Kit for library preparation, led to the following results: (1) The global DNA methylation differed neither between the four measured time points nor between ECT responders ( n = 8) and non-responders ( n = 4). (2) Analyzing the DNA methylation variance for every probe (=1476812 single CpG sites) revealed eight novel candidate genes to be implicated in ECT response (protein-coding genes: RNF175 , RNF213 , TBC1D14 , TMC5 , WSCD1 ; genes encoding for putative long non-coding RNA transcripts: AC018685.2 , AC098617.1 , CLCN3P1 ). (3) In addition, DNA methylation of two CpG sites (located within AQP10 and TRERF1 ) was found to change during the treatment course. Conclusions We suggest ten novel candidate genes to be implicated in either ECT response or its possible mechanism. Because of the small sample size of our pilot study, our findings must be regarded as preliminary.

show abstract

Section: Discussionmentioning

confidence: 99%

Novel candidate genes for ECT response prediction—a pilot study analyzing the DNA methylome of depressed patients receiving electroconvulsive therapy

et al. 2020

View full text Add to dashboard Cite

show abstract

“…Diverse ocular manifestations are sometimes consequences of ischemia or hemorrhage in MMD and may differ from the regions involved. A total of 10 cases from eight articles referring to ischemia-or hemorrhage-related ocular manifestations are summarized and reviewed, five of which are from case series ( Table 2) (31)(32)(33)(34)(35)(36)(37)(38). Most patients had a significant ischemia lesion in the cerebral imaging, and only one patient was diagnosed as having a hemorrhage.…”

Section: Ischemia-and Hemorrhage-related Visual Disturbancementioning

confidence: 99%

Moyamoya Disease Associated With Morning Glory Disc Anomaly and Other Ophthalmic Findings: A Mini-Review

et al. 2020

View full text Add to dashboard Cite

Moyamoya disease (MMD) is a chronic cerebrovascular disease that frequently results in intracranial ischemia or hemorrhage. Its concurrence with varying ophthalmic findings is relatively rare yet may lead to irreversible blindness. We performed a search and review of the literature to characterize the relevance of MMD (excluding moyamoya syndrome) and ophthalmic findings. As a result, a total of 38 articles identified from PubMed and Web of Science were included in this mini-review. Patients with MMD sometimes present with decreased visual acuity or visual field defects before the onset of symptomatic cerebrovascular dysfunction. The most predominant ophthalmic condition in MMD patients is the morning glory disc anomaly (MGDA). Deficiency during neuroectodermal genesis and subsequent mesodermal changes may be responsible for the association between these two diseases. Thus, it may be beneficial for patients with MGDA to receive cerebral vascular examinations as the precaution against life-threatening intracranial angiopathy. Other ophthalmic findings reported in cases of MMD include retinal vascular occlusion, optic disc pallor, cortical blindness, etc. For most of the patients with MMD, retinal examinations would be recommended to prevent potential loss of vision. It is essential for both neurologists and ophthalmologists to be aware of the correlation between cerebrovascular diseases such as MMD and ocular manifestations to achieve a comprehensive diagnosis.

show abstract

Analysis of macula structural changes in Moyamoya disease using AI-assisted OCT

Li,

Liu,

et al. 2024

Photodiagnosis and Photodynamic Therapy

View full text Add to dashboard Cite

Moyamoya disease with epileptic nystagmus: A case report

Cited by 3 publications

References 14 publications

Novel candidate genes for ECT response prediction—a pilot study analyzing the DNA methylome of depressed patients receiving electroconvulsive therapy

Novel candidate genes for ECT response prediction—a pilot study analyzing the DNA methylome of depressed patients receiving electroconvulsive therapy

Moyamoya Disease Associated With Morning Glory Disc Anomaly and Other Ophthalmic Findings: A Mini-Review

Analysis of macula structural changes in Moyamoya disease using AI-assisted OCT

Contact Info

Product

Resources

About