scholarly journals A case of hemichorea in RNF213-related vasculopathy

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Satoshi Hosoki ◽  
Takeshi Yoshimoto ◽  
Masafumi Ihara

Abstract Background Internal carotid artery (ICA) stenosis has been recently reported to cause hemichorea, mainly in East Asia. The East Asian-specific p.R4810K variant of RNF213, a susceptibility gene for moyamoya disease (MMD), accounts for up to 25% of sporadic ischemic stroke with ICA stenosis cases in East Asia. However, as RNF213-related vasculopathy does not meet the diagnostic criteria for MMD, the creation of a new disease category has been suggested. Here, we report the first case of hemichorea in RNF213-related vasculopathy. Case presentation An 81-year-old woman was admitted to our hospital with choreic movements in the periphery of the right extremities at rest. Though head magnetic resonance imaging showed no fresh or old cerebral infarction, 123I-iodoamphetamine-single photon emission computed tomography showed cerebral blood flow of < 80% in the anterior territory of the left middle cerebral artery (MCA) in a resting state and cerebrovascular reactivity of < 10% in the broader area supplied by the left MCA after acetazolamide challenge. Head magnetic resonance angiography and digital subtraction angiography revealed left ICA C1 portion stenosis with compromised collateral vessels. Involuntary movements resolved with haloperidol administration within 3 days, without apparent recurrence from continuation of the medication for a year. Genetic testing revealed the presence of the heterozygous RNF213 p.R4810K variant. Conclusions Chorea is thought to be caused by damage to circuitry connecting the basal ganglia with the cerebral cortex, as found in cases of MMD, which possess aberrant vessels in the basal ganglia. However, aberrant vessels and cerebral infarctions were not observed in the basal ganglia in the current case, decreasing the likelihood of a role in chorea. Alternatively, as RNF213 regulates vascular endothelial function and angiogenesis, dysregulation may impair the neurovascular unit and damage basal ganglia circuitry, contributing to the development of chorea. This case may renew interest in the concept of RNF213-related vasculopathy and the pathophysiological mechanisms behind chorea in ICA stenosis.

2018 ◽  
Vol 24 (22) ◽  
pp. 2515-2523 ◽  
Author(s):  
Tianbin Song ◽  
Xiaowei Han ◽  
Lei Du ◽  
Jing Che ◽  
Jing Liu ◽  
...  

Depression is a mental disorder with serious negative health outcomes. Its main clinical manifestations are depressed mood, slow thinking, loss of interest, and lack of energy. The rising incidence of depression has a major impact on patients and their families and imposes a substantial burden on society. With the rapid development of imaging technology in recent years, researchers have studied depression from different perspectives, including molecular, functional, and structural imaging. Many studies have revealed changes in structure, function, and metabolism in various brain regions in patients with depressive disorder. In this review, we summarize relevant studies of depression, including investigations using structural magnetic resonance imaging (MRI), functional MRI (task-state fMRI and resting-state fMRI), diffusion tensor imaging (DTI), magnetic resonance spectroscopy (MRS), brain network and molecular imaging (positron emission tomography [PET] and single photon emission computed tomography [SPECT]), which have contributed to our understanding of the etiology, neuropathology, and pathogenesis of depressive disorder.


1987 ◽  
Vol 7 (4) ◽  
pp. 507-509 ◽  
Author(s):  
Daniela Perani ◽  
Paolo Gerundini ◽  
Gian Luigi Lenzi

We studied a 79-year-old woman within 3 h of the onset of a motor aphasia and a right hemiparesis. Single photon emission computed tomography (SPECT) showed a 24% decrease in the perfusion of the left middle cerebral artery territory and a 16% reduction in the perfusion of the right cerebellum. A mild naming difficulty was the neurological deficit at the end of the SPECT examination, and complete recovery was achieved within 24 h. Repeated SPECT study 10 days later was normal. This is the first report of focal hemispheric and contralateral cerebellar hypoperfusion in transient cerebral ischemia.


2020 ◽  
Vol 3 ◽  
pp. 251581632090864
Author(s):  
Azusa Nagai ◽  
Daiki Tanaka ◽  
Kiyomi Kuroshima ◽  
Shigehisa Ura ◽  
Kazuto Yoshida ◽  
...  

The aim of this article is to provide neuroimaging data on cases with familial hemiplegic migraine (FHM). A 14-year-old male presented normal diffusion-weighted magnetic resonance imaging (DWI) and fluid-attenuated inversion recovery (FLAIR) findings during his first hemiplegic migraine attack. However, magnetic resonance angiography (MRA) showed diffuse narrowing of the right middle cerebral artery. Cerebral blood flow–single-photon emission computed tomography showed right hypoperfusion. A follow-up study showed no abnormal findings. His mother had normal DWI, FLAIR, and MRA findings during her migraine attack. Both patients were diagnosed with FHM2 (p.R763H mutation in ATP1A2). This study highlights the importance of neurovascular examinations during the FHM2 headache phase. Further cases are required to clarify the pathophysiology of migraine.


2016 ◽  
Vol 5 (12) ◽  
pp. 205846011668120
Author(s):  
Yasutaka Fushimi ◽  
Tomohisa Okada ◽  
Sachi Okuchi ◽  
Akira Yamamoto ◽  
Mitsunori Kanagaki ◽  
...  

Background The relationship between the signal from retrograde venous flow on magnetic resonance angiography (MRA) and retrograde upward flow from the left brachiocephalic vein has not been explored. Purpose To reveal the frequency of jugular venous reflux using MRA and nuclear venography in patients being evaluated for cerebral volume and blood flow. Material and Methods A total of 229 patients with cognitive disturbance who had undergone brain magnetic resonance imaging (MRI) and single-photon emission computed tomography (SPECT) on the same day to evaluate cerebral blood flow were evaluated. Jugular venous reflux was measured on MRA and nuclear venography, which was conducted just after injection of N-isopropyl-123I-p-iodoamphetamine for the SPECT study. Results MRA showed jugular reflux in seven patients on the right side, and in 22 on the left. Nuclear venography showed jugular reflux in six patients on the right side, and in 20 on the left. Conclusion Jugular venous reflux was observed mostly on the left side. Retrograde flow was observed on both MRA and nuclear venography in half of the cases, with the rest only on one of the modalities.


2018 ◽  
Vol 17 (05) ◽  
pp. 187-190
Author(s):  
Kenichiro Kobayashi ◽  
Minoru Suehiro ◽  
Toshiro Maihara ◽  
Ikuya Usami ◽  
Toshio Heike

AbstractThe progression of basal ganglia germ cell tumor (BGGCT) is slow and insidious, and the diagnosis is often delayed. We report here an 11-year-old boy with BGGCT associated with psychomotor deterioration and excessive salivation. Serial salivary gland scintigraphy and single photon emission computed tomography suggested that the dysregulation of basal ganglia to cortical circuitry accounts for the neurological comorbidity associated with BGGCT. We also found that topical scopolamine patches are safe and effective to suppress excessive salivation. Clinical Trial Registration: No.


2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Uliana Kostiv ◽  
Jan Kučka ◽  
Volodymyr Lobaz ◽  
Nikolay Kotov ◽  
Olga Janoušková ◽  
...  

Abstract“All-in-one” multifunctional nanomaterials, which can be visualized simultaneously by several imaging techniques, are required for the efficient diagnosis and treatment of many serious diseases. This report addresses the design and synthesis of upconversion magnetic NaGdF4:Yb3+/Er3+(Tm3+) nanoparticles by an oleic acid-stabilized high-temperature coprecipitation of lanthanide precursors in octadec-1-ene. The nanoparticles, which emit visible or UV light under near-infrared (NIR) irradiation, were modified by in-house synthesized PEG-neridronate to facilitate their dispersibility and colloidal stability in water and bioanalytically relevant phosphate buffered saline (PBS). The cytotoxicity of the nanoparticles was determined using HeLa cells and human fibroblasts (HF). Subsequently, the particles were modified by Bolton-Hunter-neridronate and radiolabeled by 125I to monitor their biodistribution in mice using single-photon emission computed tomography (SPECT). The upconversion and the paramagnetic properties of the NaGdF4:Yb3+/Er3+(Tm3+)@PEG nanoparticles were evaluated by photoluminescence, magnetic resonance (MR) relaxometry, and magnetic resonance imaging (MRI) with 1 T and 4.7 T preclinical scanners. MRI data were obtained on phantoms with different particle concentrations and during pilot long-time in vivo observations of a mouse model. The biological and physicochemical properties of the NaGdF4:Yb3+/Er3+(Tm3+)@PEG nanoparticles make them promising as a trimodal optical/MRI/SPECT bioimaging and theranostic nanoprobe for experimental medicine.


Sign in / Sign up

Export Citation Format

Share Document