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Article: The non-syndromic clinical spectrums of mtDNA 3243A>G mutation.

Shen, Xiya / Du, Ailian

2021 Volume 26, Issue 2, Page(s) 128–133

Abstract: The m.3243A >G mutation in the tRNA Leu (UUR) gene (MT-TL1) of the mitochondrial DNA is the most widely seen pathogenic mtDNA mutation which has major phenotypic variations. The clinical phenotype involves various organs such as the brain and nerves, ... ...

Abstract	The m.3243A >G mutation in the tRNA Leu (UUR) gene (MT-TL1) of the mitochondrial DNA is the most widely seen pathogenic mtDNA mutation which has major phenotypic variations. The clinical phenotype involves various organs such as the brain and nerves, skeletal muscles, heart, endocrine system, gastrointestinal tract, and skin. Some phenotypes conform to well established syndromes, while most of the symptoms appear individually or concomitant to other syndromes, making identification difficult. Furthermore, some progress has been made on cardiac manifestations as well as complications during pregnancy and perinatal period. This article provides a systematic review of the non-syndromic phenotypes and latest developments in m.3243A>G mutation.
MeSH term(s)	DNA, Mitochondrial/genetics ; Humans ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/genetics ; Mutation ; Phenotype ; RNA, Transfer, Leu/genetics
Chemical Substances	DNA, Mitochondrial ; MT-TL1 tRNA, human ; RNA, Transfer, Leu
Language	English
Publishing date	2021-04-05
Publishing country	Saudi Arabia
Document type	Journal Article ; Review
ZDB-ID	2214806-1
ISSN	1319-6138
ISSN	1319-6138
DOI	10.17712/nsj.2021.2.20200145
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Article ; Online: Atypical and delayed spinal cord MRI features of COVID-19-associated myelopathies: a report of four cases and literature review.

Wang, Jie / Zhang, Huijun / Lin, Jingya / Yang, Lingli / Zhao, Lipeng / Du, Ailian

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

2024 Volume 45, Issue 5, Page(s) 1835–1843

Abstract: We reported four patients with coronavirus disease 2019 (COVID-19)-associated myelopathies, highlighting the delayed and atypical spinal cord magnetic resonance imaging (MRI) features and the literature review. All four patients were males, aged 37 to 72 ...

Abstract	We reported four patients with coronavirus disease 2019 (COVID-19)-associated myelopathies, highlighting the delayed and atypical spinal cord magnetic resonance imaging (MRI) features and the literature review. All four patients were males, aged 37 to 72 years old. The latencies from COVID-19 to the onset of myelitis were 5, 15, 30, and 80 days. The initial symptoms were numbness and weakness of lower limbs in three cases, and back pain with weakness of lower limbs in one case. The peak symptoms included paraplegia, sphincter dysfunction, sensory disturbance level, and spastic gait. The EDSS scores were 7.5, 9.0, 9.0, and 7.5, respectively. Magnetic resonance imaging (MRI) showed delayed atypical spinal cord lesions at onset, i.e., two cases without lesions, one with linear spinal meningeal enhancement, and one with punctate lesions on T2-weighted imaging (T2WI). During the follow-up period, punctate, linear, and cloudy lesions in the lateral and posterior funiculus were seen on T2WI in the peak stage. The prominent features of spinal cord lesions were linear spinal meningeal enhancement, the mismatch of deteriorated clinical symptoms, and inapparent MRI findings. All four patients were left with an obvious disability, with two patients completely bedridden and two who could stand with support. This report highlights the recognition of COVID-19-associated myelopathy even months after initial infection, especially in patients with delayed and atypical spinal cord findings on MRI.
MeSH term(s)	Male ; Humans ; Adult ; Middle Aged ; Aged ; Female ; COVID-19/complications ; COVID-19/pathology ; Spinal Cord Diseases/complications ; Spinal Cord Diseases/diagnostic imaging ; Spinal Cord/diagnostic imaging ; Spinal Cord/pathology ; Magnetic Resonance Imaging/methods ; Myelitis/diagnostic imaging ; Myelitis/etiology ; Myelitis/pathology
Language	English
Publishing date	2024-03-02
Publishing country	Italy
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2016546-8
ISSN	1590-3478 ; 1590-1874
ISSN (online)	1590-3478
ISSN	1590-1874
DOI	10.1007/s10072-024-07351-9
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Article ; Online: Two patients with congenital myasthenic syndrome caused by COLQ gene mutations and the consequent ColQ protein defect

Zhang, Qiting / Sha, Qianqian / Qiao, Kai / Liu, Xiaoli / Gong, Xiaohui / Du, Ailian

Heliyon. 2023 Feb., v. 9, no. 2 p.e13272-

2023

Abstract: To report two cases of congenital myasthenic syndromes (CMS) in a Chinese family with mutations in the COLQ gene and to prove the consequence defect of the ColQ protein. Clinical characteristics of the two children from the same family were described. ... ...

Abstract	To report two cases of congenital myasthenic syndromes (CMS) in a Chinese family with mutations in the COLQ gene and to prove the consequence defect of the ColQ protein. Clinical characteristics of the two children from the same family were described. Next-generation sequencing (NGS) and sanger sequencing was performed on the proband and family members. The consequence of the mutation was predicted by 3D protein structure prediction using I-TASSER. The wild type and mutant were transfected to 293T cells, and ColQ protein was detected by Western Blot. The diagnosis of CMS was based on a symptom combination of fatigable muscle weakness, ptosis, scoliosis, and hypotonia, aggravation of muscle weakness after the neostigmine test, and a 46% decrement in repetitive nerve stimulation. A muscle biopsy was performed on the proband, revealing mild variation in the myofiber size. NGS data revealed two compound heterozygous mutations at c.173delC (p.Pro58Hisfs*22) and c.C706T (p.R236X) in the COLQ gene, where the former was a novel mutation. A 3D structure prediction showed two truncated ColQ proteins with 78aa and 235aa, respectively. The truncated ColQ protein was proved in 293T cells transfected with c.173delC or c.C706T mutants by Western Blot. The mutations of c.173delC and c.C706T in the COLQ gene led to truncated ColQ protein and contributed to the pathogenesis of CMS in this Chinese family.
Keywords	Western blotting ; biopsy ; genes ; heterozygosity ; muscles ; mutants ; mutation ; neostigmine ; nerve tissue ; pathogenesis ; prediction ; protein structure ; scoliosis ; Congenital myasthenic syndrome (CMS) ; COLQ gene ; Next-generation sequencing (NGS) ; Truncated protein ; 3D structure prediction
Language	English
Dates of publication	2023-02
Publishing place	Elsevier Ltd
Document type	Article ; Online
Note	Use and reproduction
ZDB-ID	2835763-2
ISSN	2405-8440
ISSN	2405-8440
DOI	10.1016/j.heliyon.2023.e13272
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Article: Two patients with congenital myasthenic syndrome caused by

Zhang, Qiting / Sha, Qianqian / Qiao, Kai / Liu, Xiaoli / Gong, Xiaohui / Du, Ailian

Heliyon

2023 Volume 9, Issue 2, Page(s) e13272

Abstract: Objective: To report two cases of congenital myasthenic syndromes (CMS) in a Chinese family with mutations in the : Method: Clinical characteristics of the two children from the same family were described. Next-generation sequencing (NGS) and sanger ... ...

Abstract	Objective: To report two cases of congenital myasthenic syndromes (CMS) in a Chinese family with mutations in the Method: Clinical characteristics of the two children from the same family were described. Next-generation sequencing (NGS) and sanger sequencing was performed on the proband and family members. The consequence of the mutation was predicted by 3D protein structure prediction using I-TASSER. The wild type and mutant were transfected to 293T cells, and ColQ protein was detected by Western Blot. Results: The diagnosis of CMS was based on a symptom combination of fatigable muscle weakness, ptosis, scoliosis, and hypotonia, aggravation of muscle weakness after the neostigmine test, and a 46% decrement in repetitive nerve stimulation. A muscle biopsy was performed on the proband, revealing mild variation in the myofiber size. NGS data revealed two compound heterozygous mutations at c.173delC (p.Pro58Hisfs22) and c.C706T (p.R236X) in the Conclusions:* The mutations of c.173delC and c.C706T in the
Language	English
Publishing date	2023-01-26
Publishing country	England
Document type	Case Reports
ZDB-ID	2835763-2
ISSN	2405-8440
ISSN	2405-8440
DOI	10.1016/j.heliyon.2023.e13272
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Article ; Online: Response to "low heteroplasmy rates in clinically affected m.3243A > G carriers not necessarily explain the phenotype".

Shen, Xiya / Lv, Qing / Li, Yuanyuan / Du, Ailian

Journal of the neurological sciences

2019 Volume 409, Page(s) 116631

MeSH term(s)	Heterozygote ; Mitochondria ; Mutation ; Phenotype ; RNA, Transfer, Leu
Chemical Substances	RNA, Transfer, Leu
Language	English
Publishing date	2019-12-17
Publishing country	Netherlands
Document type	Letter ; Comment
ZDB-ID	80160-4
ISSN	1878-5883 ; 0022-510X ; 0374-8642
ISSN (online)	1878-5883
ISSN	0022-510X ; 0374-8642
DOI	10.1016/j.jns.2019.116631
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Article ; Online: Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants.

Chen, Chunyan / Gao, Jiong / Lv, Qing / Xu, Chen / Xia, Yu / Du, Ailian

BMC medical genomics

2021 Volume 14, Issue 1, Page(s) 242

Abstract: Background: Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions. Herein, we reported a Chinese patient carrying a new variant in the AHI1 gene with mild ...

Abstract	Background: Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions. Herein, we reported a Chinese patient carrying a new variant in the AHI1 gene with mild JS, and the 3D structure of the affected Jouberin protein was also predicted. Case presentation: The patient was a 31-year-old male, who presented difficulty at finding toys at the age of 2 years, night blindness from age of 5 years, intention tremor and walking imbalance from 29 years of age. Tubular visual field and retina pigmentation were observed on ophthalmology examinations, as well as molar tooth sign on brain magnetic resonance imaging (MRI). Whole exome sequence revealed two compound heterozygous variants at c.2105C>T (p.T702M) and c.1330A>T (p.I444F) in AHI1 gene. The latter one was a novel mutation. The 3D protein structure was predicted using I-TASSER and PyMOL, showing structural changes from functional β-sheet and α-helix to non-functional D-loop, respectively. Conclusions: Mild JS due to novel variants at T702M and I444F in the AHI1 gene was reported. The 3D-structural changes in Jouberin protein might underlie the pathogenesis of JS.
MeSH term(s)	Abnormalities, Multiple/diagnostic imaging ; Abnormalities, Multiple/genetics ; Adult ; Cerebellum/abnormalities ; Cerebellum/diagnostic imaging ; Eye Abnormalities/diagnostic imaging ; Eye Abnormalities/genetics ; Female ; Heterozygote ; Humans ; Kidney Diseases, Cystic/diagnostic imaging ; Kidney Diseases, Cystic/genetics ; Magnetic Resonance Imaging ; Male ; Molar/pathology ; Pedigree ; Retina/abnormalities ; Retina/diagnostic imaging ; Retinitis Pigmentosa/diagnostic imaging ; Retinitis Pigmentosa/genetics ; Whole Exome Sequencing
Language	English
Publishing date	2021-10-09
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2411865-5
ISSN	1755-8794 ; 1755-8794
ISSN (online)	1755-8794
ISSN	1755-8794
DOI	10.1186/s12920-021-01089-5
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Article ; Online: Association between high-resolution magnetic resonance vessel wall imaging characteristics and recurrent stroke in patients with intracranial atherosclerotic steno-occlusive disease: A prospective multicenter study.

Yuan, Weizhuang / Liu, Xiaoyun / Yan, Zhongrui / Wu, Bo / Lu, Baoquan / Chen, Beilei / Tian, Daishi / Du, Ailian / Li, Litao / Liu, Changyun / Liu, Guangzhi / Gong, Tao / Shi, Zhimin / Feng, Feng / Liu, Caiyan / Meng, Yao / Lin, Qianqian / Li, Mingli / Xu, Wei-Hai

International journal of stroke : official journal of the International Stroke Society

2024 , Page(s) 17474930241228203

Abstract: Background: High-resolution magnetic resonance vessel wall imaging (HRMR-VWI) is a promising technique for identifying intracranial vulnerable plaques beyond lumen narrowing. However, the association between HRMR-VWI characteristics and recurrent stroke ...

Abstract	Background: High-resolution magnetic resonance vessel wall imaging (HRMR-VWI) is a promising technique for identifying intracranial vulnerable plaques beyond lumen narrowing. However, the association between HRMR-VWI characteristics and recurrent stroke remains uncertain. Aims: This study aimed to investigate the association between HRMR-VWI characteristics and recurrent ipsilateral stroke in patients with symptomatic intracranial atherosclerotic steno-occlusive disease (ICAS). Methods: This multicenter, observational study recruited first-ever acute ischemic stroke patients attributed to ICAS (>50% stenosis or occlusion) within 7 days after onset. Participants were assessed by multiparametric magnetic resonance imaging (MRI) including diffusion-weighted imaging, three-dimension time-of-flight magnetic resonance angiography, and three-dimensional T1-weighted HRMR-VWI. The patients were recommended to receive best medical therapy and were systematically followed up for 12 months. The association between HRMR-VWI characteristics and the time to recurrent ipsilateral stroke was investigated by univariable and multivariable analysis. Results: Two hundred and fifty-five consecutive patients were enrolled from 15 centers. The cumulative 12 month ipsilateral recurrence incidence was 4.1% (95% confidence interval (CI): 1.6-6.6%). Patients with recurrent ipsilateral stroke exhibited higher rates of intraplaque hemorrhage (IPH) (30.0% vs 6.5%) and eccentric plaque (90.0% vs 48.2%), and lower occurrence of occlusive thrombus (10.0% vs 23.7%). Plaque length (5.69 ± 2.21 mm vs 6.67 ± 4.16 mm), plaque burden (78.40 ± 7.37% vs 78.22 ± 8.32%), degree of stenosis (60.25 ± 18.95% vs 67.50% ± 22.09%) and remodeling index (1.07 ± 0.27 vs 1.03 ± 0.35) on HRMR-VWI did not differ between patients with and without recurrent ipsilateral stroke. In the multivariable Cox regression analysis, IPH (hazard ratio: 6.64, 95% CI: 1.23-35.8, Data access statement: Data from this study are available and can be accessed upon request.
Language	English
Publishing date	2024-02-15
Publishing country	United States
Document type	Journal Article
ZDB-ID	2303728-3
ISSN	1747-4949 ; 1747-4930
ISSN (online)	1747-4949
ISSN	1747-4930
DOI	10.1177/17474930241228203
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Article ; Online: Heteroplasmy and phenotype spectrum of the mitochondrial tRNA

Liu, Gailing / Shen, Xiya / Sun, Yongan / Lv, Qing / Li, Yuanyuan / Du, Ailian

Journal of the neurological sciences

2019 Volume 408, Page(s) 116562

Abstract: The m.3243A > G mutation in the mitochondrial ... ...

Abstract	The m.3243A > G mutation in the mitochondrial tRNA
MeSH term(s)	Adolescent ; Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group/genetics ; Child ; Cohort Studies ; DNA, Mitochondrial/genetics ; Heteroplasmy/genetics ; Humans ; MELAS Syndrome/diagnosis ; MELAS Syndrome/genetics ; Middle Aged ; Pedigree ; Phenotype ; Point Mutation/genetics ; RNA, Transfer, Leu/genetics
Chemical Substances	DNA, Mitochondrial ; RNA, Transfer, Leu
Language	English
Publishing date	2019-11-06
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	80160-4
ISSN	1878-5883 ; 0022-510X ; 0374-8642
ISSN (online)	1878-5883
ISSN	0022-510X ; 0374-8642
DOI	10.1016/j.jns.2019.116562
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Article: Differences in treatment for Alzheimer's disease between urban and rural areas in China.

Li, Bei / Liu, Dejun / Wan, Qiaoqin / Sheng, Can / Wang, Xiting / Leng, Fangda / Peng, Qing / Wang, Ting / Du, Ailian / Zhu, Feiqi / Mima, Dunzhu / Wang, Huali / Xie, Hengge / Wang, Zhaoxia / Jin, Haiqiang / Sun, Yongan

Frontiers in neurology

2022 Volume 13, Page(s) 996093

Abstract: Introduction: In China, the increasing number of people with Alzheimer's disease (AD) poses a great challenge to families and the country. Economic and cultural differences cause a urban-rural gap in medical resources. This multicenter survey aimed to ... ...

Abstract	Introduction: In China, the increasing number of people with Alzheimer's disease (AD) poses a great challenge to families and the country. Economic and cultural differences cause a urban-rural gap in medical resources. This multicenter survey aimed to investigate the real-world practice of disease treatment among people with AD. Methods: People with AD and their caregivers from 30 provincial regions in mainland China were enrolled from October 2020 to December 2020 to be surveyed for their treatment experience. Logistic regression was used to explore the factors that influence medication adherence in all areas, urban areas, and rural areas. Results: In this survey, 1,427 participants came from urban areas, and 539 participants came from rural areas. Patients in urban areas were older (mean age 74 vs. 70, Conclusion: Although national progress has been made in the public awareness of disease treatment, adequate diagnosis and medication adherence need to be prompted, especially in rural areas. Furthermore, lifelong treatment should be improved based on regional characteristics through the joint efforts of the government, health workers, and social volunteers.
Language	English
Publishing date	2022-09-29
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2564214-5
ISSN	1664-2295
ISSN	1664-2295
DOI	10.3389/fneur.2022.996093
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Article: Factors Associated With Alzheimer's Disease Patients' Caregiving Status and Family Caregiving Burden in China.

Li, Yuxian / Leng, Fangda / Xiong, Qi / Zhou, Jiong / Du, Ailian / Zhu, Feiqi / Kou, Xiaowen / Sun, Wei / Chen, Luzeng / Wang, Huali / Xie, Hengge / Gao, Feng / Jin, Haiqiang / Sun, Yongan

Frontiers in aging neuroscience

2022 Volume 14, Page(s) 865933

Abstract: Background: The increasing prevalence of Alzheimer's disease (AD) has emerged as a major challenge worldwide. China as the most populous country in the globe is amid rapid aging of its population, highlighting the need for appropriate social and medical ...

Abstract	Background: The increasing prevalence of Alzheimer's disease (AD) has emerged as a major challenge worldwide. China as the most populous country in the globe is amid rapid aging of its population, highlighting the need for appropriate social and medical policies to meet the challenge. The current multicenter cross-sectional observational study aims to provide understanding of the current status of caring given to AD patients in China and investigate the factors that influence the family burden as well as the choice of care given to AD patients. Methods: A total of 1,675 patients with probable AD from 30 provincial regions of mainland China were enrolled in the current study from August 2019 to December 2019. We analyzed the caregiving status and its relationship with family burden and various socio-economical and medical factors. Results: In the current study, 90.87% of the AD patients enrolled adopted family care. The choice of caregiving method was influenced by factors including age (>80 years old, OR 0.648; 95% CI, 0.427-0.983), overall family burden (high, OR 0.574; 95% CI, 0.0.373-0.884), patients' income (OR 0.511; 95% CI, 0.330-0.789) and self-care ability (OR 0.329; 95% CI, 0.183-0.588). Conclusion: Family care is the primary method of care for AD patients in China and the institutional care system for AD patients is still underprepared in China.
Language	English
Publishing date	2022-03-16
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2558898-9
ISSN	1663-4365
ISSN	1663-4365
DOI	10.3389/fnagi.2022.865933
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