Articles

Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a riboflavin-responsive lipid-storage myopathy caused by mutations in the EFTA, EFTB or ETFDH genes. We report a Chinese family of Southern Min origin with ...

Authors: Wei Chen, Youqiao Zhang, Yifeng Ni, Shaoyu Cai, Xin Zheng, Frank L. Mastaglia and Jingshan Wu

Free thyroxine level is associated with both relapse rate and poor neurofunction in first-attack Neuromyelitis Optica Spectrum Disorder (NMOSD) patients

To investigate whether the serum free thyroxine (FT4) level is a prognostic factor for the first-attack neuromyelitis optica spectrum disorders (NMOSD).

Authors: Qianyi He, Lifeng Li, Yanfei Li, Yanhui Lu, Kaimin Wu, Ruiyi Zhang, Junfang Teng, Jie Zhao and Yanjie Jia

Clinical, neuroimaging, and nerve conduction characteristics of spontaneous Conus Medullaris infarction

Spontaneous conus medullaris infarction is a rare disease. We describe two patients with spontaneous conus medullaris infarction presenting as acute cauda equina syndrome and their unique electromyography (EMG...

Authors: Yi-Ching Weng, Shy-Chyi Chin, Yah-Yuan Wu and Hung-Chou Kuo

Retraction Note: Risk factors, clinical presentations and predictors of stroke among adult patients admitted to stroke unit of Jimma university medical center, south west Ethiopia: prospective observational study

The Editor and Publisher have retracted this article [1]. This article was published as the result of a technical error which resulted in two versions [1, 2] of the same article being published. [2] is the fin...

Authors: Ginenus Fekadu, Legese Chelkeba and Ayantu Kebede

The effects of repetitive transcranial magnetic stimulation in older adults with mild cognitive impairment: a protocol for a randomized, controlled three-arm trial

Mild Cognitive Impairment (MCI) carries a high risk of progression to Alzheimer’s disease (AD) dementia. Previous clinical trials testing whether cholinesterase inhibitors can slow the rate of progression from...

Authors: Joy L. Taylor, Benjamin C. Hambro, Nicole D. Strossman, Priyanka Bhatt, Beatriz Hernandez, J. Wesson Ashford, Jauhtai Joseph Cheng, Michael Iv, Maheen M. Adamson, Laura C. Lazzeroni and Margaret Windy McNerney

Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report

The X-linked form of Charcot-Marie-Tooth disease type 1 (CMTX1) is an inherited peripheral neuropathy that arises in patients with mutations in the gap-junction beta-1 gene (GJB1).

Authors: Youlong Liang, Jingli Liu, Daobin Cheng, Yu Wu, Liuhong Mo and Wen Huang

Recent transition of medical cost and relapse rate of multiple sclerosis in Japan based on analysis of a health insurance claims database

In this study, we aimed to understand the trends in total and itemized medical expenses, especially of disease-modifying therapy (DMT), for multiple sclerosis (MS) in Japan through an analysis of health insura...

Authors: Izumi Kawachi, Shuichi Okamoto, Mariko Sakamoto, Hiroyuki Ohta, Yusuke Nakamura, Kosuke Iwasaki, Manami Yoshida, Shinzo Hiroi and Mieko Ogino

An investigation of oxidant/antioxidant balance in patients with migraine: a case-control study

In recent years, the role of neuroinflammation and oxidative stress in migraine pathogenesis has achieved considerable interest; however, to date findings are equivocal. Thus, the objective of this study was t...

Authors: Mansoureh Togha, Soodeh Razeghi Jahromi, Zeinab Ghorbani, Amir Ghaemi and Pegah Rafiee

Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia

Hereditary spastic paraplegia is a large group of degenerative, neurological disorders characterized by progressive lower limb spasticity and weakness. The disease was investigated precisely but still clinicia...

Authors: Aleksandra Klimkowicz-Mrowiec, Anna Dziubek, Malgorzata Sado, Marek Karpiński and Agnieszka Gorzkowska

Spinal cord infarction presenting as Brown-Séquard syndrome from spontaneous vertebral artery dissection: a case report and literature review

Spinal cord infarction (SCI) is rarely caused by vertebral artery dissection (VAD), which is an important cause of posterior circulation stroke in young and middle-aged patients. We report the case of a middle...

Authors: Yang-Yang Meng, Le Dou, Chun-Mei Wang, De-Zheng Kong, Ying Wei, Li-Shan Wu, Yi Yang and Hong-Wei Zhou

Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis

X-linked agammaglobulinaemia (XLA) is a rare inherited primary immunodeficiency disease characterized by the B cell developmental defect, caused by mutations in the gene coding for Bruton’s tyrosine kinase (BT...

Authors: Ya-Ni Zhang, Yuan-Yuan Gao, Si-Da Yang, Bin-Bin Cao, Ke-Lu Zheng, Ping Wei, Lian-Feng Chen and Wen-Xiong Chen

Long-term deep-TMS does not negatively affect cognitive functions in stroke and spinal cord injury patients with central neuropathic pain

Authors: Priscila Mara Lorencini Selingardi, Antonia Lilian de Lima Rodrigues, Valquíria Aparecida da Silva, Diego Toledo Reis Mendes Fernandes, Jefferson Rosí Jr, Marco Antônio Marcolin, Lin T. Yeng, André R. Brunoni, Manoel J. Teixeira, Ricardo Galhardoni and Daniel Ciampi de Andrade

Epidemiology and health care utilization of patients suffering from Huntington’s disease in Germany: real world evidence based on German claims data

Huntington’s disease (HD) is a rare, genetic, neurodegenerative and ultimately fatal disease with no cure or progression-delaying treatment currently available. HD is characterized by a triad of cognitive, beh...

Authors: Christoph Ohlmeier, Kai-Uwe Saum, Wolfgang Galetzka, Dominik Beier and Holger Gothe

Malnutrition is common in children with cerebral palsy in Saudi Arabia – a cross-sectional clinical observational study

Cerebral palsy (CP) is considered as the main cause of severe physical impairment and malnutrition in children. This cross-sectional study intended to survey the nutritional status of children cerebral palsy i...

Authors: Abdul Rahman Almuneef, Ali Almajwal, Iftikhar Alam, Mahmoud Abulmeaty, Bader Al Bader, Mohamed Farouq Badr, May Almuammar and Suhail Razak

Autoregressive modeling to assess stride time pattern stability in individuals with Huntington’s disease

Huntington’s disease (HD) is a progressive, neurological disorder that results in both cognitive and physical impairments. These impairments affect an individual’s gait and, as the disease progresses, it signi...

Authors: Helia Mahzoun Alzakerin, Yannis Halkiadakis and Kristin D. Morgan

Endovascular treatment for acute basilar artery occlusion: a single center retrospective observational study

Endovascular treatment (EVT) is now considered the gold standard for select patient populations with anterior circulation stroke; however, data on the treatment of posterior circulation stroke are less clear. ...

Authors: Xuan Sun, Xu Tong, Feng Gao, Huiting Lao and Zhongrong Miao

Influence of combined functional resistance and endurance exercise over 12 weeks on matrix metalloproteinase-2 serum concentration in persons with relapsing-remitting multiple sclerosis – a community-based randomized controlled trial

The relevance of regular moderate to intense exercise for ameliorating psychomotor symptoms in persons with multiple sclerosis (pwMS) is becoming increasingly evident. Over the last two decades, emerging evide...

Authors: Sebastian Proschinger, Niklas Joisten, Annette Rademacher, Marit L. Schlagheck, David Walzik, Alan J. Metcalfe, Max Oberste, Clemens Warnke, Wilhelm Bloch, Alexander Schenk, Jens Bansi and Philipp Zimmer

Eosinophils and other peripheral blood biomarkers in glioma grading: a preliminary study

Many peripheral blood biomarkers are associated with glioma grade, but eosinophils (Eo) are scarcely reported. This study assessed preoperative peripheral eosinophil levels and other peripheral biomarkers pres...

Authors: Zhenxing Huang, Liang Wu, Zonggang Hou, Pengfei Zhang, Gen Li and Jian Xie

Contributing factors to quality of life after vertebral artery dissection: a prospective comparative study

Vertebral artery dissection (VAD) may cause cerebral ischemia and impair quality of life (QOL) despite of good functional outcome. The aim of this study was the multimodal analysis of patient characteristics a...

Authors: Rainer J. Strege, Reinhard Kiefer and Manfred Herrmann

Different imaging patterns of PCNSL and IVL: a case report

Primary central nervous system lymphoma (PCNSL) is a rare, malignant, non-Hodgkin’s lymphoma of the brain, leptomeninges, and rarely the spinal cord. PCNSL has characteristic magnetic resonance imaging (MRI) f...

Authors: Seung-Ho Jeon, Mi-Kyoung Kang, Seung Jae Lee, Byoung-Soo Shin and Hyun Goo Kang

Detecting delirium in patients with acute stroke: a systematic review of test accuracy

Patients with acute stroke are particularly vulnerable to delirium episodes. Although delirium detection is important, no evidence-based recommendations have been established to date on how these patients shou...

Authors: Irene Mansutti, Luisa Saiani and Alvisa Palese

Attention/memory complaint is correlated with motor speech disorder in Parkinson’s disease

The mechanisms underlying the online modulation of motor speech in Parkinson’s disease (PD) have not been determined. Moreover, medical and rehabilitation interventions for PD-associated motor speech disorder ...

Authors: Ying Liu, Yuchang Gui, Jincui Hu, Shanshan Liang, Sixia Mo, Yuanfang Zhou, Yujian Li, Fengkun Zhou and Jianwen Xu

Great auricular nerve schwannoma in neck region: a case report with the risk of medical disputes

Great auricular nerve schwannoma is extremely rare. Herein, we reported the first case of schwannoma arising from great auricular nerve trunk.

Authors: Chunling Xu and Qingjia Sun

One- to 10-year Status Epilepticus Mortality (SEM) score after 30 days of hospital discharge: development and validation using competing risks analysis

Status epilepticus (SE) is an emergency neurological disorder that affects quality of life and is associated with high mortality risk. Three scores have been developed to predict the risk of in-hospital death, bu...

Authors: Prapassara Sirikarn, Porjai Pattanittum and Somsak Tiamkao

A mixed methodology, non-interventional study to evaluate the use of direct oral anticoagulants in UK clinical practice for patients with a first stroke associated with non-valvular atrial fibrillation: study protocol

Treatment with anticoagulants, including direct oral anticoagulants (DOACs), should be considered for patients diagnosed with atrial fibrillation (AF) deemed at risk of ischaemic stroke. There are limited real...

Authors: Yaqoob Bhat, Anand Dixit, Amit Mistri, Bhavini Patel, Sadat Haider Quoraishi and James Uprichard

Exercise and Progressive Supranuclear Palsy: the need for explicit exercise reporting

Progressive Supranuclear Palsy (PSP) is the most frequent form of atypical Parkinsonism. Although there is preliminary evidence for the benefits of gait rehabilitation, balance training and oculomotor exercise...

Authors: Susan C. Slade, Martin Underwood, Jennifer L. McGinley and Meg E. Morris

A paraneoplastic limbic encephalitis from an anorectal small cell neuroendocrine carcinoma: a case report

Paraneoplastic limbic encephalitis (PLE) is a rare autoimmune neurological syndrome observed in cancer patients. PLE is difficult to diagnose and presents a variable response to treatment, depending on the cha...

Authors: Raffaele Longo, Marc Wagner, Benjamin Savenkoff, Mathilde Chastenet de Castaing, Guillaume Desiro, Zead Tubail, Laurent Hennequin, Sinan Ben Mahmoud, Nathalie Marcon, Philippe Quetin, Marco Campitiello and Francesca Plastino

A case report: Numb Chin Syndrome due to thalamic infarction: a rare case

Numb Chin Syndrome (NCS), which is also characterized as sensory neuropathy of the mental nerve, describes a mostly unilateral numbness of the chin and lower lip. Benign and malignant diseases are known to cau...

Authors: Florian Rimmele, Henning Maschke, Annette Großmann and Tim P. Jürgens

Automatic labeling of the fanning and curving shape of Meyer’s loop for epilepsy surgery: an atlas extracted from high-definition fiber tractography

Visual field defects caused by injury to Meyer’s loop (ML) are common in patients undergoing anterior temporal lobectomy during epilepsy surgery. Evaluation of the anatomical shapes of the curving, fanning and...

Authors: Yong-Zhi Shan, Zhen-Ming Wang, Xiao-Tong Fan, Hua-Qiang Zhang, Lian-Kun Ren, Peng-Hu Wei and Guo-Guang Zhao

A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs

McLeod syndrome is a rare X-linked recessive acanthocytosis associated with neurological manifestations including progressive chorea, cognitive impairment, psychiatric disturbances, seizures, and sensorimotor ...

Authors: Takenobu Murakami, Dan Abe, Hideyuki Matsumoto, Ryo Tokimura, Mitsunari Abe, Amanda Tiksnadi, Shunsuke Kobayashi, Chikako Kaneko, Yuka Urata, Masayuki Nakamura, Akira Sano and Yoshikazu Ugawa

Three easily-implementable changes reduce median door-to-needle time for intravenous thrombolysis by 23 minutes

The benefit of intravenous thrombolysis (IVT) for acute ischemic stroke is time dependent. Despite great effort, the median door-to-needle time (DNT) was 60 min at the United States stroke centers. We investig...

Authors: Demi Tran, Zhu Zhu, Mohammad Shafie, Hermelinda Abcede, Dana Stradling and Wengui Yu

Logopenic progressive aphasia with neologisms: a case report

Neologisms are commonly encountered in patients with acute cerebrovascular diseases, particularly in those with Wernicke’s aphasia. However, few studies have investigated primary progressive aphasia with neolo...

Authors: Hiroyuki Watanabe, Manabu Ikeda and Etsuro Mori

Risk of stroke-associated pneumonia during hospitalization: predictive ability of combined A²DS² score and hyperglycemia

Stroke-associated pneumonia (SAP) is a common complication of cerebrovascular disease. The A²DS² score has been used to predict the risk of SAP. However, hyperglycemia is not included in this scale. The purpose o...

Authors: Yang Li, Yu Zhang, Liansheng Ma, Xiaoyuan Niu and Junsen Chang

A rare case of a completely thrombosed bilobed giant intracranial aneurysm of the anterior cerebral artery with spontaneous parent vessel thrombosis: case report

A huge spherical intracranial mass can sometimes be misdiagnosed, due to the lack of typical radiographic features. Thrombosed giant intracranial aneurysms (GIAs) are an uncommon but still a possible different...

Authors: Mehdi Chihi, Ramazan Jabbarli, Oliver Gembruch, Sarah Teuber-Hanselmann, Marvin Darkwah Oppong, Daniela Pierscianek, Alexander Radbruch, Martin Glas, Mark Stettner and Ulrich Sure

Impact of AKAP6 polymorphisms on Glioma susceptibility and prognosis

Glioma is the most common primary malignant brain tumor with high mortality and poor prognosis. Our aim was to clarify the correlation between Kinase-anchored protein 6 (AKAP6) gene polymorphisms and glioma susce...

Authors: Ming Zhang, Yonglin Zhao, Junjie Zhao, Tingqin Huang and Yuan Wu

Can risk modelling improve treatment decisions in asymptomatic carotid stenosis?

Carotid endarterectomy (CEA) is routinely performed for asymptomatic carotid stenosis, yet its average net benefit is small. Risk stratification may identify high risk patients that would clearly benefit from ...

Authors: James F. Burke, Lewis B. Morgenstern and Rodney A. Hayward

The protocol-guided rapid evaluation of veterans experiencing new transient neurological symptoms (PREVENT) quality improvement program: rationale and methods

Transient ischemic attack (TIA) patients are at high risk of recurrent vascular events; timely management can reduce that risk by 70%. The Protocol-guided Rapid Evaluation of Veterans Experiencing New Transien...

Authors: D. M. Bravata, L. J. Myers, B. Homoya, E. J. Miech, N. A. Rattray, A. J. Perkins, Y. Zhang, J. Ferguson, J. Myers, A. J. Cheatham, L. Murphy, B. Giacherio, M. Kumar, E. Cheng, D. A. Levine, J. J. Sico…

Neurology practice and stroke services across East China: a multi-site, county-level hospital-based survey

Neurological disorders are an economic and public health burden which requires efficient and adequate medical resources. Currently, little is known about the status of the quality of neurological care services...

Authors: Jun-Fang Zhang, Meng-Yao Qiu, Yu-Lei Zhang, Xi-Xi Wang, Guo-Ping Wang, Yu Geng, Ke-Zhong Zhang, Kan Fang and Yun-Cheng Wu

A case of dyskinesia after levetiracetam administration

Antiepileptic drug (AED) induced dyskinesia is an unusual manifestation in the medical field. In the previous case reports describing first generation-AED related involuntary movements, the authors suggested t...

Authors: Soo Hwan Yim, Yun Ho Choi, Kyoung Heo and Kyoo ho Cho

Interaction between COX-1 and COX-2 increases susceptibility to ischemic stroke in a Chinese population

Mutations of cyclooxygenase gene (COX gene) may increase the susceptibility of ischemic stroke. We investigated five variants (rs5788, rs1330344, rs3842788, rs20417, and rs689466) of two COX genes in order to ...

Authors: Lei Zhao, Jinghuan Fang, Muke Zhou, Jie Zhou, Lihua Yu, Ning Chen and Li He

Classification and management of epilepsy and epileptic syndromes in a cohort of 202 school children- a 2 year follow up study- Sudan

In this paper, seizure types, and epilepsy syndromes are elucidated as per ILAE (2010) classification. A brief outline of the antiepileptic drug regimens used and the outcome of seizure control in a two -year ...

Authors: Inaam N. Mohamed, Maha A. Elseed, Somia Mohamed, Ali Alsir, Emtinan K. Hamid, Ilham M. Omer, Sara M. Elsadig, Yasmin M. Gerais, Abdelgadir H. Osman, Aisha M. Bakhiet and Ahlam A. Hamed

PPAR-γ promotes p38 MAP kinase-mediated endothelial cell permeability through activating Sirt3

Ischemia-reperfusion (I/R)-induced vascular dysfunction is the main factor to acute ischemic stroke. Sirt3 is one of the sirtuin family members, which plays an important role in the development of neurological...

Authors: Zhenzhen Zhao, Xiaoxiu Zhang, Yuanqiang Dai, Ke Pan, Yu Deng, Yan Meng and Tao Xu

Multiple cerebral infarction diagnosed as Eosinophilic Granulomatosis with Polyangiitis by autopsy

Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare systemic vasculitis of unknown cause involving the brain and accompanied by prominent eosinophilia. Intracardiac thrombosis is a major cardiac com...

Authors: Kenichiro Hira, Hideki Shimura, Riyu Kamata, Masashi Takanashi, Akane Hashizume, Keiji Takahashi, Mizuho Sugiyama, Hiroshi Izumi, Nobutaka Hattori and Takao Urabe

Analysis of cardiac monitoring and safety data in patients initiating fingolimod treatment in the home or in clinic

Fingolimod (Gilenya®) is approved for relapsing forms of multiple sclerosis in the USA. Owing to transient heart-rate effects when initiating fingolimod, eligible patients undergo precautionary baseline assess...

Authors: Brandon Brown, Jamie L. Weiss, Scott Kolodny, Xiangyi Meng, Ian M. Williams and John A. Osborne

Age at menarche and risk of multiple sclerosis (MS): a systematic review and meta-analysis

Some studies have looked at the age at menarche and risk of Multiple Sclerosis (MS).We aimed to conduct a systematic review and meta-analysis to estimate a pooled odds ratio of developing MS by increasing age ...

Authors: Amirreza Azimi, Sara Hanaei, Mohammad Ali Sahraian, Mehdi Mohammadifar, Sreeram V. Ramagopalan and Mahsa Ghajarzadeh

Capsular warning syndrome: clinical analysis and treatment

Capsular warning syndrome (CWS) is a rare clinical syndrome, which is defined as a recurrent transient lacunar syndrome. The mechanism and clinical management of CWS remain unclear. The aim of the study was to...

Authors: Lanying He, Ronghua Xu, Jian Wang, Lili Zhang, Lijuan Zhang, Fangfang Zhou and Weiwei Dong

Vitamin D deficiency as a risk factor for dementia and Alzheimer’s disease: an updated meta-analysis

We aimed to comprehensively explore the associations between serum 25(OH)D deficiency and risk of dementia and Alzheimer’s disease(AD).

Authors: Bingyan Chai, Fulin Gao, Ruipeng Wu, Tong Dong, Cheng Gu, Qiaoran Lin and Yi Zhang

Takotsubo syndrome in patients with myasthenia gravis: a systematic review of previously reported cases

Myasthenia gravis associated takotsubo syndrome is a rare condition. This study aimed to explore its typical presentation, investigations and treatment through a systematic review of previously reported cases.

Authors: Devarajan Rathish and Minuri Karalliyadda

Spectrum of clinical features and neuroimaging findings in acute cerebral infarction patients with unusual ipsilateral motor impairment– a series of 22 cases

Cerebral infarction occurs when the arteries to brain are obstructed, and motor impairment contralateral to responsible lesion is commonly recognized. Few studies have profiled the characteristics of cases wit...

Authors: Zhe-Ren Tan, Chen Zhang and Fa-Fa Tian

Persistence with treatment for Wilson disease: a retrospective study

Wilson disease (WD) is genetically induced failure of copper metabolism which can be successfully treated with pharmacological agents. The prognosis for survival in most WD patients is favorable if diagnosis a...

Authors: Wojciech Masełbas, Anna Członkowska, Tomasz Litwin and Maciej Niewada