abstract：BAKGROUND:Hereditary Spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of degenerative disorders characterized by progressive spasticity and weakness of the lower limbs. This study aimed to identify causative gene variants in two unrelated consanguineous Pakistani families presented with 2...

journal_title：Journal of the neurological sciences

authors： Bibi F,Efthymiou S,Bourinaris T,Tariq A,Zafar F,Rana N,Salpietro V,Houlden H,Raja GK,SYNaPS Study Group.,Saeed S,Minhas NM

更新日期：2020-04-15 00:00:00

abstract：:Recent advances in magnetic resonance high-resolution vessel wall imaging (HRVWI), which can detect intramural hematomas (IMH), improve the noninvasive diagnostic accuracy of isolated posterior inferior cerebellar artery dissection (iPICA-D). However, despite the risk of overlooking minute IMH, the utility of T2-weigh...

journal_title：Journal of the neurological sciences

authors： Kano Y,Inui S,Oguri T,Kato H,Yuasa H,Morimoto S,Sakurai K

更新日期：2020-04-15 00:00:00

abstract：INTRODUCTION:This study assessed the Health Related Quality of Life (HRQOL) of individuals with Friedreich Ataxia (FRDA) through responses to HRQOL questionnaires. METHODS:The SF-36, a generic HRQOL instrument, and symptom specific scales examining vision, fatigue, pain and bladder function were administered to indivi...

journal_title：Journal of the neurological sciences

authors： Xiong E,Lynch AE,Corben LA,Delatycki MB,Subramony SH,Bushara K,Gomez CM,Hoyle JC,Yoon G,Ravina B,Mathews KD,Wilmot G,Zesiewicz T,Susan Perlman M,Farmer JM,Rummey C,Lynch DR

更新日期：2020-03-15 00:00:00

abstract：PURPOSE:To evaluate the performance of a machine learning method based on texture parameters in conventional magnetic resonance imaging (MRI) in differentiating glioblastoma (GB) from brain metastases (METs). MATERIALS AND METHODS:In this retrospective study conducted between November 2008 and July 2017, we included 7...

journal_title：Journal of the neurological sciences

authors： Tateishi M,Nakaura T,Kitajima M,Uetani H,Nakagawa M,Inoue T,Kuroda JI,Mukasa A,Yamashita Y

更新日期：2020-03-15 00:00:00

abstract：AIMS:We aimed to study whether worsening in markers of kidney function parallels the progression in cerebral small vessel disease (cSVD) and cognitive decline. METHODS:Data from the ISSYS (Investigating Silent Strokes in Hypertensives Study), a longitudinal population-based study in hypertensives aged 50-70 and dement...

journal_title：Journal of the neurological sciences

authors： Jiménez-Balado J,Riba-Llena I,Pizarro J,Palasí A,Penalba A,Ramírez C,Maisterra O,Espinel E,Ramos N,Pujadas F,Serón D,Delgado P

更新日期：2020-02-15 00:00:00

abstract：:Multiple studies on cerebral ischemia have been performed in animal models to propose different strategies of neuroprotection that mitigate either the early or late consequences of the disease. These therapies have been successful in reducing the volume of infarction, the proinflammatory cascade, and the amount of fre...

journal_title：Journal of the neurological sciences

authors： Gutiérrez-Vargas JA,Cardona-Gómez GP

更新日期：2020-01-15 00:00:00

abstract：PURPOSE:The reasons why a specific subset of glioblastoma (GBM) patients survive longer than others is still unclear. This study analyzed a cohort of long-term and very-long-term GBM survivors to determine which genetic alterations or patient's characteristics influence survival time. METHODS:We retrospectively review...

journal_title：Journal of the neurological sciences

authors： Marton E,Giordan E,Siddi F,Curzi C,Canova G,Scarpa B,Guerriero A,Rossi S,D' Avella D,Longatti P,Feletti A

更新日期：2020-01-15 00:00:00

abstract：BACKGROUND:Gait disturbance gradually worsens as Parkinson's disease (PD) progresses, which significantly affects the quality of life of PD patients. Treadmill-based gait analysis systems can measure gait parameters including the dynamic center-of-pressure (COP) trajectory during ambulation. In this study, we hypothesi...

journal_title：Journal of the neurological sciences

authors： Shin C,Ahn TB

更新日期：2020-01-15 00:00:00

abstract：INTRODUCTION:The ventral attention network (VAN) is an important mediator of stimulus-driven attention. Multiple cortical areas, such as the middle and inferior frontal gyri, anterior insula, inferior parietal lobule, and temporo-parietal junction have been linked in this processing. However, knowledge of network conne...

journal_title：Journal of the neurological sciences

authors： Allan PG,Briggs RG,Conner AK,O'Neal CM,Bonney PA,Maxwell BD,Baker CM,Burks JD,Sali G,Glenn CA,Sughrue ME

更新日期：2020-01-15 00:00:00

abstract：OBJECTIVE:Stiff person syndrome (SPS) is usually characterized by truncal muscle rigidity and episodic painful spasms, but it sometimes appears with ocular symptoms called "stiff eyes". We recorded saccade movements in an SPS patient manifesting with "stiff eyes" conditions with slow saccade velocity and evaluated the ...

journal_title：Journal of the neurological sciences

authors： Kodama S,Tokushige SI,Sugiyama Y,Sato K,Otsuka J,Shirota Y,Hamada M,Iwata A,Toda T,Tsuji S,Terao Y

更新日期：2020-01-15 00:00:00

abstract：:Naturally occurring botulinum toxin (BoNT) serotypes have different pharmacological features of therapeutic and aesthetic interest. This phase 1, double-blind, placebo-controlled study (EudraCT: 2016-002609-20) assessed safety, tolerability and pharmacodynamics (PD) of the first recombinant BoNT serotype E (rBoNT-E) v...

journal_title：Journal of the neurological sciences

authors： Pons L,Vilain C,Volteau M,Picaut P

更新日期：2019-12-15 00:00:00

abstract：:Unilateral facial spasms (UFS) are frequently caused by hemifacial spasm (HFS), a disorder that usually results from vascular loop compression at the root exit zone of the facial nerve. However, UFS can also be a manifestation of other conditions, including brainstem tumours or demyelination, post-Bell's synkinesis, l...

journal_title：Journal of the neurological sciences

authors： Sringean J,Dressler D,Bhidayasiri R

更新日期：2019-12-15 00:00:00

abstract：PURPOSE:To evaluate the clinical implications of status epilepticus in patients with metastases to the brain as well as associated demographic, clinical, EEG and radiographic features. METHODS:Retrospective chart review of 19 patients with metastases to the brain who subsequently developed status epilepticus. RESULTS...

journal_title：Journal of the neurological sciences

authors： Fox J,Ajinkya S,Greenblatt A,Houston P,Lekoubou A,Lindhorst S,Cachia D,Olar A,Kutluay E

更新日期：2019-12-15 00:00:00

abstract：BACKGROUND:Restless legs syndrome (RLS) is characterized by the urge to move the legs accompanied by movement-responsive, abnormal sensations, which worsen at rest and night. We investigated the distribution of sensory symptoms and clinical correlations in patients with RLS and its variants. METHODS:Eighty-nine patien...

journal_title：Journal of the neurological sciences

authors： Suzuki K,Suzuki S,Miyamoto M,Miyamoto T,Matsubara T,Nozawa N,Arikawa T,Nakajima I,Hirata K

更新日期：2019-12-15 00:00:00

abstract：INTRODUCTION:Diagnosis of Parkinson's disease (PD) is mainly based on clinical features. Accurate neurological examination is required but dopamine transporter (DaT) single photon emission computed tomography (SPECT) could be perfomed to support the diagnosis in ambiguous cases. The aim of this work is to describe the ...

journal_title：Journal of the neurological sciences

authors： Coarelli G,Garcin B,Roze E,Vidailhet M,Degos B

更新日期：2019-11-15 00:00:00

abstract：:HIV-associated distal sensory polyneuropathy (DSP), with or without neuropathic symptoms, can develop after anti-retroviral therapy (ART). Symptoms frequently involve small fibres but reports on autonomic dysfunction in HIV-DSP are sparse. We studied an HIV-infected cohort after 5 years of ART, and report on the frequ...

journal_title：Journal of the neurological sciences

authors： Dudley MT,Borkum M,Basera W,Wearne N,Heckmann JM

更新日期：2019-11-15 00:00:00

abstract：BACKGROUND:Neurovascular Coupling is the cerebral mechanism responsible for linking neuronal activity, cerebral metabolism and regional cerebral blood flow (CBF). The direct relation between functional brain activity during active, passive and motor imagery paradigms and changes in CBF has been widely investigated usin...

journal_title：Journal of the neurological sciences

authors： Caruso P,Ridolfi M,Furlanis G,Ajčević M,Semenic M,Moretti R,Naccarato M,Manganotti P

更新日期：2019-10-15 00:00:00

abstract：BACKGROUND:The impact of deep brain stimulation (DBS) on cognitive and urinary disorders, falls, and eventually hospitalizations and mortality in Parkinson's disease (PD) is still debated. OBJECTIVE:We compared the rates of dementia, mild cognitive impairment (MCI), urinary incontinence, nocturia, falls, hospitalizati...

journal_title：Journal of the neurological sciences

authors： Scelzo E,Beghi E,Rosa M,Angrisano S,Antonini A,Bagella C,Bianchi E,Caputo E,Lena F,Lopiano L,Marcante A,Marceglia S,Massaro F,Modugno N,Pacchetti C,Pilleri M,Pozzi NG,Romito LM,Santilli M,Tamma F,Weis L,Zibetti

更新日期：2019-10-15 00:00:00

abstract：:Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) is a rare, life-threatening disease, caused by point mutations in the transthyretin gene. It is a heterogeneous, multisystem disease with rapidly progressing polyneuropathy (including sensory, motor, and autonomic impairments) and cardiac dysfunction. M...

journal_title：Journal of the neurological sciences

authors： Dyck PJB,González-Duarte A,Obici L,Polydefkis M,Wiesman JF,Antonino I,Litchy WJ,Dyck PJ

更新日期：2019-10-15 00:00:00

abstract：:Formation of protein aggregation is considered a hallmark feature of various neurological diseases. Amyotrophic lateral sclerosis is one such devastating neurodegenerative disorder characterized by mutation in Cu/Zn superoxide dismutase protein (SOD1). In our study, we contemplated the most aggregated and pathogenic m...

journal_title：Journal of the neurological sciences

authors： Srinivasan E,Rajasekaran R

更新日期：2019-10-15 00:00:00

abstract：BACKGROUND:Non-motor symptoms (NMSs) are clearly more prevalent in Parkinson's disease (PD) patients compared to healthy individuals. However, NMSs are also common in the elderly and other neurological conditions, and thus, it is not known whether NMSs could be used to differentiate PD from parkinsonism/tremor without ...

journal_title：Journal of the neurological sciences

authors： Jaakkola E,Joutsa J,Mäkinen E,Noponen T,Pitkonen M,Levo R,Mertsalmi T,Scheperjans F,Kaasinen V

更新日期：2019-09-15 00:00:00

abstract：OBJECTIVES:Abnormal swallowing or dysphagia is a potentially fatal symptom in Parkinson's disease (PD) and is characterized by frequent silent aspiration, which is an unrecognized risk for aspiration pneumonia. While the effects of oral levodopa on swallowing functions remain controversial, several small-scale studies ...

journal_title：Journal of the neurological sciences

authors： Hirano M,Isono C,Fukuda K,Ueno S,Nakamura Y,Kusunoki S

更新日期：2019-09-15 00:00:00

abstract：OBJECTIVE:Despite the strong evidence for the efficacy of surgery to treat temporal lobe epilepsy, the number of such surgeries has plateaued in western countries. This study examined trends in the number of epilepsy cases diagnosed, number of surgeries performed, and certain characteristics of surgery patients in west...

journal_title：Journal of the neurological sciences

authors： Qiu X,Lai W,Kinoshita M,Zhang L,Li H,Peng A,Li W,Chen L

更新日期：2019-08-15 00:00:00

abstract：OBJECTIVE:Findings from studies of the association between Zika virus (ZIKV) infection and Guillain-Barré syndrome (GBS) are inconsistent. I conducted a systematic review and meta-analysis to clarify the nature of this association. METHODS:I searched PubMed, Scopus, Cochrane, CINAHL, Web of Science, Scielo, and DOAJ f...

journal_title：Journal of the neurological sciences

authors： Bautista LE

更新日期：2019-08-15 00:00:00

abstract：OBJECTIVE:To describe the phenotype of individuals with intermediate allele (IA) CAG repeat length in the huntingtin (HTT) gene evaluated at the Parkinson's Disease Center and Movement Disorders Clinic (PDCMDC) at Baylor College of Medicine (BCM). BACKGROUND:Huntington disease (HD) is caused by a mutation in the HTT g...

journal_title：Journal of the neurological sciences

authors： Savitt D,Jankovic J

更新日期：2019-07-15 00:00:00

abstract：:Psychiatric and intellectual comorbidities are common in patients with epilepsy. However, data on the use of antiepileptic drugs in these patients are still lacking. This study assessed the real-world effectiveness and safety/tolerability of eslicarbazepine acetate (ESL) in patients with intellectual disability and ps...

journal_title：Journal of the neurological sciences

authors： Doherty CP,Rheims S,Assenza G,Boero G,Chaves J,McMurray R,Villanueva V

更新日期：2019-07-15 00:00:00

abstract：BACKGROUND:Direct oral anticoagulants (DOACs) can reduce the frequency of cardioembolic stroke with non-valvular atrial fibrillation as well as or better compared to vitamin K antagonists (VKAs). However, whether taking DOACs prior to stroke can prevent acute major cerebral artery occlusion (MCAO) has not been fully el...

journal_title：Journal of the neurological sciences

authors： Tomari S,Arima J,Yoshida T,Yamashita H,Sata R,Hamada R,Kanda N,Takashima H

更新日期：2019-07-15 00:00:00

abstract：BACKGROUND AND PURPOSE:Ischemic lesions rarely affect the cingulate cortex (CC) in isolation, restricting human lesion/behavioural change correlational analysis. The aim of this study was to determine clinical, neuropsychological and neuroimaging features of isolated cingulate infarcts. METHODS:We studied, 3800 patien...

journal_title：Journal of the neurological sciences

authors： Kumral E,Erdoğan CE,Bayam FE,Arslan H

更新日期：2019-07-15 00:00:00

abstract：:Hypnic headache (HH) is a rare benign disorder described initially by Raskin in 1988. It is characterized by recurrent nocturnal episodes of headache that periodically awaken the sleeping patient and usually occur in the elderly. This review aimed to describe the clinical features of the HH cases published in the lite...

journal_title：Journal of the neurological sciences

authors： Silva-Néto RP,Santos PEMS,Peres MFP

更新日期：2019-06-15 00:00:00

abstract：BACKGROUND:Clonazepam is considered to be a first-line treatment for rapid eye movement sleep-related behavior disorder (RBD) in Parkinson's disease (PD). The purpose of this study was to determine the short-term efficacy and safety of clonazepam for the treatment of probable RBD (pRBD) in patients with PD. METHODS:We...

journal_title：Journal of the neurological sciences

authors： Shin C,Park H,Lee WW,Kim HJ,Kim HJ,Jeon B

更新日期：2019-06-15 00:00:00

abstract：PURPOSE:To investigate the clinical characteristics and outcomes of myelin oligodendrocyte glycoprotein antibody-seropositive optic neuritis (MOG-ON) in patients with varying ages of onset in China. METHODS:Patients displaying symptoms of MOG-ON were recruited from the Neuro-ophthalmology Department in the Chinese Peo...

journal_title：Journal of the neurological sciences

authors： Song H,Zhou H,Yang M,Xu Q,Sun M,Wei S

更新日期：2019-05-15 00:00:00

abstract：BACKGROUND:Fatigue is a common and debilitating symptom in multiple sclerosis (MS). Over the past decade, a growing body of research has focussed on the pathophysiological mechanisms underlying central (cognitive and physical) fatigue in MS. The precise mechanisms causing fatigue in MS patients are complex and poorly u...

journal_title：Journal of the neurological sciences

authors： Arm J,Ribbons K,Lechner-Scott J,Ramadan S

更新日期：2019-05-15 00:00:00

abstract：:The gut microbiome is composed of an enormous number of microorganisms, generally regarded as commensal bacteria. Resident gut bacteria are an important contributor to health and significant evidence suggests that the presence of healthy and diverse gut microbiota is important for normal cognitive and emotional proces...

journal_title：Journal of the neurological sciences

authors： Pan JX,Deng FL,Zeng BH,Zheng P,Liang WW,Yin BM,Wu J,Dong MX,Luo YY,Wang HY,Wei H,Xie P

更新日期：2019-05-15 00:00:00

abstract：:Stroke is a leading cause of global morbidity and mortality. Sub-Saharan Africa (SSA), where an unprecedented rise in stroke burden is currently raging, has the highest age-standardized stroke incidence, stroke prevalence, and stroke mortality rates. This is in sharp contrast to the relative decline in stroke incidenc...

journal_title：Journal of the neurological sciences

authors： Owolabi M,Sarfo FS,Akinyemi R,Gebreyohanns M,Ovbiagele B

更新日期：2019-05-15 00:00:00

abstract：:Complex I (CI) is the largest component of the mitochondrial respiratory chain (MRC) and it is made up of 7 mitochondrial DNA (mtDNA)-encoded and at least 38 nuclear DNA-encoded subunits. Isolated CI deficiency is the most common single enzyme deficiency in the heterogeneous group of MRC disorders and it is a relative...

journal_title：Journal of the neurological sciences

authors： Tolomeo D,Rubegni A,Severino M,Pochiero F,Bruno C,Cassandrini D,Madeo A,Doccini S,Pedemonte M,Rossi A,D'Amore F,Donati MA,Di Rocco M,Santorelli FM,Nesti C

更新日期：2019-04-15 00:00:00

abstract：BACKGROUND:Antiplatelet therapies for secondary prevention of ischemic stroke or transient ischemic attack (TIA) is a highly active research topic with five critical drugs obtained by visual analysis. We aimed to compare and rank multiple antiplatelet therapies using a network meta-analysis. METHODS:Relevant medical d...

journal_title：Journal of the neurological sciences

authors： Xiang RW,Han RB,Yang JY,Zhao MY,Zhao QC,Chen HS,Zhao FQ,Sun ZY,Zhao T,Song TY

更新日期：2019-04-15 00:00:00

abstract：OBJECTIVE:This study reviewed our experience in treating patients with vestibular schwannoma (VS) who had acute sensorineural hearing loss (ASHL) early after radiosurgery. PATIENTS AND METHODS:Seventy VS patients underwent cyberknife radiosurgery. Of them, 6 patients had ASHL early (<6 m) after radiosurgery (Group A),...

journal_title：Journal of the neurological sciences

authors： Wu CH,Chen CM,Cheng PW,Young YH

更新日期：2019-04-15 00:00:00

abstract：:As an inhibitor of the immune system and a longevity drug, rapamycin has been suggested as a treatment for Alzheimer's disease, although the underlying mechanisms remain to be clarified. To elucidate the mechanisms, we performed a high-throughput quantitative proteomics analysis and bioinformatics analysis of the chan...

journal_title：Journal of the neurological sciences

authors： Wang X,Xia W,Li K,Zhang Y,Ge W,Ma C

更新日期：2019-04-15 00:00:00

abstract：BACKGROUND:The timed-up-and-go test (TUG) is a popular test for mobility, but it only measures the total time to complete tasks. Recent advances in smartphone technology enables measuring respective times of 6 components in the test (Stand, Go, Turn1, Come, Turns and Sit). We examined availability of these data for ass...

journal_title：Journal of the neurological sciences

authors： Ishikawa M,Yamada S,Yamamoto K,Aoyagi Y

更新日期：2019-03-15 00:00:00

abstract：PURPOSE:Brain interstitial fluid plays an important role in the excretion of metabolic waste products into the cerebrospinal fluid through perivascular spaces (PVS). To investigate the normal function of PVS in healthy elderly individuals, we assessed the relationship between PVS and white matter hyperintensity (WMH) o...

journal_title：Journal of the neurological sciences

authors： Yamada S,Ishikawa M,Yamamoto K,Yamaguchi M,Oshima M

更新日期：2019-03-15 00:00:00