Search Our Scientific Publications & Authors

J Clin Res Pediatr Endocrinol 2019 Feb 14. Epub 2019 Feb 14.

Department of Pediatrics1, Korea Cancer Center Hospital, Seoul 139-706, Republic of Korea

Osteopetrosis is a rare genetic disease characterized by increased bone density and bone breakage due to defective osteoclast function. Autosomal dominant osteopetrosis type II, Albers-Schonberg disease, is characterized by the sclerosis of bones, predominantly involving the spine, pelvis, and the base of the skull. Here, we report a typical case of osteopetrosis in a 17. Read More

Neuron 2019 Jan 23. Epub 2019 Jan 23.

Gladstone Institute of Neurological Disease, San Francisco, CA 94158, USA; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address:

Cerebrovascular alterations are a key feature of Alzheimer's disease (AD) pathogenesis. However, whether vascular damage contributes to synaptic dysfunction and how it synergizes with amyloid pathology to cause neuroinflammation and cognitive decline remain poorly understood. Here, we show that the blood protein fibrinogen induces spine elimination and promotes cognitive deficits mediated by CD11b-CD18 microglia activation. Read More

Mult Scler J Exp Transl Clin 2019 Jan-Mar;5(1):2055217318824618. Epub 2019 Jan 16.

Regional Research, Providence Health and Services, USA.

Background: Natalizumab is an effective treatment for relapsing multiple sclerosis. Return of disease activity upon natalizumab discontinuance creates the need for follow-up therapeutic strategies.

Objective: To assess the efficacy of teriflunomide following natalizumab discontinuance in relapsing multiple sclerosis patients. Read More

Brain 2019 Jan 30. Epub 2019 Jan 30.

NeuroPoly Lab, Institute of Biomedical Engineering, Polytechnique Montreal, Montreal, QC, Canada.

Spinal cord lesions detected on MRI hold important diagnostic and prognostic value for multiple sclerosis. Previous attempts to correlate lesion burden with clinical status have had limited success, however, suggesting that lesion location may be a contributor. Our aim was to explore the spatial distribution of multiple sclerosis lesions in the cervical spinal cord, with respect to clinical status. Read More

Neurol Ther 2019 Jan 31. Epub 2019 Jan 31.

Department of Neurology, Inselspital-Bern University Hospital, University of Bern, Bern, Switzerland.

Introduction: Delayed-release dimethyl fumarate (DMF) is an effective treatment for multiple sclerosis (MS). Some patients experience gastrointestinal (GI) adverse events (AEs) that may lead to premature DMF discontinuation. This study characterized the impact of site-specific GI management strategies on the occurrence of GI events and discontinuation patterns. Read More

Mult Scler Relat Disord 2019 Jan 3;28:221-225. Epub 2019 Jan 3.

Department of Neurology, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey.

Background: Although there is accumulating evidence on neuropathic pain in persons with multiple sclerosis (pwMS), little is known about musculoskeletal pain. The aim was to examine the frequency, type, distribution of pain and related factors in pwMS.

Methods: This cross-sectional study included 223 pwMS. Read More

J Neuroimaging 2018 Dec 24. Epub 2018 Dec 24.

NMR Research Unit, Queen Square MS Centre, Department of Neuroinflammation, UCL Institute of Neurology, University College London, London, United Kingdom.

Background And Purpose: Magnetic resonance imaging (MRI)-derived spinal cord (SC) gray and white matter (GM/WM) volume are useful indirect measures of atrophy and neurodegeneration over time, typically obtained in the upper SC. Neuropathological evidence suggests that in certain neurological conditions, early degeneration may occur as low as the sacral SC. In this study, the feasibility of GM/WM segmentation of the conus medullaris (CM) was assessed in vivo. Read More

JAMA Neurol 2018 Dec 21. Epub 2018 Dec 21.

Department of Neurology, Mayo Clinic College of Medicine, Rochester, Minnesota.

Importance: Recognizing the characteristics of myelin oligodendrocyte glycoprotein autoantibody (MOG-IgG) myelitis is essential for early accurate diagnosis and treatment.

Objective: To evaluate the clinical, radiologic, and prognostic features of MOG-IgG myelitis and compare with myelitis with aquaporin-4-IgG (AQP4-IgG) and multiple sclerosis (MS).

Design, Setting, And Participants: We retrospectively identified 199 MOG-IgG-positive Mayo Clinic patients from January 1, 2000, through December 31, 2017, through our neuroimmunology laboratory. Read More

Indian J Ophthalmol 2019 Jan;67(1):163-164

Department of Ophthalmology, The Queen Elizabeth Hospital; Department of Ophthalmology, The Royal Adelaide Hospital; The South Australian Institute of Ophthalmology, Adelaide, South Australia, Australia.

Ophthalmic manifestations of multiple sclerosis are frequent including acute optic neuritis, ocular motor disturbances and intermediate uveitis. We report an unusual case of multiple sclerosis presenting as acute hypertensive uveitis. A 56-year-old man was referred by his family doctor with a 2-week history of right eye pain and decreased vision. Read More

Dev Med Child Neurol 2018 Dec 10. Epub 2018 Dec 10.

Neuroimmunology Group, Institute for Neuroscience and Muscle Research, The Kids Research Institute, Children's Hospital at Westmead, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.

Aim: We used magnetic resonance imaging (MRI) to compare the neuroimaging of children with their first episode of clinical enterovirus 71-associated transverse myelitis (EV71-TM), myelin oligodendrocyte glycoprotein antibody positive transverse myelitis (MOG-TM), aquaporin-4 antibody positive transverse myelitis (AQP4-TM), transverse myelitis in multiple sclerosis (MS-TM), and unclassified transverse myelitis (UNC-TM).

Method: We performed a retrospective blinded radiological assessment and compared the neuroimaging of 52 children (32 females, 20 males; mean age 9y 8mo, SD 5y 5mo, range 5mo-17y) presenting with their first episode of myelitis caused by EV71-TM (n=11), MOG-TM (n=10), AQP4-TM (n=9), MS-TM (n=13), and UNC-TM (n=9).

Results: In the EV71-TM group, lesions were distributed throughout the cord and enhancement of nerve roots (ventral and dorsal) was common. Read More

J Comp Neurol 2018 Dec 6. Epub 2018 Dec 6.

Sorbonne Université, UPMC Paris 06, Brain and Spine Institute, ICM, Hôpital de la Pitié Salpêtrière, Paris, France.

Specific magnetic resonance imaging (MRI) markers of myelin are critical for the evaluation and development of regenerative therapies for demyelinating diseases. Several MRI methods have been developed for myelin imaging, based either on acquisition schemes or on mathematical modeling of the signal. They generally showed good sensitivity but validation for specificity toward myelin is still warranted to allow a reliable interpretation in an in vivo complex pathological environment. Read More

Musculoskelet Surg 2018 Dec 4. Epub 2018 Dec 4.

Department of Orthopaedics, Division of Spine Surgery, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, 576-104, Karnataka, India.

Purpose: The present study evaluated the clinical and radiological outcomes in patients with tuberculosis of the thoracic and thoracolumbar spine, treated by an operative technique in which anterior debridement with posterior instrumentation and global fusion was performed through a single-stage posterior approach.

Methods: Ninty-seven patients with spinal tuberculosis, between T1 and L1, in whom anterior debridement, bone grafting, with posterior instrumentation and fusion was performed through a single-stage posterior approach, with a minimum follow-up of 2 years, formed the basis of this study. During each follow-up, neurological recovery was assessed using modified American Spinal Injury Association grading, healing of the disease was assessed by appearance of sclerosis and interbody fusion and the degree of kyphotic deformity was analysed using the modified Konstam's angle. Read More

Zh Nevrol Psikhiatr Im S S Korsakova 2018 ;118(10):97-107

Federal State Autonomous Institution 'National Medical Research Center for Neurosurgery named after Academician N.N. Burdenko' of the Ministry of Health of the Russian Federation, Moscow, Russia.

Antihypoxic, antioxidant and nootropic effects of mexidol contribute to the improvement of patients with cerebrovascular pathology. The results of clinical studies show that the sequential scheme of using mexidol (first i.v. Read More

Front Cell Neurosci 2018 15;12:418. Epub 2018 Nov 15.

Department of Experimental Biomedicine and Clinical Neuroscience, University of Palermo, Palermo, Italy.

This study was designed based on the hypothesis that changes in both the levels and surface marker expression of extracellular vesicles (EVs) isolated from the cerebrospinal fluid (CSF) may be associated with the clinical form, disease activity, and severity of multiple sclerosis (MS). The analyzes were performed on subjects affected by MS or other neurological disorders. EVs, which were isolated by ultracentrifugation of CSF samples, were characterized by flow cytometry. Read More

Handb Clin Neurol 2018 ;158:445-462

Sports Medicine Institute, Sandra and Malcolm Berman Brain and Spine Institute at LifeBridge Health, Baltimore, MD, United States. Electronic address:

Neurologic disease does not discriminate, even among athletes. Common neurologic diseases among athletes include multiple sclerosis, seizures, headaches, and sleep disorders. Although concrete guidelines for sport participation among athletes with neurologic diseases do not exist, evidence-based and consensus statements can aid healthcare providers in determining whether and to what extent such athletes should participate in sports. Read More

J Neurol Surg B Skull Base 2018 Dec 25;79(Suppl 5):S428-S430. Epub 2018 Sep 25.

Semmes Murphey Neurologic and Spine Institute, Memphis, Tennessee, United States.

Trigeminal neuralgia is a chronic pain disorder affecting the face. In approximately 80% of cases, it is most commonly caused, when the root entry zone (REZ) of the trigeminal nerve is compressed by the superior cerebellar artery (SCA). The etiology of the remaining 20% of cases is distributed among venous, arteriovenous malformations, posterior fossa tumors, multiple sclerosis plaque compressions, and other pathologies. Read More

Front Mol Neurosci 2018 8;11:409. Epub 2018 Nov 8.

Department of Brain and Cognitive Science, Massachusetts Institute of Technology, Cambridge, MA, United States.

Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder affecting the brain and other vital organs. Neurological symptoms include epilepsy, intellectual disability, and autism. TSC is caused by a loss-of-function mutation in the or gene. Read More

Cortex 2018 Dec 17;109:322-335. Epub 2018 Oct 17.

Department of Neurology and Laboratory of Functional Neurosciences (EA 4559), University Hospital of Amiens, France.

Although executive function disorders are among the most prevalent cognitive impairments a consensus on diagnostic criteria has yet to be reached. With a view to harmonizing these criteria, the present position paper (i) focuses on the main dysexecutive disorders, (ii) examines recent approaches in both the behavioral and cognitive domains, (iii) defines diagnostic boundaries for frontal syndrome, (iv) reports on the frequency and profile of the executive function disorders observed in the main brain diseases, and (v) proposes an operationalization of diagnostic criteria. Future work must define the executive processes involved in human adaptive behavior, characterize their impairment in brain diseases, and improve the management of these conditions (including remediation strategies and rehabilitation). Read More

Mult Scler Relat Disord 2019 Jan 2;27:200-202. Epub 2018 Nov 2.

Isfahan University of medical science, Isfahan, Iran.

Tumors have been frequently reported to be associated with neuromyelitis optica (NMO). Here we review a case of a 34-year-old woman who presented with complaint of one-sided visual loss. All Lab tests exhibited negative results which decreased the possibility of Auto-immune or neuro-inflammatory disorders. Read More

Medicine (Baltimore) 2018 Nov;97(45):e13026

IRCCS Centro Neurolesi "Bonino Pulejo," Messina, Italy.

Rationale: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative multisystem disorder, presenting with limb or bulbar onset. To date, there is no cure for ALS. At some stage of the disease, patients may complain of breathlessness due to respiratory failure, thus needing a noninvasive mechanical ventilation (NIMV) support. Read More

J Med Internet Res 2019 Jan 11;21(1):e10868. Epub 2019 Jan 11.

Academic Neurosurgery Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.

Background: Degenerative cervical myelopathy (DCM) is a common debilitating condition resulting from degeneration of the cervical spine. While decompressive surgery can halt disease progression, existing spinal cord damage is often permanent, leaving patients with lifelong disability. Early surgery improves the likelihood of recovery, yet the average time from the onset of symptoms to correct diagnosis is over 2 years. Read More

Front Neurol 2018 14;9:684. Epub 2018 Sep 14.

Molekulare Neurologie, Universitätsklinikum Erlangen, Erlangen, Germany.

Inertial sensors generate objective and sensitive metrics of movement disability that may indicate fall risk in many clinical conditions including multiple sclerosis (MS). The Timed-Up-And-Go (TUG) task is used to assess patient mobility because it incorporates clinically-relevant submovements during standing. Most sensor-based TUG research has focused on the placement of sensors at the spine, hip or ankles; an examination of thigh activity in TUG in multiple sclerosis is wanting. Read More

Biomed Res Int 2018 23;2018:9329123. Epub 2018 Aug 23.

Department of Neurology, SMDZ in Zabrze, Medical University of Silesia in Katowice, ul. 3-go Maja 13-15, 41-800 Zabrze, Poland.

Background: In addition to the widely known effect of vitamin D (vitD) on the skeleton, its role in the regulation of the immune response was also confirmed.

Aim: The assessment of biochemical and densitometric markers of calcium-phosphate metabolism in the groups of patients with relapsing-remitting multiple sclerosis (RRMS) selected due to the serum level of vitamin D.

Methods: The concentrations of biochemical markers and indices of lumbar spine bone densitometry (DXA) were determined in 82 patients divided into vitamin D deficiency (VitDd), insufficiency (VitDi), and normal vitamin D level (VitDn) subgroups. Read More

Medicina (B Aires) 2018;78 Suppl 2:75-81

Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina. E-mail:

Demyelinating diseases are a group of conditions of autoimmune etiology directed against the myelin of the central nervous system. In many cases, the onset of the illness is preceded by a nonspecific viral infection. Multiple sclerosis is a disease that evolves with relapses and remissions with polyfocal neurological deficits, being the most frequent optic neuritis, transverse myelitis and encephalic trunk involvement. Read More

BMJ Case Rep 2018 Sep 8;2018. Epub 2018 Sep 8.

Medicine of the Elderly Department, Royal Infirmary of Edinburgh, Edinburgh, UK.

This case describes an 81-year-old woman with a history of Sjögren's syndrome presenting with recurrent falls and poor balance. She subsequently developed new and rapidly evolving neurology including hyperaesthesia, spastic paraplegia and sphincteric dysfunction. Following serial clinical reviews and detailed investigations, MRI (brainstem and cervicothoracic spine) and a seropositive result for aquaporin 4 IgG, a diagnosis of neuromyelitis optica spectrum disorder (NMOSD) was made. Read More

J Neurosci 2018 Oct 5;38(42):9019-9033. Epub 2018 Sep 5.

Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta T2N 4N1, Canada,

Emotional dysfunction is common in multiple sclerosis (MS) patients and in mouse models of MS, including experimental autoimmune encephalomyelitis (EAE); however, the etiology of these behaviors is poorly understood. To identify CNS changes associated with these behaviors, we focused on the basolateral amygdala (BLA) because of its central role in the regulation of emotional behavior. Whole-cell recordings were performed in the principal neurons of the BLA in early EAE, before demyelination, T-cell invasion, and motor dysfunction. Read More

Clin Neuroradiol 2018 Aug 23. Epub 2018 Aug 23.

Multiple Sclerosis Center, Sheba Medical Center, Tel Hashomer, Israel.

Purpose: The difficult differentiation between multiple sclerosis (MS) lesions and cervical spondylotic myelopathy (CSM) in the cervical spine is well known. The magnetic resonance imaging (MRI) appearance of both lesions is similar, and clinical parameters are usually used for diagnosis. The objective was to establish a reliable radiologic paradigm for diagnosis of demyelinating lesions in the cervical spine. Read More

Medicine (Baltimore) 2018 Aug;97(33):e11725

Department of Spine Surgery, The First Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, People's Republic of China.

Rationale: Multiple diaphyseal sclerosis (MDS), known as Ribbing disease, is a rare congenital bone disease resulting from autosomal recessive inheritance. The case study involved a 22-year-old female patient who had been diagnosed with chronic sclerosing osteomyelitis due to lack of knowledge about MDS. Previous studies reported rarely on this condition. Read More

Joint Bone Spine 2018 Aug 3. Epub 2018 Aug 3.

CHU Gabriel-Montpied, 58, rue Montalembert, 63000 Clermont-Ferrand, France.

Spine J 2019 Jan 8;19(1):131-143. Epub 2018 Jun 8.

Department of Neuropathology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.

Background: Vertebral body hemangiomas with myelopathy are difficult to manage.

Objective: The objective of this study was to evaluate the role of intraoperative ethanol embolization, surgical decompression, and instrumented short-segment fusion in vertebral hemangioma (VH) with myelopathy and long-term outcome (>24 months).

Clinical Materials And Methods: This prospective study included symptomatic VH with cord compression with myelopathy. Read More

Brain Res Bull 2018 06 2;140:318-333. Epub 2018 Jun 2.

Department of Physiology and Biomedical Engineering, Mayo Clinic, Rochester, MN, USA; School of Biomedical Sciences, The University of Queensland, St Lucia, Australia. Electronic address:

Amyotrophic lateral sclerosis (ALS) is the most common motor neuron (MN) disease and is clinically characterised by the death of corticospinal motor neurons (CSMNs), spinal and brainstem MNs and the degeneration of the corticospinal tract. Degeneration of CSMNs and MNs leads inexorably to muscle wastage and weakness, progressing to eventual death within 3-5 years of diagnosis. The CSMNs, located within layer V of the primary motor cortex, project axons constituting the corticospinal tract, forming synaptic connections with brainstem and spinal cord interneurons and MNs. Read More

Front Mol Biosci 2018 3;5:44. Epub 2018 May 3.

Brain and Mind Research Center, Nagoya University, Nagoya, Japan.

Fused in sarcoma (FUS) is an RNA binding protein that regulates RNA metabolism including alternative splicing, transcription, and RNA transportation. FUS is genetically and pathologically involved in frontotemporal lobar degeneration (FTLD)/amyotrophic lateral sclerosis (ALS). Multiple lines of evidence across diverse models suggest that functional loss of FUS can lead to neuronal dysfunction and/or neuronal cell death. Read More

A A Pract 2018 May;10(9):223-225

From the University of Kansas Medical Center, Kansas City, Kansas.

Spasticity of spinal or cerebral origin is frequently treated with baclofen. Treatment interruption initially results in rebound spasticity; life-threatening withdrawal symptoms may follow. Severe rebound spasticity of leg muscles occurred in a multiple sclerosis patient after a 10-hour long perioperative pause of oral baclofen intake. Read More

Med Sci Monit 2018 Apr 29;24:2647-2654. Epub 2018 Apr 29.

Department of Spinal Surgery, Traditional Chinese Medicine Hospital of Xinjiang Uygur Autonomous Region, Urumchi, Xinjiang, China (mainland).

BACKGROUND We clarified the imaging features of Brucella spondylitis to enhance our understanding of the disease and to minimize misdiagnosis. MATERIAL AND METHODS Imaging data (X-ray, computed tomography [CT], and magnetic resonance imaging [MRI] data) of 72 Brucella spondylitis patients treated from 2010 to 2017 were retrospectively analyzed; diagnoses was made by evaluating laboratory and pathological data. RESULTS X-ray films revealed changes in intervertebral space heights, the number of lateral osteophytes, and bone destruction, which were more severe in the following order: lumbosacral vertebrae (56 cases, 77. Read More

Front Med (Lausanne) 2018 5;5:80. Epub 2018 Apr 5.

Department of Ophthalmology, Oregon Health and Science University, Portland, OR, United States.

Spondyloarthritis is a common type of arthritis which affects mostly adults. It consists of idiopathic chronic inflammation of the spine, joints, eyes, skin, gut, and prostate. Inflammation is often asymptomatic, especially in the gut and prostate. Read More

Cephalalgia 2019 Jan 8;39(1):21-28. Epub 2018 Apr 8.

Department of Neurology, Mayo Clinic. Rochester, MN, USA.

Background: The association of trigeminal neuralgia with pontine lesions has been well documented in multiple sclerosis, and we tested the hypothesis that occipital neuralgia in multiple sclerosis is associated with high cervical spinal cord lesions.

Methods: We retrospectively reviewed the records of 29 patients diagnosed with both occipital neuralgia and demyelinating disease by a neurologist from January 2001 to December 2014. We collected data on demographics, clinical findings, presence of C2-3 demyelinating lesions, and treatment responses. Read More

Open Orthop J 2018 16;12:105-114. Epub 2018 Mar 16.

Department of Orthopaedics, Henry Ford Hospital, 2799 West Grand Blvd. Detroit Michigan 48202, USA.

Background: Over the past decade, phenotypes have been used to help categorize knee osteoarthritis patients relative to being subject to disease, disease progression, and treatment response. A review of potential phenotype selection is now appropriate. The appeal of using phenotypes is that they most rely on simple physical examination, clinically routine imaging, and demographics. Read More

Mult Scler Relat Disord 2018 May 26;22:27-34. Epub 2018 Feb 26.

Biogen, 225 Binney St., Cambridge, MA 02142, USA. Electronic address:

Background: Delayed-release dimethyl fumarate (DMF) may be a therapeutic option for patients with relapsing-remitting multiple sclerosis (RRMS) who are treated with natalizumab and require a change in therapy. However, there is limited information regarding predictors of favorable treatment outcomes in patients switching from natalizumab to DMF. Clinical practices and sequencing protocols vary. Read More

Acta Clin Belg 2018 Dec 2;73(6):444-447. Epub 2018 Mar 2.

a Department of Internal Medicine and Infectious Diseases , Cliniques Universitaires Saint-Luc , Brussels , Belgium.

Objective And Importance: New methods of microbiology identification as MALDI-TOF MS increased the rate of Aerococci detection in microbiological samples making this germ an emerging pathogen. The purpose of this case report and literature review is to highlight the role of A. urinae in spine infection and discuss the management of this type of infection. Read More

Neurol Neuroimmunol Neuroinflamm 2018 Mar 22;5(2):e435. Epub 2018 Jan 22.

Department of Neurology (B.Z., X.G., B.M.K., B.G.W., J.-M.T., O.H.K.), Department of Radiology (B.Z., K.K.), and Department of Health Sciences Research (E.J.A.), Mayo Clinic College of Medicine, Rochester, MN; Department of Neurology (X.G.), The affiliated ZhongShan Hospital of DaLian University, LiaoNing, China; Multiple Sclerosis Center (D.P., C.J.A.), Keck School of Medicine, University of Southern California, Los Angeles; Department of Neurology (C.L.-F.), Hopital Pasteur, Nice, France; Cerrahpasa School of Medicine (A.S.), Istanbul University, Turkey; and Department of Neurology & Neurotherapeutics (D.T.O.), Clinical Center for Multiple Sclerosis, University of Texas Southwestern Medical Center, Dallas.

Objective: To assess whether cervical spinal cord atrophy heralds the onset of progressive MS.

Methods: We studied 34 individuals with radiologically isolated syndrome (RIS) and 31 patients with relapsing-remitting MS (RRMS) age matched to 25 patients within a year of onset of secondary progressive MS (SPMS). Two raters independently measured (twice per rater) the cervical spinal cord average segmental area (CASA) (mm) of axial T2-weighted images between C2 and C7 landmarks. Read More

Clin Med Insights Case Rep 2018 5;11:1179547617752685. Epub 2018 Feb 5.

Internal Medicine Residency Program, St. Mary Medical Center and UCLA, Long Beach, CA, USA.

Neuromyelitis optica spectrum disorders (NMOSDs) are a set of demyelinating disorders that primarily target the optic nerves and the spinal cord. Previously thought to be a subset of multiple sclerosis (MS), now is recognized as a distinct entity. We present a 59-year-old female patient who was admitted for acute upper and lower extremity weakness. Read More

J Urol 2017 08 15;198(2):260-262. Epub 2017 May 15.

Ophthalmic Genet 2018 Jun 16;39(3):373-376. Epub 2018 Jan 16.

b Department of Congenital Heart Center , University of Florida , Gainesville , FL , USA.

Background: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis. Read More

Acta Neuropathol 2018 Apr 4;135(4):529-550. Epub 2018 Jan 4.

CNR Institute of Neuroscience, via Vanvitelli 32, 20129, Milan, Italy.

Recent evidence indicates synaptic dysfunction as an early mechanism affected in neuroinflammatory diseases, such as multiple sclerosis, which are characterized by chronic microglia activation. However, the mode(s) of action of reactive microglia in causing synaptic defects are not fully understood. In this study, we show that inflammatory microglia produce extracellular vesicles (EVs) which are enriched in a set of miRNAs that regulate the expression of key synaptic proteins. Read More

Joint Bone Spine 2018 Dec 28;85(6):715-720. Epub 2017 Dec 28.

Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, 24 No. 63C-69 Carrera, Bogotá, Colombia. Electronic address:

Objective: To evaluate the relationship between resilience and clinical outcomes in patients with autoimmune rheumatic diseases.

Methods: Focus groups, individual interviews, and chart reviews were done to collect data on 188 women with autoimmune rheumatic diseases, namely rheumatoid arthritis (n=51), systemic lupus erythematosus (n=70), systemic sclerosis (n=35), and Sjögren's syndrome (n=32). Demographic, clinical, and laboratory variables were assessed including disease activity by patient reported outcomes. Read More

Acta Neurol Scand 2018 Mar 21;137(3):363-369. Epub 2017 Dec 21.

Department of Clinical Physiology, Nuclear Medicine and PET, Rigshospitalet, Copenhagen, Denmark.

Background: Multiple sclerosis (MS) patients are at increased risk of reduced bone mineral density (BMD) and fractures. The aetiology of bone loss in MS is unclear. Trabecular bone score (TBS) is a novel analytical tool that provides a measurement of the bone microarchitecture. Read More

Mult Scler 2017 Oct 1:1352458517735190. Epub 2017 Oct 1.

Biogen, Cambridge, MA, USA.

Background: Demonstration of clinical benefits on disability progression measures is an important attribute of effective multiple sclerosis (MS) treatments.

Objective: Examine efficacy of daclizumab beta versus intramuscular (IM) interferon beta-1a on measures of disability progression in patient subgroups from DECIDE.

Methods: Twenty-four-week confirmed disability progression (CDP), 24-week sustained worsening on a modified Multiple Sclerosis Functional Composite (MSFCS) where 3-Second Paced Auditory Serial Addition Test was replaced by Symbol Digit Modalities Test, and proportion of patients with clinically meaningful worsening in 29-Item Multiple Sclerosis Impact Scale physical impact subscale (MSIS-29 PHYS) score from baseline to week 96 were examined in the overall population and subgroups defined by baseline demographic/disease characteristics. Read More

Neural Regen Res 2017 Aug;12(8):1197-1209

Spinal Cord and Brain Injury Research Group, Stark Neurosciences Research Institute, Indiana University School of Medicine, Indianapolis, IN, USA.

Neural degeneration and regeneration are important topics in neurological diseases. There are limited options for therapeutic interventions in neurological diseases that provide simultaneous spatial and temporal control of neurons. This drawback increases side effects due to non-specific targeting. Read More

In Vivo 2017 Sep-Oct;31(5):1041-1046

Immunogenetics Laboratory, 1st Department of Neurology, Medical School of National and Kapodistrian University of Athens, Aeginition Hospital, Athens, Greece

Background: The comorbidity between Multiple Sclerosis (MS) and Human Immunodeficiency Virus (HIV) infection is particularly rare. Only a few cases of comorbidity of Clinically Definite(CD)-MS and HIV have been documented worldwide, while the potential beneficial role of antiretroviral therapy regarding MS activity has long been an area of debate.

Case Report: We present a 36-year old male, bearing a diagnosis of CD-MS for twelve years. Read More

J Neurol Sci 2017 Sep 9;380:79-81. Epub 2017 Jul 9.

Nehme and Therese Tohme Multiple Sclerosis Center, American University of Beirut Medical Center, Beirut, Lebanon.

We report a case of relapsing remitting multiple sclerosis (RRMS) with severe rebound syndrome 12weeks following discontinuation of teriflunomide therapy. The patient developed severe clinical relapses with significant increase in the number of brain and spine magnetic resonance imaging (MRI) lesions. She responded well to intravenous and oral steroids and was later maintained on rituximab. Read More