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Raju Kapoor, Pei-Ran Ho, Nolan Campbell, Ih Chang, Aaron Deykin, Fiona Forrestal, Nisha Lucas, Bei Yu, Douglas L Arnold, Mark S Freedman, Myla D Goldman, Hans-Peter Hartung, Eva Kubala Havrdová, Douglas Jeffery, Aaron Miller, Finn Sellebjerg, Diego Cadavid, Dan Mikol, Deborah Steiner
BACKGROUND: Although several disease-modifying treatments are available for relapsing multiple sclerosis, treatment effects have been more modest in progressive multiple sclerosis and have been observed particularly in actively relapsing subgroups or those with lesion activity on imaging. We sought to assess whether natalizumab slows disease progression in secondary progressive multiple sclerosis, independent of relapses. METHODS: ASCEND was a phase 3, randomised, double-blind, placebo-controlled trial (part 1) with an optional 2 year open-label extension (part 2)...
March 12, 2018: Lancet Neurology
Celeste Sassi, Michael A Nalls, Perry G Ridge, Jesse R Gibbs, Michelle K Lupton, Claire Troakes, Katie Lunnon, Safa Al-Sarraj, Kristelle S Brown, Christopher Medway, Jenny Lord, James Turton, Jose Bras, Sonja Blumenau, Mareike Thielke, Christa Josties, Dorette Freyer, Annette Dietrich, Monia Hammer, Michael Baier, Ulrich Dirnagl, Kevin Morgan, John F Powell, John S Kauwe, Carlos Cruchaga, Alison M Goate, Andrew B Singleton, Rita Guerreiro, Angela Hodges, John Hardy
Mendelian adult-onset leukodystrophies are a spectrum of rare inherited progressive neurodegenerative disorders affecting the white matter of the central nervous system. Among these, cerebral autosomal dominant and recessive arteriopathy with subcortical infarcts and leukoencephalopathy, cerebroretinal vasculopathy, metachromatic leukodystrophy, hereditary diffuse leukoencephalopathy with spheroids, and vanishing white matter disease present with rapidly progressive dementia as dominant feature and are caused by mutations in NOTCH3, HTRA1, TREX1, ARSA, CSF1R, EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5, respectively...
February 2, 2018: Neurobiology of Aging
Mahmod Panahi, Naeimeh Yousefi Mesri, Eva-Britt Samuelsson, Kirsten G Coupland, Charlotte Forsell, Caroline Graff, Saara Tikka, Bengt Winblad, Matti Viitanen, Helena Karlström, Erik Sundström, Homira Behbahani
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a familial fatal progressive degenerative disorder. One of the pathological hallmarks of CADASIL is a dramatic reduction of vascular smooth muscle cells (VSMCs) in cerebral arteries. Using VSMCs from the vasculature of the human umbilical cord, placenta and cerebrum of CADASIL patients, we found that CADASIL VSMCs had a lower proliferation rate compared to control VSMCs. Exposure of control VSMCs and endothelial cells (ECs) to media derived from CADASIL VSMCs lowered the proliferation rate of all cells examined...
March 13, 2018: Journal of Cellular and Molecular Medicine
Shinji Aoyama, Masahiro Mori, Akiyuki Uzawa, Tomohiko Uchida, Hiroki Masuda, Ryohei Ohtani, Satoshi Kuwabara
BACKGROUND: The risk of developing progressive multifocal leukoencephalopathy in natalizumab-treated multiple sclerosis (MS) patients is related to serum anti-JCV antibody (JCVAb) index. However, the correlation of JCVAb index with other disease-modifying treatments (DMTs) is not well understood. OBJECTIVE: In this study, we investigated the JCVAb seropositivity rate/JCVAb indexes and its correlation with clinical profiles in Japanese MS patients, and the relationship between JCVAb indexes and DMTs...
March 12, 2018: Journal of Neurology
Martijn T Wijburg, Iris Kleerekooper, Birgit I Lissenberg-Witte, Marlieke de Vos, Clemens Warnke, Bernard M J Uitdehaag, Frederik Barkhof, Joep Killestein, Mike P Wattjes
Importance: The JC virus (JCV) was named after the first patient to be described with progressive multifocal leukoencephalopathy (PML), John Cunningham. Detection of JC virus DNA in cerebrospinal fluid (CSF) by polymerase chain reaction (PCR), and of specific lesions by brain magnetic resonance imaging (MRI), are both considered essential for the diagnosis of natalizumab-associated PML (NTZ-PML) in patients with multiple sclerosis. However, strict pharmacovigilance by MRI can result in detection of patients with small lesions and undetectable JCV DNA in CSF...
March 12, 2018: JAMA Neurology
Eugene O Major
No abstract text is available yet for this article.
March 12, 2018: JAMA Neurology
Mayumi Yoshimi, Shoko Abe
Methotrexate (MTX)-induced encephalopathy is a grave complication in patients with malignancies. The early diagnosis of acute encephalopathy was difficult by conventional computed tomography (CT), and T1- or T2-weighted magnet resonance (MR) imaging. We report that the diffusion-weighted (DW) imaging is useful for early detection of acute leukoencephalopathy.
March 2018: Clinical Case Reports
Elaine J Lin, Shivani Reddy, Vidhi V Shah, Jashin J Wu
The use of biologic medications has represented a great advancement in the treatment of moderate to severe plaque psoriasis and has improved patients' quality of life. Despite the increasing popularity of biologics, their neurological side effects have been a constant concern. Reports of demyelinating diseases associated with tumor necrosis factor α (TNF-α) inhibitors continue to accumulate. Additionally, efalizumab was withdrawn from the market in 2009 for causing progressive multifocal leukoencephalopathy (PML)...
January 2018: Cutis; Cutaneous Medicine for the Practitioner
Xiao-Bo Fang, Dun-Jin Chen, Fang He, Jia Chen, Zhou Zhou, Yan-Ling Liang, Wei-Xi Zhang
OBJECTIVE: To explore the predictive factors of oedema types in reversible posterior leukoencephalopathy syndrome (RPLS) with preeclampsia (PE) and eclampsia, which is closely related to reversible lesions and clinical recovery. METHOD: We collected data from 44 consecutive patients diagnosed with RPLS in PE or eclampsia between 2013 and 2017. All patients were classified into vasogenic oedema (n = 31) or cytotoxic oedema (n = 13) groups according to magnetic resonance imaging (MRI) results...
January 2018: Pregnancy Hypertension
J Zhang, M Liu, L Zhou, Z B Zhang, J M Wang, Y W Jiang, Y Wu
Objective: To analyze the clinical and imaging features of hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) due to mutations in DARS, and to identify DARS mutations responsible for HBSL. Methods: Data on 2 HBSL patients who were admitted to the pediatric department of Peking University First Hospital from January 2009 through December 2016 were reviewed and the 2 patients were followed up. Targeted next generation sequencing, whole exome sequencing and Sanger sequencing were employed to identify potential genetic variations of the children and their parents...
March 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Cai Yuan, Candace Deberardinis, Rushang Patel, Seema M Shroff, Steven A Messina, Steven Goldstein, Shahram Mori
Progressive multifocal leukoencephalopathy (PML) is a rare, yet typically fatal complication of allogeneic stem cell transplantation. It is caused by reactivation of the John Cunningham (JC) virus in an immunocompromised host. This report describes an unfortunate case of PML in a recipient of an allogeneic stem cell transplant for acute myelogenous leukemia. The JC virus was undetectable in the patient's cerebrospinal fluid by PCR; however, a positive diagnosis was made after a brain biopsy. This and other published cases demonstrate that recipients of allogeneic stem cells can develop PML...
March 7, 2018: Transplant Infectious Disease: An Official Journal of the Transplantation Society
Takuya Konno, Takeshi Miura, Andrea M Harriott, Naomi Mezaki, Emily S Edwards, Rosa Rademakers, Owen A Ross, James F Meschia, Takeshi Ikeuchi, Zbigniew K Wszolek
BACKGROUND AND PURPOSE: Mutations in colony stimulating factor 1 receptor (CSF1R) cause adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). Patients with ALSP can be misdiagnosed as having acute ischemic stroke due to hyperintensity lesions on diffusion-weighted magnetic resonance imaging. Mutant CSF1R proteins identified in ALSP show a complete loss of autophosphorylation of CSF1R. METHODS: We conducted mutation screening of CSF1R in 123 patients with definite acute ischemic cerebrovascular syndrome and positive family history of stroke...
March 6, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Joseph R Berger, Vineeta Malik, Stuart Lacey, Paul Brunetta, Patricia B Lehane
This report assesses the observed risk of PML in patients treated with the anti-CD20 monoclonal antibody rituximab in the regulatory authority-approved autoimmune indications rheumatoid arthritis (RA), granulomatosis with polyangiitis (GPA), and microscopic polyangiitis (MPA). This was a cumulative analysis of confirmed PML cases in patients receiving rituximab for RA or GPA/MPA from both spontaneous reports and clinical trial sources, as captured in the manufacturer global company safety and clinical databases...
March 5, 2018: Journal of Neurovirology
C P Sawicki, S A Climans, C C Hsia, J A Fraser
Progressive multifocal leukoencephalopathy (pml) is a rare demyelinating disease of the central nervous system that most often affects immunocompromised individuals. It is caused by the reactivation of the John Cunningham virus (jcv), which is found in latent form in the majority of adults. We describe a 59-year-old man with multiple myeloma who developed severe neurological deficits during treatment with ixazomib-based chemotherapy. A diagnosis of pml was established with gadolinium-enhanced magnetic resonance imaging (mri) and by detection of jcv in the cerebrospinal fluid...
February 2018: Current Oncology
Wing Tung Esther Yeung, Ikuko Mizuta, Akiko Watanabe-Hosomi, Akiyoshi Yokote, Takashi Koizumi, Mao Mukai, Masako Kinoshita, Tomoyuki Ohara, Toshiki Mizuno
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), caused by NOTCH3, primarily affects small cerebral arteries; however, stenosis of major intracranial arteries has occasionally been reported. Recent studies identified a close association between the c.14576G>A (p.R4859K, rs112735431) variant of the ring finger protein 213 (RNF213) gene and sporadic intracranial arterial stenosis (ICAS). To determine whether RNF213 is associated with ICAS in CADASIL, we genotyped rs112735431 for 124 patients with CADASIL...
March 2, 2018: Journal of Human Genetics
Afsaneh Shirani, Olaf Stüve
Probably no other disease-modifying drug for multiple sclerosis has a more fascinating story than natalizumab from both the bench to bedside perspective and the postmarketing experience standpoint. Natalizumab is a monoclonal antibody that inhibits the trafficking of lymphocytes from the blood into the central nervous system by blocking the adhesion molecule α4-integrin. Natalizumab was approved as a disease-modifying drug for relapsing remitting multiple sclerosis only 12 years after the discovery of its target molecule-a time line that is rather fast for drug development...
March 2, 2018: Cold Spring Harbor Perspectives in Medicine
Carola Mullins, Jorge Miranda, Hugo Sandoval, Luis Ramos-Duran, Silvina B Tonarelli
Highly active antiretroviral therapy is well-established in the treatment of human immunodeficiency virus (HIV)-positive patients. Nonadherence with therapy regimens often leads to the occurrence of opportunistic infections that further complicate treatment and challenge the treating physician. We report a young HIV-positive patient who suffered from progressive multifocal leukoencephalopathy caused by the human John Cunningham virus and showed objective clinical improvement after adding mirtazapine to the treatment regimen, an observation that is supported by the emerging literature...
February 1, 2018: Innovations in Clinical Neuroscience
Daniel Kotlarz, Benjamin Marquardt, Tuva Barøy, Way S Lee, Liza Konnikova, Sebastian Hollizeck, Thomas Magg, Anna S Lehle, Christoph Walz, Ingo Borggraefe, Fabian Hauck, Philip Bufler, Raffaele Conca, Sarah M Wall, Eva M Schumacher, Doriana Misceo, Eirik Frengen, Beint S Bentsen, Holm H Uhlig, Karl-Peter Hopfner, Aleixo M Muise, Scott B Snapper, Petter Strømme, Christoph Klein
Transforming growth factor (TGF)-β1 (encoded by TGFB1) is the prototypic member of the TGF-β family of 33 proteins that orchestrate embryogenesis, development and tissue homeostasis1,2 . Following its discovery3 , enormous interest and numerous controversies have emerged about the role of TGF-β in coordinating the balance of pro- and anti-oncogenic properties4,5 , pro- and anti-inflammatory effects6 , or pro- and anti-fibrinogenic characteristics7 . Here we describe three individuals from two pedigrees with biallelic loss-of-function mutations in the TGFB1 gene who presented with severe infantile inflammatory bowel disease (IBD) and central nervous system (CNS) disease associated with epilepsy, brain atrophy and posterior leukoencephalopathy...
February 26, 2018: Nature Genetics
Michael M Wang
Cerebral small-vessel disease is a prevalent condition that is strongly associated with ischemic stroke and dementia. The most prevalent inherited cause of cerebral small-vessel disease is CADASIL, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, a disorder linked to mutations in NOTCH3. The most common symptoms of CADASIL are small ischemic strokes and/or transient ischemic attacks and cognitive impairment, appearing in middle age, that may progress to frank vascular dementia...
2018: Handbook of Clinical Neurology
Guy Helman, Sunita Venkateswaran, Adeline Vanderver
Unique clinical presentations and magnetic resonance imaging patterns can help differentiate the various adult presentations of leukodystrophies and leukoencephalopathies. White-matter disorders are genetically based disorders affecting the central nervous system white matter, with or without peripheral nervous system involvement. These disorders predominantly affect patients in the pediatric population; however, a number of classic leukodystrophies can present in adulthood. Disease progression can be of variable onset with a broad range of symptoms, usually progressing from cognitive dysfunction...
2018: Handbook of Clinical Neurology
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