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leukoencephalopathies

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https://www.readbyqxmd.com/read/28724360/injury-of-ascending-reticular-activating-system-associated-with-delayed-post-hypoxic-leukoencephalopathy-a-case-report
#1
Sung Ho Jang, Hyeok Gyu Kwon
BACKGROUND: Delayed post-hypoxic leukoencephalopathy (DPHL) is a demyelinating syndrome characterized by neurological relapse after an initial recovery from hypoxic brain injury. We describe a patient with impaired consciousness following DPHL, concurrent with injury of the ascending reticular activating system (ARAS) shown using diffusion tensor tractography (DTT). CASE PRESENTATION: A 50-year-old male patient was in a drowsy mental state after exposure to carbon monoxide (CO) for about ten hours...
July 19, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28723803/leukoencephalopathy-with-calcifications-and-cysts-a-case-report
#2
Yubao Ma, Xingwen Zhang, Chen Cheng, Quangang Xu, Hai Di, Jiao Zhao, Dehui Huang, Shengyuan Yu
RATIONALE: Leukoencephalopathy with calcifications and cysts (LCC) is an uncommon entity characterized by edematous leukoencephalopathy, cerebral calcifications, and parenchymal cysts. Due to its rarity, the clinical, radiological, and histopathological features have yet to be well elucidated. PATIENT CONCERNS: The first case is a 35-year-old female who was asymptomatic. A giant intracranial cyst was incidentally detected radiologically, and it was slowly growing in the recent 10 years...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28721111/visual-consequences-of-medications-for-multiple-sclerosis-the-good-the-bad-the-ugly-and-the-unknown
#3
REVIEW
Heather E Moss
Multiple sclerosis (MS) is associated with vision changes both due to MS effects on visual pathways and due to medication effects on the visual pathways. Distinguishing the causes of vision change are critical to appropriate diagnosis and management. The incidence, presentation, and treatment of fingolimod-associated macular edema, alemtuzumab-associated thyroid orbitopathy, and progressive multifocal leukoencephalopathy in MS patients are reviewed. Evidence for beneficial effects of acute, chronic, and symptomatic MS medications on vision is presented...
2017: Eye and Brain
https://www.readbyqxmd.com/read/28721050/the-use-of-natalizumab-for-multiple-sclerosis
#4
REVIEW
Rachel Brandstadter, Ilana Katz Sand
Natalizumab is a monoclonal antibody that acts as an α4 integrin antagonist to prevent leukocyte trafficking into the central nervous system. It is US Food and Drug Administration (FDA) approved for the treatment of relapsing-remitting multiple sclerosis (RRMS). Natalizumab demonstrated high efficacy in Phase III trials by reducing the annualized relapse rate, preventing multiple sclerosis (MS) lesion accumulation on magnetic resonance imaging, and decreasing the probability of sustained progression of disability...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28716534/mutations-in-tyrobp-are-not-a-common-cause-of-dementia-in-a-turkish-cohort
#5
Lee Darwent, Susana Carmona, Ebba Lohmann, Gamze Guven, Celia Kun-Rodrigues, Basar Bilgic, Hasmet Hanagasi, Hakan Gurvit, Nihan Erginel-Unaltuna, Meltem Pak, John Hardy, Andrew Singleton, Jose Brás, Rita Guerreiro
Mutations in TYROBP and TREM2 have been shown to cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Recently, variants in TREM2 were also associated with frontotemporal dementia and Alzheimer's disease. Given the functional proximity between these 2 genes, we investigated the genetic variation of TYROBP in a Turkish cohort of 103 dementia patients. No mutations or copy number variants predicted to be pathogenic were identified. These results indicate that mutations in TYROBP are not a common cause of dementia in this Turkish cohort...
June 28, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28716282/serum-amyloid-p-component-a-novel-potential-player-in-vessel-degeneration-in-cadasil
#6
Akihito Nagatoshi, Mitsuharu Ueda, Akihiko Ueda, Masayoshi Tasaki, Yasuteru Inoue, Yihong Ma, Teruaki Masuda, Mayumi Mizukami, Sayaka Matsumoto, Takayuki Kosaka, Takayuki Kawano, Takaaki Ito, Yukio Ando
In cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), granular osmiophilic material (GOM) may play some roles in inducing cerebrovascular events. To elucidate the pathogenesis of CADASIL, we used laser microdissection and liquid chromatography-tandem mass spectrometry to analyze cerebrovascular lesions of patients with CADASIL for GOM. The analyses detected serum amyloid P component (SAP), annexin A2, and periostin as the proteins with the largest increase in the samples, which also demonstrated NOTCH3...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28711999/erratum-to-progressive-multifocal-leukoencephalopathy-in-patients-treated-with-fumaric-acid-esters-a-review-of-19-cases
#7
Robbert-Jan Gieselbach, Annemarie H Muller-Hansma, Martijn T Wijburg, Marjolein S de Bruin-Weller, Bob W van Oosten, Dennis J Nieuwkamp, Frank E Coenjaerts, Mike P Wattjes, Jean-Luc Murk
No abstract text is available yet for this article.
July 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28707781/john-cunningham-virus-conversion-in-relation-to-natalizumab-concentration-in-multiple-sclerosis-patients
#8
Z L E van Kempen, C E Leurs, A de Vries, A Vennegoor, T Rispens, M P Wattjes, J Killestein
BACKGROUND AND PURPOSE: Infection with the John Cunningham virus (JCV) is required for the development of progressive multifocal leukoencephalopathy, the feared complication of natalizumab treatment in multiple sclerosis patients. The JCV seroconversion rate seems higher in natalizumab treated patients than in the normal population, with an unknown cause. METHODS: Natalizumab concentration was correlated to JCV antibody status and seroconversion in a large cohort of multiple sclerosis patients...
July 14, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28702507/brainstem-phenotype-of-cathepsin-a-related-arteriopathy-with-strokes-and-leukoencephalopathy
#9
Yun Tae Hwang, Rahul Lakshmanan, Indran Davagnanam, Andrew G B Thompson, David S Lynch, Henry Houlden, Nin Bajaj, Sofia H Eriksson, Doris-Eva Bamiou, Jason D Warren
No abstract text is available yet for this article.
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28698285/therapeutic-antibody-targeting-of-notch3-signaling-prevents-mural-cell-loss-in-cadasil
#10
Arturo I Machuca-Parra, Alexander A Bigger-Allen, Angie V Sanchez, Anissa Boutabla, Jonathan Cardona-Vélez, Dhanesh Amarnani, Magali Saint-Geniez, Christian W Siebel, Leo A Kim, Patricia A D'Amore, Joseph F Arboleda-Velasquez
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a neurological syndrome characterized by small vessel disease (SVD), stroke, and vascular cognitive impairment and dementia caused by mutations in NOTCH3 No therapies are available for this condition. Loss of mural cells, which encompass pericytes and vascular smooth muscle cells, is a hallmark of CADASIL and other SVDs, including diabetic retinopathy, resulting in vascular instability. Here, we showed that Notch3 signaling is both necessary and sufficient to support mural cell coverage in arteries using genetic rescue in Notch3 knockout mice...
July 11, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28685296/methamphetamine-induced-toxic-leukoencephalopathy-clinical-radiological-and-autopsy-findings
#11
Jiao Mu, Meiyu Li, Ying Guo, Bin Lv, Mingjie Qiu, Hongmei Dong
Toxic leukoencephalopathy represents a process of structural alteration of the white matter. It is caused by substance abuse including drugs such as heroin, cocaine, toluene and ethanol. We reported the clinical, radiological and autopsy findings of a rare case of toxic leukoencephalopathy following chronic methamphetamine (MA) usage. A 34-year-old man with a 3-year history of MA abuse experienced progressive sluggish state, limb weakness, inability to stand and eating disorders, followed by rapid progression to coma and death...
July 6, 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/28681388/mmp9-is-decreased-in-natalizumab-treated-ms-patients-at-risk-for-pml
#12
Nicolas Fissolo, Béatrice Pignolet, Clara Matute-Blanch, Juan Carlos Triviño, Berta Miró, Miriam Mota, Santiago Perez-Hoyos, Alex Sanchez, Patrick Vermersch, Aurélie Ruet, Jérome de Sèze, Pierre Labauge, Sandra Vukusic, Caroline Papeix, Laurent Almoyna, Ayman Tourbah, Pierre Clavelou, Thibault Moreau, Jean Pelletier, Christine Lebrun-Frenay, Xavier Montalban, David Brassat, Manuel Comabella
OBJECTIVE: To identify biomarkers associated with the development of progressive multifocal leukoencephalopathy (PML) in multiple sclerosis (MS) patients treated with natalizumab (NTZ). METHODS: Relapsing-remitting MS (RRMS) patients who developed PML under NTZ therapy (pre-PML) and non-PML natalizumab-treated patients (NTZ-ctr) were included in the study. Cryopreserved peripheral blood mononuclear cells (PBMC) and serum samples collected at baseline, at one- and two-year treated time points, and during PML were analyzed for gene expression by RNA-sequencing and for serum protein levels by LUMINEX and ELISA assays respectively...
July 6, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28681343/detectable-cerebrospinal-fluid-jcv-dna-in-late-presenting-hiv-positive-patients-beyond-progressive-multifocal-leukoencephalopathy
#13
S Mornese Pinna, E Scarvaglieri, M G Milia, D Imperiale, V Ghisetti, S Audagnotto, A Prochet, F Lipani, S Bonora, G Di Perri, A Calcagno
In the absence of effective prophylaxis and treatment, therapeutic options in HIV-positive patients with progressive multifocal leukoencephalopathy (PML) are limited to antiretroviral therapy: nevertheless, outcome is poor. We conducted a retrospective study (2009-2015) describing the outcome of 25 HIV-positive patients with detectable cerebrospinal fluid JC virus DNA: 14 had a probable PML while the others had evidence of other inflammatory central nervous system (CNS) affecting disorders. In the former group, 6-month mortality was 45...
July 5, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/28679849/mendelian-genes-and-risk-of-intracerebral-hemorrhage-and-small-vessel-ischemic-stroke-in-sporadic-cases
#14
Michael Chong, Martin O'Donnell, Vincent Thijs, Antonio Dans, Patricio López-Jaramillo, Diego Gómez-Arbeláez, Charles Mondo, Anna Czlonkowska, Marta Skowronska, Shahram Oveisgharan, Salim Yusuf, Guillaume Paré
BACKGROUND AND PURPOSE: Mendelian strokes are rare genetic disorders characterized by early-onset small-vessel stroke. Although extensively studied among families with syndromic features, whether these genes affect risk among sporadic cases is unknown. METHODS: We sequenced 8 genes responsible for Mendelian stroke in a case-control study of sporadic stroke cases (≤70 years). Participants included 1251 primary stroke cases of small-vessel pathology (637 intracerebral hemorrhage and 614 small-vessel ischemic stroke cases) and 1716 controls from the INTERSTROKE study (Study of the Importance of Conventional and Emerging Risk Factors of Stroke in Different Regions and Ethnic Groups of the World)...
July 5, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28674518/brain-susceptibility-changes-in-a-patient-with-natalizumab-related-progressive-multifocal-leukoencephalopathy-a-longitudinal-quantitative-susceptibility-mapping-and-relaxometry-study
#15
Giuseppe Pontillo, Sirio Cocozza, Roberta Lanzillo, Pasquale Borrelli, Anna De Rosa, Vincenzo Brescia Morra, Enrico Tedeschi, Giuseppe Palma
BACKGROUND: Brain MRI plays an essential role in both diagnosis and follow-up of the JC virus infection of the brain. Recently, MR studies with susceptibility-weighted imaging (SWI) sequences have shown hypointensities in U-fibers adjacent to white matter (WM) lesions of progressive multifocal leukoencephalopathy (PML). This finding has been confirmed with the use of quantitative susceptibility mapping (QSM), allowing to hypothesize a paramagnetic effect in these regions. Here, we report the first longitudinal assessment of QSM and R2* maps in natalizumab-associated PML to evaluate serial changes in susceptibility contrast images and their role in PML diagnosis and follow-up...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28673863/mpv17-hepatocerebral-mitochondrial-dna-depletion-syndrome-presenting-as-acute-flaccid-paralysis-a-case-report
#16
Anjan Pyal, Arumugam Paramasivam, Angamuthu Kannan Meena, Velpula Bhagya Bhavana, Kumarasamy Thangaraj
Mutations in human MPV17 have been reported in patients with severe mitochondrial DNA (mtDNA) depletion manifesting as early childhood onset failure to thrive, hypoglycemia, encephalopathy and progressive liver failure. We describe an 11 year old girl, born to consanguineous parents, who presented with rapidly progressive weakness of all 4 limbs with symmetrical proximal and distal weakness, gastrointestinal disease and leukoencephalopathy. Genetic analysis of the patient revealed a homozygous pathogenic mutation c...
June 30, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28671726/phenotypic-spectrum-of-mutations-in-iba57-a-candidate-gene-for-cavitating-leukoencephalopathy
#17
Ming Liu, Jie Zhang, Zhongbin Zhang, Ling Zhou, Yuwu Jiang, Jingmin Wang, Jiangxi Xiao, Ye Wu
IBA57 is involved in the biogenesis of mitochondrial [4Fe-4S] proteins. Eighteen cases with IBA57 mutations have been reported to date. We described a novel phenotype in 11 children with cavitating leukoencephalopathy and summarized the phenotypic spectrum of IBA57 mutations. The median age of onset was 9 months, with an initial presentation of motor regression. Deterioration of neurological function reached its peak within 4 months. The median interval between onset and last follow-up was 2.9 years (0.4-10...
July 3, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28670086/posterior-reversible-leukoencephalopathy-syndrome-after-kratom-ingestion
#18
Austin Castillo, J Drew Payne, Kenneth Nugent
Posterior reversible encephalopathy syndrome has been associated with hypertension, preeclampsia, cancer chemotherapy, and drugs of abuse, such as amphetamine and methamphetamine. We report a young man who suddenly developed severe headache, disorientation, and aphasia following ingestion of kratom and Adderall. Computed tomography and magnetic resonance imaging of his head revealed foci of vasogenic edema in the posterior occipital lobes, frontal lobes, and brainstem. In addition, he had a small area of hemorrhage in the left posterior occipital lobe...
July 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28665088/a-role-for-susceptibility-weighted-imaging-in-progressive-multifocal-leukoencephalopathy
#19
S M Yap, B Murray, T Lynch, E Kavanagh, P MacMahon
We report a radiologic finding on magnetic resonance imaging (MRI) of the brain of two cases of progressive multifocal leukoencephalopathy (PML) of hypointense signal of subcortical U-fibres on susceptibility weighted (SW) sequence. The first case is a 50-year-old man recently treated with chemotherapy including rituximab for non-Hodgkin's lymphoma. The second case is a 64-year-old woman with human immunodeficiency virus (HIV) infection. Iron deposition is a likely causative factor. We propose that SWI may be especially useful in the assessment of indeterminate cases to reduce the likelihood of a missed diagnosis of PML...
April 10, 2017: Irish Medical Journal
https://www.readbyqxmd.com/read/28656377/acute-toxic-leukoencephalopathy-associated-with-a-non-prescription-weight-loss-supplement-a-report-of-two-cases
#20
Cesar E Escamilla-Ocañas, Carlos R Cámara-Lemarroy, Leonel Cantú-Martinez, Héctor R Martínez
Weight loss dietary supplements are used with some frequency by an increasingly overweight population. Some products are not adequately regulated and may pose potential health risks. We report two new cases of acute toxic leukoencephalopathy (ATL) due to the use of a supplement marketed as a thermogenic weight loss aid. ATL is a heterogeneous clinic-radiological entity that has been associated with various compounds, such as chemotherapeutic drugs and immunomodulators. It is characterized by an often reversible periventricular and infratentorial demyelination...
June 27, 2017: Neurological Sciences
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