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Multisystem atrophy

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https://www.readbyqxmd.com/read/29222831/a-review-of-structural-brain-abnormalities-in-pallister-killian-syndrome
#1
Cathryn Poulton, Gareth Baynam, Clarissa Yates, Hamid Alinejad-Rokny, Simon Williams, Helen Wright, Karen J Woodward, Soruba Sivamoorthy, Joanne Peverall, Peter Shipman, David Ravine, John Beilby, Julian Ik-Tsen Heng
BACKGROUND: Pallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects. METHODS: We describe two patients with PKS, one of whom has bilateral perisylvian polymicrogyria (PMG), the other with macrocephaly, enlarged lateral ventricles and hypogenesis of the corpus callosum. We have also summarized the current literature describing brain abnormalities in PKS...
December 9, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29207307/systemic-sclerosis-clinical-manifestations-anesthetic-and-orthopedic-considerations-in-a-patient
#2
Obada Hasan, Muneeba Jessar, Muhammad Ashar, Shahryar Noordin, Tashfeen Ahmad
INTRODUCTION: Systemic sclerosis is a rare and progressive multisystem autoimmune disorder that is characterized pathologically by vascular abnormalities, connective tissue sclerosis and atrophy of skin and various internal organs (e.g., alimentary tract, lungs, heart, kidney, CNS), and autoantibodies. With an unknown etiology, Scleroderma is a complex polygenetic disease. A recent Genome Wide Association Study (GWAS) confirmed a strong association with the Major Histocompatibility Complex (MHC) and autoimmunity...
December 2, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29180244/dual-loss-of-p110%C3%AE-pi3-kinase-and-skap-knstrn-expression-leads-to-combined-immunodeficiency-and-multisystem-syndromic-features
#3
Nigel Sharfe, Ariana Karanxha, Harjit Dadi, Daniele Merico, David Chitayat, Jo-Anne Herbrick, Spencer Freeman, Sergio Grinstein, Chaim M Roifman
BACKGROUND: We previously reported a novel syndrome characterized by combined immunodeficiency associated with severe developmental defects - subsequently known as Roifman-Chitayat Syndrome (RCS; OMIM 613328). Linkage analysis identified two disease-associated loci. OBJECTIVE: To identify the genetic defect in these patients and characterize their immunological cellular abnormalities. METHODS: Genetic, immunological, protein and cellular functional analyses were used to identify and characterize patient genetic deficiencies and aberrant patient cell behaviour...
November 24, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29145189/rem-sleep-behavior-disorder
#4
Claudio L Bassetti, Panagiotis Bargiotas
Rapid eye movement sleep behavior disorder (RBD) is a brain disorder, characterized by the dream enactment during rapid eye movement (REM) sleep due to a lack of physiologic muscle atonia and increased muscle twitching. Schenk was the first to describe this disorder in 1986; however, few authors reported in the 1970-1980s loss of physiological muscle atonia combined with dream enactment in the course of brainstem disorders and as a consequence of alcoholism and antidepressant treatment. RBD affects less than 1% of the adult population, but can be found in up to 25-50% of neurodegenerative disorders including Parkinson's disease, multisystem atrophy, and dementia with Lewy body...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29137891/human-leukocyte-antigen-hla-and-gulf-war-illness-gwi-hla-drb1-13-02-spares-subcortical-atrophy-in-gulf-war-veterans
#5
Lisa M James, Peka Christova, Brian E Engdahl, Scott M Lewis, Adam F Carpenter, Apostolos P Georgopoulos
BACKGROUND: Gulf War Illness (GWI) is a multisystem disorder that has affected a substantial number of veterans who served in the 1990-91 Gulf War. The brain is prominently affected, as manifested by the presence of neurological, cognitive and mood symptoms. We reported previously on the protective role of six Human Leukocyte Antigen (HLA) alleles in GWI (Georgopoulos et al., 2016) and their association with regional brain function (James et al., 2016). More recently, we reported on the presence of subcortical brain atrophy in GWI (Christova et al...
November 9, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28984582/multiple-system-atrophy-an%C3%A2-oligodendroglioneural-synucleinopathy
#6
Kurt A Jellinger
Multiple system atrophy (MSA) is an orphan, fatal, adult-onset neurodegenerative disorder of uncertain etiology that is clinically characterized by various combinations of parkinsonism, cerebellar, autonomic, and motor dysfunction. MSA is an α-synucleinopathy with specific glioneuronal degeneration involving striatonigral, olivopontocerebellar, and autonomic nervous systems but also other parts of the central and peripheral nervous systems. The major clinical variants correlate with the morphologic phenotypes of striatonigral degeneration (MSA-P) and olivopontocerebellar atrophy (MSA-C)...
September 26, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28977448/optic-neuropathies-the-tip-of-the-neurodegeneration-iceberg
#7
Valerio Carelli, Chiara La Morgia, Fred N Ross-Cisneros, Alfredo A Sadun
The optic nerve and the cells that give origin to its 1.2 million axons, the retinal ganglion cells (RGCs), are particularly vulnerable to neurodegeneration related to mitochondrial dysfunction. Optic neuropathies may range from non-syndromic genetic entities, to rare syndromic multisystem diseases with optic atrophy such as mitochondrial encephalomyopathies, to age-related neurodegenerative diseases such as Alzheimer's and Parkinson's disease where optic nerve involvement has, until recently, been a relatively overlooked feature...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28940506/molecular-and-clinical-spectra-of-fbxl4-deficiency
#8
Ayman W El-Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa A Faqeih, Ali Al Asmari, Mohammed A M Saleh, Mohammed A O Elamin, Majid Alfadhel, Fowzan S Alkuraya, Mais Hashem, Mazhor S Aldosary, Rawan Almass, Faten B Almutairi, Maysoon Alsagob, Mohammed Al-Owain, Shirin Al-Sharfa, Zuhair N Al-Hassnan, Zuhair Rahbeeni, Mohammed A Al-Muhaizea, Nawal Makhseed, Gretchen K Foskett, David A Stevenson, Natalia Gomez-Ospina, Chung Lee, Richard G Boles, Samantha A Schrier Vergano, Saskia B Wortmann, Wolfgang Sperl, Thomas Opladen, Georg F Hoffmann, Maja Hempel, Holger Prokisch, Bader Alhaddad, Johannes A Mayr, Wenyaw Chan, Namik Kaya, Lee-Jun C Wong
F-box and leucine-rich repeat protein 4 (FBXL4) is a mitochondrial protein whose exact function is not yet known. However, cellular studies have suggested that it plays significant roles in mitochondrial bioenergetics, mitochondrial DNA (mtDNA) maintenance, and mitochondrial dynamics. Biallelic pathogenic variants in FBXL4 are associated with an encephalopathic mtDNA maintenance defect syndrome that is a multisystem disease characterized by lactic acidemia, developmental delay, and hypotonia. Other features are feeding difficulties, growth failure, microcephaly, hyperammonemia, seizures, hypertrophic cardiomyopathy, elevated liver transaminases, recurrent infections, variable distinctive facial features, white matter abnormalities and cerebral atrophy found in neuroimaging, combined deficiencies of multiple electron transport complexes, and mtDNA depletion...
September 22, 2017: Human Mutation
https://www.readbyqxmd.com/read/28917055/identification-of-genetic-disorders-causing-disruption-of-selenoprotein-biosynthesis
#9
Erik Schoenmakers, Krishna Chatterjee
Disorders of selenoprotein biosynthesis in humans, due to mutations in three genes (SECISBP2, TRU-TCA1-1, and SEPSECS) involved in the selenocysteine insertion pathway, have been described. Patients with SECISBP2 and TRU-TCA1-1 defects manifest a multisystem disorder with a biochemical signature of abnormal thyroid function tests due to the impaired activity of deiodinase selenoenzymes, myopathic features linked to SEPN1 deficiency and phenotypes resulting from increased levels of reactive oxygen species attributable to lack of antioxidant selenoenzymes...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28780180/neuropathology-of-parkinson-disease
#10
Dennis W Dickson
INTRODUCTION: Parkinson's disease (PD) is characterized by bradykinesia, rigidity, postural instability and tremor. Several pathologic processes can produce this syndrome, but neurodegeneration accompanied by neuronal inclusions composed of α-synuclein (Lewy bodies) is considered the typical pathologic correlate of PD. METHODS: The neuropathologic features of PD are reviewed based upon personal experience and review of the literature. Molecular pathology of PD is summarized from cell biological and animal studies...
August 1, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28724585/effect-of-gluten-free-diet-on-cerebellar-mr-spectroscopy-in-gluten-ataxia
#11
Marios Hadjivassiliou, Richard A Grünewald, David S Sanders, Priya Shanmugarajah, Nigel Hoggard
OBJECTIVE: To evaluate the effect of gluten free diet (GFD) on magnetic resonance spectroscopy (MRS) of the cerebellum in patients with gluten ataxia (GA). METHODS: Patients with GA, defined as sporadic ataxia with positive antigliadin antibodies in the absence of an alternative cause, routinely undergo MRS at baseline and after the introduction of GFD as part of their clinical care. We present our experience of the effect of GFD on MRS of the cerebellum. RESULTS: A total of 117 consecutive patients with GA were included in this report...
August 15, 2017: Neurology
https://www.readbyqxmd.com/read/28652416/mitochondrial-membrane-dynamics-and-inherited-optic-neuropathies
#12
REVIEW
Eleni Bagli, Anastasia K Zikou, Niki Agnantis, Georgios Kitsos
Inherited optic neuropathies are a genetically diverse group of disorders mainly characterized by visual loss and optic atrophy. Since the first recognition of Leber's hereditary optic neuropathy, several genetic defects altering primary mitochondrial respiration have been proposed to contribute to the development of syndromic and non-syndromic optic neuropathies. Moreover, the genomics and imaging revolution in the past decade has increased diagnostic efficiency and accuracy, allowing recognition of a link between mitochondrial dynamics machinery and a broad range of inherited neurodegenerative diseases involving the optic nerve...
July 2017: In Vivo
https://www.readbyqxmd.com/read/28634886/subcortical-brain-atrophy-in-gulf-war-illness
#13
Peka Christova, Lisa M James, Brian E Engdahl, Scott M Lewis, Adam F Carpenter, Apostolos P Georgopoulos
Gulf War Illness (GWI) is a multisystem disorder that has affected a substantial number of veterans who served in the 1990-1991 Gulf War. The brain is prominently affected, as manifested by the presence of neurological, cognitive and mood symptoms. Although brain dysfunction in GWI has been well documented (EBioMedicine 12:127-32, 2016), abnormalities in brain structure have been debated. Here we report a substantial (~10%) subcortical brain atrophy in GWI comprising mainly the brainstem, cerebellum and thalamus, and, to a lesser extent, basal ganglia, amygdala and diencephalon...
June 20, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/28575052/myogenic-differentiation-of-vcp-disease-induced-pluripotent-stem-cells-a-novel-platform-for-drug-discovery
#14
Katrina J Llewellyn, Angèle Nalbandian, Lan N Weiss, Isabela Chang, Howard Yu, Bibo Khatib, Baichang Tan, Vanessa Scarfone, Virginia E Kimonis
Valosin Containing Protein (VCP) disease is an autosomal dominant multisystem proteinopathy caused by mutations in the VCP gene, and is primarily associated with progressive muscle weakness, including atrophy of the pelvic and shoulder girdle muscles. Currently, no treatments are available and cardiac and respiratory failures can lead to mortality at an early age. VCP is an AAA ATPase multifunction complex protein and mutations in the VCP gene resulting in disrupted autophagic clearance. Due to the rarity of the disease, the myopathic nature of the disorder, ethical and practical considerations, VCP disease muscle biopsies are difficult to obtain...
2017: PloS One
https://www.readbyqxmd.com/read/28567029/long-term-developmental-trends-of-pediatric-mitochondrial-diseases-the-five-stages-of-developmental-decline
#15
Soyong Eom, Young-Mock Lee
Mitochondrial diseases (MDs) are a heterogeneous group of progressive multisystem disorders caused by impaired mitochondrial function. This study aimed to evaluate the clinical course and long-term development of 53 pediatric patients with MDs. Developmental function was evaluated at nine time points (two pre-diagnosis, one at diagnosis, and six post-diagnosis), with the developmental quotient (DQ) from the Korean infant and child development test (KICDT) assessing a child's developmental age (rather than chronological age)...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28495941/pontomesencephalic-atrophy-and-postural-instability-in-wilson-disease
#16
J Kalita, S Naik, S K Bhoi, U K Misra, A Ranjan, S Kumar
BACKGROUND AND PURPOSE: The MR Parkinsonism index helps in differentiating progressive supranuclear palsy from Parkinson disease and multisystem atrophy. Pontomesencephalic involvement is common in neurologic Wilson disease, but there is no prior study evaluating the MR Parkinsonism index and its indices in Wilson disease. We report the MR Parkinsonism index and its indices in Wilson disease and correlate these changes with clinical severity and postural reflex. MATERIALS AND METHODS: Thirteen individuals with neurologic Wilson disease were included, and their clinical details, including neurologic severity, postural reflex abnormality, and location of signal changes on MR imaging, were noted...
May 11, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28401645/body-composition-and-micronutrient-deficiencies-in-patients-with-an-acute-exacerbation-of-chronic-obstructive-pulmonary-disease
#17
Charith Horadagoda, Timothy Dinihan, Mary Roberts, Kristina Kairaitis
Chronic obstructive pulmonary disease (COPD) is a multisystem disorder. Abnormal body composition (BC) and low serum micronutrient levels contribute significantly to morbidity associated with acute exacerbations of COPD (AECOPD). The BC and serum levels of selected micronutrients were recorded in prospective, consecutive patients admitted to hospital with an AECOPD in Western Sydney. 94 patients were enrolled, 43% female, the average age was 69.8 ± 8.2years(SD). Admission spirometry revealed a mean spirometric ratio of 0...
April 12, 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28378518/autophagy-controls-the-pathogenicity-of-opa1-mutations-in-dominant-optic-atrophy
#18
Mariame Selma Kane, Jennifer Alban, Valérie Desquiret-Dumas, Naïg Gueguen, Layal Ishak, Marc Ferre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Guy Lenaers, Pascal Reynier, Arnaud Chevrollier
Optic Atrophy 1 (OPA1) gene mutations cause diseases ranging from isolated dominant optic atrophy (DOA) to various multisystemic disorders. OPA1, a large GTPase belonging to the dynamin family, is involved in mitochondrial network dynamics. The majority of OPA1 mutations encodes truncated forms of the protein and causes DOA through haploinsufficiency, whereas missense OPA1 mutations are predicted to cause disease through deleterious dominant-negative mechanisms. We used 3D imaging and biochemical analysis to explore autophagy and mitophagy in fibroblasts from seven patients harbouring OPA1 mutations...
October 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28374233/neurological-deficits-in-obstructive-sleep-apnea
#19
REVIEW
Luigi Ferini-Strambi, Giulia Elisabetta Lombardi, Sara Marelli, Andrea Galbiati
Obstructive sleep apnea (OSA) is the most common sleep-related breathing disorder characterized by repetitive episodes of complete or partial obstruction of the upper airway. The prevalence of this disorder is strictly dependent on its gravity. At ≥15 events/h apnea-hypopnea index (AHI), it ranges from 6 to 17% in the general population, with higher rates in men and increasing with age. The hypoxia induced by OSA severely affects the structure and function of blood vessels, culminating in mortality and morbidity...
April 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28371804/muscle-pathology-as-a-diagnostic-clue-to-allgrove-syndrome
#20
Jens Reimann, Nicolai Kohlschmidt, Karen Tolksdorf, Joachim Weis, Klaus Kuchelmeister, Andreas Roos
Allgrove or triple A syndrome is a rare autosomal recessive disorder that can present with a variable range of multi-system manifestations, including optic atrophy, cerebellar ataxia, upper and lower motoneuron signs and various neuropathic abnormalities. These cases are a diagnostic challenge, particularly when the eponymous combination of achalasia, Addisonianism and alacrima is incomplete. Therefore, it is in the differential diagnosis for multisystem conditions and should be known to pathologists who diagnose disorders of skeletal muscle...
May 1, 2017: Journal of Neuropathology and Experimental Neurology
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