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Multisystem atrophy

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https://www.readbyqxmd.com/read/29867729/structural-and-functional-brain-mapping-correlates-of-impaired-eye-movement-control-in-parkinsonian-syndromes-a-systems-based-concept
#1
REVIEW
Martin Gorges, Hans-Peter Müller, Jan Kassubek
The investigation of the human oculomotor system by eye movement recordings provides an approach to behavior and its alterations in disease. The neurodegenerative process underlying parkinsonian syndromes, including Parkinson's disease (PD), progressive supranuclear palsy (PSP), and multisystem atrophy (MSA) changes structural and functional brain organization, and thus affects eye movement control in a characteristic manner. Video-oculography has been established as a non-invasive recording device for eye movements, and systematic investigations of eye movement control in a clinical framework have emerged as a functional diagnostic tool in neurodegenerative parkinsonism...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29770363/the-multifaceted-clinical-presentation-of-vcp-proteinopathy-in-a-greek-family
#2
George K Papadimas, George P Paraskevas, Thomas Zambelis, Chrisostomos Karagiaouris, Mara Bourbouli, Anastasia Bougea, Maggie C Walter, Nicolas U Schumacher, Sabine Krause, Elisabeth Kapaki
VCP-proteinopathy is a multisystem neurodegenerative disorder caused by mutations in valosin containing protein. Here, we report the first Greek case of VCP-proteinopathy in a 62 year old patient with a slowly progressing muscular weakness since his mid-40s and a severe deterioration during the last year. He also manifested dementia with prominent neuropsychiatric symptoms, including aggression, apathy, palilalia and obsessions. Brain MRI revealed frontal atrophy, while muscle MRI showed diffuse muscle atrophy...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29770362/study-of-anti-m%C3%A3-llerian-hormone-levels-in-patients-with-myotonic-dystrophy-type-1-preliminary-results
#3
Manuela Ergoli, Massimo Venditti, Raffaele Dotolo, Esther Picillo, Sergio Minucci, Luisa Politano
Myotonic dystrophy type 1 is a multisystemic disorder characterized by myotonia, muscle weakness and involvement of several organs and apparatus such as heart, lungs, eye, brain and endocrine system. Hypogonadism and reproductive abnormalities are frequently reported. A progressive testicular atrophy occurs in about 80% in the affected males leading to Leydig cell hyperproliferation and elevated basal follicle stimulating hormone (FSH) levels. Anti-Müllerian hormone (AMH) - a dimeric glycoprotein belonging to the super-family of transforming grow factor beta (TGF-beta) - is the earliest Sertoli cell hormone secreted in males and, together with inhibin B and FSH, is an important indicator of Sertoli cell function...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29719249/skeletal-muscle-specific-methyltransferase-mettl21c-trimethylates-p97-and-regulates-autophagy-associated-protein-breakdown
#4
Janica Lea Wiederstein, Hendrik Nolte, Stefan Günther, Tanja Piller, Martina Baraldo, Sawa Kostin, Wilhelm Bloch, Natalie Schindler, Marco Sandri, Bert Blaauw, Thomas Braun, Soraya Hölper, Marcus Krüger
Protein aggregates and cytoplasmic vacuolization are major hallmarks of multisystem proteinopathies (MSPs) that lead to muscle weakness. Here, we identify METTL21C as a skeletal muscle-specific lysine methyltransferase. Insertion of a β-galactosidase cassette into the Mettl21c mouse locus revealed that METTL21C is specifically expressed in MYH7-positive skeletal muscle fibers. Ablation of the Mettl21c gene reduced endurance capacity and led to age-dependent accumulation of autophagic vacuoles in skeletal muscle...
May 1, 2018: Cell Reports
https://www.readbyqxmd.com/read/29718201/perk-inhibition-delays-neurodegeneration-and-improves-motor-function-in-a-mouse-model-of-marinesco-sj%C3%A3-gren-syndrome
#5
Valentina Grande, Francesca Ornaghi, Liliana Comerio, Elena Restelli, Antonio Masone, Alessandro Corbelli, Daniele Tolomeo, Vanessa Capone, Jeffrey M Axten, Nicholas J Laping, Fabio Fiordaliso, Michele Sallese, Roberto Chiesa
Marinesco-Sjögren syndrome (MSS) is a rare, early-onset, autosomal recessive multisystem disorder characterized by cerebellar ataxia, cataracts and myopathy. Most MSS cases are caused by loss-of-function mutations in the gene encoding SIL1, a nucleotide exchange factor for the molecular chaperone BiP which is essential for correct protein folding in the endoplasmic reticulum. Woozy mice carrying a spontaneous Sil1 mutation recapitulate key pathological features of MSS, including cerebellar atrophy with degeneration of Purkinje cells, and progressive myopathy...
April 28, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29661694/descriptive-epidemiology-of-parkinsonism-in-the-canton-of-geneva-switzerland
#6
Vanessa Fleury, Pauline Brindel, Nicolas Nicastro, Pierre R Burkhard
OBJECTIVES: A large descriptive cross-sectional population-based prevalence study as well as a retrospective incidence study were undertaken to ascertain the frequency of Parkinson's Disease (PD) and other types of degenerative and non-degenerative parkinsonism in the Canton of Geneva, Switzerland. METHODS: An extensive case-finding approach including records from public hospitals, private neurologists and nursing homes was utilized. All patients with a diagnosis of parkinsonism established between 2003 and 2012 were included...
April 9, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29491329/-an-early-history-of-japanese-amyotrophic-lateral-sclerosis-als-related-diseases-and-the-current-development
#7
Koji Abe
The present review focuses an early history of Japanese amyotrophic lateral sclerosis (ALS)-related diseases and the current development. In relation to foreign previous reports, five topics are introduced and discussed on ALS with dementia, ALS/Parkinsonism dementia complex (ALS/PDC), familial ALS (FALS), spinal bulbar muscular atrophy (SBMA), and multisystem involvement especially in cerebellar system of ALS including ALS/SCA (spinocerebellar ataxia) crossroad mutation Asidan. This review found the great contribution of Japanese reports on the above five topics, and confirmed the great development of ALS-related diseases over the past 120 years...
March 28, 2018: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29482705/melas-a-complex-and-challenging-diagnosis
#8
Kumail Khandwala, Anwar Ahmed, Taha Sheikh
Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a rare multisystem disorder and is the most common maternally inherited mitochondrial disease. This condition has a special predilection for the nervous system and muscles. Typical findings on brain imaging include stroke-like areas, calcification of basal ganglia and brain atrophy. This accounts for the disease being, both clinically and radiologically, mistaken for ischemic stroke. The differentiation features from stroke include comparatively young age of the patients, site of the lesions, and relative overlap between the cerebral vasculature territories...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29459985/when-do-%C3%AE-synucleinopathies-start-an-epidemiological-timeline-a-review
#9
Rodolfo Savica, Boeve F Bradley, Michelle M Mielke
Importance: This article reviews the epidemiological evidence of features of α-synucleinopathies that precede clinical onset of disease, proposes a clinical timeline, and attempts to define the different premotor and clinical phenotypes associated with α-synucleinopathies. Observations: The pathological hallmarks of the α-synucleinopathies (Parkinson disease, Parkinson disease dementia, dementia with Lewy bodies, and multisystem atrophy) begin years before a clinical diagnosis...
April 1, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29388171/combined-membranous-nephropathy-and-tubulointerstitial-nephritis-as-a-rare-renal-manifestation-of-igg4-related-disease-a-case-based-literature-review
#10
Wei Zhang, Jeffrey H Glaze, David Wynne
IgG4-related disease (IgG4-RD) is a newly recognized immune-mediated multisystemic disease characterized by a fibro-inflammatory condition with tissue infiltration of IgG4-positive plasma cells and often associated with elevated serum IgG4 levels. Typical renal involvement of IgG4-RD presents as tubulointerstitial nephritis (TIN), membranous or membranoproliferative nephropathy. We are presenting a case with combined IgG4 membranous nephropathy and TIN, as well as a literature review on pathophysiology, diagnosis and treatment of IgG4-RD...
May 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29310369/mitochondrial-mutations-in-12s-rrna-and-16s-rrna-presenting-as-chronic-progressive-external-ophthalmoplegia-cpeo-plus-a-case-report
#11
Zhan-Yun Lv, Xue-Mei Xu, Xiao-Fu Cao, Qian Wang, Da-Fang Sun, Wen-Jing Tian, Yan Yang, Yu-Zhong Wang, Yan-Lei Hao
RATIONALE: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and this is called "CPEO plus." PATIENT CONCERNS: We report a 48-year-old woman exhibiting limb weakness, ptosis, ophthalmoparesis, and cerebellar dysfunctions...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29296619/4-hydroxybenzoic-acid-restores-coq-10-biosynthesis-in-human-coq2-deficiency
#12
Diran Herebian, Annette Seibt, Sander H J Smits, Richard J Rodenburg, Ertan Mayatepek, Felix Distelmaier
The clinical phenotypes of human CoQ10 -deficiency caused by COQ2 mutations range from fatal neonatal disease to adult-onset multisystem atrophy. So far, treatment options for these diseases are unsatisfactory. Here, we demonstrate that supplementation of 4-hydroxybenzoic acid (4-HBA) fully restores endogenous CoQ10 -biosynthesis in COQ2-deficient cell lines. This was accompanied by increased protein expression of CoQ10 -biosynthesis-enzymes as well as a rescue of cell viability during stress conditions. In silico analysis suggested a ligand transportation path for 4-HBA through the COQ2 protein towards the mitochondrial matrix side...
December 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29222831/a-review-of-structural-brain-abnormalities-in-pallister-killian-syndrome
#13
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...
January 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29207307/systemic-sclerosis-clinical-manifestations-anesthetic-and-orthopedic-considerations-in-a-patient
#14
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...
2018: 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
#15
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 2 disease-associated loci. OBJECTIVES: We sought to identify the genetic defect in these patients and characterize their immunologic cellular abnormalities. METHODS: Genetic, immunologic, protein, and cellular functional analyses were used to identify and characterize patient genetic deficiencies and aberrant patient cell behavior...
November 26, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29145189/rem-sleep-behavior-disorder
#16
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
#17
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...
December 2017: EBioMedicine
https://www.readbyqxmd.com/read/28984582/multiple-system-atrophy-an-oligodendroglioneural-synucleinopathy1
#18
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)...
2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28977448/optic-neuropathies-the-tip-of-the-neurodegeneration-iceberg
#19
REVIEW
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
#20
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
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