Julius Hallervorden October 21, 1882 May 29, 1965 was a German physician and neuroscientist . In 1938, he became the head of the Neuropathology Department of the Kaiser Wilhelm Society Kaiser Wilhelm Institute for Brain Research . He was a member of the Nazi Party , and admitted to knowingly performing much of his controversial research on the brains of executed prisoners. Along with Hugo Spatz , he is credited with the discovery of Hallervorden Spatz syndrome now more commonly referred to as Pantothenate kinase associated neurodegeneration . ref cite journal title Eponyms and the Nazi Era Time to Remember and Time For Change last Strous first Rael D. coauthor Morris C. Edelman work Israel Medical Association Journal year 2007 month March volume 9 issue 3 pages 207 214 url http www.ima.org.il imaj ar07mar 24.pdf accessdate 2010 11 01 ref ref cite journal title Julius Hallervorden s wartime activities implications for science under dictatorship last Shevell first Michael coauthor J ergen Peiffer work Pediatr Neurol year 2001 month August volume 25 pages 162 165 accessdate 2010 11 01 pmid 11551747 issue 2 ref See also List of medical eponyms with Nazi associations References reflist Persondata name Hallervorden, Julius alternative names short description place of birth place of death date of birth October 21, 1882 date of death May 29, 1965 DEFAULTSORT Hallervorden, Julius Category 1882 births Category 1965 deaths Category Nazi human subject research Category Nazi physicians germany med bio stub de Julius Hallervorden pl Julius Hallervorden ... more details
Infobox Non profit Non profit name Huntington s Disease Society of Canada Non profit logo File Huntington Society of Canada logo.png Non profit type founded date 1973 location Kitchener, Ontario Kitchener , Ontario origins key people Bev Heim Myers CEO area served Canada product focus Care, support and research for Huntington s disease method revenue endowment num volunteers num employees num members owner Non profit slogan homepage www.huntingtonsociety.ca dissolved footnotes The Huntington Society of Canada HSC is a Nonprofit organization non profit organisation that supports people in Canada affected by the gene tic neurodegeneration neurodegenerative brain condition Huntington s disease HD . The HSC was founded in 1973 and is based in Kitchener, Ontario Kitchener , Ontario . ref name contact hsc cite web title Contact the HSC url http www.huntingtonsociety.ca english contact publisher HSC accessdate 11 December 2011 ref It delivers support services to patients and carers, provides educational resources and funds research into the development of Huntington s disease treatments. ref name hsc about cite web title About the HSC url http www.huntingtonsociety.ca english contact publisher HSC accessdate 11 December 2011 ref The HSC s logo depicts a stylized Hippeastrum Culture amaryllis flower, an internationally used symbol of the movement to combat HD. ref name amaryllis hsc cite web title Amaryllis campaign url http www.huntingtonsociety.ca english content ?page 80 publisher HSC ref ref name amaryllis hdani cite web title Amaryllis logo url http www.hdani.org.uk publisher HD Association Northern Ireland accessdate 11 December 2011 ref References reflist External links http www.huntingtonsociety.ca Huntington Society of Canada website http www.huntington assoc.com International Huntington Alliance Charity stub Category Health charities Category Huntington s disease ... more details
Image InnogeneticsBldg 080116.jpg thumb Innogenetics building in Zwijnaarde . Innogenetics NV is an international in vitro diagnostics company, with headquarters in Ghent , Belgium. The company develops and markets diagnostic assays in the fields of infectious diseases , oncology , neurodegeneration , transplantation and genetic testing , with a special focus on molecular diagnostics and multiparameter testing. The company was acquired in September 2010 by the Japanese Fujirebio Inc. Group. The CEO of Innogenetics NV is Christiaan De Wilde . History Innogenetics was founded on 18 July 1985, by Erik Tambuyzer , Hugo Van Heuverswyn and Rudi Mari n . In 1992 , the company launched the first commercial tests for cystic fibrosis in Europe INNO LiPA CFTR and in 1993 the first commercial test for Hepatitis C virus HCV genotyping worldwide INNO LiPA HCV . In 1995 , the first commercial Alzheimer s disease research test for Tau protein hTau was launched INNOTEST hTau Ag . In 1998 , the company launched the first commercial Alzheimer s disease research test for Amyloid and in 2002 the first commercial test for Hepatitis B virus HBV genotyping INNO LiPA HBV Genotyping . The company was one of the first biotech companies to be listed on a European stock exchange , in 1996 it was the first biotech company listed on EASDAQ, now NASDAQ Europe. Until 2008 Innogenetics had its shares traded on Euronext Brussels . Today Innogenetics NV is a member of the Fujirebio Inc. group, a Japanese daughter company of Miraca Holdings. Products Its products in the area of infectious diseases include screening and confirmation tests for HIV , HCV , HTLV and syphilis genotyping tests for HCV, HBV , HPV and mycobacteria and drug resistance tests for TB and HBV. Innogenetics also offers genetic testing products for cystic fibrosis associated with genetic risks tissue typing tests to determine the type of HLA and neurodegeneration products which include biomarkers for Alzheimer s disease . In the on ... more details
. 2005 Neurodegeneration and Prion Disease. Springer, USA. ISBN 0 387 23922 7. Kozlowski, H, Brown, D. R. and Valensin G. 2006 Metallochemistry of Neurodegeneration. Royal Society of Chemistry Publishing ... more details
Drugbox IUPAC name Dibenzo b,f oxepin 10 ylmethyl methyl prop 2 ynylamine image Omigapil skeletal.svg width alt caption Clinical data tradename Drugs.com MedlinePlus pregnancy AU A B1 B2 B3 C D X pregnancy US A B C D X pregnancy category legal AU S2, S3, S4, S5, S6, S7, S8, S9 or Unscheduled legal CA OTC, Rx only, Schedule I, II, III, IV, V, VI, VII, VIII legal UK GSL, P, POM, CD, CD Lic, CD POM, CD No Reg POM, CD Benz POM, CD Anab POM or CD Inv POM legal US OTC Rx only Schedule I, II, III, IV, V legal status Investigational routes of administration Pharmacokinetic data bioavailability protein bound metabolism elimination half life excretion Identifiers CAS number 181296 84 4 ATCvet ATC prefix None ATC suffix UNII 5V14HD0N4Q PubChem 6419718 DrugBank synonyms TCH346, CGP3466B Chemical data C 19 H 17 N 1 O 1 molecular weight 275.13 g mol smiles C 3c1ccccc1Oc2ccccc2C 3CN C CC C StdInChI 1S C19H17NO c1 3 12 20 2 14 16 13 15 8 4 6 10 18 15 21 19 11 7 5 9 17 16 19 h1,4 11,13H,12,14H2,2H3 StdInChIKey QLMMOGWZCFQAPU UHFFFAOYSA N Omigapil TCH346 is a pharmaceutical drug drug that was developed by Novartis and tested in clinical trial s for its ability to help treat Parkinson s disease ref cite doi 10.1016 S1474 4422 06 70602 0 ref and amyotrophic lateral sclerosis ALS . ref ClinicalTrialsGov NCT00036413 A 12 Week, Multicenter, Safety and Dose Ranging Study of 3 Oral Doses of TCH346 in Patients With Amyotrophic Lateral Sclerosis ref The development for ALS has been terminated due to lack of benefit, but Santhera Pharmaceuticals bought the compound for development for the treatment of congenital muscular dystrophy . ref http www.mdausa.org research 070813Santhera.html Santhera to Test Compound in CMD ref ref cite pmid 21674808 ref Omigapil was first synthesized at Ciba Geigy , Basel, Switzerland. It is being used as mono maleate salt. The compound displayed cell rescuing effects in various models of apoptotic neuronal death, as well as in rodent and non rodent animal models of ... more details
Infobox journal title Rejuvenation Research cover File Rejuvenation Research.jpg 150px editor Aubrey de Grey discipline Life extension Antiaging formernames Journal of Anti Aging Medicine abbreviation publisher Mary Ann Liebert, Inc. Mary Ann Liebert country United States frequency Bimonthly history 1998 present openaccess license impact 4.225 impact year 2010 website http www.liebertpub.com publication.aspx?pub id 127 link1 http www.liebertonline.com rej link1 name Archives link2 link2 name JSTOR OCLC 54674277 LCCN 2004214717 CODEN ISSN 1549 1684 eISSN 1557 8577 boxwidth Rejuvenation Research is a Interdisciplinarity multidisciplinary peer review peer reviewed bimonthly scientific journal published by Mary Ann Liebert, Inc. Mary Ann Liebert that investigates Rejuvenation aging rejuvenation therapies . The editor in chief is Aubrey de Grey . The journal addresses such issues as circulatory system cardiovascular aging, Biological immortality cell immortalization and senescence , cloning Embryonic stem cell ESC s, DNA repair DNA damage repair , growth factor s, immunology , invertebrate Maximum life span lifespan , neurodegeneration , tissue engineering , public policy , gene targeting, gene therapy , and genomics . Several authors have noted that Rejuvenation Research has an unusual focus, calling it from a heroic effort to jump start research on postponing or slowing human aging ref Michael Robertson Rose 2005 . The long tomorrow how advances in evolutionary biology can help us postpone aging. Page 148. Oxford University Press. ISBN 0195179390. ref to somewhat fringy ref Joseph Hooper 2005 The prophet of immortality. Popular Science 266 1 72. ref or on the fringe of gerontology . ref Courtney E. Mykytyn 2008 . Medicalizing the optimal Anti aging medicine and the quandary of intervention. Journal of Aging Studies 22 4 313 321. ref Abstracting and indexing Rejuvenation Research is abstracted and indexed in MEDLINE Current Contents Clinical Medicine Science Citation In ... more details
Infobox Disease Name PAGENAME Image Gray672.png Caption Diagram of the principal fasciculi of the spinal cord. In subacute combined degeneration of spinal cord, the combined refers to the fact that the dorsal column s and lateral corticospinal tract s are both affected, in contrast to tabes dorsalis which is selective for the dorsal columns. DiseasesDB 12591 ICD10 ICD10 G 32 0 g 30 , ICD10 E 53 8 e 50 ICD9 ICD9 336.2 , ICD9 266.2 ICDO OMIM MedlinePlus 000723 eMedicineSubj eMedicineTopic MeshID D052879 Subacute combined degeneration of spinal cord , also known as Ludwig Lichtheim Lichtheim s disease, ref WhoNamedIt synd 492 ref ref L. Lichtheim. Zur Kenntnis der pernici sen An mie. Verhandlungen des Deutschen Kongress f r innere Medizin, 1889, 6 84 96. 42 1887. ref refers to degeneration of the posterior and lateral columns of the spinal cord as a result of vitamin B12 deficiency vitamin B sub 12 sub deficiency most common , vitamin E deficiency . It is usually associated with pernicious anemia . Presentation The pathological findings of subacute combined degeneration consist of patchy losses of myelin in the dorsal and lateral columns. Patients present with weakness of legs, arms, trunk, tingling and numbness that progressively worsens. Vision changes and change of mental state may also be present. Bilateral spastic paresis may develop and pressure, vibration and touch sense are diminished. A positive Babinski sign may be seen. Prolonged deficiency of vitamin B12 vitamin B sub 12 sub leads to irreversible nervous system damage. If someone is deficient in vitamin B sub 12 sub and folic acid, the vitamin B sub 12 sub deficiency must be treated first to avoid precipitating subacute combined degeneration of the cord. Treatment Therapy with vitamin B sub 12 sub results in partial to full recovery, depending on the duration and extent of neurodegeneration . References reflist External links http www.neuropathologyweb.org chapter8 chapter8Nutritional.html http www.macrorad ... more details
Infobox university logo Image Pennington Biomedical Research Center logo.png name Pennington Biomedical Research Center established 1981 staff approximately 600 city Baton Rouge state Louisiana website http www.pbrc.edu www.pbrc.edu The Pennington Biomedical Research Center , located in Baton Rouge, Louisiana , is a campus of the Louisiana State University System and conducts both clinical and basic research. According to its website, its mission is to promote healthier lives through research and education in nutrition and preventive medicine. ref http www.pbrf.org aboutus.html Pennington Biomedical Research Foundation About Us ref It is the largest academically based nutrition research center in the world, with the greatest number of obesity researchers on faculty. The Center s nearly 600 employees occupy several buildings on the convert 234 acre km2 sing on campus. The center was designed by the Baton Rouge architect John Desmond . Research Priorities The comprehensive research program at the Pennington Biomedical Research Center focuses on ten research program areas Epidemiology and Prevention, Physical Activity and Health, Cancer, Diabetes, Obesity, Neurodegeneration, Genomics and Molecular Genetics, Stem Cell and Developmental Biology, Neurobiology, and Nutrient Sensing and Signaling. Researchers in these divisions rely on the latest molecular, physiological, clinical, behavioral, and bioinformatics technologies with the ultimate goal of preventing common diseases such as heart disease, diabetes, hypertension, and cancer. History In 1980, Baton Rouge oilman and philanthropist C.B. Doc Pennington and his wife, Irene, provided 125 million to fund construction of the nutritional research center. With a U.S. Department of Defense contract and funding from the Louisiana Public Facilities Authority, Governor Buddy Roemer proclaimed the official opening of the Center in 1988. Dr George Bray, a renowned obesity researcher, was recruited to be the first executive direct ... more details
Infobox scientist name Paula Isabel da Silva Moreira image Paula moreira.jpg image size 220px caption Moreira receiving 2008 L oreal Prize. birth date birth date and age 1975 01 04 mf yes birth place France residence Coimbra, Portugal citizenship Portugal ethnicity Portugal Portuguese field Neurology , Pathology work institutions University of Coimbra , Case Western Reserve University alma mater University of Coimbra Ph.D., 2007 doctoral advisor George Perry neuroscientist George Perry academic advisors Catarina Oliveira known for Discoveries concerning mitochondiral oxidation in Alzheimer s disease awards 2008 L oreal Prize, Calouste Gulbenkian Foundation Stimulus for Research Prize 2003 Paula Isabel da Silva Moreira born January 4, 1975 in France is a neuroscientist and Assistant Professor of Physiology at the University of Coimbra . Moreira is recognized in the field of Alzheimer s disease research particularly for her work on bioenergetics. Biography Moreira received her PhD in Biomedical Sciences from University of Coimbra in 2007. She is distinguished as one of the top neuroscientists in Portugal. Research focus Moreira s research is primarily focused on the impact of neurodegenerative conditions on brain function with special focus on bioenergetics. The physiologic process of aging and the pathologic process of diabetes have also been studied by Moreira as important risk factors for neurodegeneration. Other Moreira is Senior Editor of Journal of Alzheimer s Disease and recipient of Stimulus for Research prize in 2003 by the Calouste Gulbenkian Foundation . She also received the L Oreal for Women in Science award 2008 supported by L Oreal Portugal UNESCO Foundation for Science and Technology FCT . Reflist External links http www.alzforum.org com mem detail.asp?id 7BD5EC5CAA 2DA534 2D4708 2D9514 2DDD2960D9D7CA 7D Alzheimer Research Forum Profile http neurotree.org neurotree tree.php?pid 9525&fontsize 3&cnodecount 3&pnodecount 8 Neurotree.org, Scientific Lineage ... more details
In biochemistry, Docosanoids are lipid signaling signaling molecules made by oxygenation of twenty two carbon essential fatty acids, EFAs , especially Docosahexaenoic acid DHA . They include some resolvins and the docosatriene s. Docosatrienes contain conjugated triene structures generated from DHA as a defining feature. ref name Serhan cite journal author Serhan CN title Novel eicosanoid and docosanoid mediators resolvins, docosatrienes, and neuroprotectins journal Current opinion in clinical nutrition and metabolic care volume 8 issue 2 pages 115 21 year 2005 pmid 15716788 doi 10.1097 00075197 200503000 00003 ref Neuroprotectins The protectin s comprise docosatrienes and resolvins of the D series that are both neuroprotective and anti inflammatory. ref name Bazan cite journal author Bazan NG title The onset of brain injury and neurodegeneration triggers the synthesis of docosanoid neuroprotective signaling journal Cell. Mol. Neurobiol. volume 26 issue 4 6 pages 901 13 year 2006 pmid 16897369 doi 10.1007 s10571 006 9064 6 ref Neuroprotectin Neuroprotectin D1 is formed in retinal pigment epithelial cells when they are confronted with oxidative stress, in the brain during experimental stroke, and in the human brain from Alzheimer s disease patients as well as in human brain cells in culture. Neuroprotectin D1 displays potent anti inflammatory and neuroprotective bioactivity. ref name Bazan2 cite journal author Bazan NG title Omega 3 fatty acids, pro inflammatory signaling and neuroprotection journal Current opinion in clinical nutrition and metabolic care volume 10 issue 2 pages 136 41 year 2007 pmid 17285000 doi 10.1097 MCO.0b013e32802b7030 ref These substances are extremely potent. Neuroprotectin D1 and the 17S series resolvins are potent into the picomolar range. ref name Hong cite journal author Hong S, Gronert K, Devchand PR, Moussignac RL, Serhan CN title Novel docosatrienes and 17S resolvins generated from docosahexaenoic acid in murine brain, human blood, and ... more details
Infobox scientist name Christian Haass image Replace this image male.svg image size 150px caption Christian Haass birth date 19 December 1960 birth place Mannheim death date death place residence citizenship nationality Germany German ethnicity field biochemistry br neuroscience work institutions Ludwig Maximilians Universit t M nchen alma mater doctoral advisor doctoral students known for alzheimer disease author abbrev bot author abbrev zoo influences influenced prizes Gottfried Wilhelm Leibniz Prize br Metropolitan Life Insurance Company MetLife Award religion footnotes signature Christian Haass born December 19, 1960 in Mannheim, Germany is a German biochemist who specializes in metabolic biochemistry and neuroscience . Haass studied biology in Heidelberg from 1981 to 1985. From 1990 on he was a postdoc in the lab of Prof. Dennis Selkoe at Harvard Medical School and worked there from 1993 to 1995 as assistant professor . Afterwards he returned to Germany as professor of molecular biology at the central institute for mental health. In 1999 he was offered a chair at the Ludwig Maximilians University in Munich at the medical faculty. The emphasis of his work is in the molecular biology and cell biology of Alzheimer s disease and Parkinson s disease . Among other awards, he has won the Gottfried Wilhelm Leibniz Prize Leibniz Prize and the Metropolitan Life Insurance Company MetLife Award for Medical Research in Alzheimer s Disease. Sources http www.abi.med.lmu.de Adolf Butenandt Institute Ludwig Maximilians University of Munich http www.med.uni muenchen.de haass Laboratory for Neurodegenerative Disease Research http sfb596.web.med.uni muenchen.de Collaborative Research Center 596 Molecular Mechanisms of Neurodegeneration http www.ncbi.nlm.nih.gov sites entrez?term haass c Publications Persondata Metadata see Wikipedia Persondata . NAME Haass, Christian ALTERNATIVE NAMES SHORT DESCRIPTION DATE OF BIRTH 19 December 1960 PLACE OF BIRTH Mannheim DATE OF DEATH PLACE OF D ... more details
& E and de Olmos cupric staining methodologies in a variety of neurotoxicity neurotoxic models of neurodegeneration ... suggest that fluoro jade is a reliable marker of neurodegeneration. ref name flj Larry Schmued suggests ... in the mouse Technical aspects and patterns of Fluoro Jade evident neurodegeneration journal Brain ... more details
Infobox journal title Neural Regeneration Research cover editor Kwok Fai So, Xiao Ming Xu discipline Neurology , neuroscience , neural stem cell s former names abbreviation Neural Regener. Res. publisher Publishing House of Neural Regeneration Research country China frequency Biweekly history 2006 present openaccess Yes license impact 0.180 impact year 2010 website http www.nrronline.org link1 http www.crter.org sites MainSite List 2 2442.html link1 name Online archive link2 link2 name JSTOR OCLC 173468424 LCCN CODEN NRREBM ISSN 1673 5374 eISSN 1876 7958 Neural Regeneration Research is a Peer review peer reviewed scientific journal covering research on neuroregeneration and stem cell s. Topics covered include neural stem cell s, nerve tissue engineering , gene therapy , neurodegeneration neurodegenerative diseases , and traditional Chinese medicine . It was established in 2006 and the Editor in chief editors in chief are Kwok Fai So University of Hong Kong and Xiao Ming Xu Indiana University Bloomington Indiana University . The journal publishes the following types of papers research and reports, techniques and methods, investigation and analysis, meta analysis, evidence based case reports, commentaries review, and case reports. ref cite web url http oa.crter.org nrren ch first menu.aspx?parent id 2008111280152001 title Instructions to Authors for Neural Regeneration Research in 2010 format work accessdate 2010 12 26 ref Abstracting and indexing The journal is abstracted and indexed in BIOSIS Previews , Chemical Abstracts Service Chemical Abstracts , EMBASE Excerpta Medica , Institute of Scientific & Technical Information of China , Chinese Science Citation Database , Scopus , and the Science Citation Index Science Citation Index Expanded . ref cite web url http oa.crter.org nrren ch first menu.aspx?parent id 2008111280139001 title Introduction to Journal of Neural Regeneration Research format work accessdate 2010 12 26 ref According to the Journal Citation Reports ... more details
File UCL Portico Building.jpg right 300px thumb UCL Portico File UCL Gower Street.jpg right 300px thumb The Cruciform Building The Wolfson Institute for Biomedical Research at UCL is an academic department of the UCL Faculty of Biomedical Sciences Faculty of Biomedical Sciences of University College London located in London , United Kingdom . The Institute is situated in the Cruciform Building , formerly the main building of University College Hospital , in the Bloomsbury district of Central London . ref http www.ucl.ac.uk slms divisions institutes ref Originally named the Cruciform Project , its aim is to facilitate the interface between fundamental biological research and its application both to the discovery of new medicines and to clinical practice. The Institute now comprises more than 200 scientists, many of whom are of international standing. ref cite web url http www.ucl.ac.uk wibr introduction index.htm title Introduction author Salvador Moncada ref History WIBR was established in 1995 as an Institute within UCL based in the Cruciform building, which underwent a 50 million renovation in order to create a modern infrastructure. Substantial grants to carry out the work were obtained from a number of funding bodies, notably The Wellcome Trust, the Higher Education Funding Council for England and The Wolfson Foundation and Charitable Family Trust. ref http www.ucl.ac.uk wibr building wolfson index.htm ref The Institute director has been Prof. Salvador Moncada since 1995. ref http www.ucl.ac.uk wibr research mito sm index.htm ref Research Research areas of the Institute include Biological and medicinal chemistry Cardiovascular research Developmental neuroscience DNA replication and human disease Intensive care medicine Molecular mechanisms of cancer Nitric oxide physiology and pathophysiology Neuroscience neural computation, neural signalling, neural plasticity, neurodegeneration and neurochemistry Oncogenic receptor signalling Stem cell biology In the 2008 Rese ... more details
PBB geneid 101 A Disintegrin and metalloproteinase domain containing protein 8 is an enzyme that in humans is encoded by the ADAM8 gene . ref name pmid9126482 cite journal author Yoshiyama K, Higuchi Y, Kataoka M, Matsuura K, Yamamoto S title CD156 human ADAM8 expression, primary amino acid sequence, and gene location journal Genomics volume 41 issue 1 pages 56 62 year 1997 month May pmid 9126482 pmc doi 10.1006 geno.1997.4607 ref ref name entrez cite web title Entrez Gene ADAM8 ADAM metallopeptidase domain 8 url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 101 accessdate ref The PBB Summary template is automatically maintained by Protein Box Bot. See Template PBB Controls to Stop updates. PBB Summary section title summary text This gene encodes a member of the ADAM a disintegrin and metalloprotease domain family. Members of this family are membrane anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell cell and cell matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration. ref name entrez See also Cluster of differentiation References reflist Further reading refbegin 2 PBB Further reading citations cite journal author Yamamoto S title ADAM family proteins in the immune system journal Immunol. Today volume 20 issue 6 pages 278 84 year 1999 pmid 10354553 doi 10.1016 S0167 5699 99 01464 4 author separator , author2 Higuchi Y author3 Yoshiyama K display authors 3 last4 Shimizu first4 E last5 Kataoka first5 M last6 Hijiya first6 N last7 Matsuura first7 K cite journal author Schlomann U title Tumor necrosis factor alpha induces a metalloprotease disintegrin, ADAM8 CD 156 implications for neuron glia interactions during neurodegeneration journal J. Neurosci. volume 20 issue 21 pages 7964 71 year 2001 pmid 11050116 doi author separator ... more details
and exhibit massive neurodegeneration. Fibroblasts from these mice display 50 lower levels of PtdIns ... in neurodegeneration in mice journal Proc. Natl. Acad. Sci. U.S.A. volume 104 issue 44 pages 17518 23 ... more details
, D., Hubbert, C.C., Yao, T.P., Baehrecke, E.H., Taylor, J.P., 2007. HDAC6 rescues neurodegeneration ... system CNS to autoimmunity and neurodegeneration ref Hauser, S.L., Oksenberg, J.R., 2006. The neurobiology of multiple sclerosis genes, inflammation, and neurodegeneration. Neuron 52, 61 76. ref . Other ... CNS inflammation, immune mediated demyelination and neurodegeneration, and may represent an emerging ... more details
Infobox Disease Name GM1 gangliosidoses Image Caption DiseasesDB 32008 DiseasesDB mult DiseasesDB2 32014 ICD10 ICD10 E 75 1 e 70 ICD9 ICD9 330.1 ICDO OMIM 230600 OMIM mult OMIM2 230650 , OMIM2 230500 MedlinePlus eMedicineSubj ped eMedicineTopic 2891 MeshID D016537 The GM1 gangliosidoses are caused by a deficiency of beta galactosidase , with resulting abnormal storage of acidic lipid materials in Cell biology cells of the central and peripheral nervous system s, but particularly in the nerve cells. Types GM1 has three forms early infantile, late infantile, and adult. Early infantile GM1 Symptoms of early infantile GM1 the most severe subtype, with onset shortly after birth may include neurodegeneration , seizures , liver hepatomegaly and spleen splenomegaly enlargement, coarsening of facial features, skeletal irregularities, joint stiffness, distended abdomen, muscle weakness, exaggerated startle response to sound, and problems with gait . About half of affected patients develop cherry red spots in the human eye eye . Children may be deaf and Blindness blind by age 1 and often die by age 3 from cardiac complications or pneumonia . Autosomal recessive disorder beta galactosidase deficiency neuronal storage of GM1 ganglioside and visceral storage of galactosyl oligosaccharides and keratan sulfate. Early psychomotor deterioration decreased activity and lethargy in the first weeks never sit feeding problems failure to thrive visual failure nystagmus noted by 6 months initial hypotonia later spasticity with pyramidal signs secondary microcephaly develops decerebrate rigidity by 1 year and death by age 1 2 years due to pneumonia and respiratory failure some have hyperacusis. Macular cherry red spots in 50 by 6 10 months corneal opacities in some Facial dysmorphology frontal bossing, wide nasal bridge, facial edema puffy eyelids peripheral edema, epicanthus, long upper lip, microretrognathia, gingival hypertrophy thick alveolar ridges , macroglossia Hepatomegaly by 6 month ... more details
Tourettism refers to the presence of Tourette like symptoms in the absence of Tourette syndrome , as the result of other diseases or conditions, known as secondary causes . Tourette syndrome TS is an inherited neurological condition of multiple motor and at least one vocal tic . Although Tourette syndrome is the most common cause of tic disorder s, ref Jankovic J, Mejia NI. Tics associated with other disorders. Adv Neurol. 2006 99 61 8. PMID 16536352 ref other sporadic, gene genetic , and neurodegenerative disease neurodegenerative disorders may also exhibit tics. ref name Mejia Mejia NI, Jankovic J. Secondary tics and tourettism. Rev Bras Psiquiatr . 2005 27 1 11 17. PMID 15867978 http web.archive.org web 20070628191850 http www.scielo.br pdf rbp v27n1 23707.pdf Full text PDF ref Tic mimickers NOTE EVERYTHING listed on this page is verifiable to the sources listed in references please do not make unsourced additions. Please provide a citation for any additions. Chorea disease Myoclonus Dystonia Torsion dystonia Idiopathic dystonia Genetic chromosomal NOTE EVERYTHING listed on this page is verifiable to the sources listed in references please do not make unsourced additions. Please provide a citation for any additions. Chromosomal abnormalities Citrullinemia Down syndrome Duchenne muscular dystrophy Fragile X syndrome Hallervorden Spatz syndrome Huntington s disease Klinefelter s syndrome Lesch Nyhan syndrome Neuroacanthocytosis Neurodegeneration Phenylketonuria Schizophrenia Tuberous sclerosis Wilson disease XYY syndrome Infectious or post infectious NOTE EVERYTHING listed on this page is verifiable to the sources listed in references please do not make unsourced additions. Please provide a citation for any additions. Encephalitis Mycoplasma pneumoniae Sydenham s chorea Developmental NOTE EVERYTHING listed on this page is verifiable to the sources listed in references please do not make unsourced additions. Please provide a citation for any additions. Pervasive dev ... more details
Encyclopedia
top
