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Neurodegenerative Disorder

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
Synonyms: Degenerative Condition, Neurologic; Degenerative Conditions, Neurologic; Degenerative Diseases, Nervous System; Degenerative Diseases, Neurologic; Degenerative Neurologic Disease; Degenerative Neurologic Diseases; Degenerative Neurologic Disorder; Degenerative Neurologic Disorders; Nervous System Degenerative Diseases; Neurodegenerative Disease; Neurodegenerative Diseases; Neurodegenerative Disorders; Neurologic Degenerative Condition; Neurologic Degenerative Conditions; Neurologic Degenerative Disease; Neurologic Degenerative Diseases; Neurologic Disease, Degenerative; Neurologic Diseases, Degenerative; Neurologic Disorder, Degenerative; Neurologic Disorders, Degenerative

Definition

Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeurodegenerative Disorder

Recent clinical studies

Etiology

Giannoccaro MP, Gastaldi M, Rizzo G, Jacobson L, Vacchiano V, Perini G, Capellari S, Franciotta D, Costa A, Liguori R, Vincent A
Brain Behav Immun 2021 Aug;96:106-112. Epub 2021 May 20 doi: 10.1016/j.bbi.2021.05.017. PMID: 34022370
Varvagiannis K, Hanquinet S, Billieux MH, De Luca R, Rimensberger P, Lidgren M, Guipponi M, Makrythanasis P, Blouin JL, Antonarakis SE, Steinfeld R, Kern I, Poretti A, Fluss J, Fokstuen S
Neuropediatrics 2018 Apr;49(2):150-153. Epub 2017 Dec 28 doi: 10.1055/s-0037-1613681. PMID: 29284168
Savchenko E, Singh Y, Konttinen H, Lejavova K, Mediavilla Santos L, Grubman A, Kärkkäinen V, Keksa-Goldsteine V, Naumenko N, Tavi P, White AR, Malm T, Koistinaho J, Kanninen KM
Dis Model Mech 2017 Sep 1;10(9):1089-1100. Epub 2017 Jul 21 doi: 10.1242/dmm.029165. PMID: 28733362Free PMC Article
Lynch SK, Abràmoff MD
Vision Res 2017 Oct;139:101-107. Epub 2017 Apr 28 doi: 10.1016/j.visres.2017.03.003. PMID: 28408138Free PMC Article
Lahiry P, Racacho L, Wang J, Robinson JF, Gloor GB, Rupar CA, Siu VM, Bulman DE, Hegele RA
Orphanet J Rare Dis 2013 Aug 17;8:126. doi: 10.1186/1750-1172-8-126. PMID: 23957953Free PMC Article

Diagnosis

Giannoccaro MP, Gastaldi M, Rizzo G, Jacobson L, Vacchiano V, Perini G, Capellari S, Franciotta D, Costa A, Liguori R, Vincent A
Brain Behav Immun 2021 Aug;96:106-112. Epub 2021 May 20 doi: 10.1016/j.bbi.2021.05.017. PMID: 34022370
Sitarska D, Ługowska A
Metab Brain Dis 2019 Oct;34(5):1253-1260. Epub 2019 Jun 13 doi: 10.1007/s11011-019-00445-w. PMID: 31197681Free PMC Article
Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H
Brain 2019 Jan 1;142(1):50-58. doi: 10.1093/brain/awy310. PMID: 30576410
Khan AU, Akram M, Daniyal M, Zainab R
Int J Neurosci 2019 Jan;129(1):55-93. Epub 2018 Nov 22 doi: 10.1080/00207454.2018.1486837. PMID: 29883227
Al Zaabi N, Al Menhali N, Al-Jasmi F
Mol Genet Genomic Med 2018 Jan;6(1):109-113. Epub 2017 Nov 27 doi: 10.1002/mgg3.341. PMID: 29179256Free PMC Article

Therapy

King B, Setford ML, Hassiotis S, Trim PJ, Duplock S, Tucker JN, Hattersley K, Snel MF, Hopwood JJ, Hemsley KM
Exp Neurol 2016 Apr;278:11-21. Epub 2015 Nov 26 doi: 10.1016/j.expneurol.2015.11.013. PMID: 26626972
Kamate M, Singh N, Patil S
Indian Pediatr 2015 Jun;52(6):521-2. doi: 10.1007/s13312-015-0668-0. PMID: 26121732
Zhou J
Sci China Life Sci 2010 Mar;53(3):348-355. Epub 2010 Apr 29 doi: 10.1007/s11427-010-0061-0. PMID: 20596930
Barlow BK, Cory-Slechta DA, Richfield EK, Thiruchelvam M
Reprod Toxicol 2007 Apr-May;23(3):457-70. Epub 2007 Feb 6 doi: 10.1016/j.reprotox.2007.01.007. PMID: 17350799
Saugstad LF
Nutr Health 2006;18(2):89-101. doi: 10.1177/026010600601800201. PMID: 16859172

Prognosis

Giannoccaro MP, Gastaldi M, Rizzo G, Jacobson L, Vacchiano V, Perini G, Capellari S, Franciotta D, Costa A, Liguori R, Vincent A
Brain Behav Immun 2021 Aug;96:106-112. Epub 2021 May 20 doi: 10.1016/j.bbi.2021.05.017. PMID: 34022370
Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H
Brain 2019 Jan 1;142(1):50-58. doi: 10.1093/brain/awy310. PMID: 30576410
Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M, Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM
Ann Neurol 2018 Nov;84(5):766-780. Epub 2018 Nov 8 doi: 10.1002/ana.25351. PMID: 30295347Free PMC Article
Rangarh P, Kohli N
BMJ Case Rep 2018 May 22;2018 doi: 10.1136/bcr-2017-223858. PMID: 29789304Free PMC Article
Al Zaabi N, Al Menhali N, Al-Jasmi F
Mol Genet Genomic Med 2018 Jan;6(1):109-113. Epub 2017 Nov 27 doi: 10.1002/mgg3.341. PMID: 29179256Free PMC Article

Clinical prediction guides

Giannoccaro MP, Gastaldi M, Rizzo G, Jacobson L, Vacchiano V, Perini G, Capellari S, Franciotta D, Costa A, Liguori R, Vincent A
Brain Behav Immun 2021 Aug;96:106-112. Epub 2021 May 20 doi: 10.1016/j.bbi.2021.05.017. PMID: 34022370
Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H
Brain 2019 Jan 1;142(1):50-58. doi: 10.1093/brain/awy310. PMID: 30576410
Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M, Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM
Ann Neurol 2018 Nov;84(5):766-780. Epub 2018 Nov 8 doi: 10.1002/ana.25351. PMID: 30295347Free PMC Article
Savchenko E, Singh Y, Konttinen H, Lejavova K, Mediavilla Santos L, Grubman A, Kärkkäinen V, Keksa-Goldsteine V, Naumenko N, Tavi P, White AR, Malm T, Koistinaho J, Kanninen KM
Dis Model Mech 2017 Sep 1;10(9):1089-1100. Epub 2017 Jul 21 doi: 10.1242/dmm.029165. PMID: 28733362Free PMC Article
Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ; Netherlands Brain Bank., Bakker EB; International Parkinsonism Genetics Network., Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J
Brain 2014 May;137(Pt 5):1361-73. Epub 2014 Apr 9 doi: 10.1093/brain/awu067. PMID: 24722252

Recent systematic reviews

Mole SE, Schulz A, Badoe E, Berkovic SF, de Los Reyes EC, Dulz S, Gissen P, Guelbert N, Lourenco CM, Mason HL, Mink JW, Murphy N, Nickel M, Olaya JE, Scarpa M, Scheffer IE, Simonati A, Specchio N, Von Löbbecke I, Wang RY, Williams RE
Orphanet J Rare Dis 2021 Apr 21;16(1):185. doi: 10.1186/s13023-021-01813-5. PMID: 33882967Free PMC Article
Grayev A, Schoepp M, Kuner A
AJNR Am J Neuroradiol 2021 May;42(5):980-985. Epub 2021 Feb 25 doi: 10.3174/ajnr.A7009. PMID: 33632735Free PMC Article
Muthusamy S, Garg P, Chandra RV, Seneviratne U
J Clin Neurosci 2021 Apr;86:301-309. Epub 2021 Jan 9 doi: 10.1016/j.jocn.2020.10.002. PMID: 33436304
Elfil M, Bahbah EI, Attia MM, Eldokmak M, Koo BB
Mov Disord 2021 Mar;36(3):570-580. Epub 2020 Dec 9 doi: 10.1002/mds.28412. PMID: 33296545
Chatzikonstantinou S, McKenna J, Karantali E, Petridis F, Kazis D, Mavroudis I
Aging Clin Exp Res 2021 May;33(5):1197-1208. Epub 2020 May 7 doi: 10.1007/s40520-020-01576-2. PMID: 32383032

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