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Inherited neurodegenerative disorder

MedGen UID:
1825988
Concept ID:
C5680568
Disease or Syndrome
Synonyms: genetic neurodegenerative disease; Genetic neurodegenerative disease; hereditary neurodegenerative disease; hereditary neurodegenerative disorder; inherited neurodegenerative disorder
 
Monarch Initiative: MONDO:0024237
Orphanet: ORPHA183500

Definition

An inherited disorder characterized by progressive degeneration and atrophy of the nervous system. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Inherited neurodegenerative disorder

Professional guidelines

PubMed

Ma CY, Li C, Zhou X, Zhang Z, Jiang H, Liu H, Chen HJ, Tse HF, Liao C, Lian Q
Biomed Pharmacother 2021 Nov;143:112214. Epub 2021 Sep 21 doi: 10.1016/j.biopha.2021.112214. PMID: 34560537
Bashir H, Jankovic J
Expert Rev Neurother 2018 Aug;18(8):625-631. Epub 2018 Jul 17 doi: 10.1080/14737175.2018.1500178. PMID: 29996061
Choi KA, Hwang I, Park HS, Oh SI, Kang S, Hong S
Biotechnol J 2014 Jul;9(7):882-94. Epub 2014 May 15 doi: 10.1002/biot.201300560. PMID: 24827816

Recent clinical studies

Etiology

Ellis N, Tee A, McAllister B, Massey T, McLauchlan D, Stone T, Correia K, Loupe J, Kim KH, Barker D, Hong EP, Chao MJ, Long JD, Lucente D, Vonsattel JPG, Pinto RM, Elneel KA, Ramos EM, Mysore JS, Gillis T, Wheeler VC, Medway C, Hall L, Kwak S, Sampaio C, Ciosi M, Maxwell A, Chatzi A, Monckton DG, Orth M, Landwehrmeyer GB, Paulsen JS, Shoulson I, Myers RH, van Duijn E, Rickards H, MacDonald ME, Lee JM, Gusella JF, Jones L, Holmans P
Biol Psychiatry 2020 May 1;87(9):857-865. Epub 2019 Dec 17 doi: 10.1016/j.biopsych.2019.12.010. PMID: 32087949Free PMC Article
Bashir H, Jankovic J
Expert Rev Neurother 2018 Aug;18(8):625-631. Epub 2018 Jul 17 doi: 10.1080/14737175.2018.1500178. PMID: 29996061
Schirinzi T, Vasco G, Zanni G, Petrillo S, Piemonte F, Castelli E, Bertini ES
Clin Biochem 2018 Apr;54:139-141. Epub 2018 Feb 2 doi: 10.1016/j.clinbiochem.2018.01.022. PMID: 29409831
Choi KA, Choi Y, Hong S
Methods 2018 Jan 15;133:104-112. Epub 2017 Sep 1 doi: 10.1016/j.ymeth.2017.08.017. PMID: 28867501
Sepers MD, Raymond LA
Drug Discov Today 2014 Jul;19(7):990-6. Epub 2014 Mar 3 doi: 10.1016/j.drudis.2014.02.006. PMID: 24603212

Diagnosis

Lenaers G, Beaulieu C, Charif M, Gerber S, Kaplan J, Rozet JM
Brain 2023 Aug 1;146(8):3156-3161. doi: 10.1093/brain/awad131. PMID: 37071596Free PMC Article
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
Li HL, Zhang YB, Wu ZY
Neurosci Bull 2017 Jun;33(3):312-316. Epub 2016 Dec 28 doi: 10.1007/s12264-016-0093-y. PMID: 28032313Free PMC Article
Rafique M, Zia S
J Coll Physicians Surg Pak 2012 Sep;22(9):607-9. PMID: 22980622
Brasić JR, Zagzag D, Kowalik S, Prichep L, John ER, Liang HG, Klutchko B, Cancro R, Sheitman BB, Buchsbaum M, Brathwaite C
Psychol Rep 1999 Feb;84(1):239-46. doi: 10.2466/pr0.1999.84.1.239. PMID: 10203957

Therapy

Bachoud-Lévi AC
Rev Neurol (Paris) 2022 May;178(5):441-449. Epub 2022 Apr 28 doi: 10.1016/j.neurol.2022.03.004. PMID: 35491247
Bashir H, Jankovic J
Expert Rev Neurother 2018 Aug;18(8):625-631. Epub 2018 Jul 17 doi: 10.1080/14737175.2018.1500178. PMID: 29996061
Fusco FR, Giampà C
Curr Pharm Des 2015;21(3):365-77. doi: 10.2174/1381612820666140826113957. PMID: 25159076
Andre R, Scahill RI, Haider S, Tabrizi SJ
Drug Discov Today 2014 Jul;19(7):972-9. Epub 2014 Mar 12 doi: 10.1016/j.drudis.2014.03.002. PMID: 24632006
Chandra A, Johri A, Beal MF
Mov Disord 2014 Mar;29(3):285-93. Epub 2014 Feb 26 doi: 10.1002/mds.25835. PMID: 24573776Free PMC Article

Prognosis

Ma CY, Li C, Zhou X, Zhang Z, Jiang H, Liu H, Chen HJ, Tse HF, Liao C, Lian Q
Biomed Pharmacother 2021 Nov;143:112214. Epub 2021 Sep 21 doi: 10.1016/j.biopha.2021.112214. PMID: 34560537
Kotrcova E, Jarkovska K, Valekova I, Zizkova M, Motlik J, Gadher SJ, Kovarova H
Proteomics Clin Appl 2015 Feb;9(1-2):147-58. Epub 2014 Nov 2 doi: 10.1002/prca.201400073. PMID: 25290828
Grünewald T, Beal MF
Ann N Y Acad Sci 1999;893:203-13. doi: 10.1111/j.1749-6632.1999.tb07827.x. PMID: 10672239
Brasić JR, Zagzag D, Kowalik S, Prichep L, John ER, Liang HG, Klutchko B, Cancro R, Sheitman BB, Buchsbaum M, Brathwaite C
Psychol Rep 1999 Feb;84(1):239-46. doi: 10.2466/pr0.1999.84.1.239. PMID: 10203957
Zoghbi HY, Orr HT
Semin Cell Biol 1995 Feb;6(1):29-35. doi: 10.1016/1043-4682(95)90012-8. PMID: 7620119

Clinical prediction guides

Oh YM, Lee SW, Kim WK, Chen S, Church VA, Cates K, Li T, Zhang B, Dolle RE, Dahiya S, Pak SC, Silverman GA, Perlmutter DH, Yoo AS
Nat Neurosci 2022 Nov;25(11):1420-1433. Epub 2022 Oct 27 doi: 10.1038/s41593-022-01185-4. PMID: 36303071Free PMC Article
Ma CY, Li C, Zhou X, Zhang Z, Jiang H, Liu H, Chen HJ, Tse HF, Liao C, Lian Q
Biomed Pharmacother 2021 Nov;143:112214. Epub 2021 Sep 21 doi: 10.1016/j.biopha.2021.112214. PMID: 34560537
Coppen EM, van der Grond J, Hart EP, Lakke EAJF, Roos RAC
Behav Brain Res 2018 Oct 1;351:63-74. Epub 2018 May 21 doi: 10.1016/j.bbr.2018.05.019. PMID: 29792890
Sorolla MA, Rodríguez-Colman MJ, Vall-llaura N, Tamarit J, Ros J, Cabiscol E
Biofactors 2012 May-Jun;38(3):173-85. Epub 2012 Mar 31 doi: 10.1002/biof.1013. PMID: 22473822
Zoghbi HY, Orr HT
Semin Cell Biol 1995 Feb;6(1):29-35. doi: 10.1016/1043-4682(95)90012-8. PMID: 7620119

Recent systematic reviews

Gohel D, Berguerand NC, Tassone F, Singh R
Biochim Biophys Acta Mol Basis Dis 2020 Dec 1;1866(12):165918. Epub 2020 Aug 12 doi: 10.1016/j.bbadis.2020.165918. PMID: 32800941
Wardle M, Morris HR, Robertson NP
Mov Disord 2009 Aug 15;24(11):1636-40. doi: 10.1002/mds.22642. PMID: 19514013

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