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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
Zeitler B, Froelich S, Marlen K, Shivak DA, Yu Q, Li D, Pearl JR, Miller JC, Zhang L, Paschon DE, Hinkley SJ, Ankoudinova I, Lam S, Guschin D, Kopan L, Cherone JM, Nguyen HB, Qiao G, Ataei Y, Mendel MC, Amora R, Surosky R, Laganiere J, Vu BJ, Narayanan A, Sedaghat Y, Tillack K, Thiede C, Gärtner A, Kwak S, Bard J, Mrzljak L, Park L, Heikkinen T, Lehtimäki KK, Svedberg MM, Häggkvist J, Tari L, Tóth M, Varrone A, Halldin C, Kudwa AE, Ramboz S, Day M, Kondapalli J, Surmeier DJ, Urnov FD, Gregory PD, Rebar EJ, Muñoz-Sanjuán I, Zhang HS
Nat Med 2019 Jul;25(7):1131-1142. Epub 2019 Jul 1 doi: 10.1038/s41591-019-0478-3. PMID: 31263285
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

Recent clinical studies

Etiology

Ou-Yang CH, Tai CH, Lin HY, Huang CY, Lin CH
Stem Cell Res 2021 Mar;51:102190. Epub 2021 Jan 22 doi: 10.1016/j.scr.2021.102190. PMID: 33517123
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, 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
Inayathullah M, Tan A, Jeyaraj R, Lam J, Cho NJ, Liu CW, Manoukian MA, Ashkan K, Mahmoudi M, Rajadas J
Neuropeptides 2016 Jun;57:71-83. Epub 2016 Feb 3 doi: 10.1016/j.npep.2016.01.011. PMID: 26874369
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
Zhang X, Qiao Y, Han R, Gao Y, Yang X, Zhang Y, Wan Y, Yu W, Pan X, Xing J
Cells 2022 Sep 15;11(18) doi: 10.3390/cells11182886. PMID: 36139461Free PMC Article
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
Rafique M, Zia S
J Coll Physicians Surg Pak 2012 Sep;22(9):607-9. PMID: 22980622
Geevasinga N, Richards FH, Jones KJ, Ryan MM
J Paediatr Child Health 2006 Sep;42(9):552-4. doi: 10.1111/j.1440-1754.2006.00921.x. PMID: 16925544

Therapy

Upadhayay S, Kumar P
Pharmacol Rep 2024 Aug;76(4):693-713. Epub 2024 Jul 9 doi: 10.1007/s43440-024-00619-z. PMID: 38982016
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
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
Kälviäinen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E
Epilepsia 2008 Apr;49(4):549-56. Epub 2008 Mar 5 doi: 10.1111/j.1528-1167.2008.01546.x. PMID: 18325013

Prognosis

Pengo M, Squitieri F
Genes (Basel) 2024 Jun 19;15(6) doi: 10.3390/genes15060807. PMID: 38927742Free 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
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
Seki N, Muramatsu M, Sugano S, Suzuki Y, Nakagawara A, Ohhira M, Hayashi A, Hori T, Saito T
J Hum Genet 1998;43(4):268-71. doi: 10.1007/s100380050087. PMID: 9852681
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

Pengo M, Squitieri F
Genes (Basel) 2024 Jun 19;15(6) doi: 10.3390/genes15060807. PMID: 38927742Free PMC Article
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
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
Sathasivam K, Hobbs C, Mangiarini L, Mahal A, Turmaine M, Doherty P, Davies SW, Bates GP
Philos Trans R Soc Lond B Biol Sci 1999 Jun 29;354(1386):963-9. doi: 10.1098/rstb.1999.0447. PMID: 10434294Free PMC Article
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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