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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

Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies.
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
Allele-selective transcriptional repression of mutant HTT for the treatment of Huntington's disease.
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
Deutetrabenazine for the treatment of Huntington's chorea.
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

Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease.
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
Deutetrabenazine for the treatment of Huntington's chorea.
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
Serum uric acid in Friedreich Ataxia.
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
Stem cell transplantation for Huntington's diseases.
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
Mechanisms of synaptic dysfunction and excitotoxicity in Huntington's disease.
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

Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.
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
Development of Research on Huntington Disease in China.
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
Biomarker development for Huntington's disease.
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
Cerebro-oculo-facio-skeletal syndrome.
Rafique M, Zia S
J Coll Physicians Surg Pak 2012 Sep;22(9):607-9. PMID: 22980622
Juvenile Huntington disease.
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

What did we learn from neural grafts in Huntington disease?
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
Deutetrabenazine for the treatment of Huntington's chorea.
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
Phosphodiesterases as therapeutic targets for Huntington's disease.
Fusco FR, Giampà C
Curr Pharm Des 2015;21(3):365-77. doi: 10.2174/1381612820666140826113957. PMID: 25159076
Biomarker development for Huntington's disease.
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
Clinical picture of EPM1-Unverricht-Lundborg disease.
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

Beyond CAG Repeats: The Multifaceted Role of Genetics in Huntington Disease.
Pengo M, Squitieri F
Genes (Basel) 2024 Jun 19;15(6) doi: 10.3390/genes15060807. PMID: 38927742Free PMC Article
Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies.
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
Challenges of Huntington's disease and quest for therapeutic biomarkers.
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
Clinical picture of EPM1-Unverricht-Lundborg disease.
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
Spinocerebellar ataxia type 1.
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

Beyond CAG Repeats: The Multifaceted Role of Genetics in Huntington Disease.
Pengo M, Squitieri F
Genes (Basel) 2024 Jun 19;15(6) doi: 10.3390/genes15060807. PMID: 38927742Free PMC Article
Age-related Huntington's disease progression modeled in directly reprogrammed patient-derived striatal neurons highlights impaired autophagy.
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
Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies.
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
Protein oxidation in Huntington disease.
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
Spinocerebellar ataxia type 1.
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

The emerging molecular mechanisms for mitochondrial dysfunctions in FXTAS.
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
Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: A systematic review.
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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