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Hereditary Neurodegenerative Disorder

MedGen UID:
474858
•Concept ID:
C3273225
•
Disease or Syndrome

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary Neurodegenerative Disorder

Professional guidelines

PubMed

Multidisciplinary approach to management of a hereditary neurodegenerative disorder: Huntington disease.
Klimek ML, Rohs G, Young L, Suchowersky O, Trew M
Axone 1997 Dec;19(2):34-8. PMID: 9481240

Recent clinical studies

Etiology

Real-World Experience With Deutetrabenazine for Huntington Disease Chorea.
Curtis K, Sung V
J Clin Pharmacol 2024 Feb;64(2):178-181. Epub 2023 Aug 24 doi: 10.1002/jcph.2336. PMID: 37565322
Extensive cerebellar and thalamic degeneration in spinocerebellar ataxia type 10.
Hernandez-Castillo CR, Diaz R, Vaca-Palomares I, Torres DL, Chirino A, Campos-Romo A, Ochoa A, Rasmussen A, Fernandez-Ruiz J
Parkinsonism Relat Disord 2019 Sep;66:182-188. Epub 2019 Aug 19 doi: 10.1016/j.parkreldis.2019.08.011. PMID: 31445906
Visual Object Perception in Premanifest and Early Manifest Huntington's Disease.
Coppen EM, Jacobs M, van der Zwaan KF, Middelkoop HAM, Roos RAC
Arch Clin Neuropsychol 2019 Nov 27;34(8):1320-1328. doi: 10.1093/arclin/acz002. PMID: 30796801Free PMC Article
Correlation between clinical and radiologic features of patients with Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu).
Yoshimura M, Yuan JH, Higashi K, Yoshimura A, Arata H, Okubo R, Nakabeppu Y, Yoshiura T, Takashima H
J Neurol Sci 2018 Aug 15;391:15-21. Epub 2018 May 17 doi: 10.1016/j.jns.2018.05.012. PMID: 30103963
Neuroprotection by the inhibition of apoptosis.
Robertson GS, Crocker SJ, Nicholson DW, Schulz JB
Brain Pathol 2000 Apr;10(2):283-92. doi: 10.1111/j.1750-3639.2000.tb00262.x. PMID: 10764048Free PMC Article

Diagnosis

Cerebellar abiotrophy in an Icelandic horse.
Hansen S, Olsen E, Raundal M, Agerholm JS
Acta Vet Scand 2022 Nov 26;64(1):31. doi: 10.1186/s13028-022-00651-0. PMID: 36435777Free PMC Article
The psychopharmacology of Huntington disease.
Petersén Å, Weydt P
Handb Clin Neurol 2019;165:179-189. doi: 10.1016/B978-0-444-64012-3.00010-1. PMID: 31727211
Fragile X-associated tremor/ataxia syndrome.
Hoem G, Koht J
Tidsskr Nor Laegeforen 2017 Oct 31;137(20) Epub 2017 Oct 30 doi: 10.4045/tidsskr.17.0317. PMID: 29094559
Update on Huntington's disease: advances in care and emerging therapeutic options.
Zielonka D, Mielcarek M, Landwehrmeyer GB
Parkinsonism Relat Disord 2015 Mar;21(3):169-78. Epub 2014 Dec 19 doi: 10.1016/j.parkreldis.2014.12.013. PMID: 25572500
Spinal muscular atrophy in the neonate.
Markowitz JA, Tinkle MB, Fischbeck KH
J Obstet Gynecol Neonatal Nurs 2004 Jan-Feb;33(1):12-20. doi: 10.1177/0884217503261125. PMID: 14971549

Therapy

Small molecule splicing modifiers with systemic HTT-lowering activity.
Bhattacharyya A, Trotta CR, Narasimhan J, Wiedinger KJ, Li W, Effenberger KA, Woll MG, Jani MB, Risher N, Yeh S, Cheng Y, Sydorenko N, Moon YC, Karp GM, Weetall M, Dakka A, Gabbeta V, Naryshkin NA, Graci JD, Tripodi T Jr, Southwell A, Hayden M, Colacino JM, Peltz SW
Nat Commun 2021 Dec 15;12(1):7299. doi: 10.1038/s41467-021-27157-z. PMID: 34911927Free PMC Article
The psychopharmacology of Huntington disease.
Petersén Å, Weydt P
Handb Clin Neurol 2019;165:179-189. doi: 10.1016/B978-0-444-64012-3.00010-1. PMID: 31727211
Update on Huntington's disease: advances in care and emerging therapeutic options.
Zielonka D, Mielcarek M, Landwehrmeyer GB
Parkinsonism Relat Disord 2015 Mar;21(3):169-78. Epub 2014 Dec 19 doi: 10.1016/j.parkreldis.2014.12.013. PMID: 25572500
Screening of therapeutic strategies for Huntington's disease in YAC128 transgenic mice.
Gil-Mohapel JM
CNS Neurosci Ther 2012 Jan;18(1):77-86. doi: 10.1111/j.1755-5949.2011.00246.x. PMID: 21501423Free PMC Article
Spinal muscular atrophy in the neonate.
Markowitz JA, Tinkle MB, Fischbeck KH
J Obstet Gynecol Neonatal Nurs 2004 Jan-Feb;33(1):12-20. doi: 10.1177/0884217503261125. PMID: 14971549

Prognosis

A high-throughput-compatible assay to measure the degradation of endogenous Huntingtin proteins.
Wu P, Lu MX, Cui XT, Yang HQ, Yu SL, Zhu JB, Sun XL, Lu B
Acta Pharmacol Sin 2016 Sep;37(10):1307-1314. Epub 2016 Jun 6 doi: 10.1038/aps.2016.31. PMID: 27264314Free PMC Article
Plasma 24S-hydroxycholesterol and caudate MRI in pre-manifest and early Huntington's disease.
Leoni V, Mariotti C, Tabrizi SJ, Valenza M, Wild EJ, Henley SM, Hobbs NZ, Mandelli ML, Grisoli M, Björkhem I, Cattaneo E, Di Donato S
Brain 2008 Nov;131(Pt 11):2851-9. Epub 2008 Sep 4 doi: 10.1093/brain/awn212. PMID: 18772220
Hypothalamic dysfunction and neuroendocrine and metabolic alterations in Huntington's disease: clinical consequences and therapeutic implications.
Aziz NA, Swaab DF, Pijl H, Roos RA
Rev Neurosci 2007;18(3-4):223-51. doi: 10.1515/revneuro.2007.18.3-4.223. PMID: 18019608
Spinal muscular atrophy in the neonate.
Markowitz JA, Tinkle MB, Fischbeck KH
J Obstet Gynecol Neonatal Nurs 2004 Jan-Feb;33(1):12-20. doi: 10.1177/0884217503261125. PMID: 14971549
Autosomal recessive juvenile parkinsonism.
Saito M, Maruyama M, Ikeuchi K, Kondo H, Ishikawa A, Yuasa T, Tsuji S
Brain Dev 2000 Sep;22 Suppl 1:S115-7. doi: 10.1016/s0387-7604(00)00137-6. PMID: 10984671

Clinical prediction guides

Real-World Experience With Deutetrabenazine for Huntington Disease Chorea.
Curtis K, Sung V
J Clin Pharmacol 2024 Feb;64(2):178-181. Epub 2023 Aug 24 doi: 10.1002/jcph.2336. PMID: 37565322
Extensive cerebellar and thalamic degeneration in spinocerebellar ataxia type 10.
Hernandez-Castillo CR, Diaz R, Vaca-Palomares I, Torres DL, Chirino A, Campos-Romo A, Ochoa A, Rasmussen A, Fernandez-Ruiz J
Parkinsonism Relat Disord 2019 Sep;66:182-188. Epub 2019 Aug 19 doi: 10.1016/j.parkreldis.2019.08.011. PMID: 31445906
Visual Object Perception in Premanifest and Early Manifest Huntington's Disease.
Coppen EM, Jacobs M, van der Zwaan KF, Middelkoop HAM, Roos RAC
Arch Clin Neuropsychol 2019 Nov 27;34(8):1320-1328. doi: 10.1093/arclin/acz002. PMID: 30796801Free PMC Article
Pridopidine: Overview of Pharmacology and Rationale for its Use in Huntington's Disease.
Waters S, Tedroff J, Ponten H, Klamer D, Sonesson C, Waters N
J Huntingtons Dis 2018;7(1):1-16. doi: 10.3233/JHD-170267. PMID: 29480206Free PMC Article
Neuroprotection by the inhibition of apoptosis.
Robertson GS, Crocker SJ, Nicholson DW, Schulz JB
Brain Pathol 2000 Apr;10(2):283-92. doi: 10.1111/j.1750-3639.2000.tb00262.x. PMID: 10764048Free PMC Article

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