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Abnormal motor neuron morphology

MedGen UID:
871226
•Concept ID:
C4025707
•
Anatomical Abnormality
Synonym: Abnormal shape of motor neuron
 
HPO: HP:0002450

Definition

Any structural anomaly that affects the motor neuron. [from HPO]

Professional guidelines

PubMed

Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities.
McCray BA, Scherer SS
Neurotherapeutics 2021 Oct;18(4):2269-2285. Epub 2021 Oct 4 doi: 10.1007/s13311-021-01099-2. PMID: 34606075Free PMC Article
Levodopa treatment and dendritic spine pathology.
Nishijima H, Ueno T, Funamizu Y, Ueno S, Tomiyama M
Mov Disord 2018 Jul;33(6):877-888. Epub 2017 Sep 7 doi: 10.1002/mds.27172. PMID: 28880414Free PMC Article
Huntington's disease: from molecular pathogenesis to clinical treatment.
Ross CA, Tabrizi SJ
Lancet Neurol 2011 Jan;10(1):83-98. doi: 10.1016/S1474-4422(10)70245-3. PMID: 21163446

Recent clinical studies

Etiology

Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities.
McCray BA, Scherer SS
Neurotherapeutics 2021 Oct;18(4):2269-2285. Epub 2021 Oct 4 doi: 10.1007/s13311-021-01099-2. PMID: 34606075Free PMC Article
Effects of Serotonin and Slow-Release 5-Hydroxytryptophan on Gastrointestinal Motility in a Mouse Model of Depression.
Israelyan N, Del Colle A, Li Z, Park Y, Xing A, Jacobsen JPR, Luna RA, Jensen DD, Madra M, Saurman V, Rahim R, Latorre R, Law K, Carson W, Bunnett NW, Caron MG, Margolis KG
Gastroenterology 2019 Aug;157(2):507-521.e4. Epub 2019 May 7 doi: 10.1053/j.gastro.2019.04.022. PMID: 31071306Free PMC Article
The neuropathology of traumatic brain injury.
Mckee AC, Daneshvar DH
Handb Clin Neurol 2015;127:45-66. doi: 10.1016/B978-0-444-52892-6.00004-0. PMID: 25702209Free PMC Article
The neuropathology of sport.
McKee AC, Daneshvar DH, Alvarez VE, Stein TD
Acta Neuropathol 2014 Jan;127(1):29-51. Epub 2013 Dec 24 doi: 10.1007/s00401-013-1230-6. PMID: 24366527Free PMC Article
The functional anatomy of basal ganglia disorders.
Albin RL, Young AB, Penney JB
Trends Neurosci 1989 Oct;12(10):366-75. doi: 10.1016/0166-2236(89)90074-x. PMID: 2479133

Diagnosis

Mills' syndrome revisited.
Jaiser SR, Mitra D, Williams TL, Baker MR
J Neurol 2019 Mar;266(3):667-679. Epub 2019 Jan 10 doi: 10.1007/s00415-019-09186-3. PMID: 30631918Free PMC Article
Angelman Syndrome.
Margolis SS, Sell GL, Zbinden MA, Bird LM
Neurotherapeutics 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. PMID: 26040994Free PMC Article
Giant axonal neuropathy.
Hentati F, Hentati E, Amouri R
Handb Clin Neurol 2013;115:933-8. doi: 10.1016/B978-0-444-52902-2.00052-7. PMID: 23931822
Spinal muscular atrophies.
Viollet L, Melki J
Handb Clin Neurol 2013;113:1395-411. doi: 10.1016/B978-0-444-59565-2.00010-1. PMID: 23622363
The evaluation of the hypotonic infant.
Bodensteiner JB
Semin Pediatr Neurol 2008 Mar;15(1):10-20. doi: 10.1016/j.spen.2008.01.003. PMID: 18342256

Therapy

Effects of Serotonin and Slow-Release 5-Hydroxytryptophan on Gastrointestinal Motility in a Mouse Model of Depression.
Israelyan N, Del Colle A, Li Z, Park Y, Xing A, Jacobsen JPR, Luna RA, Jensen DD, Madra M, Saurman V, Rahim R, Latorre R, Law K, Carson W, Bunnett NW, Caron MG, Margolis KG
Gastroenterology 2019 Aug;157(2):507-521.e4. Epub 2019 May 7 doi: 10.1053/j.gastro.2019.04.022. PMID: 31071306Free PMC Article
Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agent.
Fujimori K, Ishikawa M, Otomo A, Atsuta N, Nakamura R, Akiyama T, Hadano S, Aoki M, Saya H, Sobue G, Okano H
Nat Med 2018 Oct;24(10):1579-1589. Epub 2018 Aug 20 doi: 10.1038/s41591-018-0140-5. PMID: 30127392
Parkinson's Disease: From Pathogenesis to Pharmacogenomics.
Cacabelos R
Int J Mol Sci 2017 Mar 4;18(3) doi: 10.3390/ijms18030551. PMID: 28273839Free PMC Article
Angelman Syndrome.
Margolis SS, Sell GL, Zbinden MA, Bird LM
Neurotherapeutics 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. PMID: 26040994Free PMC Article
Functional organization of the basal ganglia: therapeutic implications for Parkinson's disease.
Obeso JA, Rodríguez-Oroz MC, Benitez-Temino B, Blesa FJ, Guridi J, Marin C, Rodriguez M
Mov Disord 2008;23 Suppl 3:S548-59. doi: 10.1002/mds.22062. PMID: 18781672

Prognosis

The neuropathology of traumatic brain injury.
Mckee AC, Daneshvar DH
Handb Clin Neurol 2015;127:45-66. doi: 10.1016/B978-0-444-52892-6.00004-0. PMID: 25702209Free PMC Article
Giant axonal neuropathy.
Hentati F, Hentati E, Amouri R
Handb Clin Neurol 2013;115:933-8. doi: 10.1016/B978-0-444-52902-2.00052-7. PMID: 23931822
Spinal muscular atrophies.
Viollet L, Melki J
Handb Clin Neurol 2013;113:1395-411. doi: 10.1016/B978-0-444-59565-2.00010-1. PMID: 23622363
The spectrum of disease in chronic traumatic encephalopathy.
McKee AC, Stern RA, Nowinski CJ, Stein TD, Alvarez VE, Daneshvar DH, Lee HS, Wojtowicz SM, Hall G, Baugh CM, Riley DO, Kubilus CA, Cormier KA, Jacobs MA, Martin BR, Abraham CR, Ikezu T, Reichard RR, Wolozin BL, Budson AE, Goldstein LE, Kowall NW, Cantu RC
Brain 2013 Jan;136(Pt 1):43-64. Epub 2012 Dec 2 doi: 10.1093/brain/aws307. PMID: 23208308Free PMC Article
Huntington's disease: from molecular pathogenesis to clinical treatment.
Ross CA, Tabrizi SJ
Lancet Neurol 2011 Jan;10(1):83-98. doi: 10.1016/S1474-4422(10)70245-3. PMID: 21163446

Clinical prediction guides

Motor neuron pathology in CANVAS due to RFC1 expansions.
Huin V, Coarelli G, Guemy C, Boluda S, Debs R, Mochel F, Stojkovic T, Grabli D, Maisonobe T, Gaymard B, Lenglet T, Tard C, Davion JB, Sablonnière B, Monin ML, Ewenczyk C, Viala K, Charles P, Le Ber I, Reilly MM, Houlden H, Cortese A, Seilhean D, Brice A, Durr A
Brain 2022 Jun 30;145(6):2121-2132. doi: 10.1093/brain/awab449. PMID: 34927205
Expanding the KIF4A-associated phenotype.
Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I
Am J Med Genet A 2021 Dec;185(12):3728-3739. Epub 2021 Aug 3 doi: 10.1002/ajmg.a.62443. PMID: 34346154Free PMC Article
Altered Mitochondrial Dynamics in Motor Neuron Disease: An Emerging Perspective.
Kodavati M, Wang H, Hegde ML
Cells 2020 Apr 24;9(4) doi: 10.3390/cells9041065. PMID: 32344665Free PMC Article
Neurons other than motor neurons in motor neuron disease.
Ruffoli R, Biagioni F, Busceti CL, Gaglione A, Ryskalin L, Gambardella S, Frati A, Fornai F
Histol Histopathol 2017 Nov;32(11):1115-1123. Epub 2017 Apr 11 doi: 10.14670/HH-11-895. PMID: 28397197
Pathology of Neurodegenerative Diseases.
Dugger BN, Dickson DW
Cold Spring Harb Perspect Biol 2017 Jul 5;9(7) doi: 10.1101/cshperspect.a028035. PMID: 28062563Free PMC Article

Recent systematic reviews

What do patients with scans without evidence of dopaminergic deficit (SWEDD) have? New evidence and continuing controversies.
Erro R, Schneider SA, Stamelou M, Quinn NP, Bhatia KP
J Neurol Neurosurg Psychiatry 2016 Mar;87(3):319-23. Epub 2015 May 19 doi: 10.1136/jnnp-2014-310256. PMID: 25991401
Nocturnal mechanical ventilation for chronic hypoventilation in patients with neuromuscular and chest wall disorders.
Annane D, Orlikowski D, Chevret S
Cochrane Database Syst Rev 2014 Dec 13;2014(12):CD001941. doi: 10.1002/14651858.CD001941.pub3. PMID: 25503955Free PMC Article
Nocturnal mechanical ventilation for chronic hypoventilation in patients with neuromuscular and chest wall disorders.
Annane D, Orlikowski D, Chevret S, Chevrolet JC, Raphaël JC
Cochrane Database Syst Rev 2007 Oct 17;(4):CD001941. doi: 10.1002/14651858.CD001941.pub2. PMID: 17943762

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