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Abnormal neuron morphology

MedGen UID:
868345
•Concept ID:
C4022739
•
Anatomical Abnormality
Synonyms: Abnormal neuron shape; Abnormal neuronal morphology
 
HPO: HP:0012757

Definition

A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions. [from HPO]

Professional guidelines

PubMed

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
Central post-stroke pain: clinical characteristics, pathophysiology, and management.
Klit H, Finnerup NB, Jensen TS
Lancet Neurol 2009 Sep;8(9):857-68. doi: 10.1016/S1474-4422(09)70176-0. PMID: 19679277
Pathogenesis and management of pain in osteoarthritis.
Dieppe PA, Lohmander LS
Lancet 2005 Mar 12-18;365(9463):965-73. doi: 10.1016/S0140-6736(05)71086-2. PMID: 15766999

Recent clinical studies

Etiology

Autism genes converge on asynchronous development of shared neuron classes.
Paulsen B, Velasco S, Kedaigle AJ, Pigoni M, Quadrato G, Deo AJ, Adiconis X, Uzquiano A, Sartore R, Yang SM, Simmons SK, Symvoulidis P, Kim K, Tsafou K, Podury A, Abbate C, Tucewicz A, Smith SN, Albanese A, Barrett L, Sanjana NE, Shi X, Chung K, Lage K, Boyden ES, Regev A, Levin JZ, Arlotta P
Nature 2022 Feb;602(7896):268-273. Epub 2022 Feb 2 doi: 10.1038/s41586-021-04358-6. PMID: 35110736Free PMC Article
Neuronal Migration Disorders.
Roberts B
Radiol Technol 2018 Jan;89(3):279-295. PMID: 29298944
Epigenetics in epilepsy.
Kobow K, Blümcke I
Neurosci Lett 2018 Feb 22;667:40-46. Epub 2017 Jan 19 doi: 10.1016/j.neulet.2017.01.012. PMID: 28111355
Autism spectrum disorder: neuropathology and animal models.
Varghese M, Keshav N, Jacot-Descombes S, Warda T, Wicinski B, Dickstein DL, Harony-Nicolas H, De Rubeis S, Drapeau E, Buxbaum JD, Hof PR
Acta Neuropathol 2017 Oct;134(4):537-566. Epub 2017 Jun 5 doi: 10.1007/s00401-017-1736-4. PMID: 28584888Free PMC Article
Neuronal migration disorders.
Guerrini R, Parrini E
Neurobiol Dis 2010 May;38(2):154-66. Epub 2009 Feb 23 doi: 10.1016/j.nbd.2009.02.008. PMID: 19245832

Diagnosis

Neuronal defects in a human cellular model of 22q11.2 deletion syndrome.
Khan TA, Revah O, Gordon A, Yoon SJ, Krawisz AK, Goold C, Sun Y, Kim CH, Tian Y, Li MY, Schaepe JM, Ikeda K, Amin ND, Sakai N, Yazawa M, Kushan L, Nishino S, Porteus MH, Rapoport JL, Bernstein JA, O'Hara R, Bearden CE, Hallmayer JF, Huguenard JR, Geschwind DH, Dolmetsch RE, Paşca SP
Nat Med 2020 Dec;26(12):1888-1898. Epub 2020 Sep 28 doi: 10.1038/s41591-020-1043-9. PMID: 32989314Free PMC Article
Autism spectrum disorder: neuropathology and animal models.
Varghese M, Keshav N, Jacot-Descombes S, Warda T, Wicinski B, Dickstein DL, Harony-Nicolas H, De Rubeis S, Drapeau E, Buxbaum JD, Hof PR
Acta Neuropathol 2017 Oct;134(4):537-566. Epub 2017 Jun 5 doi: 10.1007/s00401-017-1736-4. PMID: 28584888Free 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
Migraine: multiple processes, complex pathophysiology.
Burstein R, Noseda R, Borsook D
J Neurosci 2015 Apr 29;35(17):6619-29. doi: 10.1523/JNEUROSCI.0373-15.2015. PMID: 25926442Free PMC Article
The developmental etiology and pathogenesis of Hirschsprung disease.
Butler Tjaden NE, Trainor PA
Transl Res 2013 Jul;162(1):1-15. Epub 2013 Mar 22 doi: 10.1016/j.trsl.2013.03.001. PMID: 23528997Free PMC Article

Therapy

Dystonia.
Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP
Nat Rev Dis Primers 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6. PMID: 30237473
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
Amyloid-β and tau: the trigger and bullet in Alzheimer disease pathogenesis.
Bloom GS
JAMA Neurol 2014 Apr;71(4):505-8. doi: 10.1001/jamaneurol.2013.5847. PMID: 24493463
Molecular dissection of reactive astrogliosis and glial scar formation.
Sofroniew MV
Trends Neurosci 2009 Dec;32(12):638-47. Epub 2009 Sep 24 doi: 10.1016/j.tins.2009.08.002. PMID: 19782411Free PMC Article

Prognosis

Neuroprotective Effect of Antioxidants in the Brain.
Lee KH, Cha M, Lee BH
Int J Mol Sci 2020 Sep 28;21(19) doi: 10.3390/ijms21197152. PMID: 32998277Free PMC Article
The dark matter of the brain.
Ovsepian SV
Brain Struct Funct 2019 Apr;224(3):973-983. Epub 2019 Jan 18 doi: 10.1007/s00429-019-01835-7. PMID: 30659350
Epigenetics in epilepsy.
Kobow K, Blümcke I
Neurosci Lett 2018 Feb 22;667:40-46. Epub 2017 Jan 19 doi: 10.1016/j.neulet.2017.01.012. PMID: 28111355
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
Familial dysautonomia.
Axelrod FB
Muscle Nerve 2004 Mar;29(3):352-63. doi: 10.1002/mus.10499. PMID: 14981733

Clinical prediction guides

Depressive patient-derived GABA interneurons reveal abnormal neural activity associated with HTR2C.
Lu K, Hong Y, Tao M, Shen L, Zheng Z, Fang K, Yuan F, Xu M, Wang C, Zhu D, Guo X, Liu Y
EMBO Mol Med 2023 Jan 11;15(1):e16364. Epub 2022 Nov 14 doi: 10.15252/emmm.202216364. PMID: 36373384Free PMC Article
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
Cellular and regional vulnerability in frontotemporal tauopathies.
Forrest SL, Kril JJ, Halliday GM
Acta Neuropathol 2019 Nov;138(5):705-727. Epub 2019 Jun 15 doi: 10.1007/s00401-019-02035-7. PMID: 31203391
Epigenetics in epilepsy.
Kobow K, Blümcke I
Neurosci Lett 2018 Feb 22;667:40-46. Epub 2017 Jan 19 doi: 10.1016/j.neulet.2017.01.012. PMID: 28111355
Assembly of functionally integrated human forebrain spheroids.
Birey F, Andersen J, Makinson CD, Islam S, Wei W, Huber N, Fan HC, Metzler KRC, Panagiotakos G, Thom N, O'Rourke NA, Steinmetz LM, Bernstein JA, Hallmayer J, Huguenard JR, Paşca SP
Nature 2017 May 4;545(7652):54-59. Epub 2017 Apr 26 doi: 10.1038/nature22330. PMID: 28445465Free PMC Article

Recent systematic reviews

Elucidating the Role of Cerebellar Synaptic Dysfunction in C9orf72-ALS/FTD - a Systematic Review and Meta-Analysis.
Kaliszewska A, Allison J, Col TT, Shaw C, Arias N
Cerebellum 2022 Aug;21(4):681-714. Epub 2021 Sep 7 doi: 10.1007/s12311-021-01320-0. PMID: 34491551Free PMC Article
Cellular models to study bipolar disorder: A systematic review.
Viswanath B, Jose SP, Squassina A, Thirthalli J, Purushottam M, Mukherjee O, Vladimirov V, Patrinos GP, Del Zompo M, Jain S
J Affect Disord 2015 Sep 15;184:36-50. Epub 2015 May 28 doi: 10.1016/j.jad.2015.05.037. PMID: 26070045
Neuroinflammation and white matter pathology in schizophrenia: systematic review.
Najjar S, Pearlman DM
Schizophr Res 2015 Jan;161(1):102-12. Epub 2014 Jun 16 doi: 10.1016/j.schres.2014.04.041. PMID: 24948485
Neuroimaging predictors of transition to psychosis--a systematic review and meta-analysis.
Smieskova R, Fusar-Poli P, Allen P, Bendfeldt K, Stieglitz RD, Drewe J, Radue EW, McGuire PK, Riecher-Rössler A, Borgwardt SJ
Neurosci Biobehav Rev 2010 Jul;34(8):1207-22. Epub 2010 Feb 6 doi: 10.1016/j.neubiorev.2010.01.016. PMID: 20144653
Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.
Autti T, Joensuu R, Aberg L
Neuroradiology 2007 Jul;49(7):571-8. Epub 2007 Mar 3 doi: 10.1007/s00234-007-0220-6. PMID: 17334752

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