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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

NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold.
Iffland PH, Everett ME, Cobb-Pitstick KM, Bowser LE, Barnes AE, Babus JK, Romanowski AJ, Baybis M, Elziny S, Puffenberger EG, Gonzaga-Jauregui C, Poulopoulos A, Carson VJ, Crino PB
Brain 2022 Nov 21;145(11):3872-3885. doi: 10.1093/brain/awac044. PMID: 35136953Free PMC Article
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
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
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.
Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S, Dorfmüller G, Chipaux M, Baulac S
Acta Neuropathol 2019 Dec;138(6):885-900. Epub 2019 Aug 23 doi: 10.1007/s00401-019-02061-5. PMID: 31444548Free 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

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

Biochemical and clinical aspects of glycogen storage diseases.
Ellingwood SS, Cheng A
J Endocrinol 2018 Sep;238(3):R131-R141. Epub 2018 Jun 6 doi: 10.1530/JOE-18-0120. PMID: 29875163Free PMC Article
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

The LRRK2 G2019S mutation alters astrocyte-to-neuron communication via extracellular vesicles and induces neuron atrophy in a human iPSC-derived model of Parkinson's disease.
de Rus Jacquet A, Tancredi JL, Lemire AL, DeSantis MC, Li WP, O'Shea EK
Elife 2021 Sep 30;10 doi: 10.7554/eLife.73062. PMID: 34590578Free 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
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
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

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
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.
Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S, Dorfmüller G, Chipaux M, Baulac S
Acta Neuropathol 2019 Dec;138(6):885-900. Epub 2019 Aug 23 doi: 10.1007/s00401-019-02061-5. PMID: 31444548Free PMC Article
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
Quantitative MRI for studying neonatal brain development.
Sled JG, Nossin-Manor R
Neuroradiology 2013 Sep;55 Suppl 2:97-104. Epub 2013 Jul 20 doi: 10.1007/s00234-013-1235-9. PMID: 23872867

Recent systematic reviews

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
Can pharmacological and psychological treatment change brain structure and function in PTSD? A systematic review.
Thomaes K, Dorrepaal E, Draijer N, Jansma EP, Veltman DJ, van Balkom AJ
J Psychiatr Res 2014 Mar;50:1-15. Epub 2013 Nov 12 doi: 10.1016/j.jpsychires.2013.11.002. PMID: 24321592
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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