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Neuronal loss in the cerebral cortex

MedGen UID:
340336
Concept ID:
C1849485
Finding
HPO: HP:0007190

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeuronal loss in the cerebral cortex

Conditions with this feature

Pyruvate carboxylase deficiency
MedGen UID:
18801
Concept ID:
C0034341
Disease or Syndrome
Pyruvate carboxylase (PC) deficiency is characterized in most affected individuals by failure to thrive, developmental delay, recurrent seizures, and metabolic acidosis. Three clinical types are recognized: Type A (infantile form), in which most affected children die in infancy or early childhood. Type B (severe neonatal form), in which affected infants have hepatomegaly, pyramidal tract signs, and abnormal movement and die within the first three months of life. Type C (intermittent/benign form), in which affected individuals have normal or mildly delayed neurologic development and episodic metabolic acidosis.
Ferro-cerebro-cutaneous syndrome
MedGen UID:
1658844
Concept ID:
C4751570
Disease or Syndrome
A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth.

Professional guidelines

PubMed

Tang D, Li H, Chen L
Adv Exp Med Biol 2019;1130:109-128. doi: 10.1007/978-981-13-6123-4_7. PMID: 30915704
Keshavarz M
Acta Neuropsychiatr 2017 Jun;29(3):140-152. Epub 2016 Oct 24 doi: 10.1017/neu.2016.56. PMID: 27772534
Shore SE, Roberts LE, Langguth B
Nat Rev Neurol 2016 Mar;12(3):150-60. Epub 2016 Feb 12 doi: 10.1038/nrneurol.2016.12. PMID: 26868680Free PMC Article

Recent clinical studies

Etiology

Targa Dias Anastacio H, Matosin N, Ooi L
Transl Psychiatry 2022 Jun 22;12(1):257. doi: 10.1038/s41398-022-02024-7. PMID: 35732622Free PMC Article
Nakamura T, Zou K, Shibuya Y, Michikawa M
J Neurosci Res 2021 Feb;99(2):518-528. Epub 2020 Nov 8 doi: 10.1002/jnr.24745. PMID: 33164225
Coyle JT, Balu DT, Puhl MD, Konopaske GT
Harv Rev Psychiatry 2016 Mar-Apr;24(2):80-6. doi: 10.1097/HRP.0000000000000102. PMID: 26954593Free PMC Article
Galvan A, Wichmann T
Clin Neurophysiol 2008 Jul;119(7):1459-74. Epub 2008 May 7 doi: 10.1016/j.clinph.2008.03.017. PMID: 18467168Free PMC Article
Harper CG, Kril JJ
Alcohol Alcohol 1990;25(2-3):207-16. doi: 10.1093/oxfordjournals.alcalc.a044994. PMID: 2198036

Diagnosis

Zhang H, Li J, Ren J, Sun S, Ma S, Zhang W, Yu Y, Cai Y, Yan K, Li W, Hu B, Chan P, Zhao GG, Belmonte JCI, Zhou Q, Qu J, Wang S, Liu GH
Protein Cell 2021 Sep;12(9):695-716. Epub 2021 May 30 doi: 10.1007/s13238-021-00852-9. PMID: 34052996Free PMC Article
Horton JC, Economides JR, Adams DL
Annu Rev Vis Sci 2021 Sep 15;7:155-179. Epub 2021 May 12 doi: 10.1146/annurev-vision-100119-125406. PMID: 33979527Free PMC Article
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
Hikmat O, Eichele T, Tzoulis C, Bindoff LA
Int J Mol Sci 2017 Aug 24;18(9) doi: 10.3390/ijms18091845. PMID: 28837072Free PMC Article
Woo TU
Curr Top Behav Neurosci 2014;16:267-95. doi: 10.1007/7854_2013_243. PMID: 23975845Free PMC Article

Therapy

Nakamura T, Zou K, Shibuya Y, Michikawa M
J Neurosci Res 2021 Feb;99(2):518-528. Epub 2020 Nov 8 doi: 10.1002/jnr.24745. PMID: 33164225
Tang D, Li H, Chen L
Adv Exp Med Biol 2019;1130:109-128. doi: 10.1007/978-981-13-6123-4_7. PMID: 30915704
Hampel H, Mesulam MM, Cuello AC, Khachaturian AS, Vergallo A, Farlow MR, Snyder PJ, Giacobini E, Khachaturian ZS
J Prev Alzheimers Dis 2019;6(1):2-15. doi: 10.14283/jpad.2018.43. PMID: 30569080
Shore SE, Roberts LE, Langguth B
Nat Rev Neurol 2016 Mar;12(3):150-60. Epub 2016 Feb 12 doi: 10.1038/nrneurol.2016.12. PMID: 26868680Free PMC Article
Yoshiyama Y, Higuchi M, Zhang B, Huang SM, Iwata N, Saido TC, Maeda J, Suhara T, Trojanowski JQ, Lee VM
Neuron 2007 Feb 1;53(3):337-51. doi: 10.1016/j.neuron.2007.01.010. PMID: 17270732

Prognosis

Larner AJ
Cortex 2022 Apr;149:137-147. Epub 2022 Jan 31 doi: 10.1016/j.cortex.2022.01.011. PMID: 35228100
Alzaher M, Vannson N, Deguine O, Marx M, Barone P, Strelnikov K
Rev Neurol (Paris) 2021 Nov;177(9):1121-1132. Epub 2021 Oct 15 doi: 10.1016/j.neurol.2021.09.004. PMID: 34657730
Carbonell AU, Cho CH, Tindi JO, Counts PA, Bates JC, Erdjument-Bromage H, Cvejic S, Iaboni A, Kvint I, Rosensaft J, Banne E, Anagnostou E, Neubert TA, Scherer SW, Molholm S, Jordan BA
Nat Commun 2019 Aug 6;10(1):3529. doi: 10.1038/s41467-019-11437-w. PMID: 31388001Free PMC Article
Irvine DRF
Hear Res 2018 May;362:61-73. Epub 2017 Oct 31 doi: 10.1016/j.heares.2017.10.011. PMID: 29126650
Woo TU
Curr Top Behav Neurosci 2014;16:267-95. doi: 10.1007/7854_2013_243. PMID: 23975845Free PMC Article

Clinical prediction guides

Popov A, Brazhe N, Morozova K, Yashin K, Bychkov M, Nosova O, Sutyagina O, Brazhe A, Parshina E, Li L, Medyanik I, Korzhevskii DE, Shenkarev Z, Lyukmanova E, Verkhratsky A, Semyanov A
Nat Commun 2023 Dec 16;14(1):8380. doi: 10.1038/s41467-023-44192-0. PMID: 38104196Free PMC Article
Yamamoto Y, Hase Y, Ihara M, Khundakar A, Roeber S, Duering M, Kalaria RN
Neurobiol Aging 2021 Jan;97:33-40. Epub 2020 Oct 1 doi: 10.1016/j.neurobiolaging.2020.09.016. PMID: 33130454Free PMC Article
Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K
Am J Hum Genet 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002. PMID: 33157009Free PMC Article
Jeong S
Mol Cells 2017 Sep 30;40(9):613-620. Epub 2017 Sep 20 doi: 10.14348/molcells.2017.0096. PMID: 28927263Free PMC Article
Woo TU
Curr Top Behav Neurosci 2014;16:267-95. doi: 10.1007/7854_2013_243. PMID: 23975845Free PMC Article

Recent systematic reviews

Teruel-Peña B, Gómez-Urquiza JL, Suleiman-Martos N, Prieto I, García-Cózar FJ, Ramírez-Sánchez M, Fernández-Martos C, Domínguez-Vías G
Int J Mol Sci 2023 Apr 12;24(8) doi: 10.3390/ijms24087169. PMID: 37108335Free PMC Article
Peres R, De Guio F, Chabriat H, Jouvent E
J Cereb Blood Flow Metab 2016 Apr;36(4):681-95. Epub 2016 Jan 19 doi: 10.1177/0271678X15625352. PMID: 26787108Free PMC Article
Steve TA, Jirsch JD, Gross DW
Epilepsy Res 2014 Oct;108(8):1279-85. Epub 2014 Jul 23 doi: 10.1016/j.eplepsyres.2014.07.003. PMID: 25107686
James A, James C, Thwaites T
Psychiatry Res 2013 Dec 30;214(3):181-9. Epub 2013 Oct 17 doi: 10.1016/j.pscychresns.2013.07.012. PMID: 24139960
Brugger S, Davis JM, Leucht S, Stone JM
Biol Psychiatry 2011 Mar 1;69(5):495-503. Epub 2010 Dec 8 doi: 10.1016/j.biopsych.2010.10.004. PMID: 21145039

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