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Increased cerebral lipofuscin

MedGen UID:
868772
Concept ID:
C4023177
Finding
HPO: HP:0011813

Definition

Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. [from HPO]

Conditions with this feature

Gaucher disease due to saposin C deficiency
MedGen UID:
350479
Concept ID:
C1864651
Disease or Syndrome
Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.
Combined oxidative phosphorylation defect type 21
MedGen UID:
1638633
Concept ID:
C4706316
Disease or Syndrome
Combined oxidative phosphorylation deficiency-21 (COXPD21) is an autosomal recessive disorder characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy and early death or by onset after 6 months of life with a milder course and longer survival (summary by et al., 2021) For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).

Recent clinical studies

Etiology

Villalón-García I, Álvarez-Córdoba M, Povea-Cabello S, Talaverón-Rey M, Villanueva-Paz M, Luzón-Hidalgo R, Suárez-Rivero JM, Suárez-Carrillo A, Munuera-Cabeza M, Salas JJ, Falcón-Moya R, Rodríguez-Moreno A, Armengol JA, Sánchez-Alcázar JA
Neurobiol Dis 2022 Apr;165:105649. Epub 2022 Feb 2 doi: 10.1016/j.nbd.2022.105649. PMID: 35122944
Uranova NA, Vikhreva OV, Rakhmanova VI
Asian J Psychiatr 2021 Sep;63:102752. Epub 2021 Jul 9 doi: 10.1016/j.ajp.2021.102752. PMID: 34274629
Kohlschütter A, Schulz A
Brain Dev 2009 Aug;31(7):499-502. Epub 2009 Feb 4 doi: 10.1016/j.braindev.2008.12.008. PMID: 19195801
Keller JN
Ageing Res Rev 2006 Feb;5(1):1-13. Epub 2005 Aug 9 doi: 10.1016/j.arr.2005.06.002. PMID: 16084778
Bernardis LL, Davis PJ
Physiol Behav 1996 Mar;59(3):523-36. doi: 10.1016/0031-9384(95)02101-9. PMID: 8700956

Diagnosis

Black D, Kaneko S, Walke A, König S, Stummer W, Suero Molina E
Sci Rep 2021 Oct 8;11(1):20009. doi: 10.1038/s41598-021-99228-6. PMID: 34625597Free PMC Article
Hakvoort K, Otto L, Haeren R, Hoogland G, Schijns O, Vink H, Klein D, van Zandvoort M, Rijkers K
J Comp Neurol 2021 Feb;529(3):605-615. Epub 2020 Sep 19 doi: 10.1002/cne.24971. PMID: 32592169
Bax NM, Lambertus S, Cremers FPM, Klevering BJ, Hoyng CB
Graefes Arch Clin Exp Ophthalmol 2019 Jun;257(6):1147-1157. Epub 2019 Mar 22 doi: 10.1007/s00417-019-04280-8. PMID: 30903310
Chmátalová Z, Vyhnálek M, Laczó J, Hort J, Skoumalová A
J Cell Mol Med 2016 Jul;20(7):1367-72. Epub 2016 Mar 16 doi: 10.1111/jcmm.12824. PMID: 26991927Free PMC Article
Kohlschütter A, Schulz A
Brain Dev 2009 Aug;31(7):499-502. Epub 2009 Feb 4 doi: 10.1016/j.braindev.2008.12.008. PMID: 19195801

Therapy

Álvarez-Córdoba M, Fernández Khoury A, Villanueva-Paz M, Gómez-Navarro C, Villalón-García I, Suárez-Rivero JM, Povea-Cabello S, de la Mata M, Cotán D, Talaverón-Rey M, Pérez-Pulido AJ, Salas JJ, Pérez-Villegas EM, Díaz-Quintana A, Armengol JA, Sánchez-Alcázar JA
Mol Neurobiol 2019 May;56(5):3638-3656. Epub 2018 Sep 1 doi: 10.1007/s12035-018-1333-0. PMID: 30173408
Kohlschütter A, Schulz A
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:682-8. PMID: 27491216
Calderón-Garcidueñas L, Reynoso-Robles R, Vargas-Martínez J, Gómez-Maqueo-Chew A, Pérez-Guillé B, Mukherjee PS, Torres-Jardón R, Perry G, Gónzalez-Maciel A
Environ Res 2016 Apr;146:404-17. Epub 2016 Jan 30 doi: 10.1016/j.envres.2015.12.031. PMID: 26829765
Battisti C, Dotti MT, Formichi P, Bonuccelli U, Malandrini A, Carrai M, Tripodi SA, Federico A
J Submicrosc Cytol Pathol 1996 Jul;28(3):339-44. PMID: 8765578
Figols J, Cervós-Navarro J, Wolman M
Histol Histopathol 1986 Jan;1(1):59-67. PMID: 2980102

Prognosis

Keller SH, Johnson GS, Bullock G, Mhlanga-Mutangadura T, Schwartz M, Pattridge SG, Guo J, Kortz GD, Katz ML
Genes (Basel) 2024 Feb 15;15(2) doi: 10.3390/genes15020246. PMID: 38397235Free PMC Article
Uranova NA, Vikhreva OV, Rakhmanova VI
Asian J Psychiatr 2021 Sep;63:102752. Epub 2021 Jul 9 doi: 10.1016/j.ajp.2021.102752. PMID: 34274629
Maynard KR, Tippani M, Takahashi Y, Phan BN, Hyde TM, Jaffe AE, Martinowich K
Nucleic Acids Res 2020 Jun 19;48(11):e66. doi: 10.1093/nar/gkaa312. PMID: 32383753Free PMC Article
Chmatalova Z, Vyhnalek M, Laczo J, Hort J, Pospisilova R, Pechova M, Skoumalova A
Physiol Res 2017 Dec 20;66(6):1049-1056. Epub 2017 Sep 22 doi: 10.33549/physiolres.933601. PMID: 28937243
Galassi G, Gentilini M, Ferrari S, Ficarra G, Zonari P, Mongiardo N, Tommelleri G, Di Rienzo B
Clin Neuropathol 1998 May-Jun;17(3):131-5. PMID: 9625304

Clinical prediction guides

Keller SH, Johnson GS, Bullock G, Mhlanga-Mutangadura T, Schwartz M, Pattridge SG, Guo J, Kortz GD, Katz ML
Genes (Basel) 2024 Feb 15;15(2) doi: 10.3390/genes15020246. PMID: 38397235Free PMC Article
Hakvoort K, Otto L, Haeren R, Hoogland G, Schijns O, Vink H, Klein D, van Zandvoort M, Rijkers K
J Comp Neurol 2021 Feb;529(3):605-615. Epub 2020 Sep 19 doi: 10.1002/cne.24971. PMID: 32592169
Baquer NZ, Taha A, Kumar P, McLean P, Cowsik SM, Kale RK, Singh R, Sharma D
Biogerontology 2009 Aug;10(4):377-413. Epub 2009 Apr 21 doi: 10.1007/s10522-009-9226-2. PMID: 19381858
Keller JN
Ageing Res Rev 2006 Feb;5(1):1-13. Epub 2005 Aug 9 doi: 10.1016/j.arr.2005.06.002. PMID: 16084778
Anderton BH
Philos Trans R Soc Lond B Biol Sci 1997 Dec 29;352(1363):1781-92. doi: 10.1098/rstb.1997.0162. PMID: 9460061Free PMC Article

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