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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 Zheng et al., 2022). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).

Professional guidelines

PubMed

Ainslie AP, Klaver M, Voshart DC, Gerrits E, den Dunnen WFA, Eggen BJL, Bergink S, Barazzuol L
Aging Cell 2024 Mar;23(3):e14066. Epub 2024 Jan 17 doi: 10.1111/acel.14066. PMID: 38234228Free PMC Article

Recent clinical studies

Etiology

Guo JL, Braun D, Fitzgerald GA, Hsieh YT, Rougé L, Litvinchuk A, Steffek M, Propson NE, Heffner CM, Discenza C, Han SJ, Rana A, Skuja LL, Lin BQ, Sun EW, Davis SS, Balasundar S, Becerra I, Dugas JC, Ha C, Hsiao-Nakamoto J, Huang F, Jain S, Kung JE, Liau NPD, Mahon CS, Nguyen HN, Nguyen N, Samaddar M, Shi Y, Tatarakis D, Tian Y, Zhu Y, Suh JH, Sandmann T, Calvert MEK, Arguello A, Kane LA, Lewcock JW, Holtzman DM, Koth CM, Di Paolo G
Cell 2025 Jan 9;188(1):187-206.e26. Epub 2024 Nov 11 doi: 10.1016/j.cell.2024.10.027. PMID: 39532095Free PMC Article
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
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
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
Schipper HM
Glia 1991;4(4):365-77. doi: 10.1002/glia.440040404. PMID: 1718859

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
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
Tackmann W, Kuhlendahl D
Eur Neurol 1979;18(4):234-42. doi: 10.1159/000115082. PMID: 488141

Therapy

Zhang F, Ye Z, Xie Y, Liu M, Zhang L, Zhang J, Xu Z
Biometals 2024 Dec;37(6):1307-1323. Epub 2024 Aug 30 doi: 10.1007/s10534-024-00628-8. PMID: 39212870
Sevigny J, Uspenskaya O, Heckman LD, Wong LC, Hatch DA, Tewari A, Vandenberghe R, Irwin DJ, Saracino D, Le Ber I, Ahmed R, Rohrer JD, Boxer AL, Boland S, Sheehan P, Brandes A, Burstein SR, Shykind BM, Kamalakaran S, Daniels CW, David Litwack E, Mahoney E, Velaga J, McNamara I, Sondergaard P, Sajjad SA, Kobayashi YM, Abeliovich A, Hefti F
Nat Med 2024 May;30(5):1406-1415. Epub 2024 May 14 doi: 10.1038/s41591-024-02973-0. PMID: 38745011Free PMC Article
Liu J, Zhang Y, Lai CJ, Xie J
J Agric Food Chem 2023 Dec 27;71(51):20724-20734. Epub 2023 Dec 14 doi: 10.1021/acs.jafc.3c06430. PMID: 38098161
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

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
Liu J, Zhang Y, Lai CJ, Xie J
J Agric Food Chem 2023 Dec 27;71(51):20724-20734. Epub 2023 Dec 14 doi: 10.1021/acs.jafc.3c06430. PMID: 38098161
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
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

Clinical prediction guides

Guo JL, Braun D, Fitzgerald GA, Hsieh YT, Rougé L, Litvinchuk A, Steffek M, Propson NE, Heffner CM, Discenza C, Han SJ, Rana A, Skuja LL, Lin BQ, Sun EW, Davis SS, Balasundar S, Becerra I, Dugas JC, Ha C, Hsiao-Nakamoto J, Huang F, Jain S, Kung JE, Liau NPD, Mahon CS, Nguyen HN, Nguyen N, Samaddar M, Shi Y, Tatarakis D, Tian Y, Zhu Y, Suh JH, Sandmann T, Calvert MEK, Arguello A, Kane LA, Lewcock JW, Holtzman DM, Koth CM, Di Paolo G
Cell 2025 Jan 9;188(1):187-206.e26. Epub 2024 Nov 11 doi: 10.1016/j.cell.2024.10.027. PMID: 39532095Free PMC Article
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
Autio-Harmainen H, Oldfors A, Sourander P, Renlund M, Dammert K, Similä S
Acta Neuropathol 1988;75(5):481-90. doi: 10.1007/BF00687135. PMID: 3287834
Kerckaert I, Dingemans KP, Heymans HS, Vamecq J, Roels F
J Inherit Metab Dis 1988;11(4):372-86. doi: 10.1007/BF01800426. PMID: 2468818
Vaquero J, Oya S, Manrique M, Buján J, Lozano AP, Bravo G
Acta Neurochir (Wien) 1979;46(3-4):233-41. doi: 10.1007/BF01430585. PMID: 463599

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