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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.
See: Condition Record
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).
See: Condition Record
Combined oxidative phosphorylation defect type 21
Gaucher disease due to saposin C deficiency

Professional guidelines

PubMed

Glioblastoma and its treatment are associated with extensive accelerated brain aging.
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

Vitamin E prevents lipid peroxidation and iron accumulation in PLA2G6-Associated Neurodegeneration.
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
Abnormal microglial reactivity in gray matter of the prefrontal cortex in schizophrenia.
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
A metabolic and functional overview of brain aging linked to neurological disorders.
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
Towards understanding the neuronal ceroid lipofuscinoses.
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
Age-related neuropathology, cognitive decline, and Alzheimer's disease.
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

Diagnosis

Characterization of autofluorescence and quantitative protoporphyrin IX biomarkers for optical spectroscopy-guided glioma surgery.
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
Shedding light on human cerebral lipofuscin: An explorative study on identification and quantification.
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
The absence of fundus abnormalities in Stargardt disease.
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
Towards understanding the neuronal ceroid lipofuscinoses.
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
Lysosomal abnormalities in degenerating neurons link neuronal compromise to senile plaque development in Alzheimer disease.
Cataldo AM, Hamilton DJ, Nixon RA
Brain Res 1994 Mar 21;640(1-2):68-80. doi: 10.1016/0006-8993(94)91858-9. PMID: 8004466

Therapy

Progranulin AAV gene therapy for frontotemporal dementia: translational studies and phase 1/2 trial interim results.
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
Multitarget Protective Effects of JUB on Aβ-Induced Neurotoxicity and the Mechanism Predication Using Network Pharmacology Analysis.
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
CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).
Kohlschütter A, Schulz A
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:682-8. PMID: 27491216
Disappearance of skin lipofuscin storage and marked clinical improvement in adult onset coeliac disease and severe vitamin E deficiency after chronic vitamin E megatherapy.
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
Biochemical and clinical effects of an antioxidative supplementation of geriatric patients. A double blind study.
Clausen J, Nielsen SA, Kristensen M
Biol Trace Elem Res 1989 Apr-May;20(1-2):135-51. doi: 10.1007/BF02919106. PMID: 2484393

Prognosis

Homozygous CNP Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions.
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
Multitarget Protective Effects of JUB on Aβ-Induced Neurotoxicity and the Mechanism Predication Using Network Pharmacology Analysis.
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
Abnormal microglial reactivity in gray matter of the prefrontal cortex in schizophrenia.
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
dotdotdot: an automated approach to quantify multiplex single molecule fluorescent in situ hybridization (smFISH) images in complex tissues.
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
Motor neuron disease and HIV-1 infection in a 30-year-old HIV-positive heroin abuser: a causal relationship?
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

Homozygous CNP Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions.
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
Shedding light on human cerebral lipofuscin: An explorative study on identification and quantification.
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
Ultrastructural pathology of human peritumoural oedematous cerebellar cortex.
Castejón OJ
Folia Neuropathol 2016;54(2):127-36. doi: 10.5114/fn.2016.60057. PMID: 27543770
A metabolic and functional overview of brain aging linked to neurological disorders.
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
Age-related neuropathology, cognitive decline, and Alzheimer's disease.
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

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