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Cerebral lipidosis with dementia

MedGen UID:
1825994
•Concept ID:
C5681730
•
Disease or Syndrome
Synonyms: cerebral lipidosis; cerebral lipidosis with dementia
 
Monarch Initiative: MONDO:0020143
Orphanet: ORPHA98544

Professional guidelines

PubMed

mRNA Treatment Rescues Niemann-Pick Disease Type C1 in Patient Fibroblasts.
Furtado D, Cortez-Jugo C, Hung YH, Bush AI, Caruso F
Mol Pharm 2022 Nov 7;19(11):3987-3999. Epub 2022 Sep 20 doi: 10.1021/acs.molpharmaceut.2c00463. PMID: 36125338
Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses.
Kohlschütter A, Schulz A, Bartsch U, Storch S
CNS Drugs 2019 Apr;33(4):315-325. doi: 10.1007/s40263-019-00620-8. PMID: 30877620Free PMC Article
Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options.
Ludolph AC, Kassubek J, Landwehrmeyer BG, Mandelkow E, Mandelkow EM, Burn DJ, Caparros-Lefebvre D, Frey KA, de Yebenes JG, Gasser T, Heutink P, Höglinger G, Jamrozik Z, Jellinger KA, Kazantsev A, Kretzschmar H, Lang AE, Litvan I, Lucas JJ, McGeer PL, Melquist S, Oertel W, Otto M, Paviour D, Reum T, Saint-Raymond A, Steele JC, Tolnay M, Tumani H, van Swieten JC, Vanier MT, Vonsattel JP, Wagner S, Wszolek ZK; Reisensburg Working Group for Tauopathies With Parkinsonism
Eur J Neurol 2009 Mar;16(3):297-309. doi: 10.1111/j.1468-1331.2008.02513.x. PMID: 19364361Free PMC Article

Recent clinical studies

Etiology

The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1.
Gustavsson EK, Sethi S, Gao Y, Brenton JW, García-Ruiz S, Zhang D, Garza R, Reynolds RH, Evans JR, Chen Z, Grant-Peters M, Macpherson H, Montgomery K, Dore R, Wernick AI, Arber C, Wray S, Gandhi S, Esselborn J, Blauwendraat C, Douse CH, Adami A, Atacho DAM, Kouli A, Quaegebeur A, Barker RA, Englund E, Platt F, Jakobsson J, Wood NW, Houlden H, Saini H, Bento CF, Hardy J, Ryten M
Sci Adv 2024 Jun 28;10(26):eadk1296. Epub 2024 Jun 26 doi: 10.1126/sciadv.adk1296. PMID: 38924406Free PMC Article
Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses.
Gammaldi N, Pezzini F, Michelucci E, Di Giorgi N, Simonati A, Rocchiccioli S, Santorelli FM, Doccini S
Neurobiol Dis 2023 Dec;189:106349. Epub 2023 Nov 11 doi: 10.1016/j.nbd.2023.106349. PMID: 37952681
Gene Therapy for Parkinson's Disease Associated with GBA1 Mutations.
Abeliovich A, Hefti F, Sevigny J
J Parkinsons Dis 2021;11(s2):S183-S188. doi: 10.3233/JPD-212739. PMID: 34151863Free PMC Article
Pharmacological approaches to tackle NCLs.
Kauss V, Dambrova M, Medina DL
Biochim Biophys Acta Mol Basis Dis 2020 Sep 1;1866(9):165553. Epub 2019 Sep 12 doi: 10.1016/j.bbadis.2019.165553. PMID: 31521819
The neuronal ceroid-lipofuscinoses.
Goebel HH
Semin Pediatr Neurol 1996 Dec;3(4):270-8. doi: 10.1016/s1071-9091(96)80031-3. PMID: 8969009

Diagnosis

Monogenic Causes of Strokes.
Chojdak-Łukasiewicz J, Dziadkowiak E, Budrewicz S
Genes (Basel) 2021 Nov 23;12(12) doi: 10.3390/genes12121855. PMID: 34946804Free PMC Article
Single Gene Causes of Stroke.
Majersik JJ
Semin Neurol 2017 Jun;37(3):351-365. Epub 2017 Jul 31 doi: 10.1055/s-0037-1603952. PMID: 28759916
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
The neuronal ceroid-lipofuscinoses.
Goebel HH
Semin Pediatr Neurol 1996 Dec;3(4):270-8. doi: 10.1016/s1071-9091(96)80031-3. PMID: 8969009
Myoclonus and the electroencephalogram, a review.
Niedermeyer E, Fineyre F, Riley T, Bird B
Clin Electroencephalogr 1979 Apr;10(2):75-95. doi: 10.1177/155005947901000206. PMID: 110503

Therapy

Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.
Naseri N, Sharma M, Velinov M
Clin Genet 2021 Jan;99(1):111-118. Epub 2020 Aug 26 doi: 10.1111/cge.13829. PMID: 32783189Free PMC Article
Pharmacological approaches to tackle NCLs.
Kauss V, Dambrova M, Medina DL
Biochim Biophys Acta Mol Basis Dis 2020 Sep 1;1866(9):165553. Epub 2019 Sep 12 doi: 10.1016/j.bbadis.2019.165553. PMID: 31521819
CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).
Kohlschütter A, Schulz A
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:682-8. PMID: 27491216
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.
Kohan R, Cismondi IA, Oller-Ramirez AM, Guelbert N, Anzolini TV, Alonso G, Mole SE, de Kremer DR, de Halac NI
Curr Pharm Biotechnol 2011 Jun;12(6):867-83. doi: 10.2174/138920111795542633. PMID: 21235444Free PMC Article
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Prognosis

ABCA7 and the altered lipidostasis hypothesis of Alzheimer's disease.
Lyssenko NN, Praticò D
Alzheimers Dement 2021 Feb;17(2):164-174. Epub 2020 Dec 17 doi: 10.1002/alz.12220. PMID: 33336544Free PMC Article
Glucocerebrosidase as a therapeutic target for Parkinson's disease.
Chen Y, Sam R, Sharma P, Chen L, Do J, Sidransky E
Expert Opin Ther Targets 2020 Apr;24(4):287-294. Epub 2020 Feb 27 doi: 10.1080/14728222.2020.1733970. PMID: 32106725Free PMC Article
NCL diseases - clinical perspectives.
Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R
Biochim Biophys Acta 2013 Nov;1832(11):1801-6. Epub 2013 Apr 17 doi: 10.1016/j.bbadis.2013.04.008. PMID: 23602993Free PMC Article
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
Genetics of cerebrovascular disorders.
Meschia JF, Brott TG, Brown RD Jr
Mayo Clin Proc 2005 Jan;80(1):122-32. doi: 10.1016/S0025-6196(11)62969-8. PMID: 15667040

Clinical prediction guides

Investigation of Brain Iron in Niemann-Pick Type C: A 7T Quantitative Susceptibility Mapping Study.
Ravanfar P, Syeda WT, Rushmore RJ, Moffat B, Lyall AE, Merritt AH, Devenyi GA, Chakravarty MM, Desmond P, Cropley VL, Makris N, Shenton ME, Bush AI, Velakoulis D, Pantelis C, Walterfang M
AJNR Am J Neuroradiol 2023 Jul;44(7):768-775. Epub 2023 Jun 22 doi: 10.3174/ajnr.A7894. PMID: 37348967Free PMC Article
ABCA7 and the altered lipidostasis hypothesis of Alzheimer's disease.
Lyssenko NN, Praticò D
Alzheimers Dement 2021 Feb;17(2):164-174. Epub 2020 Dec 17 doi: 10.1002/alz.12220. PMID: 33336544Free PMC Article
Go Fly a Chitin: The Mystery of Chitin and Chitinases in Vertebrate Tissues.
Stern R
Front Biosci (Landmark Ed) 2017 Jan 1;22(4):580-595. doi: 10.2741/4504. PMID: 27814634
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
Cholesterol involvement in the pathogenesis of neurodegenerative diseases.
Liu JP, Tang Y, Zhou S, Toh BH, McLean C, Li H
Mol Cell Neurosci 2010 Jan;43(1):33-42. Epub 2009 Aug 4 doi: 10.1016/j.mcn.2009.07.013. PMID: 19660552

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