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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

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
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
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

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
Abeliovich A, Hefti F, Sevigny J
J Parkinsons Dis 2021;11(s2):S183-S188. doi: 10.3233/JPD-212739. PMID: 34151863Free PMC Article
Wojtal K, Trojnar MK, Czuczwar SJ
Pharmacol Rep 2006 May-Jun;58(3):335-40. PMID: 16845207
Tyynelä J, Suopanki J
Neurol Sci 2000;21(3 Suppl):S21-5. doi: 10.1007/s100720070036. PMID: 11073224
Goebel HH
Semin Pediatr Neurol 1996 Dec;3(4):270-8. doi: 10.1016/s1071-9091(96)80031-3. PMID: 8969009

Diagnosis

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

Therapy

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
Kohlschütter A, Schulz A
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:682-8. PMID: 27491216
Siva K, Covello G, Denti MA
Nucleic Acid Ther 2014 Feb;24(1):69-86. doi: 10.1089/nat.2013.0461. PMID: 24506781Free PMC Article
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
Markand ON
J Clin Neurophysiol 1984 Oct;1(4):357-407. PMID: 6242404

Prognosis

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
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
Min KT, Benzer S
Curr Biol 1997 Nov 1;7(11):885-8. doi: 10.1016/s0960-9822(06)00378-2. PMID: 9382801
Auer IA, Schmidt ML, Lee VM, Curry B, Suzuki K, Shin RW, Pentchev PG, Carstea ED, Trojanowski JQ
Acta Neuropathol 1995;90(6):547-51. doi: 10.1007/BF00318566. PMID: 8615074
Sadeh M, Kuritzky A, Ben-David E, Goldhammer Y
Postgrad Med J 1992 Mar;68(797):192-5. doi: 10.1136/pgmj.68.797.192. PMID: 1589377Free PMC Article

Clinical prediction guides

Hatton C, Ghanem SS, Koss DJ, Abdi IY, Gibbons E, Guerreiro R, Bras J; International DLB Genetics Consortium, Walker L, Gelpi E, Heywood W, Outeiro TF, Attems J, McFarland R, Forsyth R, El-Agnaf OM, Erskine D
Brain 2022 May 24;145(4):1257-1263. doi: 10.1093/brain/awac002. PMID: 34999780Free PMC Article
Stern R
Front Biosci (Landmark Ed) 2017 Jan 1;22(4):580-595. doi: 10.2741/4504. PMID: 27814634
Nishioka K, Ross OA, Vilariño-Güell C, Cobb SA, Kachergus JM, Mann DM, Snowden J, Richardson AM, Neary D, Robinson CA, Rajput A, Papapetropoulos S, Mash DC, Pahwa R, Lyons KE, Wszolek ZK, Dickson DW, Farrer MJ
Parkinsonism Relat Disord 2011 Jan;17(1):55-7. doi: 10.1016/j.parkreldis.2010.09.009. PMID: 20971030Free PMC Article
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
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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