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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
Xiong H, Higaki K, Wei CJ, Bao XH, Zhang YH, Fu N, Qin J, Adachi K, Kumura Y, Ninomiya H, Nanba E, Wu XR
Gene 2012 May 1;498(2):332-5. Epub 2012 Feb 4 doi: 10.1016/j.gene.2012.01.026. PMID: 22326530

Recent clinical studies

Etiology

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
Furderer ML, Hertz E, Lopez GJ, Sidransky E
Int J Mol Sci 2022 May 23;23(10) doi: 10.3390/ijms23105842. PMID: 35628652Free 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
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
Meschia JF, Worrall BB, Rich SS
Nat Rev Neurol 2011 May 31;7(7):369-78. doi: 10.1038/nrneurol.2011.80. PMID: 21629240Free PMC Article

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
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
Rosenberg RN, Iannaccone ST
Arch Neurol 1995 Apr;52(4):356-62. doi: 10.1001/archneur.1995.00540280038016. PMID: 7710370

Therapy

Cariati I, Masuelli L, Bei R, Tancredi V, Frank C, D'Arcangelo G
Int J Mol Sci 2021 Jun 20;22(12) doi: 10.3390/ijms22126600. PMID: 34202978Free PMC Article
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, Bartsch U, Storch S
CNS Drugs 2019 Apr;33(4):315-325. doi: 10.1007/s40263-019-00620-8. PMID: 30877620Free PMC Article
Thijs V, Grittner U, Dichgans M, Enzinger C, Fazekas F, Giese AK, Kessler C, Kolodny E, Kropp P, Martus P, Norrving B, Ringelstein EB, Rothwell PM, Schmidt R, Tanislav C, Tatlisumak T, von Sarnowski B, Rolfs A; Stroke in Fabry Investigators
Stroke 2015 Jul;46(7):1975-8. Epub 2015 Jun 2 doi: 10.1161/STROKEAHA.115.009341. PMID: 26038521
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Prognosis

Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S
Brain 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297. PMID: 30561534
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
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
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
Chen CS, Patterson MC, Wheatley CL, O'Brien JF, Pagano RE
Lancet 1999 Sep 11;354(9182):901-5. doi: 10.1016/S0140-6736(98)10034-X. PMID: 10489949

Clinical prediction guides

Winner LK, Beard H, Karageorgos L, Smith NJ, Hopwood JJ, Hemsley KM
Biochim Biophys Acta Mol Basis Dis 2023 Apr;1869(4):166658. Epub 2023 Jan 29 doi: 10.1016/j.bbadis.2023.166658. PMID: 36720445
Stern R
Front Biosci (Landmark Ed) 2017 Jan 1;22(4):580-595. doi: 10.2741/4504. PMID: 27814634
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
Chen CS, Patterson MC, Wheatley CL, O'Brien JF, Pagano RE
Lancet 1999 Sep 11;354(9182):901-5. doi: 10.1016/S0140-6736(98)10034-X. PMID: 10489949

Supplemental Content

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