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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

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
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
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
Genetic susceptibility to ischemic stroke.
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
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
Hereditary cerebral small vessel diseases: a review.
Federico A, Di Donato I, Bianchi S, Di Palma C, Taglia I, Dotti MT
J Neurol Sci 2012 Nov 15;322(1-2):25-30. Epub 2012 Aug 4 doi: 10.1016/j.jns.2012.07.041. PMID: 22868088
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
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

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
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD).
Adams SJ, Kirk A, Auer RN
J Clin Neurosci 2018 Feb;48:42-49. Epub 2017 Nov 6 doi: 10.1016/j.jocn.2017.10.060. PMID: 29122458
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

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
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Huin V, Barbier M, Bottani A, Lobrinus JA, Clot F, Lamari F, Chat L, Rucheton B, Fluchère F, Auvin S, Myers P, Gelot A, Camuzat A, Caillaud C, Jornéa L, Forlani S, Saracino D, Duyckaerts C, Brice A, Durr A, Le Ber I
Brain 2020 Jan 1;143(1):303-319. doi: 10.1093/brain/awz377. PMID: 31855245
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
Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: review of data and observations.
Wisneiwski KE, Kida E, Patxot OF, Connell F
Am J Med Genet 1992 Feb 15;42(4):525-32. doi: 10.1002/ajmg.1320420420. PMID: 1319116

Recent systematic reviews

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD).
Adams SJ, Kirk A, Auer RN
J Clin Neurosci 2018 Feb;48:42-49. Epub 2017 Nov 6 doi: 10.1016/j.jocn.2017.10.060. PMID: 29122458
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA
Curr Med Res Opin 2017 May;33(5):877-890. Epub 2017 Mar 2 doi: 10.1080/03007995.2017.1294054. PMID: 28276873

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