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Ceroid lipofuscinosis, neuronal, 3, protracted

MedGen UID:
865496
Concept ID:
C4017059
Finding
Synonym: CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
 
OMIM®: 607042

Professional guidelines

PubMed

Augustine EF, Adams HR, de Los Reyes E, Drago K, Frazier M, Guelbert N, Laine M, Levin T, Mink JW, Nickel M, Peifer D, Schulz A, Simonati A, Topcu M, Turunen JA, Williams R, Wirrell EC, King S
Pediatr Neurol 2021 Jul;120:38-51. Epub 2021 Apr 9 doi: 10.1016/j.pediatrneurol.2021.04.002. PMID: 34000449
Mole SE, Williams RE, Goebel HH
Neurogenetics 2005 Sep;6(3):107-26. Epub 2005 Sep 28 doi: 10.1007/s10048-005-0218-3. PMID: 15965709

Recent clinical studies

Etiology

Atiskova Y, Wildner J, Wibbeler E, Nickel M, Spitzer MS, Schwering C, Schulz A, Dulz S
Graefes Arch Clin Exp Ophthalmol 2022 Nov;260(11):3693-3700. Epub 2022 Jun 2 doi: 10.1007/s00417-022-05662-1. PMID: 35652945Free PMC Article
Lourenço CM, Pessoa A, Mendes CC, Rivera-Nieto C, Vergara D, Troncoso M, Gardner E, Mallorens F, Tavera L, Lizcano LA, Atanacio N, Guelbert N, Specola N, Mancilla N, de Souza CFM, Mole SE
J Paediatr Child Health 2021 Apr;57(4):519-525. Epub 2020 Dec 30 doi: 10.1111/jpc.15250. PMID: 33377563Free PMC Article
Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM
J Inherit Metab Dis 2018 Mar;41(2):257-261. Epub 2018 Feb 1 doi: 10.1007/s10545-018-0143-x. PMID: 29392585Free PMC Article
Mole SE, Williams RE, Goebel HH
Neurogenetics 2005 Sep;6(3):107-26. Epub 2005 Sep 28 doi: 10.1007/s10048-005-0218-3. PMID: 15965709
Mole SE
Brain Pathol 2004 Jan;14(1):70-6. doi: 10.1111/j.1750-3639.2004.tb00500.x. PMID: 14997939Free PMC Article

Diagnosis

Cameron JM, Damiano JA, Grinton B, Carney PW, McKelvie P, Silbert P, Lawn N, Scheffer IE, Oliver KL, Hildebrand MS, Berkovic SF
Epilepsia 2023 Jul;64(7):1833-1841. Epub 2023 Apr 27 doi: 10.1111/epi.17616. PMID: 37039534Free PMC Article
Augustine EF, Adams HR, de Los Reyes E, Drago K, Frazier M, Guelbert N, Laine M, Levin T, Mink JW, Nickel M, Peifer D, Schulz A, Simonati A, Topcu M, Turunen JA, Williams R, Wirrell EC, King S
Pediatr Neurol 2021 Jul;120:38-51. Epub 2021 Apr 9 doi: 10.1016/j.pediatrneurol.2021.04.002. PMID: 34000449
Goebel HH
J Inherit Metab Dis 1993;16(2):233-6. doi: 10.1007/BF00710252. PMID: 8411968
Martin JJ
Dev Neurosci 1991;13(4-5):331-8. doi: 10.1159/000112182. PMID: 1817040
Goebel HH, Braak H
Clin Neuropathol 1989 May-Jun;8(3):109-19. PMID: 2663281

Prognosis

Atiskova Y, Wildner J, Wibbeler E, Nickel M, Spitzer MS, Schwering C, Schulz A, Dulz S
Graefes Arch Clin Exp Ophthalmol 2022 Nov;260(11):3693-3700. Epub 2022 Jun 2 doi: 10.1007/s00417-022-05662-1. PMID: 35652945Free PMC Article
Augustine EF, Adams HR, de Los Reyes E, Drago K, Frazier M, Guelbert N, Laine M, Levin T, Mink JW, Nickel M, Peifer D, Schulz A, Simonati A, Topcu M, Turunen JA, Williams R, Wirrell EC, King S
Pediatr Neurol 2021 Jul;120:38-51. Epub 2021 Apr 9 doi: 10.1016/j.pediatrneurol.2021.04.002. PMID: 34000449
Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM
J Inherit Metab Dis 2018 Mar;41(2):257-261. Epub 2018 Feb 1 doi: 10.1007/s10545-018-0143-x. PMID: 29392585Free PMC Article
Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, Omer S, Ahmed M, Bennett C, Chakrabarty A, Tyagi A, Liu Y, Pencea N, Zhao X, Scherer SW, Ackerley CA, Minassian BA
Brain 2012 Sep;135(Pt 9):2684-98. doi: 10.1093/brain/aws205. PMID: 22961547Free PMC Article
Mole SE, Williams RE, Goebel HH
Neurogenetics 2005 Sep;6(3):107-26. Epub 2005 Sep 28 doi: 10.1007/s10048-005-0218-3. PMID: 15965709

Clinical prediction guides

Atiskova Y, Wildner J, Wibbeler E, Nickel M, Spitzer MS, Schwering C, Schulz A, Dulz S
Graefes Arch Clin Exp Ophthalmol 2022 Nov;260(11):3693-3700. Epub 2022 Jun 2 doi: 10.1007/s00417-022-05662-1. PMID: 35652945Free PMC Article
Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM
J Inherit Metab Dis 2018 Mar;41(2):257-261. Epub 2018 Feb 1 doi: 10.1007/s10545-018-0143-x. PMID: 29392585Free PMC Article
Kohan R, Carabelos MN, Xin W, Sims K, Guelbert N, Cismondi IA, Pons P, Alonso GI, Troncoso M, Witting S, Pearce DA, Dodelson de Kremer R, Oller-Ramírez AM, Noher de Halac I
Gene 2013 Mar 1;516(1):114-21. Epub 2012 Dec 22 doi: 10.1016/j.gene.2012.12.058. PMID: 23266810Free PMC Article
Wisniewski KE, Kida E, Walus M, Wujek P, Kaczmarski W, Golabek AA
Eur J Paediatr Neurol 2001;5 Suppl A:73-9. doi: 10.1053/ejpn.2000.0439. PMID: 11589013
Ranta S, Savukoski M, Santavuori P, Haltia M
Adv Genet 2001;45:123-40. doi: 10.1016/s0065-2660(01)45007-3. PMID: 11332769

Recent systematic reviews

Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM
J Inherit Metab Dis 2018 Mar;41(2):257-261. Epub 2018 Feb 1 doi: 10.1007/s10545-018-0143-x. PMID: 29392585Free PMC Article

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