Ceroid lipofuscinosis, neuronal, 3, protracted

MedGen UID:: 865496
•Concept ID:: C4017059
•: Finding

Synonym:	CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED

OMIM®:	607042

Professional guidelines

PubMed

Management of CLN1 Disease: International Clinical Consensus.

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

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

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

See all (2)

Recent clinical studies

Prognosis

Visual perception and macular integrity in non-classical CLN2 disease.

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: 35652945 Free PMC Article

Management of CLN1 Disease: International Clinical Consensus.

Timing of cognitive decline in CLN3 disease.

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: 29392585 Free PMC Article

Early-onset Lafora body disease.

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: 22961547 Free PMC Article

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

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

See all (25)

Clinical prediction guides

Visual perception and macular integrity in non-classical CLN2 disease.

Timing of cognitive decline in CLN3 disease.

Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.

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: 23266810 Free PMC Article

Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders.

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

Studies of homogenous populations: CLN5 and CLN8.

Ranta S, Savukoski M, Santavuori P, Haltia M
Adv Genet 2001;45:123-40. doi: 10.1016/s0065-2660(01)45007-3. PMID: 11332769

See all (7)