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Juvenile neuronal ceroid lipofuscinosis

MedGen UID:
978346
•Concept ID:
CN293564
•
Disease or Syndrome
Synonyms: Batten disease; Vogt Spielmeyer disease
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related genes: PPT1, CLN8, CLN3, TPP1
 
Monarch Initiative: MONDO:0019262
Orphanet: ORPHA79264

Definition

Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities. [from ORDO]

Professional guidelines

PubMed

Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).
Adams HR, Beck CA, Levy E, Jordan R, Kwon JM, Marshall FJ, Vierhile A, Augustine EF, de Blieck EA, Pearce DA, Mink JW
Dev Med Child Neurol 2010 Jul;52(7):637-43. Epub 2010 Feb 19 doi: 10.1111/j.1469-8749.2010.03628.x. PMID: 20187884Free PMC Article
A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis.
Aberg LE, Rinne JO, Rajantie I, Santavuori P
Neurology 2001 May 8;56(9):1236-9. doi: 10.1212/wnl.56.9.1236. PMID: 11342698
Early juvenile neuronal ceroid-lipofuscinosis or variant Jansky-Bielschowsky disease: diagnostic criteria and nomenclature.
Santavuori P, Rapola J, Raininko R, Autti T, Lappi M, Nuutila A, Launes J, Sainio K
J Inherit Metab Dis 1993;16(2):230-2. doi: 10.1007/BF00710251. PMID: 8411967

Recent clinical studies

Etiology

Paroxysmal sympathetic hyperactivity in Juvenile neuronal ceroid lipofuscinosis (Batten disease).
Ostergaard JR
Auton Neurosci 2018 Nov;214:15-18. Epub 2018 Jul 29 doi: 10.1016/j.autneu.2018.07.003. PMID: 30072301
Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease).
Adams HR, Mink JW; University of Rochester Batten Center Study Group
J Child Neurol 2013 Sep;28(9):1128-36. doi: 10.1177/0883073813494813. PMID: 24014508Free PMC Article
Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).
Hawkins-Salsbury JA, Cooper JD, Sands MS
Biochim Biophys Acta 2013 Nov;1832(11):1906-9. Epub 2013 Jun 6 doi: 10.1016/j.bbadis.2013.05.026. PMID: 23747979Free PMC Article
Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update.
Rakheja D, Narayan SB, Bennett MJ
Curr Mol Med 2007 Sep;7(6):603-8. doi: 10.2174/156652407781695729. PMID: 17896996
The neuronal ceroid-lipofuscinoses.
Goebel HH
J Child Neurol 1995 Nov;10(6):424-37. doi: 10.1177/088307389501000602. PMID: 8576551

Diagnosis

Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).
Hawkins-Salsbury JA, Cooper JD, Sands MS
Biochim Biophys Acta 2013 Nov;1832(11):1906-9. Epub 2013 Jun 6 doi: 10.1016/j.bbadis.2013.05.026. PMID: 23747979Free PMC Article
Funding resources for rare disease research.
Stehr F, Forkel M
Biochim Biophys Acta 2013 Nov;1832(11):1910-2. Epub 2013 Apr 19 doi: 10.1016/j.bbadis.2013.04.016. PMID: 23608548
Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye.
Bozorg S, Ramirez-Montealegre D, Chung M, Pearce DA
Surv Ophthalmol 2009 Jul-Aug;54(4):463-71. doi: 10.1016/j.survophthal.2009.04.007. PMID: 19539834Free PMC Article
Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease.
Rothberg PG, Ramirez-Montealegre D, Frazier SD, Pearce DA
J Mol Diagn 2004 Aug;6(3):260-3. doi: 10.1016/S1525-1578(10)60519-3. PMID: 15269304Free PMC Article
The neuronal ceroid-lipofuscinoses.
Goebel HH
J Child Neurol 1995 Nov;10(6):424-37. doi: 10.1177/088307389501000602. PMID: 8576551

Therapy

Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3).
Bosch ME, Aldrich A, Fallet R, Odvody J, Burkovetskaya M, Schuberth K, Fitzgerald JA, Foust KD, Kielian T
J Neurosci 2016 Sep 14;36(37):9669-82. doi: 10.1523/JNEUROSCI.1635-16.2016. PMID: 27629717Free PMC Article
Juvenile NCL (CLN3 Disease): Emerging Disease-Modifying Therapeutic Strategies.
Augustine EF, Mink JW
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:655-62. PMID: 27491213
Hippocampal volumes in juvenile neuronal ceroid lipofuscinosis: a longitudinal magnetic resonance imaging study.
Tokola AM, Salli EK, Åberg LE, Autti TH
Pediatr Neurol 2014 Feb;50(2):158-63. Epub 2013 Oct 30 doi: 10.1016/j.pediatrneurol.2013.10.013. PMID: 24411222
New antidepressive and antipsychotic drugs in juvenile neuronal ceroid lipofuscinoses--a pilot study.
Bäckman ML, Aberg LE, Aronen ET, Santavuori PR
Eur J Paediatr Neurol 2001;5 Suppl A:163-6. doi: 10.1053/ejpn.2000.0455. PMID: 11588990
Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis.
Aberg LE, Bäckman M, Kirveskari E, Santavuori P
Epilepsia 2000 Oct;41(10):1296-302. doi: 10.1111/j.1528-1157.2000.tb04608.x. PMID: 11051125

Prognosis

Juvenile neuronal ceroid lipofuscinosis and education.
von Tetzchner S, Fosse P, Elmerskog B
Biochim Biophys Acta 2013 Nov;1832(11):1894-905. Epub 2013 Mar 5 doi: 10.1016/j.bbadis.2013.02.017. PMID: 23470553
Is the ketogenic diet effective in specific epilepsy syndromes?
Nangia S, Caraballo RH, Kang HC, Nordli DR, Scheffer IE
Epilepsy Res 2012 Jul;100(3):252-7. Epub 2012 Mar 15 doi: 10.1016/j.eplepsyres.2012.01.015. PMID: 22424762
The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data.
Nugent T, Mole SE, Jones DT
FEBS Lett 2008 Apr 2;582(7):1019-24. Epub 2008 Feb 29 doi: 10.1016/j.febslet.2008.02.049. PMID: 18314010
Membrane topology of CLN3, the protein underlying Batten disease.
Mao Q, Foster BJ, Xia H, Davidson BL
FEBS Lett 2003 Apr 24;541(1-3):40-6. doi: 10.1016/s0014-5793(03)00284-9. PMID: 12706816
Analysis of CLN3-protein interactions using the yeast two-hybrid system.
Leung KY, Greene ND, Munroe PB, Mole SE
Eur J Paediatr Neurol 2001;5 Suppl A:89-93. doi: 10.1053/ejpn.2000.0441. PMID: 11589015

Clinical prediction guides

Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system.
Klein M, Kaleem A, Oetjen S, Wünkhaus D, Binkle L, Schilling S, Gjorgjieva M, Scholz R, Gruber-Schoffnegger D, Storch S, Kins S, Drewes G, Hoffmeister-Ullerich S, Kuhl D, Hermey G
Autophagy 2022 Sep;18(9):2068-2085. Epub 2021 Dec 29 doi: 10.1080/15548627.2021.2016232. PMID: 34964690Free PMC Article
The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data.
Nugent T, Mole SE, Jones DT
FEBS Lett 2008 Apr 2;582(7):1019-24. Epub 2008 Feb 29 doi: 10.1016/j.febslet.2008.02.049. PMID: 18314010
A novel role of the Batten disease gene CLN3: association with BMP synthesis.
Hobert JA, Dawson G
Biochem Biophys Res Commun 2007 Jun 22;358(1):111-6. Epub 2007 Apr 19 doi: 10.1016/j.bbrc.2007.04.064. PMID: 17482562Free PMC Article
Analysis of CLN3-protein interactions using the yeast two-hybrid system.
Leung KY, Greene ND, Munroe PB, Mole SE
Eur J Paediatr Neurol 2001;5 Suppl A:89-93. doi: 10.1053/ejpn.2000.0441. PMID: 11589015
The Batten disease gene product (CLN3p) is a Golgi integral membrane protein.
Kremmidiotis G, Lensink IL, Bilton RL, Woollatt E, Chataway TK, Sutherland GR, Callen DF
Hum Mol Genet 1999 Mar;8(3):523-31. doi: 10.1093/hmg/8.3.523. PMID: 9949212

Recent systematic reviews

Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation.
Chen ZR, Liu DT, Meng H, Liu L, Bian WJ, Liu XR, Zhu WW, He Y, Wang J, Tang B, Su T, Yi YH
Seizure 2019 Jul;69:180-185. Epub 2018 Sep 2 doi: 10.1016/j.seizure.2018.08.027. PMID: 31059981

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