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Congenital neuronal ceroid lipofuscinosis

MedGen UID:
351189
•Concept ID:
C1864670
•
Disease or Syndrome
Synonym: Neuronal Ceroid Lipofuscinosis, Congenital
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)
 
Monarch Initiative: MONDO:0850001
OMIM®: 610127
Orphanet: ORPHA168486

Definition

Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital neuronal ceroid lipofuscinosis

Recent clinical studies

Etiology

Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Chartier S, Boutaud L, Le Guillou E, Alby C, Billon C, Millischer AE, Caillaud C, Galmiche L, Mechler C, Sonigo P, Boddaert N, Lyonnet S, Rondeau S, Bole-Feysot C, Masson C, Ville Y, Roth P, Desguerre I, Encha-Razavi F, Attie-Bitach T
Birth Defects Res 2021 Nov;113(18):1324-1332. Epub 2021 Sep 7 doi: 10.1002/bdr2.1950. PMID: 34491000
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.
Varvagiannis K, Hanquinet S, Billieux MH, De Luca R, Rimensberger P, Lidgren M, Guipponi M, Makrythanasis P, Blouin JL, Antonarakis SE, Steinfeld R, Kern I, Poretti A, Fluss J, Fokstuen S
Neuropediatrics 2018 Apr;49(2):150-153. Epub 2017 Dec 28 doi: 10.1055/s-0037-1613681. PMID: 29284168

Diagnosis

Congenital Neuronal Ceroid Lipofuscinosis: An Important Cause of Unexplained Seizures in Newborns.
Tripathi S, Jain S, Kumar M
Indian Pediatr 2022 Sep 15;59(9):726-727. PMID: 36101955
Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Chartier S, Boutaud L, Le Guillou E, Alby C, Billon C, Millischer AE, Caillaud C, Galmiche L, Mechler C, Sonigo P, Boddaert N, Lyonnet S, Rondeau S, Bole-Feysot C, Masson C, Ville Y, Roth P, Desguerre I, Encha-Razavi F, Attie-Bitach T
Birth Defects Res 2021 Nov;113(18):1324-1332. Epub 2021 Sep 7 doi: 10.1002/bdr2.1950. PMID: 34491000
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.
Varvagiannis K, Hanquinet S, Billieux MH, De Luca R, Rimensberger P, Lidgren M, Guipponi M, Makrythanasis P, Blouin JL, Antonarakis SE, Steinfeld R, Kern I, Poretti A, Fluss J, Fokstuen S
Neuropediatrics 2018 Apr;49(2):150-153. Epub 2017 Dec 28 doi: 10.1055/s-0037-1613681. PMID: 29284168
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.
Siintola E, Partanen S, Strömme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynelä J
Brain 2006 Jun;129(Pt 6):1438-45. Epub 2006 May 2 doi: 10.1093/brain/awl107. PMID: 16670177
Congenital ceroid-lipofuscinosis.
Barohn RJ, Dowd DC, Kagan-Hallet KS
Pediatr Neurol 1992 Jan-Feb;8(1):54-9. doi: 10.1016/0887-8994(92)90054-3. PMID: 1558577

Prognosis

CNS-expressed cathepsin D prevents lymphopenia in a murine model of congenital neuronal ceroid lipofuscinosis.
Shevtsova Z, Garrido M, Weishaupt J, Saftig P, Bähr M, Lühder F, Kügler S
Am J Pathol 2010 Jul;177(1):271-9. Epub 2010 May 20 doi: 10.2353/ajpath.2010.091267. PMID: 20489146Free PMC Article
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.
Siintola E, Partanen S, Strömme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynelä J
Brain 2006 Jun;129(Pt 6):1438-45. Epub 2006 May 2 doi: 10.1093/brain/awl107. PMID: 16670177

Clinical prediction guides

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.
Siintola E, Partanen S, Strömme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynelä J
Brain 2006 Jun;129(Pt 6):1438-45. Epub 2006 May 2 doi: 10.1093/brain/awl107. PMID: 16670177
Congenital ceroid-lipofuscinosis.
Barohn RJ, Dowd DC, Kagan-Hallet KS
Pediatr Neurol 1992 Jan-Feb;8(1):54-9. doi: 10.1016/0887-8994(92)90054-3. PMID: 1558577

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