neuronal 5 Ceroid lipofuscinosis

Also Known As:

Ceroid lipofuscinosis, neuronal 5; Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset; Finnish VLINCL; Neuronal ceroid lipofuscinosis, 5; Neuronal ceroid lipofuscinosis, Finnish variant, late infantile; VLINCL

Networked: 17 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Neurodegenerative Diseases: 42472
  - Nervous System Heredodegenerative Disorders: 63
    - Neuronal Ceroid-Lipofuscinoses: 1138
      - neuronal 5 Ceroid lipofuscinosis: 17
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Neuronal Ceroid-Lipofuscinoses: 1138
        neuronal 5 Ceroid lipofuscinosis: 17
  - Nervous System Heredodegenerative Disorders: 63
    - Neuronal Ceroid-Lipofuscinoses: 1138
      - neuronal 5 Ceroid lipofuscinosis: 17
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Neuronal Ceroid-Lipofuscinoses: 1138
        neuronal 5 Ceroid lipofuscinosis: 17
  - Lipid Metabolism Disorders: 898
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Neuronal Ceroid-Lipofuscinoses: 1138
        neuronal 5 Ceroid lipofuscinosis: 17

Related Diseases

1.	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
2.	Rett Syndrome (Rett's Disorder)
3.	Retinal Degeneration
4.	neuronal 8 Ceroid lipofuscinosis

Experts

1.	Ribeiro, Maria Gil: 3 articles (03/2010 - 05/2003)
2.	Mole, Sara E: 2 articles (05/2011 - 02/2002)
3.	MacDonald, Marcy E: 2 articles (02/2011 - 05/2003)
4.	Bessa, Carlos: 2 articles (03/2010 - 06/2003)
5.	Jalanko, Anu: 2 articles (03/2010 - 04/2002)
6.	Sá Miranda, Maria Clara: 2 articles (06/2003 - 05/2003)
7.	Cang, Chunlei: 1 article (12/2021)
8.	Hu, Wenqi: 1 article (12/2021)
9.	Huang, Jiamin: 1 article (12/2021)
10.	Li, Canjun: 1 article (12/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to neuronal 5 Ceroid lipofuscinosis:

1.	Proteins (Proteins, Gene)FDA Link 07/01/2009 - "The direct function of the endoplasmic reticulum-resident protein CLN6 and how dysfunction of this protein results in vLINCL are unknown. " 07/01/2006 - "The CLN6 vLINCL is caused by molecular defects in CLN6 gene coding for an ER resident transmembrane protein whose function is unknown. " 05/01/2003 - "We conclude the following: 1) the CLN6 gene may be a highly mutable gene; 2) exon 4 must code for a segment of the protein crucial for function; 3) vLINCL disease in Portugal is genetically heterogeneous; 4) the I154del accounts for 81.25% of affected CLN6 Portuguese alleles; and 5) three vLINCL Portuguese patients may have defects in a new NCL gene." 03/01/2010 - "This study furthers our understanding of the basic properties of the CLN5 protein, necessary for the characterization of the consequences of disease mutations and for the planning of future therapies for vLINCL." 01/01/2018 - "Ceroid lipofuscinosis neuronal 5 (CLN5) is a member of a family of proteins that are linked to neuronal ceroid lipofuscinosis (NCL). "
2.	Ciliary Neurotrophic Factor (CNTF)IBA 01/01/2015 - "In the present study we have analyzed the neuroprotective effects of a continuous neural stem (NS) cell-based intraocular delivery of ciliary neurotrophic factor (CNTF) on photoreceptor cells in the nclf mouse, an animal model of the neurodegenerative lysosomal storage disorder variant late infantile neuronal ceroid lipofuscinosis (vLINCL). "
3.	Neuroprotective AgentsIBA 01/01/2015 - "In the present study we have analyzed the neuroprotective effects of a continuous neural stem (NS) cell-based intraocular delivery of ciliary neurotrophic factor (CNTF) on photoreceptor cells in the nclf mouse, an animal model of the neurodegenerative lysosomal storage disorder variant late infantile neuronal ceroid lipofuscinosis (vLINCL). "
4.	Mitochondrial Proton-Translocating ATPases (Mitochondrial ATP Synthase)IBA 02/17/2011 - "Variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), caused by CLN6 mutation, and juvenile neuronal ceroid lipofuscinosis (JNCL), caused by CLN3 mutation, share clinical and pathological features, including lysosomal accumulation of mitochondrial ATP synthase subunit c, but the unrelated CLN6 and CLN3 genes may initiate disease via similar or distinct cellular processes. " 04/01/1997 - "The present analyses indicate that subunit c of the mitochondrial ATP synthase is the major protein in vLINCL brain storage cytosomes. "
5.	Amino Acids FDA Link 05/01/2011 - "Onset was in late infancy (3 years), and sequencing in the affected children revealed a novel homozygous c.613C>T change in exon 3 of ceroid-lipofuscinosis, neuronal 5, corresponding to a missense mutation of a conserved amino acid, p.Pro205Ser. " 02/01/2002 - "One vLINCL mutation, affecting a conserved amino acid residue within the predicted third hydrophilic loop of the protein, has been identified, suggesting that this domain may play an important functional role."
6.	Lysosomal Membrane ProteinsIBA 12/17/2021 - "One variant form of late-infantile NCL (vLINCL) is caused by mutations of a lysosomal membrane protein CLN7, the function of which has remained unknown. "
7.	RNA Helicases (RNA Helicase)IBA 09/15/1997 - "Our characterization of the critical region for the variant form of late infantile neuronal ceroid lipofuscinosis (vLINCL, locus definition CLN5) disease region on 13q22 resulted in the identification of the sequences encoding the BTF3 protein homologue gene (HGMW-approved symbol BTF3) and a novel pseudogene for RNA Helicase A (HGMW-approved symbol DDX9P). "
8.	Complementary DNA (cDNA)IBA 06/01/2003 - "In 42.3 % of patients affected by the vLINCL form, CLN3, CLN5 and CLN8 gene defects were excluded by direct sequencing of cDNA. "
9.	Peptides (Polypeptides)IBA 04/15/2002 - "This would imply that the pathogenesis of vLINCL would be associated with the defective lysosomal trafficking, preventing the normal biological function of the corresponding polypeptide." 04/15/2002 - "The most common human vLINCL mutation blocked the lysosomal targeting of expressed polypeptides. "
10.	ParaffinIBA 01/01/2001 - "Both the Finnish vLINCL and Northern epilepsy are pathologically characterized by intraneuronal cytoplasmic deposits of autofluorescent granules which are Luxol fast blue-, PAS-, and Sudan black B-positive in paraffin sections. "

Therapies and Procedures

1.	Therapeutics 03/01/2010 - "This study furthers our understanding of the basic properties of the CLN5 protein, necessary for the characterization of the consequences of disease mutations and for the planning of future therapies for vLINCL."