Ceroid Lipofuscinosis Neuronal 1

Common Name(s)

Ceroid Lipofuscinosis Neuronal 1

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure ({22:Mole et al., 2005}). {33:Zeman and Dyken (1969)} referred to these conditions as the 'neuronal ceroid lipofuscinoses.' {5:Goebel (1995)} provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children. {22:Mole et al. (2005)} provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis See also CLN2 ({204500}), caused by mutation in the CLN2 gene ({607998}) on chromosome 11p15; CLN3 ({204200}), caused by mutation in the CLN3 gene ({607042}) on 16p12; CLN4A ({204300}), caused by mutation in the CLN6 gene ({602780}) on 15q21; CLN4B ({162350}), caused by mutation in the DNAJC5 gene ({611203}) on 20q13; CLN5 ({256731}), caused by mutation in the CLN5 gene ({608102}) on 13q; CLN6 ({601780}), caused by mutation in the CLN6 gene ({602780}) on 15q21; CLN7 ({610951}), caused by mutation in the MFSD8 gene ({611124}) on 4q28; CLN8 ({600143}) and the Northern epilepsy variant of CLN8 ({610003}), caused by mutation in the CLN8 gene ({607837}) on 8pter; CLN10 ({610127}), caused by mutation in the CTSD gene ({116840}) on 11p15; CLN11 ({614706}), caused by mutation in the GRN gene ({138945}) on 17q; CLN12 ({606693}), caused by mutation in the ATP13A2 gene ({610513}) on 1p36; CLN13 ({615362}), caused by mutation in the CTSF gene ({603539}); and CLN14 ({611726}), caused by mutation in the KCTD7 gene ({611725}) on 7q11. CLN9 ({609055}) has not been molecularly characterized.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ceroid Lipofuscinosis Neuronal 1" for support, advocacy or research.

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Hayden's Batten Disease Foundation Inc

The mission of Hayden’s Batten Disease Foundation Inc is to help children with Batten Disease receive treatment, to provide funding for Batten Disease research and promote awareness of this incurable genetic disorder and the devastating affect it has on children.

Last Updated: 15 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ceroid Lipofuscinosis Neuronal 1" for support, advocacy or research.

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Hayden's Batten Disease Foundation Inc

The mission of Hayden’s Batten Disease Foundation Inc is to help children with Batten Disease receive treatment, to provide funding for Batten Disease research and promote awareness of this incurable genetic disorder and the devastating affect it has on children.

http://www.helphayden.com

Last Updated: 15 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Ceroid Lipofuscinosis Neuronal 1" returned 4 free, full-text research articles on human participants. First 3 results:

[Tripeptidyl peptidase 1 in patients with late infantile neuronal ceroid lipofuscinosis].
 

Author(s): L Miranda Contreras, W Delgado Luengo, N Zerpa, J Chacín Hernández, C J Chávez, S González Ferrer

Journal: An Pediatr (Barc). 2012 Mar;76(3):148-52.

 

Neuronal ceroid lipofuscinoses are a group of inherited autosomal recessive lysosomal diseases, most commonly found in infancy. These are neuropathologically characterised by accumulation of an autofluorescent lipopigment in neurons and other cells. This condition is clinically characterised ...

Last Updated: 9 Mar 2012

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Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis.
 

Author(s): Jui-Yun Lu, Jie Hu, Sandra L Hofmann

Journal: Mol. Genet. Metab.. 2010 Apr;99(4):374-8.

 

Infantile neuronal ceroid lipofuscinosis (INCL, also known as Haltia-Santavuori disease) is a lysosomal storage disorder of infants and children characterized by blindness, seizures and a progressive neurodegenerative course. Recent clinical trials have involved neural stem cells ...

Last Updated: 15 Mar 2010

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The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis.
 

Author(s): J J Bellizzi, J Widom, C Kemp, J Y Lu, A K Das, S L Hofmann, J Clardy

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2000 Apr;97(9):4573-8.

 

Mutations in palmitoyl-protein thioesterase 1 (PPT1), a lysosomal enzyme that removes fatty acyl groups from cysteine residues in modified proteins, cause the fatal inherited neurodegenerative disorder infantile neuronal ceroid lipofuscinosis. The accumulation of undigested substrates ...

Last Updated: 24 May 2000

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ceroid Lipofuscinosis Neuronal 1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Safety and Efficacy Study of BMN190 for the Treatment of Patients With CLN2 Disease
 

Status: Recruiting

Condition Summary: Jansky-Bielschowsky Disease; Batten Disease; Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2; CLN2 Disease

 

Last Updated: 21 Mar 2014

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