Future perspectives: Moving towards NCL treatments

doi:10.1016/j.bbadis.2015.04.001

Review

. 2015 Oct;1852(10 Pt B):2336-8.

doi: 10.1016/j.bbadis.2015.04.001. Epub 2015 Apr 7.

Future perspectives: Moving towards NCL treatments

Susan L Cotman¹, Sara E Mole², Romina Kohan³

Affiliations

¹ Center for Human Genetic Research and Department of Neurology, Harvard Medical School, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA. Electronic address: [email protected].
² MRC Laboratory for Cell Biology, Department of Genetics, Evolution & Environment, UCL Institute of Child Health, University College London, Gower St, London, WC1E 6BT, UK.
³ Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba. Ferroviarios 1250, (5014) Córdoba, Argentina.

PMID: 25857620
PMCID: PMC4567439
DOI: 10.1016/j.bbadis.2015.04.001

Review

Future perspectives: Moving towards NCL treatments

Susan L Cotman et al. Biochim Biophys Acta. 2015 Oct.

. 2015 Oct;1852(10 Pt B):2336-8.

doi: 10.1016/j.bbadis.2015.04.001. Epub 2015 Apr 7.

Authors

Susan L Cotman¹, Sara E Mole², Romina Kohan³

Affiliations

¹ Center for Human Genetic Research and Department of Neurology, Harvard Medical School, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA. Electronic address: [email protected].
² MRC Laboratory for Cell Biology, Department of Genetics, Evolution & Environment, UCL Institute of Child Health, University College London, Gower St, London, WC1E 6BT, UK.
³ Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba. Ferroviarios 1250, (5014) Córdoba, Argentina.

PMID: 25857620
PMCID: PMC4567439
DOI: 10.1016/j.bbadis.2015.04.001

Abstract

Clinicians, basic researchers, representatives from pharma and families from around the world met in Cordoba, Argentina in October, 2014 to discuss recent research progress at the 14th International Congress on Neuronal Ceroid Lipofuscinoses (NCLs; Batten disease), a group of clinically overlapping fatal, inherited lysosomal disorders with primarily neurodegenerative symptoms. This brief review article will provide perspectives on the anticipated future directions of NCL basic and clinical research as we move towards improved diagnosis, care and treatment of NCL patients. This article is part of a Special Issue entitled: Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease).

Keywords: Batten disease; Neuronal Ceroid Lipofuscinosis (NCL).

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References

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[1] International Batten Disease Consortium. Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. Cell. 1995;82(6):949–57. - PubMed

[2] International Batten Disease Consortium. Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. Cell. 1995;82(6):949–57. - PubMed

[3] Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature. 1995;376(6541):584–7. - PubMed

[4] Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature. 1995;376(6541):584–7. - PubMed

[5] Zhang AH, Sun H, Wang XJ. Recent advances in metabolomics in neurological disease, and future perspectives. Anal Bioanal Chem. 2013 Oct;405(25):8143–50. - PubMed

[6] Zhang AH, Sun H, Wang XJ. Recent advances in metabolomics in neurological disease, and future perspectives. Anal Bioanal Chem. 2013 Oct;405(25):8143–50. - PubMed

[7] Jove M, Portero-Otin M, Naudi A, Ferrer I, Pamplona R. Metabolomics of human brain aging and age-related neurodegenerative diseases. J Neuropathol Exp Neurol. 2014 Jul;73(7):640–57. - PubMed

[8] Jove M, Portero-Otin M, Naudi A, Ferrer I, Pamplona R. Metabolomics of human brain aging and age-related neurodegenerative diseases. J Neuropathol Exp Neurol. 2014 Jul;73(7):640–57. - PubMed

[9] Kang J, Zhu L, Lu J, Zhang X. Application of metabolomics in autoimmune diseases: Insight into biomarkers and pathology. J Neuroimmunol. 2015 Feb 15;279C:25–32. - PubMed

[10] Kang J, Zhu L, Lu J, Zhang X. Application of metabolomics in autoimmune diseases: Insight into biomarkers and pathology. J Neuroimmunol. 2015 Feb 15;279C:25–32. - PubMed

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Future perspectives: Moving towards NCL treatments

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Future perspectives: Moving towards NCL treatments

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