Genetics of the neuronal ceroid lipofuscinoses (Batten disease)

doi:10.1016/j.bbadis.2015.05.011

Review

. 2015 Oct;1852(10 Pt B):2237-41.

doi: 10.1016/j.bbadis.2015.05.011. Epub 2015 May 27.

Genetics of the neuronal ceroid lipofuscinoses (Batten disease)

Sara E Mole¹, Susan L Cotman²

Affiliations

¹ MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London, WC1E 6BT, UK; UCL Institute of Child Health and Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK. Electronic address: [email protected].
² Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA.

PMID: 26026925
PMCID: PMC4567481
DOI: 10.1016/j.bbadis.2015.05.011

Review

Genetics of the neuronal ceroid lipofuscinoses (Batten disease)

Sara E Mole et al. Biochim Biophys Acta. 2015 Oct.

. 2015 Oct;1852(10 Pt B):2237-41.

doi: 10.1016/j.bbadis.2015.05.011. Epub 2015 May 27.

Authors

Sara E Mole¹, Susan L Cotman²

Affiliations

¹ MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London, WC1E 6BT, UK; UCL Institute of Child Health and Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK. Electronic address: [email protected].
² Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA.

PMID: 26026925
PMCID: PMC4567481
DOI: 10.1016/j.bbadis.2015.05.011

Abstract

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that affect children and adults and are grouped together by similar clinical features and the accumulation of autofluorescent storage material. More than a dozen genes containing over 430 mutations underlying human NCLs have been identified. These genes encode lysosomal enzymes (CLN1, CLN2, CLN10, CLN13), a soluble lysosomal protein (CLN5), a protein in the secretory pathway (CLN11), two cytoplasmic proteins that also peripherally associate with membranes (CLN4, CLN14), and many transmembrane proteins with different subcellular locations (CLN3, CLN6, CLN7, CLN8, CLN12). For most NCLs, the function of the causative gene has not been fully defined. Most of the mutations in these genes are associated with a typical disease phenotype, but some result in variable disease onset, severity, and progression, including distinct clinical phenotypes. There remain disease subgroups with unknown molecular genetic backgrounds. This article is part of a Special Issue entitled: "Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease)."

Keywords: Batten; CLN; NCL; Neuronal ceroid lipofuscinosis; genetics, mutation.

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References

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[1] Noskova L, Stranecky V, Hartmannova H, Pristoupilova A, Baresova V, Ivanek R, Hulkova H, Jahnova H, van der Zee J, Staropoli JF, Sims KB, Tyynela J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Am J Hum Genet. 2011;89:241–252. - PMC - PubMed

[2] Noskova L, Stranecky V, Hartmannova H, Pristoupilova A, Baresova V, Ivanek R, Hulkova H, Jahnova H, van der Zee J, Staropoli JF, Sims KB, Tyynela J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Am J Hum Genet. 2011;89:241–252. - PMC - PubMed

[3] Vantaggiato C, Redaelli F, Falcone S, Perrotta C, Tonelli A, Bondioni S, Morbin M, Riva D, Saletti V, Bonaglia MC, Giorda R, Bresolin N, Clementi E, Bassi MT. A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. Hum Mutat. 2009;30:1104–1116. - PubMed

[4] Vantaggiato C, Redaelli F, Falcone S, Perrotta C, Tonelli A, Bondioni S, Morbin M, Riva D, Saletti V, Bonaglia MC, Giorda R, Bresolin N, Clementi E, Bassi MT. A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. Hum Mutat. 2009;30:1104–1116. - PubMed

[5] Ryan CL, Baranowski DC, Chitramuthu BP, Malik S, Li Z, Cao M, Minotti S, Durham HD, Kay DG, Shaw CA, Bennett HP, Bateman A. Progranulin is expressed within motor neurons and promotes neuronal cell survival. BMC Neurosci. 2009;10:130. - PMC - PubMed

[6] Ryan CL, Baranowski DC, Chitramuthu BP, Malik S, Li Z, Cao M, Minotti S, Durham HD, Kay DG, Shaw CA, Bennett HP, Bateman A. Progranulin is expressed within motor neurons and promotes neuronal cell survival. BMC Neurosci. 2009;10:130. - PMC - PubMed

[7] Neverman NJ, Best HL, Hofmann SL, Hughes SM. Experimental Therapies in the Neuronal Ceroid Lipofuscinoses. Biochim Biophys Acta. 2015 - PubMed

[8] Neverman NJ, Best HL, Hofmann SL, Hughes SM. Experimental Therapies in the Neuronal Ceroid Lipofuscinoses. Biochim Biophys Acta. 2015 - PubMed

[9] Cárcel-Trullols J, Kovács AD, Pearce DA. Cell biology of the NCL proteins: what they do and don’t do. Biochim Biophys Acta. 2015 - PubMed

[10] Cárcel-Trullols J, Kovács AD, Pearce DA. Cell biology of the NCL proteins: what they do and don’t do. Biochim Biophys Acta. 2015 - PubMed

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Genetics of the neuronal ceroid lipofuscinoses (Batten disease)

Affiliations

Genetics of the neuronal ceroid lipofuscinoses (Batten disease)

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Abstract

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