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Published in: Journal of Neurology 5/2016

01-05-2016 | Letter to the Editors

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD

Authors: Stefano Doccini, Stefano Sartori, Stefan Maeser, Francesco Pezzini, Sara Rossato, Francesca Moro, Irene Toldo, Michael Przybylski, Filippo M. Santorelli, Alessandro Simonati

Published in: Journal of Neurology | Issue 5/2016

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Dear Sirs, …
Appendix
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Literature
1.
go back to reference Mole SE, Williams RE, Goebel HH (eds) (2011) The neuronal ceroid lipofuscinoses (Batten disease), 2nd edn. Oxford University Press, Oxford Mole SE, Williams RE, Goebel HH (eds) (2011) The neuronal ceroid lipofuscinoses (Batten disease), 2nd edn. Oxford University Press, Oxford
2.
go back to reference Santorelli FM, Garavaglia B, Cardona F, Nardocci N, Dalla Bernardina B, Sartori S, Suppiej A, Bertini E, Claps D, Battini R, Biancheri R, Filocamo M, Pezzini F, Simonati A (2013) Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. Orphanet J Rare Dis 8:19CrossRefPubMedPubMedCentral Santorelli FM, Garavaglia B, Cardona F, Nardocci N, Dalla Bernardina B, Sartori S, Suppiej A, Bertini E, Claps D, Battini R, Biancheri R, Filocamo M, Pezzini F, Simonati A (2013) Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. Orphanet J Rare Dis 8:19CrossRefPubMedPubMedCentral
3.
go back to reference Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L (1995) Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376:584–587CrossRefPubMed Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L (1995) Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376:584–587CrossRefPubMed
4.
go back to reference Siintola E, Partanen S, Stromme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki A-E, Tyynela J (2006) Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain 129:1438–1445CrossRefPubMed Siintola E, Partanen S, Stromme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki A-E, Tyynela J (2006) Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain 129:1438–1445CrossRefPubMed
5.
go back to reference Fritchie K, Siintola E, Armao D, Lehesjoki A-E, Marino T, Powell C, Tennison M, Booker JM, Koch S, Partanen S, Suzuki K, Tyynela J, Thorne LB (2009) Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10). Acta Neuropathol 117:201–208CrossRefPubMed Fritchie K, Siintola E, Armao D, Lehesjoki A-E, Marino T, Powell C, Tennison M, Booker JM, Koch S, Partanen S, Suzuki K, Tyynela J, Thorne LB (2009) Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10). Acta Neuropathol 117:201–208CrossRefPubMed
6.
go back to reference Koike M, Nakanishi H, Saftig P, Ezki J, Isahara K, Ohsawa Y, Schulz-Schaeffer W, Watanabe T, Waguri S, Kametaka S, Shibata M, Yamamoto K, Kominami E, Peters C, von Figura K, Uchiyama Y (2000) Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons. J Neurosci 20:6898–6906PubMed Koike M, Nakanishi H, Saftig P, Ezki J, Isahara K, Ohsawa Y, Schulz-Schaeffer W, Watanabe T, Waguri S, Kametaka S, Shibata M, Yamamoto K, Kominami E, Peters C, von Figura K, Uchiyama Y (2000) Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons. J Neurosci 20:6898–6906PubMed
7.
go back to reference Tyynela J, Sohar I, Sleat DE, Gin RM, Donnelly RJ, Baumann M, Haltia M, Lobel P (2000) A mutation in the ovine Cathepsin D gene causes a congenital lysosomal storage with profound neurodegeneration. EMBO J 19:2786–2792CrossRefPubMedPubMedCentral Tyynela J, Sohar I, Sleat DE, Gin RM, Donnelly RJ, Baumann M, Haltia M, Lobel P (2000) A mutation in the ovine Cathepsin D gene causes a congenital lysosomal storage with profound neurodegeneration. EMBO J 19:2786–2792CrossRefPubMedPubMedCentral
8.
go back to reference Steinfeld R, Reinhardt K, Schreiber K, Hillebrand M, Kraetzner R, Bruck W, Saftig P, Gartner J (2006) Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet 78:988–998CrossRefPubMedPubMedCentral Steinfeld R, Reinhardt K, Schreiber K, Hillebrand M, Kraetzner R, Bruck W, Saftig P, Gartner J (2006) Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet 78:988–998CrossRefPubMedPubMedCentral
9.
go back to reference Hersheson J, Burke D, Clayton R, Anderson G, Jacques TS, Mills P, Wood NW, Gissen P, Clayton P, Fearnley J, Mole SE, Houlden H (2014) Cathepsin D deficiency causes juvenile onset ataxia and distinctive muscle pathology. Neurology 83:1873–1875CrossRefPubMedPubMedCentral Hersheson J, Burke D, Clayton R, Anderson G, Jacques TS, Mills P, Wood NW, Gissen P, Clayton P, Fearnley J, Mole SE, Houlden H (2014) Cathepsin D deficiency causes juvenile onset ataxia and distinctive muscle pathology. Neurology 83:1873–1875CrossRefPubMedPubMedCentral
10.
go back to reference Williams RE, Mole SE (2012) New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology 79:183–191CrossRefPubMed Williams RE, Mole SE (2012) New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology 79:183–191CrossRefPubMed
11.
go back to reference Anderson G, Goebel H-H, Simonati A (2013) Human Pathology of NCL. Biochem Biophys Acta 1832:1807–1826PubMed Anderson G, Goebel H-H, Simonati A (2013) Human Pathology of NCL. Biochem Biophys Acta 1832:1807–1826PubMed
12.
go back to reference Chandra G, Baqh M, Penq M, Saha A, Sarkar C, Moralle M, Zhanq Z, Mukherjee A (2015) CLN1 gene disruption in mice reveals a common pathogenetic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders. Hum Mol Genet 24:5416–5432CrossRefPubMed Chandra G, Baqh M, Penq M, Saha A, Sarkar C, Moralle M, Zhanq Z, Mukherjee A (2015) CLN1 gene disruption in mice reveals a common pathogenetic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders. Hum Mol Genet 24:5416–5432CrossRefPubMed
13.
go back to reference Fukumura S, Saito Y, Saito T, Komaki H, Nakagawa E, Sugai K, Sasaki M, Oka A, Takamisawa I (2011) Progressive conduction defects and cardiac death in late infantile ceroid lipofuscinosis. Dev Med Child Neurol 54:663–666CrossRefPubMed Fukumura S, Saito Y, Saito T, Komaki H, Nakagawa E, Sugai K, Sasaki M, Oka A, Takamisawa I (2011) Progressive conduction defects and cardiac death in late infantile ceroid lipofuscinosis. Dev Med Child Neurol 54:663–666CrossRefPubMed
14.
go back to reference Ostergaard JR, Rasmussen TB, Molgaard H (2011) Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease). Neurology 76:1245–1251CrossRefPubMed Ostergaard JR, Rasmussen TB, Molgaard H (2011) Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease). Neurology 76:1245–1251CrossRefPubMed
15.
go back to reference Neverman NJ, Best HL, Hofmann SL, Hughes SM (2015) Experimental therapies in the neuronal ceroid lipofuscinoses. Biochem Biophys Acta 1852:2292–2300PubMed Neverman NJ, Best HL, Hofmann SL, Hughes SM (2015) Experimental therapies in the neuronal ceroid lipofuscinoses. Biochem Biophys Acta 1852:2292–2300PubMed
Metadata
Title
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD
Authors
Stefano Doccini
Stefano Sartori
Stefan Maeser
Francesco Pezzini
Sara Rossato
Francesca Moro
Irene Toldo
Michael Przybylski
Filippo M. Santorelli
Alessandro Simonati
Publication date
01-05-2016
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 5/2016
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-016-8111-6

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