New mutations in the neuronal ceroid lipofuscinosis genes

S. E. Mole; N. A. Zhong; A. Sarpong; W. P. Logan; S. Hofmann; W. Yi; P. F. Franken; O. P. Van Diggelen; M. H. Breuning; D. Moroziewicz; W. Ju; T. Salonen; V. Holmberg; I. Järvelä; P. E M Taschner

doi:10.1053/ejpn.2000.0427

New mutations in the neuronal ceroid lipofuscinosis genes

S. E. Mole, N. A. Zhong, A. Sarpong, W. P. Logan, S. Hofmann, W. Yi, P. F. Franken, O. P. Van Diggelen, M. H. Breuning, D. Moroziewicz, W. Ju, T. Salonen, V. Holmberg, I. Järvelä, P. E M Taschner

Research output: Contribution to journal › Review article › peer-review

24 Scopus citations

Abstract

Thirty-eight mutations and seven polymorphisms have recently been reported in the genes underlying the neuronal ceroid lipofuscinoses (NCLs) including 11 new mutations described here. A total of 114 mutations and 28 polymorphisms have now been described in the five human genes identified which cause NCL. Thirty-eight mutations are recorded for CLN1/PPT; 40 for CLN2/TTP-1, 31 for CLN3, four for CLN5, one for CLN8. Two mutations have been described in animal genes (cln8/mnd, CTSD). All mutations in NCL genes are contained in the NCL Mutation Database (http://www.ucl.ac.uk/NCL).

Original language	English (US)
Pages (from-to)	7-10
Number of pages	4
Journal	European Journal of Paediatric Neurology
Volume	5
Issue number	SUPPL. A
DOIs	https://doi.org/10.1053/ejpn.2000.0427
State	Published - 2001

Keywords

Batten disease
CLN1
CLN2
CLN3
CLN5
CLN8
NCL
Neuronal ceroid lipofuscinosis
PPT1
TPP-1

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Clinical Neurology

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10.1053/ejpn.2000.0427

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Mole, S. E., Zhong, N. A., Sarpong, A., Logan, W. P., Hofmann, S., Yi, W., Franken, P. F., Van Diggelen, O. P., Breuning, M. H., Moroziewicz, D., Ju, W., Salonen, T., Holmberg, V., Järvelä, I., & Taschner, P. E. M. (2001). New mutations in the neuronal ceroid lipofuscinosis genes. European Journal of Paediatric Neurology, 5(SUPPL. A), 7-10. https://doi.org/10.1053/ejpn.2000.0427

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title = "New mutations in the neuronal ceroid lipofuscinosis genes",

abstract = "Thirty-eight mutations and seven polymorphisms have recently been reported in the genes underlying the neuronal ceroid lipofuscinoses (NCLs) including 11 new mutations described here. A total of 114 mutations and 28 polymorphisms have now been described in the five human genes identified which cause NCL. Thirty-eight mutations are recorded for CLN1/PPT; 40 for CLN2/TTP-1, 31 for CLN3, four for CLN5, one for CLN8. Two mutations have been described in animal genes (cln8/mnd, CTSD). All mutations in NCL genes are contained in the NCL Mutation Database (http://www.ucl.ac.uk/NCL).",

keywords = "Batten disease, CLN1, CLN2, CLN3, CLN5, CLN8, NCL, Neuronal ceroid lipofuscinosis, PPT1, TPP-1",

author = "Mole, {S. E.} and Zhong, {N. A.} and A. Sarpong and Logan, {W. P.} and S. Hofmann and W. Yi and Franken, {P. F.} and {Van Diggelen}, {O. P.} and Breuning, {M. H.} and D. Moroziewicz and W. Ju and T. Salonen and V. Holmberg and I. J{\"a}rvel{\"a} and Taschner, {P. E M}",

note = "Funding Information: This work was supported by the Medical Research Council, UK; the National Institutes of Health, USA (NS 36867 to SH); the Batten Disease Support and Research Association, USA.",

year = "2001",

doi = "10.1053/ejpn.2000.0427",

language = "English (US)",

volume = "5",

pages = "7--10",

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issn = "1090-3798",

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TY - JOUR

T1 - New mutations in the neuronal ceroid lipofuscinosis genes

AU - Mole, S. E.

AU - Zhong, N. A.

AU - Sarpong, A.

AU - Logan, W. P.

AU - Hofmann, S.

AU - Yi, W.

AU - Franken, P. F.

AU - Van Diggelen, O. P.

AU - Breuning, M. H.

AU - Moroziewicz, D.

AU - Ju, W.

AU - Salonen, T.

AU - Holmberg, V.

AU - Järvelä, I.

AU - Taschner, P. E M

N1 - Funding Information: This work was supported by the Medical Research Council, UK; the National Institutes of Health, USA (NS 36867 to SH); the Batten Disease Support and Research Association, USA.

PY - 2001

Y1 - 2001

N2 - Thirty-eight mutations and seven polymorphisms have recently been reported in the genes underlying the neuronal ceroid lipofuscinoses (NCLs) including 11 new mutations described here. A total of 114 mutations and 28 polymorphisms have now been described in the five human genes identified which cause NCL. Thirty-eight mutations are recorded for CLN1/PPT; 40 for CLN2/TTP-1, 31 for CLN3, four for CLN5, one for CLN8. Two mutations have been described in animal genes (cln8/mnd, CTSD). All mutations in NCL genes are contained in the NCL Mutation Database (http://www.ucl.ac.uk/NCL).

AB - Thirty-eight mutations and seven polymorphisms have recently been reported in the genes underlying the neuronal ceroid lipofuscinoses (NCLs) including 11 new mutations described here. A total of 114 mutations and 28 polymorphisms have now been described in the five human genes identified which cause NCL. Thirty-eight mutations are recorded for CLN1/PPT; 40 for CLN2/TTP-1, 31 for CLN3, four for CLN5, one for CLN8. Two mutations have been described in animal genes (cln8/mnd, CTSD). All mutations in NCL genes are contained in the NCL Mutation Database (http://www.ucl.ac.uk/NCL).

KW - Batten disease

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KW - CLN2

KW - CLN3

KW - CLN5

KW - CLN8

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KW - Neuronal ceroid lipofuscinosis

KW - PPT1

KW - TPP-1

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JF - European Journal of Paediatric Neurology

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ER -

New mutations in the neuronal ceroid lipofuscinosis genes

Abstract

Keywords

ASJC Scopus subject areas

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