The DOI matches its Crossref record; 145 of the 145 references it cites were found in a registry or an index.
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses
Open accessAbstract
The neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous neurodegenerative disorders. Most are autosomal recessively inherited. Clinical features include a variable age of onset, motor and mental decline, epilepsy, visual loss, and premature death. Mutations in eight genes (PPT1/CLN1, TPP1/CLN2, CLN3, CLN5, CLN6, MFSD8/CLN7, CLN8) have been identified and several more are predicted to exist, including two provisionally named CLN4 and CLN9. Despite excessive in vitro and in vivo studies, the precise functions of the NCL proteins and the disease mechanisms remain elusive. To date 365 NCL-causing mutations are known, with 91 novel disease-causing mutations reported. These are reviewed with an emphasis on their complex correlation to phenotypes. Different mutations within the NCL spectrum can cause variable disease severity. The NCLs exemplify both phenotypic convergence or mimicry and phenotypic divergence. For example, mutations in CLN5, CLN6, MFSD8, or CLN8 can underlie the clinically similar late infantile variant NCL disease. Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with mental retardation), and the more severe CLN8 disease, late infantile variant. The increase in the genetic understanding of the NCLs has led to improved diagnostic approaches, and the recent proposal of a new nomenclature.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
Dunnen, J. T. D., & Antonarakis, S. E. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200001)15:1<7::aid-humu4>3.0.co;2-n · Cited by 1,756
[13] Evolutionary families of metallopeptidases
Rawlings, N. D., & Barrett, A. J. (1995) · Methods in Enzymology · doi:10.1016/0076-6879(95)48015-3 · Cited by 806
Vesa, J., Hellsten, E., Verkruyse, L. A., Camp, L. A., Rapola, J., Santavuori, P., Hofmann, S. L., & Peltonen, L. (1995) · Nature · doi:10.1038/376584a0 · Cited by 737
Isolation of a novel gene underlying batten disease, CLN3
Lerner, T. J., Boustany, R.-M. N., Anderson, J. W., D'Arigo, K. L., Schlumpf, K., Buckler, A. J., Gusella, J. F., & Haines, J. L. (1995) · Cell · doi:10.1016/0092-8674(95)90274-0 · Cited by 601
Sleat, D. E., Donnelly, R. J., Lackland, H., Liu, C.-G., Sohar, I., Pullarkat, R. K., & Lobel, P. (1997) · Science · doi:10.1126/science.277.5333.1802 · Cited by 581
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
Siintola, E. (2006) · Brain · doi:10.1093/brain/awl107 · Cited by 389
Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras.
Camp, L. A., & Hofmann, S. L. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)41567-0 · Cited by 361
Mitochondrial ATP synthase subunit c storage in the ceroid‐lipofuscinoses (Batten disease)
Palmer, D. N., Fearnley, I. M., Walker, J. E., Hall, N. A., Lake, B. D., Wolfe, L. S., Haltia, M., Martinus, R. D., & Jolly, R. D. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320420428 · Cited by 361
The Neuronal Ceroid-Lipofuscinoses
Haltia, M. (2003) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/62.1.1 · Cited by 353
Neuronal ceroid lipofuscinoses
Jalanko, A., & Braulke, T. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2008.11.004 · Cited by 339
Cited by
Lysosomal cathepsins and their regulation in aging and neurodegeneration
Stoka, V., Turk, V., & Turk, B. (2016) · Ageing Research Reviews · doi:10.1016/j.arr.2016.04.010 · Cited by 334
NCL diseases - clinical perspectives
Schulz, A., Kohlschütter, A., Mink, J., Simonati, A., & Williams, R. (2013) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2013.04.008 · Cited by 246
Nickel, M., Simonati, A., Jacoby, D., Lezius, S., Kilian, D., Van de Graaf, B., Pagovich, O. E., Kosofsky, B., Yohay, K., Downs, M., et al. (2018) · The Lancet Child & Adolescent Health · doi:10.1016/s2352-4642(18)30179-2 · Cited by 148
Sondhi, D., Kaminsky, S. M., Hackett, N. R., Pagovich, O. E., Rosenberg, J. B., De, B. P., Chen, A., Van de Graaf, B., Mezey, J. G., Mammen, G. W., et al. (2020) · Science Translational Medicine · doi:10.1126/scitranslmed.abb5413 · Cited by 72
Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses
Butz, E. S., Chandrachud, U., Mole, S. E., & Cotman, S. L. (2020) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2019.165571 · Cited by 62
Self-citation
Metadata
- Authors
- Kousi, M., Lehesjoki, A.-E., & Mole, S. E.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2011-11-16
- Volume
- 33
- Issue
- 1
- Pages
- 42-63
- ISSN
- 1059-7794 (ISSN-L)
- OpenAlex
- W2078557934
- Cited by
- 332
- References
- 145
- FWCI
- 15.79
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. https://app.cochat.ai/papers/10.1002/humu.21624
- The paper
- Kousi, M., Lehesjoki, A.-E., & Mole, S. E. (2012). Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Human Mutation. https://doi.org/10.1002/humu.21624
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
