The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
Open accessAbstract
Mutation in the CHMP2B gene has been implicated in frontotemporal dementia. The authors screened CHMP2B in patients with ALS and several cohorts of control samples. They identified mutations (Q206H; I29V) in two patients with non-SOD1 ALS. Neuropathology of the Q206H case showed lower motor neuron predominant disease with ubiquitylated inclusions in motor neurons. Antibodies to p62 (sequestosome 1) showed novel oligodendroglial inclusions in the motor cortex.
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In the citing paper
“CHMP2B mutations were subsequently identified in ALS patients with a lower motor neuron predominant syndrome [266,267].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [267]
In the citing paper
“Although TARDBP is typically absent from neuronal inclusions found in CHMP2B-associated disease, SQSTM1-positive oligodendroglial inclusions are found in the motor cortex of ALS patients with CHMP2B mutations [267].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [267]
In the citing paper
“CHMP2B mutations induce oligodendroglial pathology [267]”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [267]
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Nishimura, A. L., Mitne-Neto, M., Silva, H. C. A., Richieri-Costa, A., Middleton, S., Cascio, D., Kok, F., Oliveira, J. R. M., Gillingwater, T., Webb, J., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/425287 · Cited by 880
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
Skibinski, G., Parkinson, N. J., Brown, J. M., Chakrabarti, L., Lloyd, S. L., Hummerich, H., Nielsen, J. E., Hodges, J. R., Spillantini, M. G., Thusgaard, T., et al. (2005) · Nature Genetics · doi:10.1038/ng1609 · Cited by 822
Self-citationBabst, M., Katzmann, D. J., Snyder, W. B., Wendland, B., & Emr, S. D. (2002) · Developmental Cell · doi:10.1016/s1534-5807(02)00219-8 · Cited by 662
p62 Is a Common Component of Cytoplasmic Inclusions in Protein Aggregation Diseases
Zatloukal, K., Stumptner, C., Fuchsbichler, A., Heid, H., Schnoelzer, M., Kenner, L., Kleinert, R., Prinz, M., Aguzzi, A., & Denk, H. (2002) · The American Journal of Pathology · doi:10.1016/s0002-9440(10)64369-6 · Cited by 624
Frontal lobe dementia and motor neuron disease.
Neary, D., Snowden, J. S., Mann, D. M. A., Northen, B., Goulding, P., & MacDermott, N. (1990) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.53.1.23 · Cited by 437
Corticospinal tract degeneration in the progressive muscular atrophy variant of ALS
Ince, P. G., Evans, J., Knopp, M. V., Forster, G., Hamdalla, H. H. M., Wharton, S. B., & Shaw, P. J. (2003) · Neurology · doi:10.1212/01.wnl.0000058901.75728.4e · Cited by 303
Self-citationOtomo, A. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg184 · Cited by 250
Ince (1998) · doi:10.1046/j.1365-2990.1998.00108.x · Cited by 224
Self-citationCHMP2B mutations are not a common cause of frontotemporal lobar degeneration
Cannon, A. D., Baker, M., Boeve, B. F., Josephs, K. A., Knopman, D. S., Petersen, R. C., Parisi, J. E., Dickison, D., Adamson, J. L., Snowden, J. S., et al. (2006) · Neuroscience Letters · doi:10.1016/j.neulet.2005.12.056 · Cited by 62
Disease penetrance in amyotrophic lateral sclerosis associated with mutations in the SOD1 gene
Andersen, P. M., Restagno, G., Stewart, H. G., & Chiò, A. (2004) · Annals of Neurology · doi:10.1002/ana.10850 · Cited by 25
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Hardiman, O. M., Al‐Chalabi, A., Chiò, A., Corr, E. M., Logroscino, G., Robberecht, W., Shaw, P. J., Simmons, Z., & van den Berg, L. H. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.71 · Cited by 2,237
Self-citationDecoding ALS: from genes to mechanism
Taylor, J. P., Brown, R. H., & Cleveland, D. W. (2016) · Nature · doi:10.1038/nature20413 · Cited by 2,120
Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis
Ling, S.-C., Polymenidou, M., & Cleveland, D. W. (2013) · Neuron · doi:10.1016/j.neuron.2013.07.033 · Cited by 1,811
Regulation of Mammalian Autophagy in Physiology and Pathophysiology
Ravikumar, B., Sarkar, S., Davies, J. E., Futter, M., García-Arencibia, M., Green-Thompson, Z. W., Jiménez-Sánchez, M., Korolchuk, V. I., Lichtenberg, M., Luo, S., et al. (2010) · Physiological Reviews · doi:10.1152/physrev.00030.2009 · Cited by 1,789
State of play in amyotrophic lateral sclerosis genetics
Renton, A. E., Chiò, A., & Traynor, B. J. (2013) · Nature Neuroscience · doi:10.1038/nn.3584 · Cited by 1,626
Metadata
- Authors
- Parkinson, N., Ince, P. G., Smith, M. O., Highley, R., Skibinski, G., Andersen, P. M., Morrison, K. E., Pall, H. S., Hardiman, O., Collinge, J., Shaw, P. J., & Fisher, E. C.
- Affiliations
- Beaumont Hospital (IE)
- Corresponding author
- Ince, P. G.
- Venue
- Neurology
- Published
- 2006-09-26
- Volume
- 67
- Issue
- 6
- Pages
- 1074-1077
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2147729862
- Cited by
- 395
- References
- 10
- Citations by year
- 2026: 5 · 2025: 14 · 2024: 12 · 2023: 8 · 2022: 15 · 2021: 17 · 2020: 23 · 2019: 19 · 2018: 23 · 2017: 21 · 2016: 24 · 2015: 30 · 2014: 17 · 2013: 22 · 2012: 34
- FWCI
- 15.50
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
- Funders
- Wellcome Trust
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Keywords
- amyotrophic lateral sclerosis, CHMP2B, ubiquitin-positive inclusions, motor neurons, oligodendroglial inclusions, motor cortex, p62, frontotemporal dementia
- MeSH terms
- Sequestosome-1 Protein, Aged, Amyotrophic Lateral Sclerosis, Brain, DNA Mutational Analysis, Glial Fibrillary Acidic Protein, Glutamine, Histidine, Humans, Immunohistochemistry, Isoleucine, Male, Mutation, Nerve Tissue Proteins, Phenotype, Proteins, RNA, Messenger, Spinal Cord, Valine, tau Proteins, Neurofilament Proteins, Reverse Transcriptase Polymerase Chain Reaction, Ubiquitin, Adaptor Proteins, Signal Transducing, alpha-Synuclein, Endosomal Sorting Complexes Required for Transport
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