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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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“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]
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“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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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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