Cited by 395Amyotrophic Lateral Sclerosis ResearchHereditary Neurological DisordersAlzheimer's disease research and treatments

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ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

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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, EM C.·2006·Neurology

DOI 10.1212/01.wnl.0000231510.89311.8b

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Abstract

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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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.
ORCID: Parkinson, N.
Ince, P. G.
Andersen, P. M.
Morrison, K. E.
Hardiman, O.
Collinge, J.
Shaw, P. J.
Venue: Neurology
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2006-09-26
Volume: 67
Issue: 6
Pages: 1074-1077
ISSN: 0028-3878 (ISSN-L)
1526-632X
DOI: 10.1212/01.wnl.0000231510.89311.8b
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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ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

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