ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
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.
1074-1077
Parkinson, N.
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Ince, P.G.
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Smith, M.O.
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Highley, R.
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Skibinski, G.
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Andersen, P.M.
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Morrison, K.E.
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Pall, H.S.
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Hardiman, O.
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Collinge, J.
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Shaw, P.J.
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Fisher, E.C.
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September 2006
Parkinson, N.
b74d3fc3-9759-4571-80ce-c1de4cc5a769
Ince, P.G.
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Smith, M.O.
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Highley, R.
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Skibinski, G.
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Andersen, P.M.
0754a518-761c-4d8a-8011-e138fa99c9a1
Morrison, K.E.
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Pall, H.S.
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Hardiman, O.
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Collinge, J.
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Shaw, P.J.
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Fisher, E.C.
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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. and Fisher, E.C.
(2006)
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).
Neurology, 67 (6), .
(doi:10.1212/01.wnl.0000231510.89311.8b).
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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e-pub ahead of print date: 28 June 2003
Published date: September 2006
Organisations:
Medical Education
Identifiers
Local EPrints ID: 398836
URI: http://eprints.soton.ac.uk/id/eprint/398836
ISSN: 0028-3878
PURE UUID: c3f9234c-cfdc-4bcf-940e-bdc26a3f0104
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Date deposited: 02 Aug 2016 12:17
Last modified: 15 Mar 2024 01:43
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Contributors
Author:
N. Parkinson
Author:
P.G. Ince
Author:
M.O. Smith
Author:
R. Highley
Author:
G. Skibinski
Author:
P.M. Andersen
Author:
K.E. Morrison
Author:
H.S. Pall
Author:
O. Hardiman
Author:
J. Collinge
Author:
P.J. Shaw
Author:
E.C. Fisher
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