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June 28, 2006

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

September 26, 2006 issue
67 (6) 1074-1077

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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Published In

Neurology®
Volume 67Number 6September 26, 2006
Pages: 1074-1077
PubMed: 16807408

Publication History

Published online: June 28, 2006
Published in print: September 26, 2006

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Authors

Affiliations & Disclosures

N. Parkinson, PhD
From the MRC Prion Unit (N.P., G.S., J.C.) and Department of Neurodegenerative Disease (J.C., E.M.C.F.), Institute of Neurology, University College London, London, UK; Academic Units of Pathology (P.G.I., M.O.S., R.H.) and Neurology (P.J.S.), University of Sheffield, Sheffield, UK; Department of Neurology and Clinical Neuroscience (P.M.A.), Umeå University Hospital, Umeå, Sweden; Division of Neuroscience (K.E.M., H.S.P.), University of Birmingham, Birmingham, UK; and Department of Neurology (O.H.), Beaumont Hospital, Dublin, Eire.
P. G. Ince, MD
From the MRC Prion Unit (N.P., G.S., J.C.) and Department of Neurodegenerative Disease (J.C., E.M.C.F.), Institute of Neurology, University College London, London, UK; Academic Units of Pathology (P.G.I., M.O.S., R.H.) and Neurology (P.J.S.), University of Sheffield, Sheffield, UK; Department of Neurology and Clinical Neuroscience (P.M.A.), Umeå University Hospital, Umeå, Sweden; Division of Neuroscience (K.E.M., H.S.P.), University of Birmingham, Birmingham, UK; and Department of Neurology (O.H.), Beaumont Hospital, Dublin, Eire.
M. O. Smith, BSc
From the MRC Prion Unit (N.P., G.S., J.C.) and Department of Neurodegenerative Disease (J.C., E.M.C.F.), Institute of Neurology, University College London, London, UK; Academic Units of Pathology (P.G.I., M.O.S., R.H.) and Neurology (P.J.S.), University of Sheffield, Sheffield, UK; Department of Neurology and Clinical Neuroscience (P.M.A.), Umeå University Hospital, Umeå, Sweden; Division of Neuroscience (K.E.M., H.S.P.), University of Birmingham, Birmingham, UK; and Department of Neurology (O.H.), Beaumont Hospital, Dublin, Eire.
R. Highley, PhD
From the MRC Prion Unit (N.P., G.S., J.C.) and Department of Neurodegenerative Disease (J.C., E.M.C.F.), Institute of Neurology, University College London, London, UK; Academic Units of Pathology (P.G.I., M.O.S., R.H.) and Neurology (P.J.S.), University of Sheffield, Sheffield, UK; Department of Neurology and Clinical Neuroscience (P.M.A.), Umeå University Hospital, Umeå, Sweden; Division of Neuroscience (K.E.M., H.S.P.), University of Birmingham, Birmingham, UK; and Department of Neurology (O.H.), Beaumont Hospital, Dublin, Eire.
G. Skibinski, PhD
From the MRC Prion Unit (N.P., G.S., J.C.) and Department of Neurodegenerative Disease (J.C., E.M.C.F.), Institute of Neurology, University College London, London, UK; Academic Units of Pathology (P.G.I., M.O.S., R.H.) and Neurology (P.J.S.), University of Sheffield, Sheffield, UK; Department of Neurology and Clinical Neuroscience (P.M.A.), Umeå University Hospital, Umeå, Sweden; Division of Neuroscience (K.E.M., H.S.P.), University of Birmingham, Birmingham, UK; and Department of Neurology (O.H.), Beaumont Hospital, Dublin, Eire.
P. M. Andersen, MD
From the MRC Prion Unit (N.P., G.S., J.C.) and Department of Neurodegenerative Disease (J.C., E.M.C.F.), Institute of Neurology, University College London, London, UK; Academic Units of Pathology (P.G.I., M.O.S., R.H.) and Neurology (P.J.S.), University of Sheffield, Sheffield, UK; Department of Neurology and Clinical Neuroscience (P.M.A.), Umeå University Hospital, Umeå, Sweden; Division of Neuroscience (K.E.M., H.S.P.), University of Birmingham, Birmingham, UK; and Department of Neurology (O.H.), Beaumont Hospital, Dublin, Eire.
K. E. Morrison, PhD
From the MRC Prion Unit (N.P., G.S., J.C.) and Department of Neurodegenerative Disease (J.C., E.M.C.F.), Institute of Neurology, University College London, London, UK; Academic Units of Pathology (P.G.I., M.O.S., R.H.) and Neurology (P.J.S.), University of Sheffield, Sheffield, UK; Department of Neurology and Clinical Neuroscience (P.M.A.), Umeå University Hospital, Umeå, Sweden; Division of Neuroscience (K.E.M., H.S.P.), University of Birmingham, Birmingham, UK; and Department of Neurology (O.H.), Beaumont Hospital, Dublin, Eire.
H. S. Pall, MD
From the MRC Prion Unit (N.P., G.S., J.C.) and Department of Neurodegenerative Disease (J.C., E.M.C.F.), Institute of Neurology, University College London, London, UK; Academic Units of Pathology (P.G.I., M.O.S., R.H.) and Neurology (P.J.S.), University of Sheffield, Sheffield, UK; Department of Neurology and Clinical Neuroscience (P.M.A.), Umeå University Hospital, Umeå, Sweden; Division of Neuroscience (K.E.M., H.S.P.), University of Birmingham, Birmingham, UK; and Department of Neurology (O.H.), Beaumont Hospital, Dublin, Eire.
O. Hardiman, PhD
From the MRC Prion Unit (N.P., G.S., J.C.) and Department of Neurodegenerative Disease (J.C., E.M.C.F.), Institute of Neurology, University College London, London, UK; Academic Units of Pathology (P.G.I., M.O.S., R.H.) and Neurology (P.J.S.), University of Sheffield, Sheffield, UK; Department of Neurology and Clinical Neuroscience (P.M.A.), Umeå University Hospital, Umeå, Sweden; Division of Neuroscience (K.E.M., H.S.P.), University of Birmingham, Birmingham, UK; and Department of Neurology (O.H.), Beaumont Hospital, Dublin, Eire.
J. Collinge, MD
From the MRC Prion Unit (N.P., G.S., J.C.) and Department of Neurodegenerative Disease (J.C., E.M.C.F.), Institute of Neurology, University College London, London, UK; Academic Units of Pathology (P.G.I., M.O.S., R.H.) and Neurology (P.J.S.), University of Sheffield, Sheffield, UK; Department of Neurology and Clinical Neuroscience (P.M.A.), Umeå University Hospital, Umeå, Sweden; Division of Neuroscience (K.E.M., H.S.P.), University of Birmingham, Birmingham, UK; and Department of Neurology (O.H.), Beaumont Hospital, Dublin, Eire.
P. J. Shaw, MD
From the MRC Prion Unit (N.P., G.S., J.C.) and Department of Neurodegenerative Disease (J.C., E.M.C.F.), Institute of Neurology, University College London, London, UK; Academic Units of Pathology (P.G.I., M.O.S., R.H.) and Neurology (P.J.S.), University of Sheffield, Sheffield, UK; Department of Neurology and Clinical Neuroscience (P.M.A.), Umeå University Hospital, Umeå, Sweden; Division of Neuroscience (K.E.M., H.S.P.), University of Birmingham, Birmingham, UK; and Department of Neurology (O.H.), Beaumont Hospital, Dublin, Eire.
EM C. Fisher, PhD
From the MRC Prion Unit (N.P., G.S., J.C.) and Department of Neurodegenerative Disease (J.C., E.M.C.F.), Institute of Neurology, University College London, London, UK; Academic Units of Pathology (P.G.I., M.O.S., R.H.) and Neurology (P.J.S.), University of Sheffield, Sheffield, UK; Department of Neurology and Clinical Neuroscience (P.M.A.), Umeå University Hospital, Umeå, Sweden; Division of Neuroscience (K.E.M., H.S.P.), University of Birmingham, Birmingham, UK; and Department of Neurology (O.H.), Beaumont Hospital, Dublin, Eire.
on behalf of the MRC Proteomics in ALS Study and the FReJA Consortium
From the MRC Prion Unit (N.P., G.S., J.C.) and Department of Neurodegenerative Disease (J.C., E.M.C.F.), Institute of Neurology, University College London, London, UK; Academic Units of Pathology (P.G.I., M.O.S., R.H.) and Neurology (P.J.S.), University of Sheffield, Sheffield, UK; Department of Neurology and Clinical Neuroscience (P.M.A.), Umeå University Hospital, Umeå, Sweden; Division of Neuroscience (K.E.M., H.S.P.), University of Birmingham, Birmingham, UK; and Department of Neurology (O.H.), Beaumont Hospital, Dublin, Eire.

Notes

Address correspondence and reprint requests to Dr. Paul Ince, Academic Unit of Pathology, Medical School, Beech Hill Road, Sheffield, UK S10 2RX; e-mail: [email protected].

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