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

N. Parkinson, PhD^*, P. G. Ince, MD^*, M. O. Smith, BSc, R. Highley, PhD, G. Skibinski, PhD, P. M. Andersen, MD, K. E. Morrison, PhD, H. S. Pall, MD, O. Hardiman, PhD, J. Collinge, MD, P. J. Shaw, MD^*, EM C. Fisher, PhD^* 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.

Address correspondence and reprint requests to Dr. Paul Ince, Academic Unit of Pathology, Medical School, Beech Hill Road, Sheffield, UK S10 2RX; e-mail: p.g.ince{at}shef.ac.uk.

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.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the September 26 issue to find the title link for this article.

This article was previously published in electronic format as an Expedited E-Pub on June 28, 2006, at www.neurology.org.

*Authors contributed equally to this study.

See appendix for a list of Group members.

Supported by the UK Medical Research Council (N.P., G.S., J.C., P.G.I., P.J.S.), the Motor Neurone Disease Association (E.M.C.F., P.G.I., P.J.S.), the Kempe Fund, the Björklund Fund, the Hållsten Research Fund (P.M.A.), and the Wellcome Trust (P.J.S.).

Disclosure: The authors report no conflicts of interest.

Received February 16, 2005. Accepted in final form May 12, 2006.

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