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 p...

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Veröffentlicht in:	Neurology 2006-09, Vol.67 (6), p.1074-1077
Hauptverfasser:	PARKINSON, N, INCE, P. G, SHAW, P. J, FISHER, E. M. C, SMITH, M. O, HIGHLEY, R, SKIBINSKI, G, ANDERSEN, P. M, MORRISON, K. E, PALL, H. S, HARDIMAN, O, COLLINGE, J
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing Aged alpha-Synuclein - metabolism Amyotrophic Lateral Sclerosis - genetics Amyotrophic Lateral Sclerosis - pathology Biological and medical sciences Brain - pathology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Diseases of striated muscles. Neuromuscular diseases DNA Mutational Analysis - methods Endosomal Sorting Complexes Required for Transport Glial Fibrillary Acidic Protein - metabolism Glutamine - genetics Histidine - genetics Humans Immunohistochemistry - methods Isoleucine - genetics Male Medical sciences Mutation Nerve Tissue Proteins - genetics Nerve Tissue Proteins - metabolism Neurofilament Proteins - metabolism Neurology Phenotype Proteins - metabolism Reverse Transcriptase Polymerase Chain Reaction - methods RNA, Messenger - genetics RNA, Messenger - metabolism Sequestosome-1 Protein Spinal Cord - pathology tau Proteins - metabolism Ubiquitin - metabolism Valine - genetics
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Zusammenfassung:	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.
ISSN:	0028-3878 1526-632X 1526-632X
DOI:	10.1212/01.wnl.0000231510.89311.8b