title: ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).
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.
authors.affiliation: MRC Prion Unit, Institute of Neurology, University College London, London, UK.
authors.forename: N
authors.initials: N
authors.lastname: Parkinson
authors.forename: P G
authors.initials: PG
authors.lastname: Ince
authors.forename: M O
authors.initials: MO
authors.lastname: Smith
authors.forename: R
authors.initials: R
authors.lastname: Highley
authors.forename: G
authors.initials: G
authors.lastname: Skibinski
authors.forename: P M
authors.initials: PM
authors.lastname: Andersen
authors.forename: K E
authors.initials: KE
authors.lastname: Morrison
authors.forename: H S
authors.initials: HS
authors.lastname: Pall
authors.forename: O
authors.initials: O
authors.lastname: Hardiman
authors.forename: J
authors.initials: J
authors.lastname: Collinge
authors.forename: P J
authors.initials: PJ
authors.lastname: Shaw
authors.forename: E M C
authors.initials: EM
authors.lastname: Fisher
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D056827:Endosomal Sorting Complexes Required for Transport; D005904:Glial Fibrillary Acidic Protein / Q000378:metabolism; D005973:Glutamine / Q000235:genetics; D006639:Histidine / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D007532:Isoleucine / Q000235:genetics; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D016900:Neurofilament Proteins / Q000378:metabolism; D010641:Phenotype; D011506:Proteins / Q000378:metabolism; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D000071456:Sequestosome-1 Protein; D013116:Spinal Cord / Q000473:pathology; D025801:Ubiquitin / Q000378:metabolism; D014633:Valine / Q000235:genetics; D051844:alpha-Synuclein / Q000378:metabolism; D016875:tau Proteins / Q000378:metabolism
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C503812:CHMP2B protein, human; D056827:Endosomal Sorting Complexes Required for Transport; D005904:Glial Fibrillary Acidic Protein; D009419:Nerve Tissue Proteins; D016900:Neurofilament Proteins; D011506:Proteins; D012333:RNA, Messenger; C099718:SQSTM1 protein, human; D000071456:Sequestosome-1 Protein; D025801:Ubiquitin; D051844:alpha-Synuclein; D016875:tau Proteins; D007532:Isoleucine; D005973:Glutamine; D006639:Histidine; D014633:Valine