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.
Publication types
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Case Reports
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Adaptor Proteins, Signal Transducing
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Aged
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Amyotrophic Lateral Sclerosis / genetics*
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Amyotrophic Lateral Sclerosis / pathology
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Brain / pathology
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DNA Mutational Analysis / methods
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Endosomal Sorting Complexes Required for Transport
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Glial Fibrillary Acidic Protein / metabolism
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Glutamine / genetics
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Histidine / genetics
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Humans
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Immunohistochemistry / methods
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Isoleucine / genetics
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Male
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Mutation*
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Nerve Tissue Proteins / genetics*
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Nerve Tissue Proteins / metabolism
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Neurofilament Proteins / metabolism
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Phenotype
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Proteins / metabolism
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RNA, Messenger / genetics
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RNA, Messenger / metabolism
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Reverse Transcriptase Polymerase Chain Reaction / methods
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Sequestosome-1 Protein
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Spinal Cord / pathology
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Ubiquitin / metabolism
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Valine / genetics
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alpha-Synuclein / metabolism
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tau Proteins / metabolism
Substances
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Adaptor Proteins, Signal Transducing
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CHMP2B protein, human
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Endosomal Sorting Complexes Required for Transport
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Glial Fibrillary Acidic Protein
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Nerve Tissue Proteins
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Neurofilament Proteins
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Proteins
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RNA, Messenger
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SQSTM1 protein, human
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Sequestosome-1 Protein
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Ubiquitin
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alpha-Synuclein
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tau Proteins
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Isoleucine
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Glutamine
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Histidine
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Valine