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Motor neuron disease usually refers to amyotrophic lateral sclerosis, but it can also refer to other kind of neurodegenerative disease that affect the motor neurons, such as progressive primary lateral sclerosis, progressive muscular atrophy and progressive bulpar palsy.
Long-read sequencing identifies a GGC-repeat expansion in the coding region of ZFHX3 as the cause of spinocerebellar ataxia type 4. The expansion encodes polyglycine and results in intranuclear aggregates and abnormal autophagy.
A neural stem cell culture system derived from induced pluripotent stem cells forms a network of synaptically connected and electrophysiologically active neurons that were used as a model system to identify a mechanism of TDP-43-induced neurodegeneration.
Two new studies have provided important mechanistic insights into TDP-43 pathology, a hallmark of neurodegenerative conditions such as amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
A new study indicates loss of hypothalamic melanin-concentrating hormone in ALS, providing insights into the mechanisms underlying weight loss in individuals with the disease.