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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.
Amyotrophic Lateral Sclerosis is characterized by TDP-43 proteinopathy in the brain. Here, the authors find TDP-43 aggregation might be mediated by the loss of Asparaginase-like 1, an enzyme that degrades detrimental isoaspartates and is downregulated by the endogenous retrovirus HML-2.
Cell-mediated cytotoxicity observed in untreated SMA patients’ CSF and brain parenchyma. Spatial transcriptomic and multiplex immunohistochemistry linked cytotoxicity near affected motoneurons. Nusinersen treatment showed no impact on this profile.
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.
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.