Charcot-Marie-Tooth (CMT) disease is a group of clinically and genetically heterogeneous sensorimotor peripheral neuropathies. It is the most frequent inherited neuromuscular disorder affecting 9.7-82.3 patients per 100,000 individuals. Over 100 genes with all patterns of inheritance have been linked to CMT. These genes encode proteins involved in nerve-specific processes, such as axonal transport, myelination and synaptic transmission, and in general housekeeping pathways. However, the reason underlying why defects in such ubiquitous proteins predominantly affect peripheral nerves remains unclear.
Neurotrimin (NTM) is a member of the IgLON family, the disruption of which has been tied to emotional learning deficits and anxiety-like behavior in animal models. A mutation in the NTM gene was found to disrupt NTM protein heterodimerization with other IgLON family members, suggesting a potential link between NTM dysfunction and neurodevelopmental and behavioral disorders.
Researchers from Goethe-Universität and collaborators investigated novel molecular biomarker candidates for spinocerebellar ataxia type 2, a progressive neurodegenerative disorder caused by a CAG repeat expansion mutation in the coding region of the ATXN2 gene, which encodes ataxin-2.
