An overview of DYNC1H1-related dyneinopathies

An international multicentre study reports on the clinical, molecular and imaging variety of 47 individuals from 43 families with a mutationModification soudaine et transmissible du matériel génétique. Elle peut être spontanée ou induite par des agents dits » mutagènes » (radiations, produits toxiques,…). in the DYNC1H1 gene. This gene encodes the heavy chain of plasma dynein 1, which plays a central role in retrograde transport along neuronal axons. In addition to motor neuron damage, patients presented with :

• neurological signs of the dysautonomic type, behavioural disorders, abnormal movements, cerebral periventricular lesions and, in some cases, sensory signs;
  multi-systemic signs such as primary immune deficiency, bilateral deafness, organic
• abnormalities (endocrine, pulmonary, cardiac) and/or skeletal manifestations from the spectrum of other dyneinopathies;
• with lifelong progression, linked to altered intracellular trafficking, and exacerbated by viral infections.

The expanding clinical and genetic spectrum of DYNC1H1-related disorders. Möller B, Becker LL, Saffari A et al. Brain. 2024 Jun 8:awae183.