An international multicentre study reports on the clinical, molecular and imaging variety of 47 individuals from 43 families with a mutation 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.
