Hereditary sensory ataxic neuropathy associated with proximal muscle weakness in the lower extremities

A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect

“…Patients were not screened for PIEZO2 mutations, but, unlike ours, their sensory complaints went beyond sole ataxia, proximal muscle weakness was systematic, age at onset was much older (after 40 years), and there was neither scoliosis nor respiratory failure. [16].…”