Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.

摘要: Mutations in HSPB1 are one of the commonest causes distal Hereditary Motor Neuropathy (dHMN). Transgenic mouse models disease have identified HDAC6 inhibitors as promising treatments for condition paving way human trials. A detailed phenotype and natural history study neuropathy is therefore required order to inform duration outcome measures any future Clinical neurophysiological data lower limb muscle MRI were collected both prospectively retrospectively from patients with mutations HSPB1. The was assessed by recording weighted Charcot-Marie-Tooth Examination Score (CMTES) at annual intervals a subset patients. 20 14 families recruited into study. average age onset 4th decade. Patients presented length dependent but early ankle plantar flexion weakness. Neurophysiology confirmed motor also showed sensory nerve involvement most Cross sectional revealed soleus medial gastrocnemius fat infiltration an signature mutant disease. In this neither semi quantitative MRI, CMTES nor neurophysiology able detect progression over 1 or 2 years. Further studies identify suitable biomarker before clinical trials can be undertaken.