Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family.

Autosomal-recessive hereditary inclusion-body myopathy with relative quadriceps sparing is associated with mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Two Italian sisters affected with autosomal-recessive hIBM were shown to be compound heterozygous for a novel GNE mutation: a p.A310P amino acid change along with a p.R246W mutation on the second allele both in the epimerase domain. This is the first mutation event observed in a human GNE allele inducing a proline. Muscle biopsy showed abundant rimmed and non-rimmed vacuoles. Severe disease progression was noted in the elder sister. The Italian family further expands the wide phenotypic and genotypic spectrum of hIBM.

Sympathetic vasomotor response of the radial artery in patients with diabetic foot syndrome.

OBJECTIVE: Neurophysiological assessment of the peripheral autonomic system is characterized by various limitations. An alternative approach to laser Doppler and venous plethymography is the assessment of the sympathetic vasomotor response of the radial artery obtained by continuous wave Doppler sonography. Nomogram data have been established and demonstrate the temporary disappearance of diastolic flow after coughing or deep inspiration. RESEARCH DESIGN AND METHODS: We assessed the sympathetic vasomotor response in 25 patients (mean age 64 years, range 43-76) with diabetic foot syndrome. The Doppler data were correlated with nerve conduction studies of the median and peroneal nerve, the extent of radiologically diagnosed media sclerosis, and compared with nomogram values (n = 41). RESULTS: Although similar mean flow velocities were found under baseline conditions, the flow pattern was characterized by higher pulsatility in the diabetic group (resistance index [RI] 1.1 vs. 0.7). No significant difference in RI was observed after coughing. The latency of onset of the response was prolonged (2.1 vs. 1.5 s), while the duration of the response did not differ (18 vs. 15 s). Only the nerve conduction velocity of the peroneal nerve correlated inversely with the RI. The extent of radiologically proven calcification tended to correlate with the pulsatility of the baseline signal and the response latencies. CONCLUSIONS: The data obtained by this study suggest the concurrent existence of reduced vessel elasticity due to media sclerosis and dysfunction of the autonomic vasomotor system.