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Mutations in the ganglioside-induced differentiation associated-protein 1 (GDAP1) gene have been associated with both autosomal recessive (AR) and dominant (AD) Charcot-Marie-Tooth (CMT) axonal neuropathy. The relative frequency of heterozygous, dominant mutations in Italian CMT is unknown. We investigated the frequency of dominant mutations in GDAP1 in a cohort of 109 axonal Italian patients by sequencing genomic DNA and search for copy number variations. We also explored correlations with clinical features. All cases had already been tested for variants in common axonal AD genes. Eight patients (7.3%) harbored five already reported heterozygous mutations in GDAP1 (p.Arg120Gly, p.Arg120Trp, p.His123Arg, p.Gln218Glu, p.Arg226Ser). Mutations had different penetrances in the families; the onset of symptoms is in the first decade and progression is slower than usually seen in GDAP1-related AR-CMT. We show that the relative frequency of mutations in GDAP was slightly higher than those observed in MFN2 and MPZ (7.3% vs 6.3% and 5.0%). The relatively milder clinical features and the quite indolent course observed are relevant for prognostic assessment. On the basis of our experience and the data reported here, we suggest GDAP1 as the first gene that should be analysed in Italian patients affected by CMT2.

In view of direct inkjet printing of low-cost sensors, we describe here the thermal printing of a thin film of a commercially available conjugated polymer (poly(3,4-ethylenedioxythiophene):polystyrene sulfonic acid, PEDOT:PSS). The printed film has been investigated by optical microscopy, AFM and cyclic voltammetry. The results have been compared to the ones obtained for a continuous film of the same polymer deposed by spin-coating. No appreciable differences were noted between the electrochemical behaviour of the two samples, indicating that the thermal printing of the polymer did not alter appreciably the material properties. Our findings indicate that the thermal printing route may be then a good alternative for the controlled deposition of thin films of conjugated polymers.