MOLECULAR DIAGNOSIS OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) BY DETECTION OF 17P11.2 DELETION IN ITALIAN PATIENTS

Hereditary neuropathy with a liability to pressure palsies (HNPP) is a n autosomal dominant disorder characterized by recurrent pressure pals ies generally precipitated by minor trauma; weakness and paraesthesia usually improve and recover completely in a few months. By Southern bl otting and fluorescent in situ hybridization analysis we confirm the p resence of a 17p11.2 deletion in familial and in isolated cases of HNP P, suggesting that molecular analysis of the 17p11.2 region could also be a reliable and non-invasive method of diagnosis in sporadic cases, where a correct diagnosis usually requires a nerve biopsy. Although H NPP is a mild disease and not all patients seek medical attention, a p resymptomatic diagnosis is useful for assessing the risk during geneti c counselling, due to the inheritance of the mutation.