title: Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients.
abstract: Hereditary neuropathy with a liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent pressure palsies generally precipitated by minor trauma; weakness and paraesthesia usually improve and recover completely in a few months. By Southern blotting and fluorescent in situ hybridization analysis we confirm the presence of a 17p11.2 deletion in familial and in isolated cases of HNPP, 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 HNPP is a mild disease and not all patients seek medical attention, a presymptomatic diagnosis is useful for assessing the risk during genetic counselling, due to the inheritance of the mutation.
authors.affiliation: Institute of Biology and Genetics, Genoa, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Mandich
authors.forename: R
authors.initials: R
authors.lastname: James
authors.forename: S
authors.initials: S
authors.lastname: Nassani
authors.forename: R
authors.initials: R
authors.lastname: Defferrari
authors.forename: E
authors.initials: E
authors.lastname: Bellone
authors.forename: G
authors.initials: G
authors.lastname: Mancardi
authors.forename: A
authors.initials: A
authors.lastname: Schenone
authors.forename: M
authors.initials: M
authors.lastname: Abbruzzese
authors.forename: M
authors.initials: M
authors.lastname: Rocchi
authors.forename: F
authors.initials: F
authors.lastname: Ajmar
mesh_terms: D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D005799:Genes, Dominant; D005817:Genetic Counseling; D006801:Humans; D007558:Italy; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D010641:Phenotype