ISSN:
1432-1459
Keywords:
Hereditary neuropathy
;
Fluorescent in situ hybridization
;
17p11.2 deletion
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00878871
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