Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients.
J Neurol
; 242(5): 295-8, 1995 May.
Article
em En
| MEDLINE
| ID: mdl-7643137
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.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 17
/
Deleção Cromossômica
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Doenças do Sistema Nervoso Periférico
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Genes Dominantes
Idioma:
En
Ano de publicação:
1995
Tipo de documento:
Article