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..
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
1995 |
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| Erschienen: |
1995 |
| Reproduktion: |
Springer Online Journal Archives 1860-2002 |
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| Enthalten in: |
Zur Gesamtaufnahme - volume:242 |
| Enthalten in: |
Journal of neurology - 242(1995) vom: Mai, Seite 295-298 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Mandich, Paola [Sonstige Person] |
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| Links: |
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| Umfang: |
4 |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLEJ209007796 |
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| 245 | 1 | 0 | |a Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients |
| 264 | 1 | |c 1995 | |
| 300 | |a 4 | ||
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| 520 | |a 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. | ||
| 533 | |f Springer Online Journal Archives 1860-2002 | ||
| 700 | 1 | |a Mandich, Paola |4 oth | |
| 700 | 1 | |a James, Rosella |4 oth | |
| 700 | 1 | |a Nassani, Stefano |4 oth | |
| 700 | 1 | |a Defferrari, Raffaella |4 oth | |
| 700 | 1 | |a Bellone, Emilia |4 oth | |
| 700 | 1 | |a Mancardi, GianLuigi |4 oth | |
| 700 | 1 | |a Schenone, Angelo |4 oth | |
| 700 | 1 | |a Abbruzzese, Michele |4 oth | |
| 700 | 1 | |a Rocchi, Mariano |4 oth | |
| 700 | 1 | |a Ajmar, Franco |4 oth | |
| 700 | 1 | |a Archidiacono, Nicoletta |4 oth | |
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| 773 | 1 | 8 | |g volume:242 |g year:1995 |g month:05 |g pages:295-298 |g extent:4 |
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