Abstract
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent mononeuropathies or brachial plexopathies, commonly associated with a chromosome 17p11.2-12 deletion encompassing the peripheral myelin protein-22 (PMP22) gene. We tried to identify criteria distinguishing HNPP among patients with acute painless mononeuropathy/plexopathy. We investigated by pulsed-field gel electrophoresis the presence of the deletion in 27 patients with isolated or recurrent acute painless mononeuropathy or brachial plexopathy, and no obvious cause of neuropathy. Eight patients carried the deletion, whereas 19 had neither the deletion nor mutations in the PMP22 gene. Age at onset, presenting modality, precipitating events, and rate of recovery did not significantly differ in the two groups. Family history was informative for HNPP diagnosis in 3 cases only. HNPP patients more often showed recurrent episodes, brachial plexopathy, and clinical or electrophysiologic involvement of other nerves. Non-HNPP patients more frequently had peroneal palsy, recent weight loss, and normal electrophysiologic examination in other nerves. Signs of generalized neuropathy and evidence of disease in other family member are often subtle in HNPP and must be thoroughly investigated in patients with acute painless mononeuropathy/plexopathy.
| Original language | English |
|---|---|
| Pages (from-to) | 1686-1691 |
| Number of pages | 6 |
| Journal | Muscle and Nerve |
| Volume | 21 |
| Issue number | 12 |
| DOIs | |
| Publication status | Published - 1998 |
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Keywords
- Hereditary neuropathy
- HNPP
- Mononeuropathy
- Plexopathy
- PMP22
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)
Cite this
Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy. / Pareyson, Davide; Solari, Alessandra; Taroni, Franco; Botti, Sara; Fallica, Elisa; Scaioli, Vidmer; Ciano, Claudia; Sghirlanzoni, Angelo.
In: Muscle and Nerve, Vol. 21, No. 12, 1998, p. 1686-1691.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy
AU - Pareyson, Davide
AU - Solari, Alessandra
AU - Taroni, Franco
AU - Botti, Sara
AU - Fallica, Elisa
AU - Scaioli, Vidmer
AU - Ciano, Claudia
AU - Sghirlanzoni, Angelo
PY - 1998
Y1 - 1998
N2 - Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent mononeuropathies or brachial plexopathies, commonly associated with a chromosome 17p11.2-12 deletion encompassing the peripheral myelin protein-22 (PMP22) gene. We tried to identify criteria distinguishing HNPP among patients with acute painless mononeuropathy/plexopathy. We investigated by pulsed-field gel electrophoresis the presence of the deletion in 27 patients with isolated or recurrent acute painless mononeuropathy or brachial plexopathy, and no obvious cause of neuropathy. Eight patients carried the deletion, whereas 19 had neither the deletion nor mutations in the PMP22 gene. Age at onset, presenting modality, precipitating events, and rate of recovery did not significantly differ in the two groups. Family history was informative for HNPP diagnosis in 3 cases only. HNPP patients more often showed recurrent episodes, brachial plexopathy, and clinical or electrophysiologic involvement of other nerves. Non-HNPP patients more frequently had peroneal palsy, recent weight loss, and normal electrophysiologic examination in other nerves. Signs of generalized neuropathy and evidence of disease in other family member are often subtle in HNPP and must be thoroughly investigated in patients with acute painless mononeuropathy/plexopathy.
AB - Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent mononeuropathies or brachial plexopathies, commonly associated with a chromosome 17p11.2-12 deletion encompassing the peripheral myelin protein-22 (PMP22) gene. We tried to identify criteria distinguishing HNPP among patients with acute painless mononeuropathy/plexopathy. We investigated by pulsed-field gel electrophoresis the presence of the deletion in 27 patients with isolated or recurrent acute painless mononeuropathy or brachial plexopathy, and no obvious cause of neuropathy. Eight patients carried the deletion, whereas 19 had neither the deletion nor mutations in the PMP22 gene. Age at onset, presenting modality, precipitating events, and rate of recovery did not significantly differ in the two groups. Family history was informative for HNPP diagnosis in 3 cases only. HNPP patients more often showed recurrent episodes, brachial plexopathy, and clinical or electrophysiologic involvement of other nerves. Non-HNPP patients more frequently had peroneal palsy, recent weight loss, and normal electrophysiologic examination in other nerves. Signs of generalized neuropathy and evidence of disease in other family member are often subtle in HNPP and must be thoroughly investigated in patients with acute painless mononeuropathy/plexopathy.
KW - Hereditary neuropathy
KW - HNPP
KW - Mononeuropathy
KW - Plexopathy
KW - PMP22
UR - http://www.scopus.com/inward/record.url?scp=0031760676&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031760676&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1097-4598(199812)21:12<1686::AID-MUS10>3.0.CO;2-Z
DO - 10.1002/(SICI)1097-4598(199812)21:12<1686::AID-MUS10>3.0.CO;2-Z
M3 - Article
VL - 21
SP - 1686
EP - 1691
JO - Muscle and Nerve
JF - Muscle and Nerve
SN - 0148-639X
IS - 12
ER -