Document Detail

Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy.
MedLine Citation:
PMID:  9843070     Owner:  NLM     Status:  MEDLINE    
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.
D Pareyson; A Solari; F Taroni; S Botti; E Fallica; V Scaioli; C Ciano; A Sghirlanzoni
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Muscle & nerve     Volume:  21     ISSN:  0148-639X     ISO Abbreviation:  Muscle Nerve     Publication Date:  1998 Dec 
Date Detail:
Created Date:  1998-12-23     Completed Date:  1998-12-23     Revised Date:  2012-02-22    
Medline Journal Info:
Nlm Unique ID:  7803146     Medline TA:  Muscle Nerve     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1686-91     Citation Subset:  IM    
Department of Neurology, Istituto Nazionale Neurologico C.Besta, Milan, Italy.
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MeSH Terms
Action Potentials / physiology
Acute Disease
Diagnosis, Differential
Electrophoresis, Gel, Pulsed-Field
Gene Deletion
Genetic Predisposition to Disease* / genetics
Middle Aged
Myelin Proteins / genetics
Nervous System Diseases / diagnosis*,  genetics*,  physiopathology
Neural Conduction / physiology
Neurons, Afferent / physiology
Paralysis / genetics*
Reflex, Stretch / physiology
Grant Support
Reg. No./Substance:
0/Myelin Proteins; 0/PMP22 protein, human

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