Document Detail

Hereditary neuropathy with liability to pressure palsies: electrophysiological and genetic study of a family with carpal tunnel syndrome as only clinical manifestation.
MedLine Citation:
PMID:  12827539     Owner:  NLM     Status:  MEDLINE    
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disease characterized by recurrent sensory or motor manifestations. The molecular basis of HNPP is a deletion on chromosome 17p11.2. We studied a family (father, 61 years; mother, 55 years; 6 children of mean age 25.3 years) showing symptoms of carpal tunnel syndrome in 4 members (the parents and 2 sons). No one of them reported episodes of nerve palsy. In all the patients, except the mother and the younger son, electrophysiologic evaluation showed a sensorimotor polyneuropathy with delayed sensorimotor latencies. Genetic analysis was carried out in the parents and the eldest son. The 17p11.2 deletion was detected in the father and son, indicating paternal transmission of the disease. Clinical manifestations of HNPP may be atypical. Sometimes there is no history of acute nerve palsy, as in this family. For this reason, the frequence of HNPP might be underestimated. Electrophysiological examination is of great importance for the diagnosis of HNPP. Genetic analysis is a rapid and reliable diagnostic tool that can be combined with simplified electrophysiological examination, avoiding the need for nerve biopsy. In conclusion, the diagnosis of HNPP should be invoked in early onset entrapment neuropathies.
R Del Colle; G M Fabrizi; M Turazzini; T Cavallaro; M Silvestri; N Rizzuto
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Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology     Volume:  24     ISSN:  1590-1874     ISO Abbreviation:  Neurol. Sci.     Publication Date:  2003 Jun 
Date Detail:
Created Date:  2003-06-26     Completed Date:  2003-07-31     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  100959175     Medline TA:  Neurol Sci     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  57-60     Citation Subset:  IM    
Department of Neurology, Legnago Hospital, Via Gianella 1, I-37045 Legnago (VR), Italy.
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MeSH Terms
Carpal Tunnel Syndrome / genetics*,  physiopathology
Family Health
Genetics, Medical
Hereditary Sensory and Motor Neuropathy / genetics*,  physiopathology
Middle Aged
Neural Conduction

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