Linked Life Data

15804150

Source:http://linkedlifedata.com/resource/pubmed/id/15804150

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2005-4-4
pubmed:abstractText
Hereditary neuropathy with liability to pressure palsies (HNPP), an autosomal dominant disorder, is characterized by recurrent isolated nerve palsies, which are precipitated by trivial compression or trauma. In this report, we present the clinical features, electrophysiological studies, nerve biopsy results, and molecular analyses of a Taiwanese family. Among the 7 members evaluated, one latent and three symptomatic patients were found who showed a heterogeneous presentation from asymptomatic to characteristically recurrent peripheral neuropathy. Electrophysiological studies revealed a general decrease in nerve conduction velocities in all four patients with focal conduction slowing, especially at the compression sites. A sural nerve biopsy with a teased fiber preparation in the index patient demonstrated a typical tomaculous appearance. Molecular genetic studies exhibited a deletion of the PMP22 gene in chromosome 17p11.2-12 in all 4 patients. In conclusion, the diagnosis of HNPP might be overlooked if based on clinical presentation only. Family survey and electrophysiological and genetic tests should be done to investigate this disorder.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
2072-0939
pubmed:author
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
56-63
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Hereditary neuropathy with liability to pressure palsies: a clinical and genetic study of a Taiwanese family.
pubmed:affiliation
Department of Neurology, Chang Gung Memorial Hospital, Taipei.
pubmed:publicationType
Journal Article, Case Reports