Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0152025 (polyneuropathy)
 7,862 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fourteen patients presented prolonged conduction block (CB) related to hereditary neuropathy with liability to pressure palsies (n = 7), neuropathy with proximal multifocal persistent CB (n = 2), radiation plexopathy (n = 3) and chronic acquired polyneuropathy (n = 2). All subjects presented both single and grouped fasciculation potentials that resulted in visible limb myokymia in 9 patients. This ectopic activity was recorded only in muscles affected by the CB, was more important in severe or complete CB, and often arose from terminal branches of blocked axons. These fasciculations and grouped fasciculations therefore appear to be causally related to the CB. In the presence of localized myokymia, a prolonged CB should be suspected.
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PMID:Neuropathies with prolonged conduction block, single and grouped fasciculations, localized limb myokymia. 244 11

The paper describes a so far unreported combination of Dandy-Walker syndrome and chronic hereditary polyneuropathy in 2 boys. One of the boys has a de- and remyelinating motor and sensory polyneuropathy, with either an autosomal recessive mode of inheritence or a sporadic occurrence. The other has an autosomal dominant form of mild polyneuropathy with tomaculum formations in myelinated fibers, corresponding to hereditary neuropathy with liability to pressure palsies.
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PMID:Two cases of Dandy-Walker syndrome and chronic polyneuropathy. 248 13

Slow nerve conduction velocities, temporal dispersion of action potentials and conduction block occur in polyneuropathies with segmental demyelination. Conduction block has been reported in focal compressive neuropathies and in acute and chronic autoimmune polyneuropathy but not in hereditary motor and sensory demyelinating neuropathy. We report conduction block in five nerves of four patients from two families with a hereditary neuropathy with susceptibility to pressure palsies and pathologic changes of segmental demyelination and tomaculous swellings. Conduction block that may be long lasting is a feature of this type of hereditary neuropathy, which should be considered in the differential diagnosis of this electrophysiologic finding.
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PMID:Conduction block in hereditary neuropathy with susceptibility to pressure palsies. 347 93

We describe three patients affected by a congenital motor and sensory neuropathy with excessive myelin outfoldings (MOs) [15]. Clinical and electrophysiological features supported the diagnosis of hereditary motor and sensory neuropathy. We previously reported a genetic study on these three patients, which failed to demonstrate either the duplication in chromosome 17p11.2 or the mutations at exons 1 and 2 of the peripheral myelin protein gene (PMP-22) and suggested an autosomal recessive (AR) inheritance. In this study we described the absence of the most common mutations, which characterized other forms of hereditary motor and sensory neuropathy (HMSN). In particular the absence of molecular changes in the PMP-22 gene definitively sets HMSN with MOs apart from the more common CMT1A, hereditary neuropathy with liability to pressure palsies (HNPP) and progressive sensory-motor polyneuropathy with tomaculous changes at sural nerve biopsy.
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PMID:Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding. 747 98

We measured residual latency (RL), motor conduction velocity (MCV), and terminal latency index (TLI) in 15 patients with neuropathy and anti-MAG or SGPG antibodies and compared these to values obtained in 103 patients with other types of polyneuropathy (PN) and to 57 normal subjects. Ten patients had anti-MAG antibody titers of 25,600 or higher, and 5 had titers between 800 and 12,600. Patients with the highest titers had longer RL, slower MCV and shorter TLI than those with lower titers, acute or chronic inflammatory demyelinating PN, hereditary neuropathy, and metabolic or axonal neuropathy. In contrast F-wave latencies did not contribute to the differentiation between the groups of demyelinating neuropathies. RL and TLI correlated best with anti-MAG antibody titers, whereas there was a poor correlation with anti-SGPG titers suggesting that MAG more than SGPG may be the antigen in PN, and that the distal nerves are affected more than their proximal segments. The RL rather than TLI turned out to be the best variable to classify the demyelinating type of anti-MAG neuropathy. Sural nerve biopsy in 5 of the patients with the highest titer of anti-MAG antibodies showed deposits of IgM and C3 on the myelin sheaths, pronounced demyelination and widening of the myelin lamellae. In 4 of the patients with lower titers demyelination was absent or less pronounced.
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PMID:Motor conduction parameters in neuropathies associated with anti-MAG antibodies and other types of demyelinating and axonal neuropathies. 754 Feb 58

We examined for the presence of 17p11.2 deletion, by Southern blotting and fluorescent in situ hybridization, 3 cases with progressive sensory-motor polyneuropathy and diffuse tomaculous changes at sural nerve biopsy. We demonstrated in all the cases the 17p11.2 deletion, previously reported in hereditary neuropathy with pressure palsy, an inherited disorder of the peripheral nervous system with similar pathologic changes but a different clinical phenotype. The molecular study of the 17p11.2 region should be considered as a non invasive method for differential diagnosis in selected cases of progressive polyneuropathy.
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PMID:Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. 756 44

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder with an increased susceptibility of peripheral nerves to mechanical lesions resulting in transient nerve palsies. Many carriers remain asymptomatic but can be traced by electrophysiological examination, thereby demonstrating that HNPP is a generalised polyneuropathy. By using highly polymorphic markers linkage analysis was performed in a large family with HNPP. This resulted in a maximum lod score of 4.20 at theta = 0.10 with D17S520. Three-point linkage suggests that the gene for HNPP is located on chromosome 17 in the region between D17S250 (q11.2-q12) and D17S520 (p12), a region that has recently been shown to encompass a locus for another hereditary neuropathy, hereditary motor and sensory neuropathy type 1 (HMSN type 1). This raises the possibility that HNPP and this form of HMSN type 1 are allelic. In keeping with this speculation is our recent finding that D17S122, another marker from the HMSN type 1 region, displays apparent loss of heterozygosity in this family.
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PMID:Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1. 839 68

We describe pulsed-field gel electrophoresis (PFGE) analysis of 10 unrelated Italian families and seven isolated cases with hereditary neuropathy with liability to pressure palsies (HNPP). Our sample includes patients with different clinical features, varying from classical liability to pressure palsies to ingravescent polyneuropathy. The frequency and the uniformity in size of the 17p11.2 deletion was evaluated by using cosH1 probe from the Charcot-Marie-Tooth neuropathy type 1A (CMT1A)-REP region. The presence of the deletion was demonstrated in all our patients; furthermore, the deletion was of identical size, although our patients had different clinical features. Molecular analysis of the 17p11.2 region by PFGE method proved to be a reliable and non-invasive method of diagnosis in HNPP cases both familial and isolated.
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PMID:Use of cosH1 probe in hereditary neuropathy with liability to pressure palsies: a reliable genetic test for demonstration of identical size of 17p11.2 deletion in unrelated patients. 884 15

We report two patients with suspected hereditary liability to pressure palsies. Neurophysiological studies showed a mixed axonal-demyelinating sensory-motor polyneuropathy with focal slowing of conduction velocities at the common sites of entrapment. Morphological studies on sural nerve biopsy from the proband showed active axonal regeneration without typical tomacula. Molecular analysis confirmed the presence of a deletion of chromosome 17p11.2 in both patients. Our observation confirms the heterogeneity of hereditary liability to pressure palsies and the relevance of DNA testing for the diagnosis of this hereditary neuropathy.
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PMID:Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis. 939 80

There have been major advances in the understanding of the genetically determined neuropathies in recent years. The underlying genetic defects are now known for many of the demyelinating hereditary motor and sensory neuropathies, and linkage data are available for some of the axonal hereditary motor and sensory neuropathies. This has important implications for both diagnosis and genetic counselling in this group of conditions. The genetic defect in most cases of familial amyloid polyneuropathy is also now known. In the most common form of familial amyloid polyneuropathy (FAP), transthyretin-related FAP, liver transplantation has been established as the first definitive treatment for a hereditary neuropathy and should be considered especially in young adult patients. This review will concentrate on the advances in the molecular genetics of the hereditary motor and sensory neuropathies, the hereditary sensory and autonomic neuropathies and the familial amyloid polyneuropathies with particular emphasis on the difficulties in classifying the first group.
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PMID:Genetically determined neuropathies. 945 22


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