Disease relevance of Paralysis

• Hereditary demyelinating peripheral neuropathies consist of a heterogeneous group of genetic disorders that includes hereditary neuropathy with liability to pressure palsies (HNPP), Charcot-Marie-Tooth disease (CMT), Dejerine-Sottas syndrome (DSS), and congenital hypomyelination (CH) [1].
• Bone metastases reproducibly developed in nude rats after an injection of LOX human malignant melanoma cells into the left ventricle, with hind leg paralyses appearing in all animals within approximately 2 weeks [2].
• The CMT1A-REPs are two large directly repeating DNA sequences located on chromosome 17p11.2-p12 flanking the region duplicated in patients with Charcot-Marie-Tooth disease type 1A (CMT1A) and deleted in patients with hereditary neuropathy with liability to pressure palsies (HNPP) [3].
• The other patient had multiple cranial nerve palsies and unilateral optic neuropathy with normal CSF [4].
• The G94fsX222 is associated with hereditary neuropathy with liability to pressure palsies, whereas G94fsX110 causes severe neuropathy diagnosed as Dejerine-Sottas disease or Charcot-Marie-Tooth disease type IA [5].

Psychiatry related information on Paralysis

• The manifestations of CsA-related central neurotoxicity include confusion, aphasia, dystonias, akinetic mutism, parkinsonism, palsies, seizures, catatonia, coma, brain hemorrhage, and cortical blindness [6].

High impact information on Paralysis

• Mice carrying one functional copy of Pmp22 are less affected but they also exhibit focal tomacula comparable to the morphological features in hereditary neuropathy with liability to pressure palsies (HNPP) [7].
• Deletion of a similar 1.5-Mb region is associated with hereditary neuropathy with liability to pressure palsies (HNPP), a clinically distinct neuropathy [8].
• Erb's C V, VI palsies have improved function with cuff transfers and elbow flexor plasties [9].
• Most important, even when the treatment was delayed until the disease symptoms were fully established, soluble CD83 clearly reduced the paralyses [10].
• Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis [11].

Chemical compound and disease context of Paralysis

• Effects of edrophonium on saccadic velocity in normal subjects and myasthenic and nonmyasthenic ocular palsies [12].
• Nine of 13 patients with preganglionic 3rd nerve palsies showed supersensitive pupillary responses using pilocarpine 0.1% [13].
• In superior oblique palsies, the superior oblique was found to be stiff after elongation and before injection of succinylcholine, and it did not contract after injection of succinylcholine [14].
• The effects of lidocaine were inferior to fentanyl due to the associated motor and sensory paralyses as well as the absence of euphoria [15].
• We saw a patient with MEO and multiple cranial nerve palsies who recovered following an extended course of gentamicin sulfate and carbenicillin disodium therapy [16].

Biological context of Paralysis

• PMP22 frameshift mutation and hereditary neuropathy with liability to pressure palsies [17].
• CONCLUSION: Molecular genetic testing for hereditary neuropathy with liability to pressure palsies in patients with idiopathic carpal tunnel syndrome is of limited value [18].
• A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies [19].
• Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland [20].
• Point mutations of PMP22 causing an hereditary neuropathy with liability to pressure palsies phenotype are rare [19].

Anatomical context of Paralysis

• All but 1 had reoperations for persistent or recurrent hyperparathyroidism (3 vocal cord paralyses and 1 hypoparathyroidism requiring autotransplantation of cryopreserved parathyroid tissue) [21].
• Peripheral myelin protein PMP22 deficiency is associated with hereditary neuropathy with liability to pressure palsies (HNPP) [22].
• In situ hybridisation for common viruses in nerve tissue and genetic testing for a hereditary tendency to pressure palsies (HNPP; tomaculous neuropathy) were undertaken [23].
• Fourth cranial nerve palsies and manifest strabismus tended to cluster within single family units [24].
• Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene [25].

Gene context of Paralysis

• Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder that results in a recurrent, episodic demyelinating neuropathy [26].
• Deletion of the same region is associated with a second inherited neural disorder, the hereditary neuropathy with liability to pressure palsies (HNPP) [27].
• In particular, the molecular mechanisms underlying the autosomal dominantly inherited disorders Charcot-Marie-Tooth disease type 1A (CMT1A), Charcot-Marie-Tooth disease type 1B (CMT1B), and hereditary neuropathy with liability to pressure palsies (HNPP) have been determined [28].
• All patients having the CMT phenotype and intermediate conduction velocities who are negative for CMT1A duplication/hereditary neuropathy with liability to pressure palsies (HNPP) deletion, and whose family shows a dominant trait without male-to-male transmission, should be screened for CMTX1 [29].
• Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies [30].

Analytical, diagnostic and therapeutic context of Paralysis

• Forty-four patients with diplopia caused by myasthenia gravis, ocular myopathies, and ocular motor nerve palsies underwent complete orthoptic evaluations before and after intramuscular injection of neostigmine (Prostigmin) methylsulfate [31].
• An epidemiological study of hereditary neuropathy with liability to pressure palsies (HNPP) was carried out in south western Finland, with a population of 435,000 [20].
• 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) [32].
• At reoperation, permanent hypoparathyroidism that required parathyroid autotransplantation of cryopreserved tissue developed in two patients and two patients had recurrent laryngeal nerve palsies [33].
• This study examined major histocompatibility complex (MHC) class II expression and macrophage infiltration in sural nerve biopsies from patients with genetically proven Charcot-Marie-Tooth (CMT) 1A and 1B and hereditary neuropathy with liability to pressure palsies (HNPP) by immunocytochemistry [34].

References