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Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients

Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients
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摘要 We used the allele-specific PCR-double digestion method on peripheral myelin protein 22 (PMP22) to determine duplication and deletion mutations in the proband and family members of one family with Charcot-Marie-Tooth disease type 1 and one family with hereditary neuropathy with liability to pressure palsies. The proband and one subclinical family member from the Charcot-Marie-Tooth disease type 1 family had a PMP22 gene duplication; one patient from the hereditary neuropathy with liability to pressure palsies family had a PMP22 gene deletion. Electron microscopic analysis of ultrathin sections of the superficial peroneal nerve from the two probands demonstrated demyelination and myelin sheath hyperplasia, as well as an 'onion-like' structure in the Charcot-Marie-Tooth disease type 1A patient. We observed an irregular thickened myelin sheath and 'mouse-nibbled'-Iike changes in the patient with hereditary neuropathy with liability to pressure palsies. In the Charcot-Marie-Tooth disease type 1A patient, nerve electrophysiological examination revealed moderate-to-severe reductions in the motor and sensory conduction velocities of the bilateral median nerve, ulnar nerve, tibial nerve, and sural nerve. Moreover, the compound muscle action potential amplitude was decreased. In the patient with hereditary neuropathy with liability to pressure palsies, the nerve conduction velocity of the bilateral tibial nerve and sural nerve was moderately reduced, and the nerve conduction velocity of the median nerve and ulnar nerve of both upper extremities was slightly reduced. We used the allele-specific PCR-double digestion method on peripheral myelin protein 22 (PMP22) to determine duplication and deletion mutations in the proband and family members of one family with Charcot-Marie-Tooth disease type 1 and one family with hereditary neuropathy with liability to pressure palsies. The proband and one subclinical family member from the Charcot-Marie-Tooth disease type 1 family had a PMP22 gene duplication; one patient from the hereditary neuropathy with liability to pressure palsies family had a PMP22 gene deletion. Electron microscopic analysis of ultrathin sections of the superficial peroneal nerve from the two probands demonstrated demyelination and myelin sheath hyperplasia, as well as an 'onion-like' structure in the Charcot-Marie-Tooth disease type 1A patient. We observed an irregular thickened myelin sheath and 'mouse-nibbled'-Iike changes in the patient with hereditary neuropathy with liability to pressure palsies. In the Charcot-Marie-Tooth disease type 1A patient, nerve electrophysiological examination revealed moderate-to-severe reductions in the motor and sensory conduction velocities of the bilateral median nerve, ulnar nerve, tibial nerve, and sural nerve. Moreover, the compound muscle action potential amplitude was decreased. In the patient with hereditary neuropathy with liability to pressure palsies, the nerve conduction velocity of the bilateral tibial nerve and sural nerve was moderately reduced, and the nerve conduction velocity of the median nerve and ulnar nerve of both upper extremities was slightly reduced.
出处 《Neural Regeneration Research》 SCIE CAS CSCD 2012年第32期2522-2527,共6页 中国神经再生研究(英文版)
基金 funded by the National Natural Science Foundation of China, grant No. 81071001 and 30600200
关键词 Charcot-Marie-Tooth disease hereditary neuropathy with liability to pressure palsies peripheral myelin protein 22 gene mutation PCR-double digestion method myelin sheath action potentia neuropathology neural regeneration Charcot-Marie-Tooth disease hereditary neuropathy with liability to pressure palsies peripheral myelin protein 22 gene mutation PCR-double digestion method myelin sheath action potentia neuropathology neural regeneration
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  • 1Patzk6 A, Shy ME. Update on Charcot-Marie-Tooth disease. Curr Neurol Neurosci Rep. 2011 ;11 (1):78-88.
  • 2Pareyson D, Scaioli V, Laur M. Clinical and electrophysiological aspects of Charcot-Made-Tooth disease. Neuromolecular Med. 2006;8(1-2):3-22.
  • 3Berger P, Young P, Suter U. Molecular cell biology of Charcot- Marie-Tooth disease. Neurogenetics. 2002;4(1): 1-15.
  • 4De Jonghe P, Timmerman V, Nelis E, et al. Charcot-Marie-Tooth disease and related peripheral neuropathies. J Peripher Nerv Syst. 1997;2(4):370-387.
  • 5Mariman EC, Gabreels-Festen AA, van Beersum SE, et al Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. Ann Neurol. 1994;36(4):650-655.
  • 6Zhang F, Seeman P, Liu P, et al. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet. 2010;86(6):892-903.
  • 7Lopes J, LeGuern E, Gouider R, et al. Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group. Am J Hum Genet. 1996; 58(6): 1223-1230.
  • 8Lin KP, Chou CH, Lee HY, et al. Allele-specific all-or-none PCR product diagnostic strategy for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies. J Chin Med Assoc. 2006;69(2):68-73.
  • 9Snipes G J, Suter U, Welcher AA, et al. Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J Cell Biol. 1992; 117(1 ):225-238.
  • 10Niemann S, Sereda MW, Suter U, et al. Uncoupling of myelin assembly and schwann cell differentiation by transgenic overexpression of peripheral myelin protein 22. J Neurosci. 2000;20(1 ):4120-4128.

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