Demyelinating CMT--what's known, what's new and what's in store?
作者： Kathryn M. Brennan , Yunhong Bai , Michael E. Shy
DOI: 10.1016/J.NEULET.2015.01.059
关键词:
摘要: Abstract Inherited neuropathies known collectively as Charcot–Marie–Tooth disease are one of the most common inherited neurological conditions affecting ∼1 in 2500 people. A heterogenous disorder, CMT is divided into subtypes based on pattern inheritance and also by neurophysiological studies. Despite clinical similarities among patients with demyelinating CMT, it recognized that this group disorders both genetically phenotypically heterogenous. Understanding pathogenesis these requires an intimate knowledge normal myelin development homeostasis. Improvements genetic testing techniques over last 20 years have contributed majorly to identification specific genes, proteins, molecular pathways providing basis for understanding processes developing rational approaches therapy.
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Phillip F. Chance, Mary Kathryn Alderson, Kathleen A. Leppig, M.William Lensch, Norisada Matsunami, Brooke Smith, Phillip D. Swanson, Shannon J. Odelberg, Christine M. Disteche, Thomas D. Bird, DNA deletion associated with hereditary neuropathy with liability to pressure palsies Cell. ,vol. 72, pp. 143- 151 ,(1993) , 10.1016/0092-8674(93)90058-X
Hiromi Yanagisawa, Marie K. Schluterman, Rolf A. Brekken, Fibulin-5, an integrin-binding matricellular protein: its function in development and disease Journal of Cell Communication and Signaling. ,vol. 3, pp. 337- 347 ,(2009) , 10.1007/S12079-009-0065-3
Piotr Topilko, Sylvie Schneider-Maunoury, Giovanni Levi, Anne Baron-Van Evercooren, Amina Ben Younes Chennoufi, Tania Seitanidou, Charles Babinet, Patrick Charnay, Krox-20 controls myelination in the peripheral nervous system. Nature. ,vol. 371, pp. 796- 799 ,(1994) , 10.1038/371796A0
King, Tournev, Colomer, Merlini, Kalaydjieva, Thomas, Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom. Neuropathology and Applied Neurobiology. ,vol. 25, pp. 306- 312 ,(1999) , 10.1046/J.1365-2990.1999.00174.X
G Nicholson, A Corbett, Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses. Journal of Neurology, Neurosurgery, and Psychiatry. ,vol. 61, pp. 43- 46 ,(1996) , 10.1136/JNNP.61.1.43
John Svaren, Bradley R Sevetson, Thomas Golda, Jeffrey J Stanton, Alex H Swirnoff, Jeffrey Milbrandt, Novel mutants of NAB corepressors enhance activation by Egr transactivators The EMBO Journal. ,vol. 17, pp. 6010- 6019 ,(1998) , 10.1093/EMBOJ/17.20.6010
R Gooding, J Colomer, R King, Dora Angelicheva, L Marns, Y Parman, David Chandler, J Bertranpetit, Luba Kalaydjieva, A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes Journal of Medical Genetics. ,vol. 42, pp. 1- 8 ,(2005) , 10.1136/JMG.2005.034132
Kazuho Hirata, Masaru Kawabuchi, Myelin phagocytosis by macrophages and nonmacrophages during Wallerian degeneration. Microscopy Research and Technique. ,vol. 57, pp. 541- 547 ,(2002) , 10.1002/JEMT.10108
E. A. Jones, C. Lopez-Anido, R. Srinivasan, C. Krueger, L.-W. Chang, R. Nagarajan, J. Svaren, Regulation of the PMP22 gene through an intronic enhancer The Journal of Neuroscience. ,vol. 31, pp. 4242- 4250 ,(2011) , 10.1523/JNEUROSCI.5893-10.2011
A. E. HARDING, P. K. THOMAS, THE CLINICAL FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPES I AND II Brain. ,vol. 103, pp. 259- 280 ,(1980) , 10.1093/BRAIN/103.2.259