Literature DB >> 10762521

Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.

D Pareyson1, F Taroni, S Botti, M Morbin, S Baratta, G Lauria, C Ciano, A Sghirlanzoni.   

Abstract

Mutations in the gene coding for the Schwann cell transcription factor early growth response 2 (EGR2), which seems to regulate myelinogenesis and hindbrain development, have been observed in few cases of inherited neuropathy. The authors describe a unique combination of cranial nerve deficits in one member of a Charcot-Marie-Tooth 1 family carrying an EGR2 mutation (Arg381His). This finding further supports the role of EGR2 in cranial nerve development.

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Year:  2000        PMID： 10762521     DOI： 10.1212/wnl.54.8.1696

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  21 in total

1.  Locus-wide identification of Egr2/Krox20 regulatory targets in myelin genes.

Authors:  Sung-Wook Jang; Rajini Srinivasan; Erin A Jones; Guannan Sun; Sunduz Keles; Courtney Krueger; Li-Wei Chang; Rakesh Nagarajan; John Svaren
Journal:  J Neurochem       Date:  2010-11-04       Impact factor: 5.372

2.  Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.

Authors:  Joseph B Nadol; E Tessa Hedley-Whyte; Sami Samir Amr; Jennifer T O Apos Malley; Takefumi Kamakura
Journal:  Audiol Neurootol       Date:  2019-01-24       Impact factor: 1.854

Review 3.  Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.

Authors:  D Pareyson; V Scaioli; M Laurà
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

Review 4.  Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.

Authors:  Henry Houlden; Mary M Reilly
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

5.  Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

Authors:  Magdalena Zimoń; Jonathan Baets; Michaela Auer-Grumbach; José Berciano; Antonio Garcia; Eduardo Lopez-Laso; Luciano Merlini; David Hilton-Jones; Meriel McEntagart; Andrew H Crosby; Nina Barisic; Eugen Boltshauser; Christopher E Shaw; Guida Landouré; Christy L Ludlow; Rachelle Gaudet; Henry Houlden; Mary M Reilly; Kenneth H Fischbeck; Charlotte J Sumner; Vincent Timmerman; Albena Jordanova; Peter De Jonghe
Journal:  Brain       Date:  2010-05-11       Impact factor: 13.501

6.  Neuropathy-associated Egr2 mutants disrupt cooperative activation of myelin protein zero by Egr2 and Sox10.

Authors:  Scott E LeBlanc; Rebecca M Ward; John Svaren
Journal:  Mol Cell Biol       Date:  2007-02-26       Impact factor: 4.272

7.  Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.

Authors:  Kinga Szigeti; Wojciech Wiszniewski; Gulam Mustafa Saifi; Diane L Sherman; Norbert Sule; Adekunle M Adesina; Pedro Mancias; Sozos Ch Papasozomenos; Geoffrey Miller; Laura Keppen; Donna Daentl; Peter J Brophy; James R Lupski
Journal:  Neurogenetics       Date:  2007-08-24       Impact factor: 2.660

8.  Progesterone derivatives increase expression of Krox-20 and Sox-10 in rat Schwann cells.

Authors:  Valerio Magnaghi; Marinella Ballabio; Ilaria Roglio; Roberto C Melcangi
Journal:  J Mol Neurosci       Date:  2007       Impact factor: 3.444

9.  Disruption of Krox20-Nab interaction in the mouse leads to peripheral neuropathy with biphasic evolution.

Authors:  Anne Desmazières; Laurence Decker; Jean-Michel Vallat; Patrick Charnay; Pascale Gilardi-Hebenstreit
Journal:  J Neurosci       Date:  2008-06-04       Impact factor: 6.167

10.  Interactions of Sox10 and Egr2 in myelin gene regulation.

Authors:  Erin A Jones; Sung-Wook Jang; Gennifer M Mager; Li-Wei Chang; Rajini Srinivasan; Nolan G Gokey; Rebecca M Ward; Rakesh Nagarajan; John Svaren
Journal:  Neuron Glia Biol       Date:  2007-11
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