CNTNAP1-Related Congenital Hypomyelinating Neuropathy

2019 ◽  
Vol 93 ◽  
pp. 43-49 ◽  
Author(s):  
Harry Lesmana ◽  
Marissa Vawter Lee ◽  
Seyed Ali Hosseini ◽  
T. Andrew Burrow ◽  
Barbara Hallinan ◽  
...  
Keyword(s):  
Congenital Hypomyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Attributable to a De Novo p.Asp61Asn Mutation of the Myelin Protein Zero Gene

2013 ◽  
Vol 48 (1) ◽  
pp. 59-62 ◽  
Author(s):  
Takahiro Yonekawa ◽  
Hirofumi Komaki ◽  
Yuko Saito ◽  
Hiroshi Takashima ◽  
Masayuki Sasaki
Keyword(s):  
De Novo ◽  
Myelin Protein ◽  
Myelin Protein Zero ◽  
Protein Zero ◽  
Congenital Hypomyelinating Neuropathy

scholarly journals Structural and Functional Abnormalities of the Neuromuscular Junction in the Trembler-J Homozygote Mouse Model of Congenital Hypomyelinating Neuropathy

2016 ◽  
Vol 75 (4) ◽  
pp. 334-346 ◽  
Author(s):  
Alexandra N. Scurry ◽  
Dante J. Heredia ◽  
Cheng-Yuan Feng ◽  
Gregory B. Gephart ◽  
Grant W. Hennig ◽  
...  
Keyword(s):  
Neuromuscular Junction ◽  
Mouse Model ◽  
Congenital Hypomyelinating Neuropathy

scholarly journals Neuregulin 1 type III reduces severity in a mouse model of Congenital Hypomyelinating Neuropathy

2018 ◽  
Author(s):  
Belin Sophie ◽  
Francesca Ornaghi ◽  
Ghjuvan'Ghjacumu Shackleford ◽  
Jie Wang ◽  
Cristina Scapin ◽  
...  
Keyword(s):  
Mouse Model ◽  
Cell Fate ◽  
Action Potentials ◽  
Sheath Thickness ◽  
Neuregulin 1 ◽  
Type Iii ◽  
Beneficial Effects ◽  
Axonal Protein ◽  
Congenital Hypomyelinating Neuropathy ◽  
Myelin Sheath Thickness

Myelin sheath thickness is precisely regulated and essential for rapid propagation of action potentials along myelinated axons. In the peripheral nervous system, extrinsic signals from the axonal protein neuregulin 1 type III regulate Schwann cell fate and myelination. Here we ask if modulating neuregulin 1 type III levels in neurons would restore myelination in a model of congenital hypomyelinating neuropathy (CHN). Using a mouse model of CHN, we rescued the myelination defects by early overexpression of neuregulin 1 type III. Surprisingly, the rescue was independent from the upregulation of Egr2 or essential myelin genes. Rather, we observed the activation of MAPK/ERK and other myelin genes such as peripheral myelin protein 2 (Pmp2) and oligodendrocyte myelin glycoprotein (Omg). We also confirmed that the permanent activation of MAPK/ERK in Schwann cells has detrimental effects on myelination. Our findings demonstrate that the modulation of axon-to-glial neuregulin 1 type III signaling has beneficial effects and restores myelination defects during development in a model of CHN.

scholarly journals Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

2018 ◽  
Vol 26 (6) ◽  
pp. 796-807 ◽  
Author(s):  
KJ Low ◽  
K Stals ◽  
R Caswell ◽  
M Wakeling ◽  
J Clayton-Smith ◽  
...  
Keyword(s):  
Congenital Hypomyelinating Neuropathy
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