scholarly journals MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot–Marie–Tooth disease type 1B

Brain ◽  
2012 ◽  
Vol 135 (7) ◽  
pp. 2032-2047 ◽  
Author(s):  
Mario A. C. Saporta ◽  
Brian R. Shy ◽  
Agnes Patzko ◽  
Yunhong Bai ◽  
Maria Pennuto ◽  
...  
Keyword(s):  
Schwann Cell ◽  
Mouse Model ◽  
Early Onset ◽  
Cell Development ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Schwann Cell Development ◽  
Tooth Disease

scholarly journals AAV9-mediated FIG4 delivery prolongs life span in Charcot Marie Tooth disease type 4J mouse model.

2021 ◽  
Author(s):  
Maximiliano Presa ◽  
Rachel M. Bailey ◽  
Crystal Davis ◽  
Tara Murphy ◽  
Jenn Cook ◽  
...  
Keyword(s):  
Mouse Model ◽  
Life Span ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Expression profiling of sciatic nerve in a Charcot-Marie-Tooth disease type 1a mouse model

2005 ◽  
Vol 79 (6) ◽  
pp. 825-835 ◽  
Author(s):  
Anneloor L.M.A. ten Asbroek ◽  
Camiel Verhamme ◽  
Marjon van Groenigen ◽  
Ruud Wolterman ◽  
Maryla M. de Kok-Nazaruk ◽  
...  
Keyword(s):  
Sciatic Nerve ◽  
Mouse Model ◽  
Expression Profiling ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Nonmyelinating Schwann Cell Involvement With Well-Preserved Unmyelinated Axons in Charcot-Marie-Tooth Disease Type 1A

2007 ◽  
Vol 66 (11) ◽  
pp. 1027-1036 ◽  
Author(s):  
Haruki Koike ◽  
Masahiro Iijima ◽  
Keiko Mori ◽  
Masahiko Yamamoto ◽  
Naoki Hattori ◽  
...  
Keyword(s):  
Schwann Cell ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Unmyelinated Axons ◽  
Tooth Disease

scholarly journals Short hairpin RNA treatment improves gait in a mouse model of Charcot‑Marie‑Tooth disease type 1A

2020 ◽  
Vol 22 (6) ◽  
pp. 4947-4955
Author(s):  
Hyun Doo ◽  
Young Hong ◽  
Jiyou Han ◽  
Hyo Moon ◽  
Hyun Hwang ◽  
...  
Keyword(s):  
Mouse Model ◽  
Short Hairpin Rna ◽  
Disease Type ◽  
Hairpin Rna ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Short Hairpin ◽  
Tooth Disease

MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012266
Author(s):  
Hongge Wang ◽  
Matthew Davison ◽  
Kathryn Wang ◽  
Tai-he Xia ◽  
Katherine M. Call ◽  
...  
Keyword(s):  
Schwann Cell ◽  
Schwann Cells ◽  
Motor Nerve ◽  
Disease Type ◽  
Class Iii ◽  
Protein Biomarkers ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Compound Muscle Action Potentials ◽  
Tooth Disease

Objective:To determine if microRNA’s (miR) are elevated in the plasma of individuals affected by the inherited peripheral neuropathy Charcot-Marie-Tooth Disease, type 1A (CMT1A), miR profiling was employed to compare control and CMT1A plasma.Methods:We performed a screen of CMT1A and control plasma samples to identify miRs that are elevated in CMT1A using next generation sequencing, followed by validation of selected miRs by quantitative PCR, and correlation with protein biomarkers and clinical data: Rash-modified CMT Examination and Neuropathy Scores (CMTES-R and CMTNS-R), ulnar compound muscle action potentials (CMAP), and motor nerve conduction velocities (MNCV).Results:After an initial pilot screen, a broader screen confirmed elevated levels of several muscle-associated miRNAs (miR1, -133a, -133b, and -206, known as myomiRs) along with a set of miRs that are highly expressed in Schwann cells of peripheral nerve. Comparison to other candidate biomarkers for CMT1A (e.g. Neurofilament L, NfL) measured on the same sample set shows a comparable elevation of several miRs (e.g. miR133a, -206, -223) and ability to discriminate cases from controls. NfL levels were most highly correlated with miR133a. In addition, the putative Schwann cell miRs (e.g. miR223, -199a, -328, -409, and -431) correlate with the recently described TMPRSS5 protein biomarker that is most highly expressed in Schwann cells and also elevated in CMT1A plasma.Conclusions:These studies identify a set of miRs that are candidate biomarkers for clinical trials in CMT1A. Some of the miRs may reflect Schwann cell processes that underlie the pathogenesis of the disease.Classification of Evidence:This study provides Class III evidence that a set of plasma miRs are elevated in patients with CMT1A.

Fifteen-year longitudinal follow-up of a patient with severe early-onset Charcot-Marie-Tooth disease type 2A

2018 ◽  
Vol 57 (5) ◽  
pp. E126-E128
Author(s):  
Brett A. McCray ◽  
William Hurst ◽  
Thomas O. Crawford ◽  
Thomas E. Lloyd
Keyword(s):  
Early Onset ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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