scholarly journals COVID-19-Related Multifocal Demyelinating Neuropathy: Causation or Association

Cureus ◽  
2021 ◽  
Author(s):  
Arunmozhimaran Elavarasi ◽  
Vasantha Padma Srivastava ◽  
Ajay Garg
Keyword(s):  
Demyelinating Neuropathy

scholarly journals A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nozomu Matsuda ◽  
Koushi Ootsuki ◽  
Shunsuke Kobayashi ◽  
Ayaka Nemoto ◽  
Hitoshi Kubo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Neuromuscular Disorders ◽  
Whole Body ◽  
Congenital Hearing Loss ◽  
Severe Phenotype ◽  
Demyelinating Neuropathy ◽  
Magnetic Resonance Neurography ◽  
Peripheral Myelin Protein 22 ◽  
Hypertrophic Neuropathy

Abstract Background Hereditary motor and sensory neuropathy, also referred to as Charcot–Marie–Tooth disease (CMT), is most often caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. This duplication causes CMT type 1A (CMT1A). CMT1A rarely occurs in combination with other hereditary neuromuscular disorders. However, such rare genetic coincidences produce a severe phenotype and have been reported in terms of “double trouble” overlapping syndrome. Waardenburg syndrome (WS) is the most common form of a hereditary syndromic deafness. It is primarily characterized by pigmentation anomalies and classified into four major phenotypes. A mutation in the SRY sex determining region Y-box 10 (SOX10) gene causes WS type 2 or 4 and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, WS, and Hirschsprung disease. We describe a 11-year-old boy with extreme hypertrophic neuropathy because of a combination of CMT1A and WS type 2. This is the first published case on the co-occurrence of CMT1A and WS type 2. Case presentation The 11-year-old boy presented with motor developmental delay and a deterioration in unstable walking at 6 years of age. In addition, he had congenital hearing loss and heterochromia iridis. The neurological examination revealed weakness in the distal limbs with pes cavus. He was diagnosed with CMT1A by the fluorescence in situ hybridization method. His paternal pedigree had a history of CMT1A. However, no family member had congenital hearing loss. His clinical manifestation was apparently severe than those of his relatives with CMT1A. In addition, a whole-body magnetic resonance neurography revealed an extreme enlargement of his systemic cranial and spinal nerves. Subsequently, a genetic analysis revealed a heterozygous frameshift mutation c.876delT (p.F292Lfs*19) in the SOX10 gene. He was eventually diagnosed with WS type 2. Conclusions We described a patient with a genetically confirmed overlapping diagnoses of CMT1A and WS type 2. The double trouble with the genes created a significant impact on the peripheral nerves system. Severe phenotype in the proband can be attributed to the cumulative effect of mutations in both PMP22 and SOX10 genes, responsible for demyelinating neuropathy.

scholarly journals Impaired NDRG1 functions in Schwann cells cause demyelinating neuropathy in a dog model of Charcot-Marie-Tooth type 4D

2021 ◽  
Vol 31 (1) ◽  
pp. 56-68
Author(s):  
Fredrik S. Skedsmo ◽  
Arild Espenes ◽  
Michael A. Tranulis ◽  
Kaspar Matiasek ◽  
Gjermund Gunnes ◽  
...  
Keyword(s):  
Schwann Cells ◽  
Demyelinating Neuropathy ◽  
Charcot Marie Tooth ◽  
Dog Model ◽  
Tooth Type

scholarly journals Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy

2020 ◽  
Vol 29 (8) ◽  
pp. 1253-1273
Author(s):  
Jorge A Pereira ◽  
Joanne Gerber ◽  
Monica Ghidinelli ◽  
Daniel Gerber ◽  
Luigi Tortola ◽  
...  
Keyword(s):  
Mouse Model ◽  
Treatment Strategies ◽  
Underlying Disease ◽  
Potential Treatment ◽  
Type B ◽  
Disease Mechanism ◽  
Demyelinating Neuropathy ◽  
Charcot Marie Tooth ◽  
Dynamin 2

Abstract Some mutations affecting dynamin 2 (DNM2) can cause dominantly inherited Charcot–Marie–Tooth (CMT) neuropathy. Here, we describe the analysis of mice carrying the DNM2 K562E mutation which has been associated with dominant-intermediate CMT type B (CMTDIB). Contrary to our expectations, heterozygous DNM2 K562E mutant mice did not develop definitive signs of an axonal or demyelinating neuropathy. Rather, we found a primary myopathy-like phenotype in these mice. A likely interpretation of these results is that the lack of a neuropathy in this mouse model has allowed the unmasking of a primary myopathy due to the DNM2 K562E mutation which might be overshadowed by the neuropathy in humans. Consequently, we hypothesize that a primary myopathy may also contribute to the disease mechanism in some CMTDIB patients. We propose that these findings should be considered in the evaluation of patients, the determination of the underlying disease processes and the development of tailored potential treatment strategies.

Early paranodal myelin swellings (tomacula) in an avian riboflavin deficiency model of demyelinating neuropathy

2006 ◽  
Vol 198 (1) ◽  
pp. 65-71 ◽  
Author(s):  
Z. Cai ◽  
J.W. Finnie ◽  
P.C. Blumbergs ◽  
J. Manavis ◽  
M.N. Ghabriel ◽  
...  
Keyword(s):  
Demyelinating Neuropathy ◽  
Riboflavin Deficiency

scholarly journals Focal upper limb demyelinating neuropathy

Brain ◽  
1996 ◽  
Vol 119 (3) ◽  
pp. 765-774 ◽  
Author(s):  
P. K. Thomas ◽  
D. Claus ◽  
A. Jaspert ◽  
J. M. Workman ◽  
R. H. M. King ◽  
...  
Keyword(s):  
Upper Limb ◽  
Demyelinating Neuropathy

scholarly journals De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy

2021 ◽  
Vol 108 (1) ◽  
pp. 186-193
Author(s):  
Djurdja Djordjevic ◽  
Maxime Pinard ◽  
Marie-Soleil Gauthier ◽  
Constance Smith-Hicks ◽  
Trevor L. Hoffman ◽  
...  
Keyword(s):  
De Novo ◽  
Demyelinating Neuropathy
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