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About 223 results

ALLMedicine™ Charcot-Marie-Tooth Disease Type 1a Center

Research & Reviews  81 results

A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropa...
https://doi.org/10.1172/JCI159814
The Journal of Clinical Investigation; Stavrou M, Kagiava A et. al.

May 18th, 2022 - Charcot-Marie-Tooth disease type 1A (CMT1A), the most common inherited demyelinating peripheral neuropathy, is caused by PMP22 gene duplication. Over-expression of wild-type PMP22 in Schwann cells destabilizes the myelin sheath, leading to demyeli...

Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with l...
https://doi.org/10.1016/j.nmd.2022.04.002
Neuromuscular Disorders : NMD; Koike H, Furukawa S et. al.

May 3rd, 2022 - Focal thickening of the myelin sheath, also known as tomacula, is a characteristic pathological feature of patients with hereditary neuropathy with liability to pressure palsies (HNPP). However, a deeper understanding of the pathology underlying u...

SARM1 knockout does not rescue neuromuscular phenotypes in a Charcot-Marie-Tooth diseas...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8940700
Journal of the Peripheral Nervous System : JPNS; Moss KR, Johnson AE et. al.

Feb 10th, 2022 - Charcot-Marie-Tooth disease Type 1A (CMT1A) is caused by duplication of the PMP22 gene and is the most common inherited peripheral neuropathy. Although CMT1A is a dysmyelinating peripheral neuropathy, secondary axon degeneration has been suggested...

Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test
https://clinicaltrials.gov/ct2/show/NCT05142059

Dec 20th, 2021 - Charcot-Marie Tooth disease is the most frequent and common inherited neuropathy with the various forms and subtypes. The CMT-1A is the most frequent form of the disease and represents more than eighty percent of the all subtypes. In view of diffe...

Farnesol Ameliorates Demyelinating Phenotype in a Cellular and Animal Model of Charcot-...
https://doi.org/10.3390/cimb43030138
Current Issues in Molecular Biology; Park NY, Kwak G et. al.

Dec 11th, 2021 - Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous disease affecting the peripheral nervous system that is caused by either the demyelination of Schwann cells or degeneration of the peripheral axon. Currently, there are no treatment ...

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Clinicaltrials.gov  4 results

Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test
https://clinicaltrials.gov/ct2/show/NCT05142059

Dec 20th, 2021 - Charcot-Marie Tooth disease is the most frequent and common inherited neuropathy with the various forms and subtypes. The CMT-1A is the most frequent form of the disease and represents more than eighty percent of the all subtypes. In view of diffe...

Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A
https://clinicaltrials.gov/ct2/show/NCT01750710

Oct 9th, 2019 - Patients suffering from CMT 1A neuropathy will be invited to go through a series of tests such as: Electromyography Isokinetic test Podiatric assessment Functional evaluations: Hand dexterity, limbs muscles strength Quality of life assessment with...

Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A
https://clinicaltrials.gov/ct2/show/NCT02600286

May 25th, 2018 - The disease Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy, for which no treatment has proved its effectiveness. It is autosomal dominant, associated with a duplication of the chromosome 17p11.2 regi...

Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A
https://clinicaltrials.gov/ct2/show/NCT01401257

Nov 22nd, 2017 - In addition to the safety and tolerability of the treatment, clinical, electrophysiological and biological endpoints (PMP22 mRNA, skin biopsy histology and plasma biomarkers) will be assessed. Standard laboratory tests and drug plasma concentratio...

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News  4 results

Next-generation sequencing can shed light on neuropathy etiology
https://www.mdedge.com/internalmedicine/article/210459/neuromuscular-disorders/next-generation-sequencing-can-shed-light?channel=53
Tara Haelle

Oct 20th, 2019 - AUSTIN, TEX. – Patients with peripheral neuropathy may benefit from genetic testing to determine of the cause of their neuropathy even if they do not have a family history of the condition, according to new research.

Next-generation sequencing can shed light on neuropathy etiology
https://www.mdedge.com/neurology/article/210459/neuromuscular-disorders/next-generation-sequencing-can-shed-light
Tara Haelle

Oct 20th, 2019 - AUSTIN, TEX. – Patients with peripheral neuropathy may benefit from genetic testing to determine of the cause of their neuropathy even if they do not have a family history of the condition, according to new research.

Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures
https://www.mdedge.com/surgery/article/105624/rheumatology/phenotype-hnpp-hereditary-neuropathy-liability-pressure-palsies?channel=264
Kramer M, Ly A et. al.

Jan 7th, 2016 - PMP22 is a tetra-span membrane protein primarily expressed in myelinating Schwann cells. Heterozygous deletion of the PMP22 gene (1 copy) causes HNPP (hereditary neuropathy with liability to pressure palsies).

Ascorbic Acid in Charcot-Marie-Tooth-1A
https://www.medscape.com/viewarticle/810638

Sep 16th, 2013 - High-Dosage Ascorbic Acid Treatment in Charcot-Marie-Tooth Disease Type 1A: Results of a Randomized, Double-Masked, Controlled Trial Lewis RA, McDermott MP, Herrmann DN, et al, for the Muscle Study Group JAMA Neurol. 2013;70:981-987 Study Summary ...

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