Charcot-Marie-Tooth Disease Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Foot surgery for adults with Charcot-Marie-Tooth disease
Pract Neurol. 2024 Apr 17:pn-2023-003825. doi: 10.1136/pn-2023-003825. Online ahead of print.ABSTRACTPeople with Charcot-Marie-Tooth (CMT) disease often undergo foot and ankle surgery, as foot deformities are common and cause a degree of functional limitations impairing quality of life. Surgical approaches are variable and there are no evidence-based guidelines. A multidisciplinary approach involving neurology, physical therapy and orthopaedic surgery is ideal to provide guidance on when to refer for surgical opinion and when to intervene. This review outlines the range of foot deformities associated with CMT, their clinic...
Source: Practical Neurology - April 17, 2024 Category: Neurology Authors: Matilde Laur á James Barnett Joanna Benfield Gita M Ramdharry Matthew J Welck Source Type: research

< em > PRPS1 < /em > -associated retinopathy: a diagnostic odyssey
CONCLUSION: The constellation of asymmetric retinopathy and non-congenital hearing impairment should prompt the clinician to search for other diagnoses that may not be covered by an Usher syndrome next generation sequencing panel. Interpretation of genetic testing results should be correlated with a detailed clinical phenotype.PMID:38619019 | DOI:10.1080/13816810.2024.2321871 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 15, 2024 Category: Opthalmology Authors: Tariq A Alzahem Abdulwahab AlTheeb Rola Ba-Abbad Source Type: research

Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination
Sci Adv. 2024 Apr 12;10(15):eadm7600. doi: 10.1126/sciadv.adm7600. Epub 2024 Apr 12.ABSTRACTMyelination is essential for neuronal function and health. In peripheral nerves, >100 causative mutations have been identified that cause Charcot-Marie-Tooth disease, a disorder that can affect myelin sheaths. Among these, a number of mutations are related to essential targets of the posttranslational modification neddylation, although how these lead to myelin defects is unclear. Here, we demonstrate that inhibiting neddylation leads to a notable absence of peripheral myelin and axonal loss both in developing and regenerating mou...
Source: Adv Data - April 12, 2024 Category: Epidemiology Authors: Paula Ayuso-Garc ía Alejandro S ánchez-Rueda Sergio Velasco-Avil és Miguel Tamayo-Caro Aroa Ferrer-Pin ós Cecilia Huarte-Sebastian Vanesa Alvarez Cristina Riobello Selene Jim énez-Vega Izaskun Buendia Jorge Ca ñas-Martin H éctor Fernández-Susavila Source Type: research

Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease
Conclusions The majority of CMT patients is prescribed shoe inserts, orthopaedic shoes and/or AFOs. Although perceived benefits and tolerability are rather good, there is a high rate of complications, potentially inappropriate prescriptions and considerable emotional distress, which reduce the use of AFOs. A rational, patient-oriented and multidisciplinary approach to orthoses prescription must be encouraged. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - April 12, 2024 Category: Neurosurgery Authors: Bertini, A., Manganelli, F., Fabrizi, G. M., Schenone, A., Santoro, L., Cavallaro, T., Tagliapietra, M., Grandis, M., Previtali, S. C., Falzone, Y. M., Allegri, I., Padua, L., Pazzaglia, C., Tramacere, I., Cavalca, E., Saveri, P., Quattrone, A., Valentino Tags: JNNP Patients' choice, Open access Neuromuscular Source Type: research

A missense mutation in human INSC causes peripheral neuropathy
EMBO Mol Med. 2024 Apr 8. doi: 10.1038/s44321-024-00062-w. Online ahead of print.ABSTRACTPAR3/INSC/LGN form an evolutionarily conserved complex required for asymmetric cell division in the developing brain, but its post-developmental function and disease relevance in the peripheral nervous system (PNS) remains unknown. We mapped a new locus for axonal Charcot-Marie-Tooth disease (CMT2) and identified a missense mutation c.209 T > G (p.Met70Arg) in the INSC gene. Modeling the INSCM70R variant in Drosophila, we showed that it caused proprioceptive defects in adult flies, leading to gait defects resembling those in CMT2 pa...
Source: Molecular Medicine - April 8, 2024 Category: Molecular Biology Authors: Jui-Yu Yeh Hua-Chuan Chao Cheng-Li Hong Yu-Chien Hung Fei-Yang Tzou Cheng-Tsung Hsiao Jeng-Lin Li Wen-Jie Chen Cheng-Ta Chou Yu-Shuen Tsai Yi-Chu Liao Yu-Chun Lin Suewei Lin Shu-Yi Huang Marina Kennerson Yi-Chung Lee Chih-Chiang Chan Source Type: research

Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy
In this study, we first showed that human DI-CMTC-causing TyrRSE196K mis-interacts with the extracellular domain of the BDNF receptor TrkB, an aberrant association we have previously characterised for several mutant glycyl-tRNA synthetases linked to CMT type 2D (CMT2D). We then performed temporal neuromuscular assessments of YarsE196K mice modelling DI-CMT. We determined that YarsE196K homozygotes display a selective, age-dependent impairment in in vivo axonal transport of neurotrophin-containing signalling endosomes, phenocopying CMT2D mice. This impairment is replicated by injection of recombinant TyrRSE196K, but not Tyr...
Source: Neurobiology of Disease - April 7, 2024 Category: Neurology Authors: Elena R Rhymes Rebecca L Simkin Ji Qu David Villarroel-Campos Sunaina Surana Yao Tong Ryan Shapiro Robert W Burgess Xiang-Lei Yang Giampietro Schiavo James N Sleigh Source Type: research

Improvement of Charcot-Marie-Tooth Phenotype with a Nanocomplex Treatment in Two Transgenic Models of CMT1A
This study shows that NanoCur shows therapeutic benefits with minimal systemic toxicity, suggesting that it is a potential therapeutic candidate for CMT1A and, possibly, for other neuropathies.PMID:38560579 | PMC:PMC10981932 | DOI:10.34133/bmr.0009 (Source: Cell Research)
Source: Cell Research - April 1, 2024 Category: Cytology Authors: Mohamed El Massry Zeina Msheik Tarek El Masri Gautier Ma Ndong Ntoutoume Laetitia Vignaud Laurence Richard Emilie Pinault Pierre-Antoine Faye Fr édérique Bregier Pierre Marquet Fr édéric Favreau Jean-Michel Vallat Fabrice Billet Vincent Sol Franck Stu Source Type: research

Diagnostic value of lower extremity ultrasonographic nerve enlargement for differentiating demyelinating Charcot-Marie-Tooth disease from chronic inflammatory demyelinating polyneuropathy
We previously reported that nerve enlargement assessment by nerve ultrasonography of the intermediate upper limb is applicable for distinguishing demyelinating Charcot-Marie-Tooth disease (CMT) from chronic inflammatory demyelinating polyneuropathy (CIDP). However, differences in the severity and distribution patterns of lower extremity nerve enlargement have not been established for either disease. Therefore, we examined the utility of lower extremity nerve ultrasonography for differentiating between CMT and CIDP. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - April 1, 2024 Category: Neurology Authors: Hiroyuki Naito, Takamichi Sugimoto, Akemi Hironaka, Masahiro Nakamori, Yu Yamazaki, Kazuhide Ochi, Hirofumi Maruyama Source Type: research

66-Year-Old Woman With Fatigue and Hypotension
A 66-year-old woman presented to the emergency department with progressive fatigue, weakness, diarrhea, and hypotension of 3 weeks ’ duration. Her symptoms had been gradually worsening without any clear inciting event. Her medical history was notable for ileocolonic stricturing Crohn disease treated with ileocecectomy 21 years previously, Charcot-Marie-Tooth disease (CMT), obesity, osteoporosis, depression, and dyslipidemia. Her medications had included alendronate, azathioprine for her Crohn disease, and paroxetine for depression, but she had stopped taking the latter 2 medications when her current symptoms started. (So...
Source: Mayo Clinic Proceedings - March 23, 2024 Category: Internal Medicine Authors: Thomas W. Fredrick, Ruth E. DeFoster Tags: Residents ’ clinic Source Type: research

Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy
Conclusions Our findings suggest that autophagy impairment may serve as a common pathomechanism among different clinical phenotypes caused by TFG mutations. Consequently, targeting autophagy may facilitate the development of a uniform treatment for TFG-related neurological disorders. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - March 21, 2024 Category: Genetics & Stem Cells Authors: Xu, L., Wang, Y., Wang, W., Zhang, R., Zhao, D., Yun, Y., Liu, F., Zhao, Y., Yan, C., Lin, P. Tags: Neurogenetics Source Type: research