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.

The contribution and therapeutic implications of IGHMBP2 mutations on IGHMBP2 biochemical activity and ABT1 association
Biochim Biophys Acta Mol Basis Dis. 2024 Feb 23:167091. doi: 10.1016/j.bbadis.2024.167091. Online ahead of print.ABSTRACTMutations within immunoglobulin mu DNA binding protein (IGHMBP2), an RNA-DNA helicase, result in SMA with respiratory distress type I (SMARD1) and Charcot Marie Tooth type 2S (CMT2S). The underlying biochemical mechanism of IGHMBP2 is unknown as well as the functional significance of IGHMBP2 mutations in disease severity. Here we report the biochemical mechanisms of IGHMBP2 disease-causing mutations D565N and H924Y, and their potential impact on therapeutic strategies. The IGHMBP2-D565N mutation has been...
Source: Biochimica et Biophysica Acta - February 25, 2024 Category: Biochemistry Authors: Gangadhar P Vadla Kamal Singh Christian L Lorson Monique A Lorson Source Type: research

Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases
EMBO Mol Med. 2024 Feb 21. doi: 10.1038/s44321-023-00019-5. Online ahead of print.ABSTRACTHaplo-insufficiency of the gene encoding the myelin protein PMP22 leads to focal myelin overgrowth in the peripheral nervous system and hereditary neuropathy with liability to pressure palsies (HNPP). Conversely, duplication of PMP22 causes Charcot-Marie-Tooth disease type 1A (CMT1A), characterized by hypomyelination of medium to large caliber axons. The molecular mechanisms of abnormal myelin growth regulation by PMP22 have remained obscure. Here, we show in rodent models of HNPP and CMT1A that the PI3K/Akt/mTOR-pathway inhibiting ph...
Source: Molecular Medicine - February 21, 2024 Category: Molecular Biology Authors: Doris Krauter Daniela Stausberg Timon J Hartmann Stefan Volkmann Theresa Kungl David A Rasche Gesine Saher Robert Fledrich Ruth M Stassart Klaus-Armin Nave Sandra Goebbels David Ewers Michael W Sereda Source Type: research

Cochlear Implantation in Charcot-Marie-Tooth Patients: Speech Perception and Quality of Life
CONCLUSION: To the best of our knowledge, this is the most extensive series of CI in CMT-associated sensorineural hearing loss and auditory neuropathy. Our cohort suggests that CI is a safe and reliable method for hearing rehabilitation that can achieve good speech performance and improve QoL in CMT patients.PMID:38361273 | DOI:10.1177/00034894241232206 (Source: The Annals of Otology, Rhinology, and Laryngology)
Source: The Annals of Otology, Rhinology, and Laryngology - February 16, 2024 Category: ENT & OMF Authors: Nicole I Farber Oliver Y Chin Dawna M Mills Rodney C Diaz Hilary A Brodie Doron Sagiv Source Type: research

Early onset inherited peripheral neuropathies: the experience of a specialized referral center for genetic diagnosis achievement.
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited peripheral neuropathies. While the typical disease onset is reported in the second decade, earlier onsets are not uncommon. To date, few studies on pediatric populations have been conducted and the achievement of molecular diagnosis remains challenging. (Source: Pediatric Neurology)
Source: Pediatric Neurology - February 9, 2024 Category: Neurology Authors: Alessandro Geroldi, Clarissa Ponti, Alessia Mammi, Serena Patrone, Fabio Gotta, Lucia Trevisan, Francesca Sanguineri, Paola Origone, Andrea Gaudio, Andrea La Barbera, Matteo Cataldi, Chiara Gemelli, Sara Massucco, Angelo Schenone, Paola Lanteri, Chiara Fi Tags: Short Communication Source Type: research

GSE235918 Morc2a variants cause hydroxyl radical-mediated neuropathy and are rescued by GHKL ATPase gene therapy
This study revealed that Morc2a p.S87L caused a protein synthesis defect, resulting in the loss of function of Morc2a and weakening its function of maintaining DNA integrity and hydroxyl radical scavenging in the GHKL ATPase domain. Morc2a GHKL ATPase domain was considered a therapeutic target based on its function of simultaneously complementing hydroxyl radical scavenging and ATPase activity. Adeno-associated virus PHP.eB serotype that has high central nervous system transduction efficiency was applied to express Morc2a or Morc2a GHKL ATPase domain protein in vivo. AAV gene therapy improved neuropathy and muscular dysfun...
Source: GEO: Gene Expression Omnibus - February 6, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research

Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3
ConclusionsWe report an autosomal dominant adult-onset distal hereditary motor neuronopathy with incomplete penetrance in women as a new phenotype related to a truncating variant in theBAG3 gene. Our findings expand the phenotypic spectrum ofBAG3-related disorders, which previously included dilated cardiomyopathy, myofibrillar myopathy and adult-onset Charcot-Marie-Tooth type 2 neuropathy. Variants inBAG3 should be considered in the differential diagnosis of distal hereditary motor neuronopathies. (Source: Journal of Neurology)
Source: Journal of Neurology - January 31, 2024 Category: Neurology Source Type: research

Quantified fat fraction as biomarker assessing disease severity in rare Charcot –Marie–Tooth subtypes
DiscussionMulti-echo Dixon MRI imaging is a valuable tool for assessing disease severity in CMT. The difference in patterns of fatty infiltration of CMT subtypes is first reported, which could provide references when making targeted training plans. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - January 29, 2024 Category: Neurology Source Type: research

Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound
ConclusionsPeripheral neuropathy in ARSACS showed primarily demyelinating rather than axonal characteristics and presented without nerve enlargement. As demyelinating neuropathies do commonly present enlarged nerves we recommend further genetic testing of the SACS gene in patients who present with this combination of demyelinating neuropathy without nerve enlargement. ARSACS cases that initially presented only with neuropathy without spasticity or ataxia and therefore were misdiagnosed as Charcot-Marie-Tooth disease are supporting this suggestion. (Source: Journal of Neurology)
Source: Journal of Neurology - January 23, 2024 Category: Neurology Source Type: research

Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum
CONCLUSIONS: These findings expand the phenotypic and genetic spectrum of CMTX1. Although CMTX1 was found to have high phenotypic and CNS involvement variabilities, detailed neurological examinations and nerve conduction studies will provide critical clues for accurate diagnoses. Further exploration of the underlying mechanisms of connexin 32 involvement in neuropathy or CNS dysfunction is warranted to develop promising therapies.PMID:38179633 | DOI:10.3988/jcn.2023.0104 (Source: Journal of Clinical Neurology)
Source: Journal of Clinical Neurology - January 5, 2024 Category: Neurology Authors: Feixia Zhan Wotu Tian Yuwen Cao Jingying Wu Ruilong Ni Taotao Liu Yun Yuan Xinghua Luan Li Cao Source Type: research