• Corpus ID: 34275869

Charcot-Marie-Tooth disease : CMT 2 , CMT 4 , and others

@inproceedings{Gondim2017CharcotMarieToothD,
  title={Charcot-Marie-Tooth disease : CMT 2 , CMT 4 , and others},
  author={Francisco A. A. Gondim},
  year={2017}
}
By Francisco de Assis Aquino Gondim MD MSc PhD (Dr. Gondim of Universidade de Federal Ceará received travel grants to attend scientific meetings from Biogen, Genzyme, Novartis, Baxter, and Aché Laboratórios.) Florian P Thomas MD MA PhD MS (Dr. Thomas, Director of the Clinical Research Unit, the National MS Society Multiple Sclerosis Center, and the Hereditary Neuropathy Foundation Center of Excellence at St. Louis University, has no relevant financial relationships to disclose.) Originally… 
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Living With Muscular Dystrophy: Sexual Education
TLDR
Key findings were that there is an overarching theme of sexual silence and lack of sex education for people with MD, which can help inform efforts to provide more inclusive education and contribute to social change by showing the importance of the need for more inclusive sexual education.

References

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Charcot-Marie-Tooth disease type 2.
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    Annals of the New York Academy of Sciences
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TLDR
Future work on CMT2 should produce insight not only into the cellular interactions of the peripheral nerve especially Schwann cell and axon relationships, but also into idiopathic neuropathy.
Inflammatory demyelination in a patient with CMT1A
TLDR
Observation that Macrophage‐associated demyelination was observed on the peripheral nerve biopsy supports some experimental data from the literature and shows that there may be a genetic susceptibility to inflammatory Demyelinating processes in certain CMT kindreds.
Characteristics of clinical and electrophysiological pattern of Charcot‐Marie‐Tooth 4C
TLDR
The clinical and paraclinical spectrum of CMT4C can guide the clinician to perform analysis of the SH3TC2 gene, and the hallmark of the electrophysiological study was the presence of probable conduction block and temporal dispersion.
CMT with pyramidal features
TLDR
Two families were identified with an axonal CMT phenotype with distal wasting, weakness, pes cavus, sensory loss, and mild pyramidal signs (including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait).
Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study.
TLDR
A slow deterioration of muscle strength and increase in disability in CMT type 2 during a 5-year follow-up period is shown.
Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17
Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination
Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy
TLDR
The findings provide further insights into the diagnosis and pathology of intermediate CMT and extend the phenotypic spectrum of peripheral neuropathies associated with aminoacyl-tRNA synthetase mutations.
Mechanisms of Disease: a molecular genetic update on hereditary axonal neuropathies
TLDR
The molecular dissection of cellular functions of the related gene products has only just begun, and detailed pathophysiological models are still lacking, but the known CMT2-related genes represent key players in these pathways, and are likely to provide powerful tools for identifying targets for future therapeutic intervention.
Autosomal recessive Charcot‐Marie‐Tooth disease: from genes to phenotypes
TLDR
This review summarizes recent advances regarding the genotypes and corresponding phenotypes of AR‐CMT.
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