Molecular basis of axonal dysfunction and traffic impairments in CMT

Gentil, Benoît J.; Cooper, Laura A.

doi:10.1016/j.brainresbull.2012.05.003

Cited by 49 publications

(38 citation statements)

References 177 publications

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“…Both of these neuronal cell types are extremely polarized, axons extending up to 1 m away from their soma to sensory receptors in muscle or skin and to neuromuscular junctions with skeletal muscles [Gentil and Cooper, 2012]. Since the majority of neuronal proteins are synthesized in the cell body, this particular cellular architecture requires intensive transport of proteins between the soma and the axonal extremity.…”

Section: Molecular Pathology Of Cmtsmentioning

confidence: 99%

Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes

Azzedine

Senderek²,

Rivolta³

et al. 2012

Mol Syndromol

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Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders of the peripheral nervous system, mainly characterized by distal muscle weakness and atrophy leading to motor handicap. With an estimated prevalence of 1 in 2,500, this condition is one of the most commonly inherited neurological disorders. Mutations in more than 30 genes affecting glial and/or neuronal functions have been associated with different forms of CMT leading to a substantial improvement in diagnostics of the disease and in the understanding of implicated pathophysiological mechanisms. However, recent data from systematic genetic screening performed in large cohorts of CMT patients indicated that molecular diagnosis could be established only in ∼50–70% of them, suggesting that additional genes are involved in this disease. In addition to providing an overview of genetic and functional data concerning various CMT forms, this review focuses on recent data generated through the use of highly parallel genetic technologies (SNP chips, sequence capture and next-generation DNA sequencing) in CMT families, and the current and future impact of these technologies on gene discovery and diagnostics of CMTs.

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Section: Molecular Pathology Of Cmtsmentioning

confidence: 99%

Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes

Azzedine

Senderek²,

Rivolta³

et al. 2012

Mol Syndromol

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“…As disease progresses there will be demyelination and remyelination due to aberrant proliferation and cell death associated with abnormal remodelling causing Schwann cell onion-bulb formation [12,29]. Over time there is axonal degeneration, neurofilament phosphorylation and increase in neurofilament density resulting in secondary axonal atrophy and loss [25,40].…”

Section: Pathogenesis Of Demyelination Due To Pmp22 Gene Duplicationmentioning

confidence: 99%

“…These studies are mostly in animal models or cultured tissues. The initiating step in all of the above mechanism is a PMP22 toxic gain of function [18][19][20][21]25,27,33,47,49,51,52,65,67]. …”

Section: Diagnostic Featuresmentioning

confidence: 99%

Molecular and clinical features of inherited neuropathies due to PMP22 duplication

Watila

Balarabe²

2015

Journal of the Neurological Sciences

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“…DYNC1H1 est ainsi impliqué chez l'homme dans la survenue de malformations corticales, dans une forme axonale de CMT (CMT 2O) et dans des cas de SMA-LED. Il est intéressant de noter que d'autres gènes intervenant dans le transport rétrograde, tel que ceux codant des kiné-sines, ont déjà été impliqués dans des phénotypes similaires [3,4]. Concernant les modèles animaux, on observe que le knock-out homozygote de DYNC1H1 n'est pas viable chez la souris en raison d'un trouble massif du développement cérébral.…”

Section: Commentaireunclassified

Quand le NGS aide à résoudre une énigme diagnostique

2017

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L'amyotrophie spinale proximale prédominant aux membres inférieurs (ou SMA-LED pour spinal muscular atrophy with lower extremities predominance) est une forme rare de SMA, le plus souvent secondaire à une mutation du gène DYNC1H1. Ce gène code pour les chaines lourdes du complexe dynéine responsable du transport rétrograde de la synapse vers le corps cellulaire neuronal. Le spectre phénotypique des mutations du gène DYNC1H1 est vaste, mais l'association d'une pathologie neurologique périphérique (SMA-LED ou maladie de Charcot Marie Tooth de type 2) à une atteinte neurologique centrale (déficience cognitive avec ou sans malformation corticale) peut guider le clinicien.

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Molecular basis of axonal dysfunction and traffic impairments in CMT

Cited by 49 publications

References 177 publications

Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes

Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes

Molecular and clinical features of inherited neuropathies due to PMP22 duplication

Quand le NGS aide à résoudre une énigme diagnostique

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