Contribution of copy number variations in <scp>CMT</scp>1X: a retrospective study

Capponi, Simona; Geroldi, Alessandro; Pezzini, Ilaria; Gulli, Rossella; Ciotti, Paola; Ursino, Giulia; Lamp, Merit; Reni, Lizia; Schenone, Angelo; Grandis, Marina; Mandich, Paola; Bellone, Emilia

doi:10.1111/ene.12434

Cited by 3 publications

(3 citation statements)

References 11 publications

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“…Interestingly, several variants in the non-coding regions of GJB1 have been demonstrated to cause CMT1X [250][251][252], at least in some cases due to abnormal splicing of GJB1 [253]. Furthermore, copy number variations in GJB1 have also been identified in patients with CMT1X [254,255]. Therefore, care should be taken when interpreting results from commercial genetic testing, as non-coding variants as well as copy number variations may be missed.…”

Section: Connexin 32-associated Neuropathy: Epidemiology and Clinical...mentioning

confidence: 99%

Mechanisms and Treatments in Demyelinating CMT

Fridman

Saporta

2021

Neurotherapeutics

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Demyelinating forms of Charcot-Marie-Tooth disease (CMT) are genetically and phenotypically heterogeneous and result from highly diverse biological mechanisms including gain of function (including dominant negative effects) and loss of function. While no definitive treatment is currently available, rapid advances in defining the pathomechanisms of demyelinating CMT have led to promising pre-clinical studies, as well as emerging clinical trials. Especially promising are the recently completed pre-clinical genetic therapy studies in PMP-22, GJB1, and SH3TC2-associated neuropathies, particularly given the success of similar approaches in humans with spinal muscular atrophy and transthyretin familial polyneuropathy. This article focuses on neuropathies related to mutations in PMP-22, MPZ, and GJB1, which together comprise the most common forms of demyelinating CMT, as well as on select rarer forms for which promising treatment targets have been identified. Clinical characteristics and pathomechanisms are reviewed in detail, with emphasis on therapeutically targetable biological pathways. Also discussed are the challenges facing the CMT research community in its efforts to advance the rapidly evolving biological insights to effective clinical trials. These considerations include the limitations of currently available animal models, the need for personalized medicine approaches/allele-specific interventions for select forms of demyelinating CMT, and the increasing demand for optimal clinical outcome assessments and objective biomarkers.

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Section: Connexin 32-associated Neuropathy: Epidemiology and Clinical...mentioning

confidence: 99%

Mechanisms and Treatments in Demyelinating CMT

Fridman

Saporta

2021

Neurotherapeutics

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“…There is predictably some overlap between neuromuscular disease and neuro‐inflammation . Indeed the role of the immune system in neurological disease, both peripheral and central, is attracting considerable attention.…”

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confidence: 99%

“…There is predictably some overlap between neuromuscular disease [169][170][171][172][173][174][175][176][177][178][179][180][181][182][183][184][185][186] and neuro-inflammation [187][188][189][190][191][192]. Indeed the role of the immune system in neurological disease, both peripheral and central, is attracting considerable attention.…”

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confidence: 99%