Demyelination as an Early Pathophysiological Feature in CMT4J (P05.157)

Yan, Qing; Martyn, Colin; Miller, Laurence; Shy, Michael E.; Li, Jun

doi:10.1212/wnl.78.1_meetingabstracts.p05.157

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2020

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“…CMT4J is a highly variable recessive CMT with both axonal and demyelinating defects (Nicholson et al, 2011;Yan et al, 2012). Patient mutations are typically compound heterozygous carrying one null allele and one mutant allele (Chow et al, 2007;Nicholson et al, 2011).…”

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confidence: 99%

Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases

et al. 2020

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Charcot-Marie-Tooth (CMT) disease is a progressive and heterogeneous inherited peripheral neuropathy. A myriad of genetic factors have been identified that contribute to the degeneration of motor and sensory axons in a length-dependent manner. Emerging biological themes underlying disease include defects in axonal trafficking, dysfunction in RNA metabolism and protein homeostasis, as well deficits in the cellular stress response. Moreover, genetic contributions to CMT can have overlap with other neuropathies, motor neuron diseases (MNDs) and neurodegenerative disorders. Recent progress in understanding the molecular biology of CMT and overlapping syndromes aids in the search for necessary therapeutic targets.

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