Original article Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome

Potulska‐Chromik, Anna; Sinkiewicz–Darol, Elena; Kostera‐Pruszczyk, Anna; Drac, Hanna; Kabzińska, Dagmara; Zakrzewska-Pniewska, Beata; Gołębiowski, Marek; Kochański, Andrzej

doi:10.5114/fn.2012.32366

Cited by 4 publications

(4 citation statements)

References 18 publications

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“…Charcot–Marie–Tooth disease type 1C (CMT1C) is a rare, dominantly inherited neuropathy caused by mutations in the lipopolysaccharide‐induced tumor necrosis factor ( LITAF ) gene, also known as small integral membrane protein of the lysosome/late endosome ( SIMPLE ) . Given the rarity of CMT1C, we looked at our patients with the Gly112Ser (G112S) mutation and the specific clinical and electrodiagnostic phenotype associated with this mutation.…”

mentioning

confidence: 99%

Charcot–Marie–Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation

Jerath

Shy

2017

Muscle and Nerve

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Introduction Charcot–Marie–Tooth disease type 1C (CMT1C) is a rare, dominantly inherited neuropathy caused by mutations in the lipopolysaccharide-induced tumor necrosis factor (LITAF) or small integral membrane protein of the lysosome/late endosome (SIMPLE) gene. Methods We present a case series comprised of 10 patients in whom CMT1C is caused by a Gly112Ser substitution in the encoded protein. We focus on clinical presentation, electrodiagnostic analyses, and our findings in the context of previously described cases. Results The Gly112Ser mutation causing CMT1C is a mild form of CMT, as patients walked on time, had less weakness than those with Charcot–Marie–Tooth disease type 1A (CMT1A), had a CMT neuropathy score (CMTNS) indicative of mild disease, and had faster ulnar and median motor nerve conduction velocities compared to those with CMT1A. Conclusion The G112S mutation in LITAF seems to be clinically indistinguishable from a mild presentation of CMT1A. Muscle Nerve, 2017

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confidence: 99%

Charcot–Marie–Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation

Jerath

Shy

2017

Muscle and Nerve

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“…Additionally, a genetic susceptibility to develop MS has been aimed in patients with CMT1C, in which mutations in LITAF gene would lead to a TNF‐α overexpression. A role of TNF‐α in the pathogenesis and outcome of MS has been widely demonstrated, thus supporting the hypothesis that a possible link between these conditions may be tied to a proinflammatory role of mutated myelin proteins involved in the pathogenesis of CMT diseases (Potulska‐Chromik et al., ).…”

Section: Previously Described Cases Of Association Between Ms and Cmtmentioning

confidence: 67%

“…The association between multiple sclerosis (MS) and hereditary (Kawamura et al., ) and sporadic (Potulska‐Chromik et al., ) demyelinating disorders of the peripheral nervous system is extremely rare. Nevertheless, the contemporary involvement of both central and peripheral myelin could be related to a unique autoimmune pathogenetic mechanisms allowed by the partial homology among peripheral and central proteins (Kawamura et al., ; Potulska‐Chromik et al., ).…”

Section: Previously Described Cases Of Association Between Ms and Cmtmentioning

confidence: 99%

“…Given the very high prevalence of MS and the rarity of inflammatory and hereditary demyelinating neuropathy, the sporadic concomitant peripheral and central demyelination has been usually related to the chance (Potulska‐Chromik et al., ). However, a potential explanation of this association may be the presence of an autoimmune disorder involving both central and peripheral myelin (Kawamura et al., ; Potulska‐Chromik et al., ), only in a single case report of this association antifascin antibodies have been detected (Sharma et al., ). In the case presented here, we did not perform antifascin antibodies detection.…”

Section: Previously Described Cases Of Association Between Ms and Cmtmentioning

confidence: 99%

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A rare association between multiple sclerosis and Charcot‐Marie‐Tooth type 1B

et al. 2016

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Dysregulated Inflammatory Signaling upon Charcot-Marie-Tooth Type 1C Mutation of SIMPLE Protein

Zhu

Zhao

et al. 2015

Molecular and Cellular Biology

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Endosomal trafficking is a key mechanism to modulate signal propagation and cross talk. Ubiquitin adaptors, along with endosomal sorting complex required for transport (ESCRT) complexes, are also integrated to terminate ligand-receptor activation in late endosomes and multivesicular bodies (MVBs). Within these pathways, we recently demonstrated that the protein SIMPLE is a novel player in MVB regulation. SIMPLE is also clinically important and its mutation accounts for the Charcot-Marie-Tooth type 1C (CMT1C) disease. MVB defects of mutation and deletion of SIMPLE, however, are distinct. Here, we show that MVB defects found in mutation but not deletion of SIMPLE lead to impaired turnover and accumulation of ESCRT-0 protein Hrs puncta in late endosomes. We further uncover increased colocalization of ubiquitin ligase TRAF6 and Hrs in late endosomes. Upon stimulation with interkeukin-1 or transforming growth factor ␤, prolonged activation of p38 kinase/JNK is detected, while nuclear accumulation of NF-B and phosphorylation of SMAD2 is reduced with CMT1C mutation. The aberrant kinetics we observed in inflammatory signaling may contribute to increased tumor susceptibility and changes in the levels of chemokines/cytokines that result from CMT1C mutation. We propose that altered endosomal trafficking due to malformations of MVBs and subsequent atypical signaling kinetic may account for a toxic gain of function in CMT1C pathogenesis.

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Original article Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome

Cited by 4 publications

References 18 publications

Charcot–Marie–Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation

Charcot–Marie–Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation

A rare association between multiple sclerosis and Charcot‐Marie‐Tooth type 1B

Dysregulated Inflammatory Signaling upon Charcot-Marie-Tooth Type 1C Mutation of SIMPLE Protein

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