Cerebral white matter abnormalities in patients with charcot‐marie‐tooth disease

Lee, Mina; Park, Chang Hyun; Chung, Hwa Kyung; Kim, Hyeon Jin; Choi, Yunseo; Yoo, Jeong Hyun; Yoon, Young Chul; Hong, Young Bin; Chung, Ki Wha; Choi, Byung Ok; Lee, Hyang Woon

doi:10.1002/ana.24824

Cited by 27 publications

(32 citation statements)

References 20 publications

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“…However, rather surprisingly, no systematic study of conventional brain MRI on patients with CMTX has been reported to date. Recently, a diffusion tensor imaging study demonstrated white matter abnormalities in a series of 11 patients with GJB1 mutations 5. Interestingly, these abnormalities were limited to men, a finding only partly corroborated by present conventional MRI data, showing that callosal and diffuse white matter hyperintensity was more common in men than women.…”

Section: Discussionmentioning

confidence: 53%

“…In the case of CMTX, subclinical CNS involvement, documented on brain MRI or evoked potentials, is not uncommon 6 7. This usually takes the form of transient confluent symmetric white matter lesions (WML) with posterior predominance on T2 MRI sequences, but can also be detected as more permanent diffusor tensor imaging abnormalities 5. Less commonly, clinical involvement ranging from extensor plantars to acute transient encephalopathy can be observed in patients with CMTX 7 8…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association

Breza

Velonakis

Tzartos

et al. 2018

J Neurol Neurosurg Psychiatry

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Section: Discussionmentioning

confidence: 53%

Section: Introductionmentioning

confidence: 99%

X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association

Breza

Velonakis

Tzartos

et al. 2018

J Neurol Neurosurg Psychiatry

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“…This supports an important role for ER Ca 2+ in the pathogenesis of CMT1A, although any role disrupted by PMP mutations would likely be associated with Schwann cells and not with neuronal ER. The peripheral neuropathy CMT2A affects the peripheral and central nervous system, resulting in axon degeneration and progressive sensory loss in patients (Lee et al, 2017). CMT2A occurs as mostly autosomal dominant (Züchner et al, 2004), but sometimes recessive (Iapadre et al, 2018) or semi-dominant (Piscosquito et al, 2015) due to mutations in MFN2.…”

Section: Peripheral Neuropathies and Ermentioning

confidence: 99%

Axonal Endoplasmic Reticulum Dynamics and Its Roles in Neurodegeneration

2020

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The physical continuity of axons over long cellular distances poses challenges for their maintenance. One organelle that faces this challenge is endoplasmic reticulum (ER); unlike other intracellular organelles, this forms a physically continuous network throughout the cell, with a single membrane and a single lumen. In axons, ER is mainly smooth, forming a tubular network with occasional sheets or cisternae and low amounts of rough ER. It has many potential roles: lipid biosynthesis, glucose homeostasis, a Ca 2+ store, protein export, and contacting and regulating other organelles. This tubular network structure is determined by ER-shaping proteins, mutations in some of which are causative for neurodegenerative disorders such as hereditary spastic paraplegia (HSP). While axonal ER shares many features with the tubular ER network in other contexts, these features must be adapted to the long and narrow dimensions of axons. ER appears to be physically continuous throughout axons, over distances that are enormous on a subcellular scale. It is therefore a potential channel for long-distance or regional communication within neurons, independent of action potentials or physical transport of cargos, but involving its physiological roles such as Ca 2+ or organelle homeostasis. Despite its apparent stability, axonal ER is highly dynamic, showing features like anterograde and retrograde transport, potentially reflecting continuous fusion and breakage of the network. Here we discuss the transport processes that must contribute to this dynamic behavior of ER. We also discuss the model that these processes underpin a homeostatic process that ensures both enough ER to maintain continuity of the network and repair breaks in it, but not too much ER that might disrupt local cellular physiology. Finally, we discuss how failure of ER organization in axons could lead to axon degenerative diseases, and how a requirement for ER continuity could make distal axons most susceptible to degeneration in conditions that disrupt ER continuity.

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“…Some patients show additional symptoms such as hearing loss and scoliosis [ 8 ]. Interestingly, there are accumulating case reports of cerebral white matter abnormalities mainly in X-linked CMT type 1, and recently, abnormal diffusion-tensor imaging on brain MRI was shown to correlate with clinical disability in various CMT subgroups, suggesting subclinical central nervous system involvement in addition to clinical peripheral neuropathy [ 9 , 10 , 11 ]. Most patients develop symptoms in childhood, while there are marked individual differences in the severity and progression rate even in those with the same genetic alteration [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

Recent Advances in Drosophila Models of Charcot-Marie-Tooth Disease

Kitani-Morii

Noto

2020

IJMS

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Charcot-Marie-Tooth disease (CMT) is one of the most common inherited peripheral neuropathies. CMT patients typically show slowly progressive muscle weakness and sensory loss in a distal dominant pattern in childhood. The diagnosis of CMT is based on clinical symptoms, electrophysiological examinations, and genetic testing. Advances in genetic testing technology have revealed the genetic heterogeneity of CMT; more than 100 genes containing the disease causative mutations have been identified. Because a single genetic alteration in CMT leads to progressive neurodegeneration, studies of CMT patients and their respective models revealed the genotype-phenotype relationships of targeted genes. Conventionally, rodents and cell lines have often been used to study the pathogenesis of CMT. Recently, Drosophila has also attracted attention as a CMT model. In this review, we outline the clinical characteristics of CMT, describe the advantages and disadvantages of using Drosophila in CMT studies, and introduce recent advances in CMT research that successfully applied the use of Drosophila, in areas such as molecules associated with mitochondria, endosomes/lysosomes, transfer RNA, axonal transport, and glucose metabolism.

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Cerebral white matter abnormalities in patients with charcot‐marie‐tooth disease

Cited by 27 publications

References 20 publications

X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association

X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association

Axonal Endoplasmic Reticulum Dynamics and Its Roles in Neurodegeneration

Recent Advances in Drosophila Models of Charcot-Marie-Tooth Disease

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